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UniProtKB - Q00975 (CAC1B_HUMAN)

Protein

Voltage-dependent N-type calcium channel subunit alpha-1B

Gene

CACNA1B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Voltage-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-1B gives rise to N-type calcium currents. N-type calcium channels belong to the 'high-voltage activated' (HVA) group and are specifically blocked by omega-conotoxin-GVIA (AC P01522) (AC P01522) (By similarity). They are however insensitive to dihydropyridines (DHP). Calcium channels containing alpha-1B subunit may play a role in directed migration of immature neurons.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei314Calcium ion selectivity and permeabilityBy similarity1
Sitei663Calcium ion selectivity and permeabilityBy similarity1
Sitei1365Calcium ion selectivity and permeabilityBy similarity1
Sitei1655Calcium ion selectivity and permeabilityBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi451 – 458ATPSequence analysis8
Calcium bindingi1737 – 1748PROSITE-ProRule annotationAdd BLAST12

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • calcium channel activity Source: Reactome
  • calcium ion binding Source: InterPro
  • high voltage-gated calcium channel activity Source: GO_Central
  • protein C-terminus binding Source: UniProtKB
  • voltage-gated calcium channel activity Source: ProtInc
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionCalcium channel, Ion channel, Voltage-gated channel
Biological processCalcium transport, Ion transport, Transport
LigandATP-binding, Calcium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-112308 Presynaptic depolarization and calcium channel opening
SIGNORiQ00975

Names & Taxonomyi

Protein namesi
Recommended name:
Voltage-dependent N-type calcium channel subunit alpha-1B
Alternative name(s):
Brain calcium channel III
Short name:
BIII
Calcium channel, L type, alpha-1 polypeptide isoform 5
Voltage-gated calcium channel subunit alpha Cav2.2
Gene namesi
Name:CACNA1B
Synonyms:CACH5, CACNL1A5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000148408.12
HGNCiHGNC:1389 CACNA1B
MIMi601012 gene
neXtProtiNX_Q00975

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 95CytoplasmicSequence analysisAdd BLAST95
Transmembranei96 – 114Helical; Name=S1 of repeat ISequence analysisAdd BLAST19
Topological domaini115 – 132ExtracellularSequence analysisAdd BLAST18
Transmembranei133 – 152Helical; Name=S2 of repeat ISequence analysisAdd BLAST20
Topological domaini153 – 163CytoplasmicSequence analysisAdd BLAST11
Transmembranei164 – 183Helical; Name=S3 of repeat ISequence analysisAdd BLAST20
Topological domaini184 – 187ExtracellularSequence analysis4
Transmembranei188 – 206Helical; Name=S4 of repeat ISequence analysisAdd BLAST19
Topological domaini207 – 225CytoplasmicSequence analysisAdd BLAST19
Transmembranei226 – 245Helical; Name=S5 of repeat ISequence analysisAdd BLAST20
Topological domaini246 – 331ExtracellularSequence analysisAdd BLAST86
Transmembranei332 – 356Helical; Name=S6 of repeat ISequence analysisAdd BLAST25
Topological domaini357 – 482CytoplasmicSequence analysisAdd BLAST126
Transmembranei483 – 501Helical; Name=S1 of repeat IISequence analysisAdd BLAST19
Topological domaini502 – 516ExtracellularSequence analysisAdd BLAST15
Transmembranei517 – 536Helical; Name=S2 of repeat IISequence analysisAdd BLAST20
Topological domaini537 – 544CytoplasmicSequence analysis8
Transmembranei545 – 562Helical; Name=S3 of repeat IISequence analysisAdd BLAST18
Topological domaini563 – 573ExtracellularSequence analysisAdd BLAST11
Transmembranei574 – 592Helical; Name=S4 of repeat IISequence analysisAdd BLAST19
Topological domaini593 – 611CytoplasmicSequence analysisAdd BLAST19
Transmembranei612 – 631Helical; Name=S5 of repeat IISequence analysisAdd BLAST20
Topological domaini632 – 684ExtracellularSequence analysisAdd BLAST53
Transmembranei685 – 709Helical; Name=S6 of repeat IISequence analysisAdd BLAST25
Topological domaini710 – 1151CytoplasmicSequence analysisAdd BLAST442
Transmembranei1152 – 1169Helical; Name=S1 of repeat IIISequence analysisAdd BLAST18
Topological domaini1170 – 1185ExtracellularSequence analysisAdd BLAST16
Transmembranei1186 – 1205Helical; Name=S2 of repeat IIISequence analysisAdd BLAST20
Topological domaini1206 – 1217CytoplasmicSequence analysisAdd BLAST12
Transmembranei1218 – 1236Helical; Name=S3 of repeat IIISequence analysisAdd BLAST19
Topological domaini1237 – 1246ExtracellularSequence analysis10
Transmembranei1247 – 1265Helical; Name=S4 of repeat IIISequence analysisAdd BLAST19
Topological domaini1266 – 1284CytoplasmicSequence analysisAdd BLAST19
Transmembranei1285 – 1304Helical; Name=S5 of repeat IIISequence analysisAdd BLAST20
Topological domaini1305 – 1391ExtracellularSequence analysisAdd BLAST87
Transmembranei1392 – 1416Helical; Name=S6 of repeat IIISequence analysisAdd BLAST25
Topological domaini1417 – 1471CytoplasmicSequence analysisAdd BLAST55
Transmembranei1472 – 1490Helical; Name=S1 of repeat IVSequence analysisAdd BLAST19
Topological domaini1491 – 1505ExtracellularSequence analysisAdd BLAST15
Transmembranei1506 – 1525Helical; Name=S2 of repeat IVSequence analysisAdd BLAST20
Topological domaini1526 – 1533CytoplasmicSequence analysis8
Transmembranei1534 – 1552Helical; Name=S3 of repeat IVSequence analysisAdd BLAST19
Topological domaini1553 – 1563ExtracellularSequence analysisAdd BLAST11
Transmembranei1564 – 1582Helical; Name=S4 of repeat IVSequence analysisAdd BLAST19
Topological domaini1583 – 1601CytoplasmicSequence analysisAdd BLAST19
Transmembranei1602 – 1621Helical; Name=S5 of repeat IVSequence analysisAdd BLAST20
Topological domaini1622 – 1683ExtracellularSequence analysisAdd BLAST62
Transmembranei1684 – 1708Helical; Name=S6 of repeat IVSequence analysisAdd BLAST25
Topological domaini1709 – 2339CytoplasmicSequence analysisAdd BLAST631

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Dystonia 23 (DYT23)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT23 is an autosomal dominant dystonia affecting the face, neck, limbs. Some DYT23 patients manifest generalized myoclonus in addition to progressive action-induced multifocal dystonia.
See also OMIM:614860
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0734321389R → H in DYT23; gain of function mutation. 1 PublicationCorresponds to variant dbSNP:rs184841813EnsemblClinVar.1

Keywords - Diseasei

Congenital generalized lipodystrophy, Disease mutation, Dystonia, Mental retardation

Organism-specific databases

DisGeNETi774
MalaCardsiCACNA1B
MIMi614860 phenotype
OpenTargetsiENSG00000148408
PharmGKBiPA26008

Chemistry databases

ChEMBLiCHEMBL4478
DrugBankiDB08838 Agmatine
DB00381 Amlodipine
DB00996 Gabapentin
DB01202 Levetiracetam
DB00421 Spironolactone
DB00661 Verapamil
GuidetoPHARMACOLOGYi533

Polymorphism and mutation databases

BioMutaiCACNA1B
DMDMi1705854

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000539211 – 2339Voltage-dependent N-type calcium channel subunit alpha-1BAdd BLAST2339

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei22Omega-N-methylarginineBy similarity1
Glycosylationi256N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei411PhosphoserineBy similarity1
Modified residuei745PhosphoserineBy similarity1
Modified residuei748PhosphoserineBy similarity1
Modified residuei783PhosphoserineBy similarity1
Modified residuei1069PhosphoserineBy similarity1
Glycosylationi1563N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1675N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei1719Phosphoserine; by PKASequence analysis1
Modified residuei2066PhosphoserineBy similarity1
Modified residuei2224PhosphoserineBy similarity1
Modified residuei2233PhosphoserineBy similarity1
Modified residuei2256PhosphoserineBy similarity1

Post-translational modificationi

Phosphorylated in vitro by CaM-kinase II, PKA, PKC and CGPK.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Methylation, Phosphoprotein

Proteomic databases

PaxDbiQ00975
PeptideAtlasiQ00975
PRIDEiQ00975
ProteomicsDBi57886
57887 [Q00975-2]

PTM databases

iPTMnetiQ00975
PhosphoSitePlusiQ00975

Expressioni

Tissue specificityi

Isoform Alpha-1b-1 and isoform Alpha-1b-2 are expressed in the central nervous system, but not in skeletal muscle or aorta.

Gene expression databases

BgeeiENSG00000148408 Expressed in 90 organ(s), highest expression level in middle temporal gyrus
CleanExiHS_CACNA1B
ExpressionAtlasiQ00975 baseline and differential
GenevisibleiQ00975 HS

Organism-specific databases

HPAiHPA044347

Interactioni

Subunit structurei

Multisubunit complex 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 with RIMS1. Interacts with FMR1 (via C-terminus); this interaction induces a deacrease in the number of presynaptic functional CACNA1B channels at the cell surface. Interacts with the omega-conotoxin-GVIA (AC P01522) (By similarity).By similarity

Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi107228, 8 interactors
IntActiQ00975, 7 interactors
MINTiQ00975
STRINGi9606.ENSP00000360406

Chemistry databases

BindingDBiQ00975

Structurei

Secondary structure

12339
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ00975
SMRiQ00975
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati82 – 359IAdd BLAST278
Repeati468 – 712IIAdd BLAST245
Repeati1137 – 1419IIIAdd BLAST283
Repeati1456 – 1711IVAdd BLAST256
Domaini1724 – 1759EF-handPROSITE-ProRule annotationAdd BLAST36

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni379 – 396Binding to the beta subunitBy similarityAdd BLAST18

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi2050 – 2054Poly-His5
Compositional biasi2118 – 2122Poly-Ser5

Domaini

Each 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 similaritiesi

Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1B subfamily. [View classification]Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2301 Eukaryota
ENOG410XNP6 LUCA
GeneTreeiENSGT00830000128247
HOGENOMiHOG000231530
HOVERGENiHBG050763
InParanoidiQ00975
KOiK04849
PhylomeDBiQ00975

Family and domain databases

Gene3Di1.20.120.350, 4 hits
InterProiView protein in InterPro
IPR002048 EF_hand_dom
IPR031649 GPHH_dom
IPR005821 Ion_trans_dom
IPR014873 VDCC_a1su_IQ
IPR005447 VDCC_N_a1su
IPR002077 VDCCAlpha1
IPR027359 Volt_channel_dom_sf
PANTHERiPTHR10037:SF161 PTHR10037:SF161, 1 hit
PfamiView protein in Pfam
PF08763 Ca_chan_IQ, 1 hit
PF16905 GPHH, 1 hit
PF00520 Ion_trans, 4 hits
PRINTSiPR00167 CACHANNEL
PR01631 NVDCCALPHA1
SMARTiView protein in SMART
SM01062 Ca_chan_IQ, 1 hit
PROSITEiView protein in PROSITE
PS50222 EF_HAND_2, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.iShow all

Isoform Alpha-1B-1 (identifier: Q00975-1) [UniParc]FASTAAdd to basket

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.

« Hide
        10         20         30         40         50
MVRFGDELGG RYGGPGGGER ARGGGAGGAG GPGPGGLQPG QRVLYKQSIA 
        60         70         80         90        100
QRARTMALYN PIPVKQNCFT VNRSLFVFSE DNVVRKYAKR ITEWPPFEYM 
       110        120        130        140        150
ILATIIANCI VLALEQHLPD GDKTPMSERL DDTEPYFIGI FCFEAGIKII 
       160        170        180        190        200
ALGFVFHKGS YLRNGWNVMD FVVVLTGILA TAGTDFDLRT LRAVRVLRPL 
       210        220        230        240        250
KLVSGIPSLQ VVLKSIMKAM VPLLQIGLLL FFAILMFAII GLEFYMGKFH 
       260        270        280        290        300
KACFPNSTDA EPVGDFPCGK EAPARLCEGD TECREYWPGP NFGITNFDNI 
       310        320        330        340        350
LFAILTVFQC ITMEGWTDIL YNTNDAAGNT WNWLYFIPLI IIGSFFMLNL 
       360        370        380        390        400
VLGVLSGEFA KERERVENRR AFLKLRRQQQ IERELNGYLE WIFKAEEVML 
       410        420        430        440        450
AEEDRNAEEK SPLDVLKRAA TKKSRNDLIH AEEGEDRFAD LCAVGSPFAR 
       460        470        480        490        500
ASLKSGKTES SSYFRRKEKM FRFFIRRMVK AQSFYWVVLC VVALNTLCVA 
       510        520        530        540        550
MVHYNQPRRL TTTLYFAEFV FLGLFLTEMS LKMYGLGPRS YFRSSFNCFD 
       560        570        580        590        600
FGVIVGSVFE VVWAAIKPGS SFGISVLRAL RLLRIFKVTK YWSSLRNLVV 
       610        620        630        640        650
SLLNSMKSII SLLFLLFLFI VVFALLGMQL FGGQFNFQDE TPTTNFDTFP 
       660        670        680        690        700
AAILTVFQIL TGEDWNAVMY HGIESQGGVS KGMFSSFYFI VLTLFGNYTL 
       710        720        730        740        750
LNVFLAIAVD NLANAQELTK DEEEMEEAAN QKLALQKAKE VAEVSPMSAA 
       760        770        780        790        800
NISIAARQQN SAKARSVWEQ RASQLRLQNL RASCEALYSE MDPEERLRFA 
       810        820        830        840        850
TTRHLRPDMK THLDRPLVVE LGRDGARGPV GGKARPEAAE APEGVDPPRR 
       860        870        880        890        900
HHRHRDKDKT PAAGDQDRAE APKAESGEPG AREERPRPHR SHSKEAAGPP 
       910        920        930        940        950
EARSERGRGP GPEGGRRHHR RGSPEEAAER EPRRHRAHRH QDPSKECAGA 
       960        970        980        990       1000
KGERRARHRG GPRAGPREAE SGEEPARRHR ARHKAQPAHE AVEKETTEKE 
      1010       1020       1030       1040       1050
ATEKEAEIVE ADKEKELRNH QPREPHCDLE TSGTVTVGPM HTLPSTCLQK 
      1060       1070       1080       1090       1100
VEEQPEDADN QRNVTRMGSQ PPDPNTIVHI PVMLTGPLGE ATVVPSGNVD 
      1110       1120       1130       1140       1150
LESQAEGKKE VEADDVMRSG PRPIVPYSSM FCLSPTNLLR RFCHYIVTMR 
      1160       1170       1180       1190       1200
YFEVVILVVI ALSSIALAAE DPVRTDSPRN NALKYLDYIF TGVFTFEMVI 
      1210       1220       1230       1240       1250
KMIDLGLLLH PGAYFRDLWN ILDFIVVSGA LVAFAFSGSK GKDINTIKSL 
      1260       1270       1280       1290       1300
RVLRVLRPLK TIKRLPKLKA VFDCVVNSLK NVLNILIVYM LFMFIFAVIA 
      1310       1320       1330       1340       1350
VQLFKGKFFY CTDESKELER DCRGQYLDYE KEEVEAQPRQ WKKYDFHYDN 
      1360       1370       1380       1390       1400
VLWALLTLFT VSTGEGWPMV LKHSVDATYE EQGPSPGYRM ELSIFYVVYF 
      1410       1420       1430       1440       1450
VVFPFFFVNI FVALIIITFQ EQGDKVMSEC SLEKNERACI DFAISAKPLT 
      1460       1470       1480       1490       1500
RYMPQNRQSF QYKTWTFVVS PPFEYFIMAM IALNTVVLMM KFYDAPYEYE 
      1510       1520       1530       1540       1550
LMLKCLNIVF TSMFSMECVL KIIAFGVLNY FRDAWNVFDF VTVLGSITDI 
      1560       1570       1580       1590       1600
LVTEIAETNN FINLSFLRLF RAARLIKLLR QGYTIRILLW TFVQSFKALP 
      1610       1620       1630       1640       1650
YVCLLIAMLF FIYAIIGMQV FGNIALDDDT SINRHNNFRT FLQALMLLFR 
      1660       1670       1680       1690       1700
SATGEAWHEI MLSCLSNQAC DEQANATECG SDFAYFYFVS FIFLCSFLML 
      1710       1720       1730       1740       1750
NLFVAVIMDN FEYLTRDSSI LGPHHLDEFI RVWAEYDPAA CGRISYNDMF 
      1760       1770       1780       1790       1800
EMLKHMSPPL GLGKKCPARV AYKRLVRMNM PISNEDMTVH FTSTLMALIR 
      1810       1820       1830       1840       1850
TALEIKLAPA GTKQHQCDAE LRKEISVVWA NLPQKTLDLL VPPHKPDEMT 
      1860       1870       1880       1890       1900
VGKVYAALMI FDFYKQNKTT RDQMQQAPGG LSQMGPVSLF HPLKATLEQT 
      1910       1920       1930       1940       1950
QPAVLRGARV FLRQKSSTSL SNGGAIQNQE SGIKESVSWG TQRTQDAPHE 
      1960       1970       1980       1990       2000
ARPPLERGHS TEIPVGRSGA LAVDVQMQSI TRRGPDGEPQ PGLESQGRAA 
      2010       2020       2030       2040       2050
SMPRLAAETQ PVTDASPMKR SISTLAQRPR GTHLCSTTPD RPPPSQASSH 
      2060       2070       2080       2090       2100
HHHHRCHRRR DRKQRSLEKG PSLSADMDGA PSSAVGPGLP PGEGPTGCRR 
      2110       2120       2130       2140       2150
ERERRQERGR SQERRQPSSS SSEKQRFYSC DRFGGREPPK PKPSLSSHPT 
      2160       2170       2180       2190       2200
SPTAGQEPGP HPQGSGSVNG SPLLSTSGAS TPGRGGRRQL PQTPLTPRPS 
      2210       2220       2230       2240       2250
ITYKTANSSP IHFAGAQTSL PAFSPGRLSR GLSEHNALLQ RDPLSQPLAP 
      2260       2270       2280       2290       2300
GSRIGSDPYL GQRLDSEASV HALPEDTLTF EEAVATNSGR SSRTSYVSSL 
      2310       2320       2330 
TSQSHPLRRV PNGYHCTLGL SSGGRARHSY HHPDQDHWC
Length:2,339
Mass (Da):262,496
Last modified:October 1, 1996 - v1
Checksum:i17A45C6D1E76B39D
GO
Isoform Alpha-1B-2 (identifier: Q00975-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2164-2339: GSGSVNGSPL...YHHPDQDHWC → AGSAVGFPNT...APPGLPTCPP

Show »
Length:2,237
Mass (Da):251,716
Checksum:i28804E510F1E7747
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F6RH32F6RH32_HUMAN
Voltage-dependent N-type calcium ch...
CACNA1B
2,340Annotation score:
B1AQK7B1AQK7_HUMAN
Voltage-dependent N-type calcium ch...
CACNA1B
2,338Annotation score:
B1AQK6B1AQK6_HUMAN
Voltage-dependent N-type calcium ch...
CACNA1B
2,337Annotation score:
E9PDR3E9PDR3_HUMAN
Voltage-dependent N-type calcium ch...
CACNA1B
2,237Annotation score:
H0Y7I8H0Y7I8_HUMAN
Voltage-dependent N-type calcium ch...
CACNA1B
164Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Isoform Alpha-1B-2 (identifier: Q00975-2)
Sequence conflicti2215L → R in AAA51898 (PubMed:1321501).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_048741167N → K. Corresponds to variant dbSNP:rs4422842Ensembl.1
Natural variantiVAR_061100862A → S. Corresponds to variant dbSNP:rs7873074Ensembl.1
Natural variantiVAR_061101996T → A. Corresponds to variant dbSNP:rs11137342Ensembl.1
Natural variantiVAR_0734321389R → H in DYT23; gain of function mutation. 1 PublicationCorresponds to variant dbSNP:rs184841813EnsemblClinVar.1
Natural variantiVAR_0487421436E → K. Corresponds to variant dbSNP:rs12377346Ensembl.1
Natural variantiVAR_0487431500E → K. Corresponds to variant dbSNP:rs12377346Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0008822164 – 2339GSGSV…QDHWC → AGSAVGFPNTTPCCRETPSA SPWPLALELALTLTWGSVWT VRPLSTPCLRTLSLSRRLWP PTRAAPPGLPTCPP in isoform Alpha-1B-2. 1 PublicationAdd BLAST176

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M94172 mRNA Translation: AAA51897.1
M94173 mRNA Translation: AAA51898.1
AL591424 Genomic DNA No translation available.
AL772363 Genomic DNA No translation available.
U76666 Genomic DNA Translation: AAC51138.1
CCDSiCCDS59522.1 [Q00975-1]
CCDS59523.1 [Q00975-2]
PIRiA42566
T45115
RefSeqiNP_000709.1, NM_000718.3 [Q00975-1]
NP_001230741.1, NM_001243812.1 [Q00975-2]
UniGeneiHs.495522

Genome annotation databases

EnsembliENST00000277551; ENSP00000277551; ENSG00000148408 [Q00975-2]
ENST00000371372; ENSP00000360423; ENSG00000148408 [Q00975-1]
GeneIDi774
KEGGihsa:774
UCSCiuc064xny.1 human [Q00975-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCAC1B_HUMAN
AccessioniPrimary (citable) accession number: Q00975
Secondary accession number(s): B1AQK5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: September 12, 2018
This is version 178 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome
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Main funding by: National Institutes of Health

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