UniProtKB - Q00975 (CAC1B_HUMAN)
Voltage-dependent N-type calcium channel subunit alpha-1B
CACNA1B
Functioni
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 314 | Calcium ion selectivity and permeabilityBy similarity | 1 | |
Sitei | 663 | Calcium ion selectivity and permeabilityBy similarity | 1 | |
Sitei | 1365 | Calcium ion selectivity and permeabilityBy similarity | 1 | |
Sitei | 1655 | Calcium ion selectivity and permeabilityBy similarity | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 451 – 458 | ATPSequence analysis | 8 | |
Calcium bindingi | 1737 – 1748 | PROSITE-ProRule annotationAdd BLAST | 12 |
GO - Molecular functioni
- amyloid-beta binding Source: ARUK-UCL
- ATP binding Source: UniProtKB-KW
- calcium ion binding Source: InterPro
- high voltage-gated calcium channel activity Source: ARUK-UCL
- protein C-terminus binding Source: UniProtKB
- voltage-gated calcium channel activity Source: GO_Central
GO - Biological processi
- calcium ion import Source: GO_Central
- calcium ion transport Source: GO_Central
- chemical synaptic transmission Source: GO_Central
- locomotory behavior Source: Ensembl
- membrane depolarization Source: Reactome
- modulation of chemical synaptic transmission Source: ARUK-UCL
- neurotransmitter secretion Source: Ensembl
- regulation of blood pressure Source: Ensembl
- regulation of calcium ion transport Source: Ensembl
- regulation of heart contraction Source: Ensembl
- regulation of ion transmembrane transport Source: UniProtKB-KW
- response to amyloid-beta Source: ARUK-UCL
- response to pain Source: Ensembl
Keywordsi
Molecular function | Calcium channel, Ion channel, Voltage-gated channel |
Biological process | Calcium transport, Ion transport, Transport |
Ligand | ATP-binding, Calcium, Metal-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | Q00975 |
Reactomei | R-HSA-112308, Presynaptic depolarization and calcium channel opening |
SIGNORi | Q00975 |
Names & Taxonomyi
Protein namesi | Recommended name: Voltage-dependent N-type calcium channel subunit alpha-1BAlternative 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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000148408.12 |
HGNCi | HGNC:1389, CACNA1B |
MIMi | 601012, gene |
neXtProti | NX_Q00975 |
Subcellular locationi
Other locations
Plasma Membrane
- plasma membrane Source: Reactome
- voltage-gated calcium channel complex Source: ProtInc
Other locations
- dendrite Source: Ensembl
- neuronal cell body Source: Ensembl
- presynapse Source: GOC
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 95 | CytoplasmicSequence analysisAdd BLAST | 95 | |
Transmembranei | 96 – 114 | Helical; Name=S1 of repeat ISequence analysisAdd BLAST | 19 | |
Topological domaini | 115 – 132 | ExtracellularSequence analysisAdd BLAST | 18 | |
Transmembranei | 133 – 152 | Helical; Name=S2 of repeat ISequence analysisAdd BLAST | 20 | |
Topological domaini | 153 – 163 | CytoplasmicSequence analysisAdd BLAST | 11 | |
Transmembranei | 164 – 183 | Helical; Name=S3 of repeat ISequence analysisAdd BLAST | 20 | |
Topological domaini | 184 – 187 | ExtracellularSequence analysis | 4 | |
Transmembranei | 188 – 206 | Helical; Name=S4 of repeat ISequence analysisAdd BLAST | 19 | |
Topological domaini | 207 – 225 | CytoplasmicSequence analysisAdd BLAST | 19 | |
Transmembranei | 226 – 245 | Helical; Name=S5 of repeat ISequence analysisAdd BLAST | 20 | |
Topological domaini | 246 – 331 | ExtracellularSequence analysisAdd BLAST | 86 | |
Transmembranei | 332 – 356 | Helical; Name=S6 of repeat ISequence analysisAdd BLAST | 25 | |
Topological domaini | 357 – 482 | CytoplasmicSequence analysisAdd BLAST | 126 | |
Transmembranei | 483 – 501 | Helical; Name=S1 of repeat IISequence analysisAdd BLAST | 19 | |
Topological domaini | 502 – 516 | ExtracellularSequence analysisAdd BLAST | 15 | |
Transmembranei | 517 – 536 | Helical; Name=S2 of repeat IISequence analysisAdd BLAST | 20 | |
Topological domaini | 537 – 544 | CytoplasmicSequence analysis | 8 | |
Transmembranei | 545 – 562 | Helical; Name=S3 of repeat IISequence analysisAdd BLAST | 18 | |
Topological domaini | 563 – 573 | ExtracellularSequence analysisAdd BLAST | 11 | |
Transmembranei | 574 – 592 | Helical; Name=S4 of repeat IISequence analysisAdd BLAST | 19 | |
Topological domaini | 593 – 611 | CytoplasmicSequence analysisAdd BLAST | 19 | |
Transmembranei | 612 – 631 | Helical; Name=S5 of repeat IISequence analysisAdd BLAST | 20 | |
Topological domaini | 632 – 684 | ExtracellularSequence analysisAdd BLAST | 53 | |
Transmembranei | 685 – 709 | Helical; Name=S6 of repeat IISequence analysisAdd BLAST | 25 | |
Topological domaini | 710 – 1151 | CytoplasmicSequence analysisAdd BLAST | 442 | |
Transmembranei | 1152 – 1169 | Helical; Name=S1 of repeat IIISequence analysisAdd BLAST | 18 | |
Topological domaini | 1170 – 1185 | ExtracellularSequence analysisAdd BLAST | 16 | |
Transmembranei | 1186 – 1205 | Helical; Name=S2 of repeat IIISequence analysisAdd BLAST | 20 | |
Topological domaini | 1206 – 1217 | CytoplasmicSequence analysisAdd BLAST | 12 | |
Transmembranei | 1218 – 1236 | Helical; Name=S3 of repeat IIISequence analysisAdd BLAST | 19 | |
Topological domaini | 1237 – 1246 | ExtracellularSequence analysis | 10 | |
Transmembranei | 1247 – 1265 | Helical; Name=S4 of repeat IIISequence analysisAdd BLAST | 19 | |
Topological domaini | 1266 – 1284 | CytoplasmicSequence analysisAdd BLAST | 19 | |
Transmembranei | 1285 – 1304 | Helical; Name=S5 of repeat IIISequence analysisAdd BLAST | 20 | |
Topological domaini | 1305 – 1391 | ExtracellularSequence analysisAdd BLAST | 87 | |
Transmembranei | 1392 – 1416 | Helical; Name=S6 of repeat IIISequence analysisAdd BLAST | 25 | |
Topological domaini | 1417 – 1471 | CytoplasmicSequence analysisAdd BLAST | 55 | |
Transmembranei | 1472 – 1490 | Helical; Name=S1 of repeat IVSequence analysisAdd BLAST | 19 | |
Topological domaini | 1491 – 1505 | ExtracellularSequence analysisAdd BLAST | 15 | |
Transmembranei | 1506 – 1525 | Helical; Name=S2 of repeat IVSequence analysisAdd BLAST | 20 | |
Topological domaini | 1526 – 1533 | CytoplasmicSequence analysis | 8 | |
Transmembranei | 1534 – 1552 | Helical; Name=S3 of repeat IVSequence analysisAdd BLAST | 19 | |
Topological domaini | 1553 – 1563 | ExtracellularSequence analysisAdd BLAST | 11 | |
Transmembranei | 1564 – 1582 | Helical; Name=S4 of repeat IVSequence analysisAdd BLAST | 19 | |
Topological domaini | 1583 – 1601 | CytoplasmicSequence analysisAdd BLAST | 19 | |
Transmembranei | 1602 – 1621 | Helical; Name=S5 of repeat IVSequence analysisAdd BLAST | 20 | |
Topological domaini | 1622 – 1683 | ExtracellularSequence analysisAdd BLAST | 62 | |
Transmembranei | 1684 – 1708 | Helical; Name=S6 of repeat IVSequence analysisAdd BLAST | 25 | |
Topological domaini | 1709 – 2339 | CytoplasmicSequence analysisAdd BLAST | 631 |
Keywords - Cellular componenti
MembranePathology & Biotechi
Involvement in diseasei
Neurodevelopmental disorder with seizures and non-epileptic hyperkinetic movements (NEDNEH)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083051 | 383 – 2339 | Missing in NEDNEH. 1 PublicationAdd BLAST | 1957 |
Keywords - Diseasei
Disease mutation, Epilepsy, Mental retardationOrganism-specific databases
DisGeNETi | 774 |
MalaCardsi | CACNA1B |
MIMi | 618497, phenotype |
OpenTargetsi | ENSG00000148408 |
Orphaneti | 442835, Undetermined early-onset epileptic encephalopathy |
PharmGKBi | PA26008 |
Miscellaneous databases
Pharosi | Q00975, Tclin |
Chemistry databases
ChEMBLi | CHEMBL4478 |
DrugBanki | DB08838, Agmatine DB00381, Amlodipine DB09231, Benidipine DB13746, Bioallethrin DB11148, Butamben DB09232, Cilnidipine DB05950, Contulakin-G DB00228, Enflurane DB00153, Ergocalciferol DB00996, Gabapentin DB01202, Levetiracetam DB05885, Seletracetam DB00421, Spironolactone DB00661, Verapamil DB06283, Ziconotide |
DrugCentrali | Q00975 |
GuidetoPHARMACOLOGYi | 533 |
Polymorphism and mutation databases
BioMutai | CACNA1B |
DMDMi | 1705854 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000053921 | 1 – 2339 | Voltage-dependent N-type calcium channel subunit alpha-1BAdd BLAST | 2339 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 22 | Omega-N-methylarginineBy similarity | 1 | |
Glycosylationi | 256 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 411 | PhosphoserineBy similarity | 1 | |
Modified residuei | 745 | PhosphoserineBy similarity | 1 | |
Modified residuei | 748 | PhosphoserineBy similarity | 1 | |
Modified residuei | 783 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1069 | PhosphoserineBy similarity | 1 | |
Glycosylationi | 1563 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1675 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 2066 | PhosphoserineBy similarity | 1 | |
Modified residuei | 2224 | PhosphoserineBy similarity | 1 | |
Modified residuei | 2233 | PhosphoserineBy similarity | 1 | |
Modified residuei | 2256 | PhosphoserineBy similarity | 1 |
Post-translational modificationi
Keywords - PTMi
Disulfide bond, Glycoprotein, Methylation, PhosphoproteinProteomic databases
jPOSTi | Q00975 |
MassIVEi | Q00975 |
PaxDbi | Q00975 |
PeptideAtlasi | Q00975 |
PRIDEi | Q00975 |
ProteomicsDBi | 57886 [Q00975-1] 57887 [Q00975-2] |
PTM databases
GlyGeni | Q00975, 3 sites |
iPTMneti | Q00975 |
PhosphoSitePlusi | Q00975 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000148408, Expressed in middle temporal gyrus and 113 other tissues |
ExpressionAtlasi | Q00975, baseline and differential |
Genevisiblei | Q00975, HS |
Organism-specific databases
HPAi | ENSG00000148408, Group enriched (adrenal gland, brain, fallopian tube, pituitary gland, testis) |
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 decrease in the number of presynaptic functional CACNA1B channels at the cell surface.
Interacts with the omega-conotoxin-GVIA (AC P01522) (By similarity).
By similarityBinary interactionsi
Hide detailsQ00975
With | #Exp. | IntAct |
---|---|---|
RXRB [P28702] | 3 | EBI-1055161,EBI-748576 |
Ppm1a [P20650] from Rattus norvegicus. | 3 | EBI-1055161,EBI-7491743 |
GO - Molecular functioni
- protein C-terminus binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 107228, 9 interactors |
IntActi | Q00975, 8 interactors |
MINTi | Q00975 |
STRINGi | 9606.ENSP00000360423 |
Chemistry databases
BindingDBi | Q00975 |
Miscellaneous databases
RNActi | Q00975, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q00975 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 82 – 359 | IAdd BLAST | 278 | |
Repeati | 468 – 712 | IIAdd BLAST | 245 | |
Repeati | 1137 – 1419 | IIIAdd BLAST | 283 | |
Repeati | 1456 – 1711 | IVAdd BLAST | 256 | |
Domaini | 1724 – 1759 | EF-handPROSITE-ProRule annotationAdd BLAST | 36 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 379 – 396 | Binding to the beta subunitBy similarityAdd BLAST | 18 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 2050 – 2054 | Poly-His | 5 | |
Compositional biasi | 2118 – 2122 | Poly-Ser | 5 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Repeat, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG2301, Eukaryota |
GeneTreei | ENSGT00940000155275 |
InParanoidi | Q00975 |
OrthoDBi | 172471at2759 |
PhylomeDBi | Q00975 |
Family and domain databases
Gene3Di | 1.20.120.350, 4 hits |
InterProi | View 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 |
PANTHERi | PTHR45628:SF6, PTHR45628:SF6, 1 hit |
Pfami | View protein in Pfam PF08763, Ca_chan_IQ, 1 hit PF16905, GPHH, 1 hit PF00520, Ion_trans, 4 hits |
PRINTSi | PR00167, CACHANNEL PR01631, NVDCCALPHA1 |
SMARTi | View protein in SMART SM01062, Ca_chan_IQ, 1 hit |
PROSITEi | View protein in PROSITE PS50222, EF_HAND_2, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
The sequence of this isoform differs from the canonical sequence as follows:
2164-2339: GSGSVNGSPL...YHHPDQDHWC → AGSAVGFPNT...APPGLPTCPP
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF6RH32 | F6RH32_HUMAN | Voltage-dependent N-type calcium ch... | CACNA1B | 2,340 | Annotation score: | ||
B1AQK6 | B1AQK6_HUMAN | Voltage-dependent N-type calcium ch... | CACNA1B | 2,337 | Annotation score: | ||
B1AQK7 | B1AQK7_HUMAN | Voltage-dependent N-type calcium ch... | CACNA1B | 2,338 | Annotation score: | ||
E9PDR3 | E9PDR3_HUMAN | Voltage-dependent N-type calcium ch... | CACNA1B | 2,237 | Annotation score: | ||
H0Y7I8 | H0Y7I8_HUMAN | Voltage-dependent N-type calcium ch... | CACNA1B | 164 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Isoform Alpha-1B-2 (identifier: Q00975-2) | |||||
Sequence conflicti | 2215 | L → R in AAA51898 (PubMed:1321501).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_048741 | 167 | N → K. Corresponds to variant dbSNP:rs4422842EnsemblClinVar. | 1 | |
Natural variantiVAR_083051 | 383 – 2339 | Missing in NEDNEH. 1 PublicationAdd BLAST | 1957 | |
Natural variantiVAR_061100 | 862 | A → S. Corresponds to variant dbSNP:rs7873074Ensembl. | 1 | |
Natural variantiVAR_061101 | 996 | T → A. Corresponds to variant dbSNP:rs11137342EnsemblClinVar. | 1 | |
Natural variantiVAR_073432 | 1389 | R → H Found in a family with myoclonus and dystonia; also found in a sporadic case; unknown pathological significance; single-channel currents of the mutant are smaller than wild type, likely due to channel stabilization in the lower current amplitude open state; voltage-dependent activation and inactivation as well as ion selectivity are unchanged. 1 PublicationCorresponds to variant dbSNP:rs184841813EnsemblClinVar. | 1 | |
Natural variantiVAR_048742 | 1436 | E → K. Corresponds to variant dbSNP:rs1322525317Ensembl. | 1 | |
Natural variantiVAR_048743 | 1500 | E → K. Corresponds to variant dbSNP:rs12377346Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_000882 | 2164 – 2339 | GSGSV…QDHWC → AGSAVGFPNTTPCCRETPSA SPWPLALELALTLTWGSVWT VRPLSTPCLRTLSLSRRLWP PTRAAPPGLPTCPP in isoform Alpha-1B-2. 1 PublicationAdd BLAST | 176 |
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 |
CCDSi | CCDS59522.1 [Q00975-1] CCDS59523.1 [Q00975-2] |
PIRi | A42566 T45115 |
RefSeqi | NP_000709.1, NM_000718.3 [Q00975-1] NP_001230741.1, NM_001243812.1 [Q00975-2] |
Genome annotation databases
Ensembli | ENST00000277551; ENSP00000277551; ENSG00000148408 [Q00975-2] ENST00000371372; ENSP00000360423; ENSG00000148408 [Q00975-1] |
GeneIDi | 774 |
KEGGi | hsa:774 |
UCSCi | uc064xny.1, human [Q00975-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
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 |
CCDSi | CCDS59522.1 [Q00975-1] CCDS59523.1 [Q00975-2] |
PIRi | A42566 T45115 |
RefSeqi | NP_000709.1, NM_000718.3 [Q00975-1] NP_001230741.1, NM_001243812.1 [Q00975-2] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2LCM | NMR | - | A | 1242-1269 | [»] | |
SMRi | Q00975 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 107228, 9 interactors |
IntActi | Q00975, 8 interactors |
MINTi | Q00975 |
STRINGi | 9606.ENSP00000360423 |
Chemistry databases
BindingDBi | Q00975 |
ChEMBLi | CHEMBL4478 |
DrugBanki | DB08838, Agmatine DB00381, Amlodipine DB09231, Benidipine DB13746, Bioallethrin DB11148, Butamben DB09232, Cilnidipine DB05950, Contulakin-G DB00228, Enflurane DB00153, Ergocalciferol DB00996, Gabapentin DB01202, Levetiracetam DB05885, Seletracetam DB00421, Spironolactone DB00661, Verapamil DB06283, Ziconotide |
DrugCentrali | Q00975 |
GuidetoPHARMACOLOGYi | 533 |
PTM databases
GlyGeni | Q00975, 3 sites |
iPTMneti | Q00975 |
PhosphoSitePlusi | Q00975 |
Polymorphism and mutation databases
BioMutai | CACNA1B |
DMDMi | 1705854 |
Proteomic databases
jPOSTi | Q00975 |
MassIVEi | Q00975 |
PaxDbi | Q00975 |
PeptideAtlasi | Q00975 |
PRIDEi | Q00975 |
ProteomicsDBi | 57886 [Q00975-1] 57887 [Q00975-2] |
Protocols and materials databases
Antibodypediai | 32538, 120 antibodies |
Genome annotation databases
Ensembli | ENST00000277551; ENSP00000277551; ENSG00000148408 [Q00975-2] ENST00000371372; ENSP00000360423; ENSG00000148408 [Q00975-1] |
GeneIDi | 774 |
KEGGi | hsa:774 |
UCSCi | uc064xny.1, human [Q00975-1] |
Organism-specific databases
CTDi | 774 |
DisGeNETi | 774 |
EuPathDBi | HostDB:ENSG00000148408.12 |
GeneCardsi | CACNA1B |
HGNCi | HGNC:1389, CACNA1B |
HPAi | ENSG00000148408, Group enriched (adrenal gland, brain, fallopian tube, pituitary gland, testis) |
MalaCardsi | CACNA1B |
MIMi | 601012, gene 618497, phenotype |
neXtProti | NX_Q00975 |
OpenTargetsi | ENSG00000148408 |
Orphaneti | 442835, Undetermined early-onset epileptic encephalopathy |
PharmGKBi | PA26008 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2301, Eukaryota |
GeneTreei | ENSGT00940000155275 |
InParanoidi | Q00975 |
OrthoDBi | 172471at2759 |
PhylomeDBi | Q00975 |
Enzyme and pathway databases
PathwayCommonsi | Q00975 |
Reactomei | R-HSA-112308, Presynaptic depolarization and calcium channel opening |
SIGNORi | Q00975 |
Miscellaneous databases
BioGRID-ORCSi | 774, 5 hits in 838 CRISPR screens |
ChiTaRSi | CACNA1B, human |
GeneWikii | N-type_calcium_channel |
GenomeRNAii | 774 |
Pharosi | Q00975, Tclin |
PROi | PR:Q00975 |
RNActi | Q00975, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000148408, Expressed in middle temporal gyrus and 113 other tissues |
ExpressionAtlasi | Q00975, baseline and differential |
Genevisiblei | Q00975, HS |
Family and domain databases
Gene3Di | 1.20.120.350, 4 hits |
InterProi | View 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 |
PANTHERi | PTHR45628:SF6, PTHR45628:SF6, 1 hit |
Pfami | View protein in Pfam PF08763, Ca_chan_IQ, 1 hit PF16905, GPHH, 1 hit PF00520, Ion_trans, 4 hits |
PRINTSi | PR00167, CACHANNEL PR01631, NVDCCALPHA1 |
SMARTi | View protein in SMART SM01062, Ca_chan_IQ, 1 hit |
PROSITEi | View protein in PROSITE PS50222, EF_HAND_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CAC1B_HUMAN | |
Accessioni | Q00975Primary (citable) accession number: Q00975 Secondary accession number(s): B1AQK5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1996 |
Last sequence update: | October 1, 1996 | |
Last modified: | December 2, 2020 | |
This is version 194 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Reference proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations