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Protein

Voltage-dependent L-type calcium channel subunit beta-1

Gene

CACNB1

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

Functioni

The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting.

GO - Molecular functioni

  • high voltage-gated calcium channel activity Source: GO_Central
  • voltage-gated calcium channel activity Source: ARUK-UCL

GO - Biological processi

  • cellular response to amyloid-beta Source: ARUK-UCL
  • chemical synaptic transmission Source: GO_Central
  • neuromuscular junction development Source: GO_Central
  • regulation of calcium ion transmembrane transport via high voltage-gated calcium channel Source: ARUK-UCL
  • regulation of voltage-gated calcium channel activity Source: GO_Central

Keywordsi

Molecular functionCalcium channel, Ion channel, Voltage-gated channel
Biological processCalcium transport, Ion transport, Transport
LigandCalcium

Enzyme and pathway databases

ReactomeiR-HSA-112308 Presynaptic depolarization and calcium channel opening
R-HSA-419037 NCAM1 interactions
R-HSA-5576892 Phase 0 - rapid depolarisation
R-HSA-5576893 Phase 2 - plateau phase

Names & Taxonomyi

Protein namesi
Recommended name:
Voltage-dependent L-type calcium channel subunit beta-1
Short name:
CAB1
Alternative name(s):
Calcium channel voltage-dependent subunit beta 1
Gene namesi
Name:CACNB1
Synonyms:CACNLB1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000067191.15
HGNCiHGNC:1401 CACNB1
MIMi114207 gene
neXtProtiNX_Q02641

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

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi782
OpenTargetsiENSG00000067191
PharmGKBiPA87

Chemistry databases

ChEMBLiCHEMBL2363032
DrugBankiDB04855 Dronedarone
DB00898 Ethanol
DB00308 Ibutilide
DB00653 Magnesium Sulfate
DB01388 Mibefradil
DB00393 Nimodipine
DB00421 Spironolactone
DB00661 Verapamil

Polymorphism and mutation databases

BioMutaiCACNB1
DMDMi20455481

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001440461 – 598Voltage-dependent L-type calcium channel subunit beta-1Add BLAST598

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei44PhosphoserineBy similarity1
Modified residuei47PhosphoserineBy similarity1
Modified residuei73PhosphoserineBy similarity1
Modified residuei186PhosphoserineBy similarity1
Modified residuei193PhosphoserineBy similarity1
Modified residuei499PhosphothreonineBy similarity1
Modified residuei547PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ02641
PaxDbiQ02641
PeptideAtlasiQ02641
PRIDEiQ02641

PTM databases

iPTMnetiQ02641
PhosphoSitePlusiQ02641

Expressioni

Tissue specificityi

Isoform 1 and isoform 3 are expressed in brain, heart, spleen, central nervous system and neuroblastoma cells. Isoform 2 is expressed in skeletal muscle.1 Publication

Gene expression databases

BgeeiENSG00000067191
CleanExiHS_CACNB1
ExpressionAtlasiQ02641 baseline and differential
GenevisibleiQ02641 HS

Organism-specific databases

HPAiHPA023343

Interactioni

Subunit structurei

The L-type calcium channel is composed of four subunits: alpha-1, alpha-2, beta and gamma. Interacts with JSRP1. Interacts with RYR1. Interacts with CBARP (By similarity).By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
CACNA1CQ139362EBI-15707950,EBI-1038838

Protein-protein interaction databases

BioGridi107236, 9 interactors
IntActiQ02641, 3 interactors
MINTiQ02641
STRINGi9606.ENSP00000377840

Structurei

3D structure databases

ProteinModelPortaliQ02641
SMRiQ02641
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini100 – 169SH3PROSITE-ProRule annotationAdd BLAST70

Sequence similaritiesi

Keywords - Domaini

SH3 domain

Phylogenomic databases

eggNOGiKOG3812 Eukaryota
ENOG410XRDI LUCA
GeneTreeiENSGT00390000002740
HOVERGENiHBG050765
InParanoidiQ02641
KOiK04862
OMAiRQGSWEE
OrthoDBiEOG091G09C1
PhylomeDBiQ02641
TreeFamiTF316195

Family and domain databases

InterProiView protein in InterPro
IPR008145 GK/Ca_channel_bsu
IPR027417 P-loop_NTPase
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
IPR005443 VDCC_L_b1su
IPR000584 VDCC_L_bsu
PANTHERiPTHR11824 PTHR11824, 1 hit
PfamiView protein in Pfam
PF00625 Guanylate_kin, 1 hit
PF12052 VGCC_beta4Aa_N, 1 hit
PRINTSiPR01626 LCACHANNELB
PR01627 LCACHANNELB1
SMARTiView protein in SMART
SM00072 GuKc, 1 hit
SUPFAMiSSF50044 SSF50044, 1 hit
SSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS50002 SH3, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q02641-1) [UniParc]FASTAAdd to basket
Also known as: Beta-1b2, BetaA, Beta-1B, Beta1-2

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
MVQKTSMSRG PYPPSQEIPM EVFDPSPQGK YSKRKGRFKR SDGSTSSDTT
60 70 80 90 100
SNSFVRQGSA ESYTSRPSDS DVSLEEDREA LRKEAERQAL AQLEKAKTKP
110 120 130 140 150
VAFAVRTNVG YNPSPGDEVP VQGVAITFEP KDFLHIKEKY NNDWWIGRLV
160 170 180 190 200
KEGCEVGFIP SPVKLDSLRL LQEQKLRQNR LGSSKSGDNS SSSLGDVVTG
210 220 230 240 250
TRRPTPPASA KQKQKSTEHV PPYDVVPSMR PIILVGPSLK GYEVTDMMQK
260 270 280 290 300
ALFDFLKHRF DGRISITRVT ADISLAKRSV LNNPSKHIII ERSNTRSSLA
310 320 330 340 350
EVQSEIERIF ELARTLQLVA LDADTINHPA QLSKTSLAPI IVYIKITSPK
360 370 380 390 400
VLQRLIKSRG KSQSKHLNVQ IAASEKLAQC PPEMFDIILD ENQLEDACEH
410 420 430 440 450
LAEYLEAYWK ATHPPSSTPP NPLLNRTMAT AALAASPAPV SNLQGPYLAS
460 470 480 490 500
GDQPLERATG EHASMHEYPG ELGQPPGLYP SSHPPGRAGT LRALSRQDTF
510 520 530 540 550
DADTPGSRNS AYTELGDSCV DMETDPSEGP GLGDPAGGGT PPARQGSWED
560 570 580 590
EEEDYEEELT DNRNRGRNKA RYCAEGGGPV LGRNKNELEG WGRGVYIR
Length:598
Mass (Da):65,714
Last modified:May 2, 2002 - v3
Checksum:i44FE4E3BA6F016FD
GO
Isoform 2 (identifier: Q02641-2) [UniParc]FASTAAdd to basket
Also known as: Beta-1M, BetaC, Beta-1a

The sequence of this isoform differs from the canonical sequence as follows:
     210-216: AKQKQKS → GNEMTNLAFELDPLELEEEEAELGEQSGSAKTSVSSVTTPPPHGKRIPFFKK
     445-478: GPYLASGDQPLERATGEHASMHEYPGELGQPPGL → VQVLTSLRRNLGFWGGLESSQRGSVVPQEQEHAM
     479-598: Missing.

Show »
Length:523
Mass (Da):57,864
Checksum:i9F8B7C748A65087C
GO
Isoform 3 (identifier: Q02641-3) [UniParc]FASTAAdd to basket
Also known as: Beta-1b1, BetaB, Beta-1c, Beta1-3

The sequence of this isoform differs from the canonical sequence as follows:
     445-478: GPYLASGDQPLERATGEHASMHEYPGELGQPPGL → VQVLTSLRRNLGFWGGLESSQRGSVVPQEQEHAM
     479-598: Missing.

Show »
Length:478
Mass (Da):53,006
Checksum:i1D0A53AE67443655
GO

Sequence cautioni

The sequence CAA79825 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti5 – 6TS → SG in AAA36167 (PubMed:7916667).Curated2
Sequence conflicti21E → G in AAA51894 (PubMed:1309651).Curated1
Sequence conflicti28Missing in AAA36168 (PubMed:7916667).Curated1
Sequence conflicti28Missing in AAA36169 (PubMed:7916667).Curated1
Sequence conflicti29G → R in AAA36167 (PubMed:7916667).Curated1
Sequence conflicti29G → R in AAA36168 (PubMed:7916667).Curated1
Sequence conflicti29G → R in AAA36169 (PubMed:7916667).Curated1
Sequence conflicti135H → D in AAA36167 (PubMed:7916667).Curated1
Sequence conflicti175 – 176KL → TV in AAA36167 (PubMed:7916667).Curated2
Sequence conflicti182G → S in AAA36167 (PubMed:7916667).Curated1
Sequence conflicti217T → S in AAA36167 (PubMed:7916667).Curated1
Sequence conflicti264I → T in AAH37311 (PubMed:15489334).Curated1
Sequence conflicti293 – 296SNTR → LQHT in AAA36167 (PubMed:7916667).Curated4
Sequence conflicti344I → L in AAA36167 (PubMed:7916667).Curated1
Sequence conflicti381P → H in AAH37311 (PubMed:15489334).Curated1
Sequence conflicti428M → I in AAA36167 (PubMed:7916667).Curated1
Sequence conflicti434 – 435AA → RR in AAA35631 (PubMed:1385409).Curated2
Sequence conflicti434 – 435AA → RR in AAA35632 (PubMed:1385409).Curated2
Sequence conflicti434 – 435AA → RR in AAA35633 (PubMed:1385409).Curated2
Sequence conflicti434 – 435AA → RR in AAB58779 (PubMed:10624822).Curated2
Sequence conflicti434 – 435AA → RR in AAB58780 (PubMed:10624822).Curated2
Sequence conflicti434 – 435AA → RR in AAB58781 (PubMed:10624822).Curated2
Sequence conflicti456E → D in AAA36167 (PubMed:7916667).Curated1
Sequence conflicti465M → V in AAA36167 (PubMed:7916667).Curated1
Sequence conflicti482S → N in AAA36167 (PubMed:7916667).Curated1
Sequence conflicti492R → W in AAA36167 (PubMed:7916667).Curated1
Sequence conflicti515L → P in AAA36167 (PubMed:7916667).Curated1
Sequence conflicti532L → P in AAA36167 (PubMed:7916667).Curated1
Sequence conflicti539 – 541GTP → A in AAA35633 (PubMed:1385409).Curated3
Sequence conflicti539 – 541GTP → A in AAB58781 (PubMed:10624822).Curated3
Sequence conflicti550Missing in AAA36167 (PubMed:7916667).Curated1
Sequence conflicti559L → M in AAA36167 (PubMed:7916667).Curated1
Sequence conflicti573 – 574CA → WP in AAA35633 (PubMed:1385409).Curated2
Sequence conflicti573 – 574CA → WP in AAB58781 (PubMed:10624822).Curated2
Sequence conflicti593R → Q in AAA36167 (PubMed:7916667).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_036349339P → L in a colorectal cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_000623210 – 216AKQKQKS → GNEMTNLAFELDPLELEEEE AELGEQSGSAKTSVSSVTTP PPHGKRIPFFKK in isoform 2. 2 Publications7
Alternative sequenceiVSP_000624445 – 478GPYLA…QPPGL → VQVLTSLRRNLGFWGGLESS QRGSVVPQEQEHAM in isoform 2 and isoform 3. 4 PublicationsAdd BLAST34
Alternative sequenceiVSP_000625479 – 598Missing in isoform 2 and isoform 3. 4 PublicationsAdd BLAST120

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M92303 mRNA Translation: AAA35633.1
M92301 mRNA Translation: AAA35631.1
M92302 mRNA Translation: AAA35632.1
M76560 mRNA Translation: AAA51894.1
L06110 mRNA Translation: AAA36167.1
L06111 mRNA Translation: AAA36168.1
L06112 mRNA Translation: AAA36169.1
AB054985 mRNA Translation: BAB21444.1
U86960
, U86952, U86953, U86954, U86955, U86956, U86957, U86958, U86959 Genomic DNA Translation: AAB58779.1
U86960
, U86952, U86953, U86954, U86955, U86956, U86957, U86958, U86959 Genomic DNA Translation: AAB58780.1
U86961
, U86952, U86953, U86954, U86955, U86956, U86957, U86958, U86959, U86960 Genomic DNA Translation: AAB58781.1 Sequence problems.
AK289729 mRNA Translation: BAF82418.1
CH471152 Genomic DNA Translation: EAW60562.1
BC037311 mRNA Translation: AAH37311.2
Z21725 Genomic DNA Translation: CAA79824.1
Z21726 Genomic DNA Translation: CAA79825.1 Different initiation.
CCDSiCCDS11334.1 [Q02641-2]
CCDS42311.1 [Q02641-1]
CCDS45665.1 [Q02641-3]
PIRiA44461
B44461
C44461
I38002
I52859
I65766
I65767
JH0566
RefSeqiNP_000714.3, NM_000723.4 [Q02641-1]
NP_954855.1, NM_199247.2 [Q02641-2]
NP_954856.1, NM_199248.2 [Q02641-3]
UniGeneiHs.635

Genome annotation databases

EnsembliENST00000344140; ENSP00000345461; ENSG00000067191 [Q02641-2]
ENST00000394303; ENSP00000377840; ENSG00000067191 [Q02641-1]
ENST00000394310; ENSP00000377847; ENSG00000067191 [Q02641-3]
GeneIDi782
KEGGihsa:782
UCSCiuc002hrm.2 human [Q02641-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCACB1_HUMAN
AccessioniPrimary (citable) accession number: Q02641
Secondary accession number(s): A8K114
, O15331, Q02639, Q02640, Q8N3X9, Q9C085, Q9UD79
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: May 2, 2002
Last modified: May 23, 2018
This is version 181 of the entry and version 3 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

Complete proteome, Reference proteome

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