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出门在外也不愁Protein knowledgebaseSequence archiveHelp pages, FAQs, UniProtKB manual, documents, news archive and Biocuration projects.Sequence clustersProtein sets from fully sequenced genomesAnnotation systemsSystems used to automatically annotate proteins with high accuracy:Supporting dataSelect one of the options below to target your search:Voltage-dependent L-type calcium channel subunit alpha-1FCACNA1FHomo sapiens (Human)-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveliFunctioniVoltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1F gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin-GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA).SitesFeature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActionsSitei1Calcium ion selectivity and permeabilitySitei1Calcium ion selectivity and permeabilitySitei1Calcium ion selectivity and permeabilitySitei1Calcium ion selectivity and permeabilityRegionsFeature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActionsCalcium bindingi12GO - Molecular functioniGO - Biological processiKeywords - Molecular functioni, , Keywords - Biological processi, , , , Keywords - Ligandi, Enzyme and pathway databases
Reactomei Phase 0 - rapid depolarisation.
Phase 2 - plateau phase.
Phase 1 - inactivation of fast Na+ channels. Protein family/group databases
TCDBi the voltage-gated ion channel (vic) superfamily. Names & TaxonomyiProtein namesiRecommended name:Voltage-dependent L-type calcium channel subunit alpha-1FAlternative name(s):Voltage-gated calcium channel subunit alpha Cav1.4Gene namesiName:Synonyms:CACNAF1OrganismiTaxonomic identifieri
[]Taxonomic lineagei &
Proteomesi Componenti: Chromosome X Organism-specific databases
HGNCi CACNA1F. Subcellular locationi; TopologyFeature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActionsTopological domaini92CytoplasmicTransmembranei19H Name=S1 of repeat ITopological domaini18ExtracellularTransmembranei20H Name=S2 of repeat ITopological domaini12CytoplasmicTransmembranei19H Name=S3 of repeat ITopological domaini21ExtracellularTransmembranei19H Name=S4 of repeat ITopological domaini19CytoplasmicTransmembranei20H Name=S5 of repeat ITopological domaini88ExtracellularTransmembranei25H Name=S6 of repeat ITopological domaini157CytoplasmicTransmembranei20H Name=S1 of repeat IITopological domaini15ExtracellularTransmembranei19H Name=S2 of repeat IITopological domaini8CytoplasmicTransmembranei19H Name=S3 of repeat IITopological domaini10ExtracellularTransmembranei19H Name=S4 of repeat IITopological domaini19CytoplasmicTransmembranei21H Name=S5 of repeat IITopological domaini54ExtracellularTransmembranei25H Name=S6 of repeat IITopological domaini113CytoplasmicTransmembranei19H Name=S1 of repeat IIITopological domaini16ExtracellularTransmembranei20H Name=S2 of repeat IIITopological domaini12CytoplasmicTransmembranei19H Name=S3 of repeat IIITopological domaini6ExtracellularTransmembranei20H Name=S4 of repeat IIITopological domaini19CytoplasmicTransmembranei20H Name=S5 of repeat IIITopological domaini90ExtracellularTransmembranei21H Name=S6 of repeat IIITopological domaini57CytoplasmicTransmembranei19H Name=S1 of repeat IVTopological domaini15ExtracellularTransmembranei20H Name=S2 of repeat IVTopological domaini7CytoplasmicTransmembranei22H Name=S3 of repeat IVTopological domaini17ExtracellularTransmembranei20H Name=S4 of repeat IVTopological domaini19CytoplasmicTransmembranei20H Name=S5 of repeat IVTopological domaini67ExtracellularTransmembranei25H Name=S6 of repeat IVTopological domaini536CytoplasmicGO - Cellular componentiKeywords - Cellular componentiPathology & BiotechiInvolvement in diseaseiThe disease is caused by mutations affecting the gene represented in this entry.Disease descriptionA non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia.Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActionsNatural varianti1 in CSNB2A. "Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.", , , , , , , , , , ,
[] [] []Cited for: VARIANTS CSNB2A ARG-74; PRO-229; ARG-261; ASP-369; CYS-753; PRO-860; ARG-1018; TRP-1060; PRO-1079; ARG-1499; ARG-1500 AND PRO-1508. VAR_030808Natural varianti1 in CSNB2A. "Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture)."
[] [] []Cited for: VARIANTS CSNB2A ARG-150 AND ILE-635. VAR_030809Natural varianti1 in CSNB2A. "Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.", , , , , , , , , , ,
[] [] []Cited for: VARIANTS CSNB2A ARG-74; PRO-229; ARG-261; ASP-369; CYS-753; PRO-860; ARG-1018; TRP-1060; PRO-1079; ARG-1499; ARG-1500 AND PRO-1508. VAR_030810Natural varianti1 in CSNB2A. "Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.", , , , , , , , , , ,
[] [] []Cited for: VARIANTS CSNB2A ARG-74; PRO-229; ARG-261; ASP-369; CYS-753; PRO-860; ARG-1018; TRP-1060; PRO-1079; ARG-1499; ARG-1500 AND PRO-1508. VAR_030811Natural varianti1 in CSNB2A. "An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.", , , , , , , , , , , , , ,
[] [] []Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 2), VARIANTS CSNB2A ASP-369; GLN-519; TRP-1060 AND HIS-1375. "A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.", , , , , , , , ,
[] [] []Cited for: VARIANTS CSNB2A ASP-369; ASP-674 AND ASP-928. "Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.", , , , , , , , , , ,
[] [] []Cited for: VARIANTS CSNB2A ARG-74; PRO-229; ARG-261; ASP-369; CYS-753; PRO-860; ARG-1018; TRP-1060; PRO-1079; ARG-1499; ARG-1500 AND PRO-1508. VAR_001504Natural varianti1 in CSNB2A. "An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.", , , , , , , , , , , , , ,
[] [] []Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 2), VARIANTS CSNB2A ASP-369; GLN-519; TRP-1060 AND HIS-1375. Corresponds to variant rs [
].VAR_001505Natural varianti1 in AIED and CSNB2A. "A novel p.Gly603Arg mutation in CACNA1F causes Aland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.", , , , Mol. Vis. 17:11)
[] [] []Cited for: VARIANT CSNB2A ARG-603, VARIANT AIED ARG-603. VAR_071433Natural varianti1 in CSNB2A. "Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture)."
[] [] []Cited for: VARIANTS CSNB2A ARG-150 AND ILE-635. Corresponds to variant rs [
].VAR_030812Natural varianti1 in CSNB2A. "A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.", , , , , , , , ,
[] [] []Cited for: VARIANTS CSNB2A ASP-369; ASP-674 AND ASP-928. VAR_030813Natural varianti1 in CSNB2A. "Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.", , , , , , , , , , ,
[] [] []Cited for: VARIANTS CSNB2A ARG-74; PRO-229; ARG-261; ASP-369; CYS-753; PRO-860; ARG-1018; TRP-1060; PRO-1079; ARG-1499; ARG-1500 AND PRO-1508. VAR_030814Natural varianti1 in CSNB2A; increases the number of mutant channels open at physiologic membrane potential and allows for persistent Ca(2+) entry due to reduced channel inactivation resulting in a gain-of-function defect. "A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation.", , , , , , , , , , , , ,
[] [] []Cited for: VARIANT CSNB2A THR-756, CHARACTERIZATION OF VARIANT CSNB2A THR-756. VAR_030815Natural varianti1 in CSNB2A. "Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.", , , , , , , , , , ,
[] [] []Cited for: VARIANTS CSNB2A ARG-74; PRO-229; ARG-261; ASP-369; CYS-753; PRO-860; ARG-1018; TRP-1060; PRO-1079; ARG-1499; ARG-1500 AND PRO-1508. VAR_030816Natural varianti1 in CSNB2A. "A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.", , , , , , , , ,
[] [] []Cited for: VARIANTS CSNB2A ASP-369; ASP-674 AND ASP-928. VAR_030817Natural varianti1 in CSNB2A. "Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.", , , , , , , , , , ,
[] [] []Cited for: VARIANTS CSNB2A ARG-74; PRO-229; ARG-261; ASP-369; CYS-753; PRO-860; ARG-1018; TRP-1060; PRO-1079; ARG-1499; ARG-1500 AND PRO-1508. VAR_030818Natural varianti1 in CSNB2A. "An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.", , , , , , , , , , , , , ,
[] [] []Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 2), VARIANTS CSNB2A ASP-369; GLN-519; TRP-1060 AND HIS-1375. "Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.", , , , , , , , , , ,
[] [] []Cited for: VARIANTS CSNB2A ARG-74; PRO-229; ARG-261; ASP-369; CYS-753; PRO-860; ARG-1018; TRP-1060; PRO-1079; ARG-1499; ARG-1500 AND PRO-1508. VAR_001506Natural varianti1 in CSNB2A. "Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.", , , , , , , , , , ,
[] [] []Cited for: VARIANTS CSNB2A ARG-74; PRO-229; ARG-261; ASP-369; CYS-753; PRO-860; ARG-1018; TRP-1060; PRO-1079; ARG-1499; ARG-1500 AND PRO-1508. VAR_030819Natural varianti1 in CSNB2A. "An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.", , , , , , , , , , , , , ,
[] [] []Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 2), VARIANTS CSNB2A ASP-369; GLN-519; TRP-1060 AND HIS-1375. VAR_001507Natural varianti1 in CSNB2A. "Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.", , , , , , , , , , ,
[] [] []Cited for: VARIANTS CSNB2A ARG-74; PRO-229; ARG-261; ASP-369; CYS-753; PRO-860; ARG-1018; TRP-1060; PRO-1079; ARG-1499; ARG-1500 AND PRO-1508. VAR_030820Natural varianti1 in CSNB2A. "Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.", , , , , , , , , , ,
[] [] []Cited for: VARIANTS CSNB2A ARG-74; PRO-229; ARG-261; ASP-369; CYS-753; PRO-860; ARG-1018; TRP-1060; PRO-1079; ARG-1499; ARG-1500 AND PRO-1508. VAR_030821Natural varianti1 in CSNB2A. "Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.", , , , , , , , , , ,
[] [] []Cited for: VARIANTS CSNB2A ARG-74; PRO-229; ARG-261; ASP-369; CYS-753; PRO-860; ARG-1018; TRP-1060; PRO-1079; ARG-1499; ARG-1500 AND PRO-1508. VAR_030822The disease is caused by mutations affecting the gene represented in this entry.Disease descriptionAn inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa.The disease is caused by mutations affecting the gene represented in this entry.Disease descriptionA retinal disease characterized by a combination of fundus hypopigmentation, decreased visual acuity due to foveal hypoplasia, nystagmus, astigmatism, protan color vision defect, myopia, and defective dark adaptation. Except for progression of axial myopia, the disease can be considered to be a stationary condition. Electroretinography reveals abnormalities in both photopic and scotopic functions.Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActionsNatural varianti1 in AIED and CSNB2A. "A novel p.Gly603Arg mutation in CACNA1F causes Aland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.", , , , Mol. Vis. 17:11)
[] [] []Cited for: VARIANT CSNB2A ARG-603, VARIANT AIED ARG-603. VAR_071433Keywords - Diseasei, , Organism-specific databases
MalaCardsi
MIMi phenotype.
phenotype.
phenotype.
Orphaneti Aland Islands eye disease.
Cone rod dystrophy.
Congenital stationary night blindness.
PharmGKBi Chemistry
DrugBanki Cinnarizine.
Clevidipine.
Dronedarone.
Nimodipine.
Spironolactone.
Verapamil.
GuidetoPHARMACOLOGYi Polymorphism and mutation databases
BioMutai PTM / ProcessingiMolecule processingFeature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActionsChaini1977Voltage-dependent L-type calcium channel subunit alpha-1FPRO_Amino acid modificationsFeature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActionsGlycosylationi1N-linked (GlcNAc...)Modified residuei1P by PKAKeywords - PTMi, , Proteomic databases
PRIDEi PTM databases
PhosphoSitei ExpressioniTissue specificityiExpression in skeletal muscle and retina."Isolation and characterization of a calcium channel gene, cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindness.", ,
[] [] []Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY. Gene expression databases
ExpressionAtlasi baseline and differential.
Genevisiblei HS. InteractioniSubunit structureiVoltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1, alpha-2, beta and delta subunits in a 1:1:1:1 ratio. The channel activity is directed by the pore-forming and voltage-sensitive alpha-1 subunit. In many cases, this subunit is sufficient to generate voltage-sensitive calcium channel activity. The auxiliary subunits beta and alpha-2/delta linked by a disulfide bridge regulate the channel activity. Interacts (via IQ domain) with CABP4; in a calcium independent manner (By similarity).Protein-protein interaction databases
BioGridi 1 interaction.
IntActi 2 interactions.
STRINGi Structurei3D structure databases
ProteinModelPortali
SMRi Positions
MobiDBiFamily & DomainsiDomains and RepeatsFeature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActionsRepeati297IRepeati247IIRepeati283IIIRepeati268IVRegionFeature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActionsRegioni18Binding to the beta subunitRegioni91Dihydropyridine bindingRegioni67Dihydropyridine bindingRegioni44Phenylalkylamine bindingCompositional biasFeature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActionsCompositional biasi7Poly-LeuCompositional biasi6Poly-GluCompositional biasi17Poly-GluCompositional biasi4Poly-IleCompositional biasi6Poly-GluDomainiEach of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position.Sequence similaritiesiBelongs to the . . []Keywords - Domaini, , Phylogenomic databases
eggNOGi Eukaryota.
InParanoidi
PhylomeDBi
TreeFami Family and domain databases
Gene3Di 5 hits.
InterProi CAC1F_C.
Channel_four-helix_dom.
Ion_trans_dom.
VDCC_a1su_IQ.
VDCC_L_a1F.
VDCC_L_a1su.
VDCCAlpha1.
PANTHERi PTHR10037:SF184. 1 hit.
Pfami Ca_chan_IQ. 1 hit.
CAC1F_C. 1 hit.
GPHH. 1 hit.
Ion_trans. 4 hits.
PRINTSi CACHANNEL.
LVDCCALPHA1.
SMARTi Ca_chan_IQ. 1 hit.
[]Sequences (3)iSequence statusi: Complete.This entry describes 3 isoformsi produced by alternative splicing.
(identifier: O60840-1)
[]This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
50MSESEGGKDT TPEPSPANGA GPGPEWGLCP GPPAVEGESS GASGLGTPKR
100RNQHSKHKTV AVASAQRSPR ALFCLTLANP LRRSCISIVE WKPFDILILL
150TIFANCVALG VYIPFPEDDS NTANHNLEQV EYVFLVIFTV ETVLKIVAYG
200LVLHPSAYIR NGWNLLDFII VVVGLFSVLL EQGPGRPGDA PHTGGKPGGF
250DVKALRAFRV LRPLRLVSGV PSLHIVLNSI MKALVPLLHI ALLVLFVIII
300YAIIGLELFL GRMHKTCYFL GSDMEAEEDP SPCASSGSGR ACTLNQTECR
350GRWPGPNGGI TNFDNFFFAM LTVFQCVTME GWTDVLYWMQ DAMGYELPWV
400YFVSLVIFGS FFVLNLVLGV LSGEFSKERE KAKARGDFQK QREKQQMEED
450LRGYLDWITQ AEELDMEDPS ADDNLGSMAE EGRAGHRPQL AELTNRRRGR
500LRWFSHSTRS THSTSSHASL PASDTGSMTE TQGDEDEEEG ALASCTRCLN
550KIMKTRVCRR LRRANRVLRA RCRRAVKSNA CYWAVLLLVF LNTLTIASEH
600HGQPVWLTQI QEYANKVLLC LFTVEMLLKL YGLGPSAYVS SFFNRFDCFV
650VCGGILETTL VEVGAMQPLG ISVLRCVRLL RIFKVTRHWA SLSNLVASLL
700NSMKSIASLL LLLFLFIIIF SLLGMQLFGG KFNFDQTHTK RSTFDTFPQA
750LLTVFQILTG EDWNVVMYDG IMAYGGPFFP GMLVCIYFII LFICGNYILL
800NVFLAIAVDN LASGDAGTAK DKGGEKSNEK DLPQENEGLV PGVEKEEEEG
850ARREGADMEE EEEEEEEEEE EEEEEGAGGV ELLQEVVPKE KVVPIPEGSA
900FFCLSQTNPL RKGCHTLIHH HVFTNLILVF IILSSVSLAA EDPIRAHSFR
950NHILGYFDYA FTSIFTVEIL LKMTVFGAFL HRGSFCRSWF NMLDLLVVSV
1000SLISFGIHSS AISVVKILRV LRVLRPLRAI NRAKGLKHVV QCVFVAIRTI
1050GNIMIVTTLL QFMFACIGVQ LFKGKFYTCT DEAKHTPQEC KGSFLVYPDG
1100DVSRPLVRER LWVNSDFNFD NVLSAMMALF TVSTFEGWPA LLYKAIDAYA
1150EDHGPIYNYR VEISVFFIVY IIIIAFFMMN IFVGFVIITF RAQGEQEYQN
1200CELDKNQRQC VEYALKAQPL RRYIPKNPHQ YRVWATVNSA AFEYLMFLLI
1250LLNTVALAMQ HYEQTAPFNY AMDILNMVFT GLFTIEMVLK IIAFKPKHYF
1300TDAWNTFDAL IVVGSIVDIA VTEVNNGGHL GESSEDSSRI SITFFRLFRV
1350MRLVKLLSKG EGIRTLLWTF IKSFQALPYV ALLIAMIFFI YAVIGMQMFG
1400KVALQDGTQI NRNNNFQTFP QAVLLLFRCA TGEAWQEIML ASLPGNRCDP
1450ESDFGPGEEF TCGSNFAIAY FISFFMLCAF LIINLFVAVI MDNFDYLTRD
1500WSILGPHHLD EFKRIWSEYD PGAKGRIKHL DVVALLRRIQ PPLGFGKLCP
1550HRVACKRLVA MNMPLNSDGT VTFNATLFAL VRTSLKIKTE GNLEQANQEL
1600RIVIKKIWKR MKQKLLDEVI PPPDEEEVTV GKFYATFLIQ DYFRKFRRRK
1650EKGLLGNDAA PSTSSALQAG LRSLQDLGPE MRQALTCDTE EEEEEGQEGV
1700EEEDEKDLET NKATMVSQPS ARRGSGISVS LPVGDRLPDS LSFGPSDDDR
1750GTPTSSQPSV PQAGSNTHRR GSGALIFTIP EEGNSQPKGT KGQNKQDEDE
1800EVPDRLSYLD EQAGTPPCSV LLPPHRAQRY MDGHLVPRRR LLPPTPAGRK
1850PSFTIQCLQR QGSCEDLPIP GTYHRGRNSG PNRAQGSWAT PPQRGRLLYA
1900PLLLVEEGAA GEGYLGRSSG PLRTFTCLHV PGTHSDPSHG KRGSADSLVE
1950AVLISEGLGL FARDPRFVAL AKQEIADACR LTLDEMDNAA SDLLAQGTSS
1970 LYSDEESILS RFDEEDLGDE MACVHAL
1,977220,678April 14, 2009 - v2Checksum:iD8E73BLASTProtParamProtScaleCompute pI/MWPeptideMassPeptideCutter (identifier: O60840-2)
[]The sequence of this isoform differs from the canonical sequence as follows:&&&&&: Missing.&1,966219,496Checksum:iFEB47E19FA57E31DBLASTProtParamProtScaleCompute pI/MWPeptideMassPeptideCutter (identifier: O60840-4)
[]The sequence of this isoform differs from the canonical sequence as follows:&&&&&: DTTPEPSPAN...LANPLRRSCI&&&GERILPSLQTLGA&1,912214,033Checksum:i0E2C45C8E4156E0DBLASTProtParamProtScaleCompute pI/MWPeptideMassPeptideCutterSequence cautioniThe sequence
differs from that shown. Reason: Erroneous gene model prediction. Experimental InfoFeature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActionsSequence conflicti1E & V in
(PubMed:).Sequence conflicti1A & G in
(PubMed:).Natural variantFeature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActionsNatural varianti1.Corresponds to variant rs6520408 [
].VAR_030807Natural varianti1 in CSNB2A. "Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.", , , , , , , , , , ,
[] [] []Cited for: VARIANTS CSNB2A ARG-74; PRO-229; ARG-261; ASP-369; CYS-753; PRO-860; ARG-1018; TRP-1060; PRO-1079; ARG-1499; ARG-1500 AND PRO-1508. VAR_030808Natural varianti1 in CSNB2A. "Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture)."
[] [] []Cited for: VARIANTS CSNB2A ARG-150 AND ILE-635. VAR_030809Natural varianti1 in CSNB2A. "Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.", , , , , , , , , , ,
[] [] []Cited for: VARIANTS CSNB2A ARG-74; PRO-229; ARG-261; ASP-369; CYS-753; PRO-860; ARG-1018; TRP-1060; PRO-1079; ARG-1499; ARG-1500 AND PRO-1508. VAR_030810Natural varianti1 in CSNB2A. "Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.", , , , , , , , , , ,
[] [] []Cited for: VARIANTS CSNB2A ARG-74; PRO-229; ARG-261; ASP-369; CYS-753; PRO-860; ARG-1018; TRP-1060; PRO-1079; ARG-1499; ARG-1500 AND PRO-1508. VAR_030811Natural varianti1 in CSNB2A. "An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.", , , , , , , , , , , , , ,
[] [] []Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 2), VARIANTS CSNB2A ASP-369; GLN-519; TRP-1060 AND HIS-1375. "A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.", , , , , , , , ,
[] [] []Cited for: VARIANTS CSNB2A ASP-369; ASP-674 AND ASP-928. "Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.", , , , , , , , , , ,
[] [] []Cited for: VARIANTS CSNB2A ARG-74; PRO-229; ARG-261; ASP-369; CYS-753; PRO-860; ARG-1018; TRP-1060; PRO-1079; ARG-1499; ARG-1500 AND PRO-1508. VAR_001504Natural varianti1 in CSNB2A. "An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.", , , , , , , , , , , , , ,
[] [] []Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 2), VARIANTS CSNB2A ASP-369; GLN-519; TRP-1060 AND HIS-1375. Corresponds to variant rs [
].VAR_001505Natural varianti1 in AIED and CSNB2A. "A novel p.Gly603Arg mutation in CACNA1F causes Aland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.", , , , Mol. Vis. 17:11)
[] [] []Cited for: VARIANT CSNB2A ARG-603, VARIANT AIED ARG-603. VAR_071433Natural varianti1 in CSNB2A. "Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture)."
[] [] []Cited for: VARIANTS CSNB2A ARG-150 AND ILE-635. Corresponds to variant rs [
].VAR_030812Natural varianti1 in CSNB2A. "A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.", , , , , , , , ,
[] [] []Cited for: VARIANTS CSNB2A ASP-369; ASP-674 AND ASP-928. VAR_030813Natural varianti1."Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness.", , , , , , , , , , ,
[] [] []Cited for: VARIANT THR-746. Corresponds to variant rs [
].VAR_029376Natural varianti1 in CSNB2A. "Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.", , , , , , , , , , ,
[] [] []Cited for: VARIANTS CSNB2A ARG-74; PRO-229; ARG-261; ASP-369; CYS-753; PRO-860; ARG-1018; TRP-1060; PRO-1079; ARG-1499; ARG-1500 AND PRO-1508. VAR_030814Natural varianti1 in CSNB2A; increases the number of mutant channels open at physiologic membrane potential and allows for persistent Ca(2+) entry due to reduced channel inactivation resulting in a gain-of-function defect. "A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation.", , , , , , , , , , , , ,
[] [] []Cited for: VARIANT CSNB2A THR-756, CHARACTERIZATION OF VARIANT CSNB2A THR-756. VAR_030815Natural varianti1 in CSNB2A. "Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.", , , , , , , , , , ,
[] [] []Cited for: VARIANTS CSNB2A ARG-74; PRO-229; ARG-261; ASP-369; CYS-753; PRO-860; ARG-1018; TRP-1060; PRO-1079; ARG-1499; ARG-1500 AND PRO-1508. VAR_030816Natural varianti1 in CSNB2A. "A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.", , , , , , , , ,
[] [] []Cited for: VARIANTS CSNB2A ASP-369; ASP-674 AND ASP-928. VAR_030817Natural varianti1 in CSNB2A. "Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.", , , , , , , , , , ,
[] [] []Cited for: VARIANTS CSNB2A ARG-74; PRO-229; ARG-261; ASP-369; CYS-753; PRO-860; ARG-1018; TRP-1060; PRO-1079; ARG-1499; ARG-1500 AND PRO-1508. VAR_030818Natural varianti1 in CSNB2A. "An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.", , , , , , , , , , , , , ,
[] [] []Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 2), VARIANTS CSNB2A ASP-369; GLN-519; TRP-1060 AND HIS-1375. "Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.", , , , , , , , , , ,
[] [] []Cited for: VARIANTS CSNB2A ARG-74; PRO-229; ARG-261; ASP-369; CYS-753; PRO-860; ARG-1018; TRP-1060; PRO-1079; ARG-1499; ARG-1500 AND PRO-1508. VAR_001506Natural varianti1 in CSNB2A. "Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.", , , , , , , , , , ,
[] [] []Cited for: VARIANTS CSNB2A ARG-74; PRO-229; ARG-261; ASP-369; CYS-753; PRO-860; ARG-1018; TRP-1060; PRO-1079; ARG-1499; ARG-1500 AND PRO-1508. VAR_030819Natural varianti1.Corresponds to variant rs [
].VAR_055662Natural varianti1.Corresponds to variant rs [
].VAR_031822Natural varianti1 in CSNB2A. "An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.", , , , , , , , , , , , , ,
[] [] []Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 2), VARIANTS CSNB2A ASP-369; GLN-519; TRP-1060 AND HIS-1375. VAR_001507Natural varianti1 in CSNB2A. "Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.", , , , , , , , , , ,
[] [] []Cited for: VARIANTS CSNB2A ARG-74; PRO-229; ARG-261; ASP-369; CYS-753; PRO-860; ARG-1018; TRP-1060; PRO-1079; ARG-1499; ARG-1500 AND PRO-1508. VAR_030820Natural varianti1 in CSNB2A. "Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.", , , , , , , , , , ,
[] [] []Cited for: VARIANTS CSNB2A ARG-74; PRO-229; ARG-261; ASP-369; CYS-753; PRO-860; ARG-1018; TRP-1060; PRO-1079; ARG-1499; ARG-1500 AND PRO-1508. VAR_030821Natural varianti1 in CSNB2A. "Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.", , , , , , , , , , ,
[] [] []Cited for: VARIANTS CSNB2A ARG-74; PRO-229; ARG-261; ASP-369; CYS-753; PRO-860; ARG-1018; TRP-1060; PRO-1079; ARG-1499; ARG-1500 AND PRO-1508. VAR_030822Natural varianti1.Corresponds to variant rs [
].VAR_054818Alternative sequenceFeature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActionsAlternative sequencei78DTTPE&RRSCI & GERILPSLQTLGA in isoform . "Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.", , , , , , , ,
[] [] []Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), INVOLVEMENT IN CSNB2A. VSP_045172Alternative sequencei11Missing
in isoform . "An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.", , , , , , , , , , , , , ,
[] [] []Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 2), VARIANTS CSNB2A ASP-369; GLN-519; TRP-1060 AND HIS-1375. "Expression and 1,4-dihydropyridine-binding properties of brain L-type calcium channel isoforms.", , , , , , , ,
[] [] []Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). VSP_036785Sequence databases
Select the link destinations:EMBLiGenBankiDDBJi Genomic DNA. Translation: . mRNA. Translation: . mRNA. Translation: . mRNA. Translation: . mRNA. Translation: . Genomic DNA. No translation available. Genomic DNA. No translation available. Genomic DNA. Translation: .
Sequence problems.
UniGeneiGenome annotation databases
Ensembli; ; .
UCSCi human.
[]Keywords - Coding sequence diversityi, Cross-referencesiWeb resourcesiRetina International's Scientific NewsletterSequence databases
Select the link destinations:EMBLiGenBankiDDBJi Genomic DNA. Translation: . mRNA. Translation: . mRNA. Translation: . mRNA. Translation: . mRNA. Translation: . Genomic DNA. No translation available. Genomic DNA. No translation available. Genomic DNA. Translation: .
Sequence problems.
UniGenei3D structure databases
ProteinModelPortali
SMRi Positions
MobiDBiProtein-protein interaction databases
BioGridi 1 interaction.
IntActi 2 interactions.
STRINGi Chemistry
DrugBanki Cinnarizine.
Clevidipine.
Dronedarone.
Nimodipine.
Spironolactone.
Verapamil.
GuidetoPHARMACOLOGYi Protein family/group databases
TCDBi the voltage-gated ion channel (vic) superfamily. PTM databases
PhosphoSitei Polymorphism and mutation databases
BioMutai Proteomic databases
PRIDEi Protocols and materials databases
Structural Biology KnowledgebaseGenome annotation databases
Ensembli; ; .
UCSCi human.
[]Organism-specific databases
GeneCardsi
GeneReviewsi
HGNCi CACNA1F.
MalaCardsi
MIMi phenotype.
phenotype.
phenotype.
Orphaneti Aland Islands eye disease.
Cone rod dystrophy.
Congenital stationary night blindness.
GenAtlasiPhylogenomic databases
eggNOGi Eukaryota.
InParanoidi
PhylomeDBi
TreeFami Enzyme and pathway databases
Reactomei Phase 0 - rapid depolarisation.
Phase 2 - plateau phase.
Phase 1 - inactivation of fast Na+ channels. Miscellaneous databases
ChiTaRSi human.
GenomeRNAii
SOURCEiGene expression databases
ExpressionAtlasi baseline and differential.
Genevisiblei HS. Family and domain databases
Gene3Di 5 hits.
InterProi CAC1F_C.
Channel_four-helix_dom.
Ion_trans_dom.
VDCC_a1su_IQ.
VDCC_L_a1F.
VDCC_L_a1su.
VDCCAlpha1.
PANTHERi PTHR10037:SF184. 1 hit.
Pfami Ca_chan_IQ. 1 hit.
CAC1F_C. 1 hit.
GPHH. 1 hit.
Ion_trans. 4 hits.
PRINTSi CACHANNEL.
LVDCCALPHA1.
SMARTi Ca_chan_IQ. 1 hit.
ProtoNetiPublicationsi"An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.", , , , , , , , , , , , , ,
[] [] []Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 2), VARIANTS CSNB2A ASP-369; GLN-519; TRP-1060 AND HIS-1375. Tissue: . "Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.", , , , , , , ,
[] [] []Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), INVOLVEMENT IN CSNB2A. "Isolation and characterization of a calcium channel gene, cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindness.", ,
[] [] []Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY. "Expression and 1,4-dihydropyridine-binding properties of brain L-type calcium channel isoforms.", , , , , , , ,
[] [] []Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). Tissue: . "The DNA sequence of the human X chromosome.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. "Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp.", , , , , ,
[] [] []Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF . "A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.", , , , , , , , ,
[] [] []Cited for: VARIANTS CSNB2A ASP-369; ASP-674 AND ASP-928. "Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.", , , , , , , , , , ,
[] [] []Cited for: VARIANTS CSNB2A ARG-74; PRO-229; ARG-261; ASP-369; CYS-753; PRO-860; ARG-1018; TRP-1060; PRO-1079; ARG-1499; ARG-1500 AND PRO-1508. "Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture)."
[] [] []Cited for: VARIANTS CSNB2A ARG-150 AND ILE-635. "A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation.", , , , , , , , , , , , ,
[] [] []Cited for: VARIANT CSNB2A THR-756, CHARACTERIZATION OF VARIANT CSNB2A THR-756. "Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness.", , , , , , , , , , ,
[] [] []Cited for: VARIANT THR-746. "X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene.", , , , , ,
[] [] []Cited for: INVOLVEMENT IN CORDX3. "A novel CACNA1F gene mutation causes Aland Island eye disease.", , , , , , ,
[] [] []Cited for: INVOLVEMENT IN AIED. "A novel p.Gly603Arg mutation in CACNA1F causes Aland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.", , , , Mol. Vis. 17:11)
[] [] []Cited for: VARIANT CSNB2A ARG-603, VARIANT AIED ARG-603. + Q9UHB1Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999Last sequence update: April 14, 2009Last modified: May 11, 2016This is version 166 of the entry and version 2 of the sequence.
[]Entry statusiReviewed (UniProtKB/Swiss-Prot)Annotation programDisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.MiscellaneousiKeywords - Technical termi, Documents
Human chromosome X: entries, gene names and cross-references to MIM
List of human entries with polymorphisms or disease mutations
Index of human polymorphisms and disease mutations
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
Index of protein domains and families
Similar proteinsiLinks to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.