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Q02641 (CACB1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 145. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Voltage-dependent L-type calcium channel subunit beta-1

Short name=CAB1
Alternative name(s):
Calcium channel voltage-dependent subunit beta 1
Gene names
Name:CACNB1
Synonyms:CACNLB1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length598 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

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

Subcellular location

Cell membranesarcolemma; Peripheral membrane protein; Cytoplasmic side.

Tissue specificity

Isoform 1 and isoform 3 are expressed in brain, heart, spleen, central nervous system and neuroblastoma cells. Isoform 2 is expressed in skeletal muscle. Ref.10

Sequence similarities

Belongs to the calcium channel beta subunit family.

Contains 1 SH3 domain.

Sequence caution

The sequence CAA79825.1 differs from that shown. Reason: Erroneous initiation.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q02641-1)

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.
Isoform 2 (identifier: Q02641-2)

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.
Isoform 3 (identifier: Q02641-3)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 598598Voltage-dependent L-type calcium channel subunit beta-1
PRO_0000144046

Regions

Domain100 – 16162SH3

Amino acid modifications

Modified residue4991Phosphothreonine By similarity

Natural variations

Alternative sequence210 – 2167AKQKQKS → GNEMTNLAFELDPLELEEEE AELGEQSGSAKTSVSSVTTP PPHGKRIPFFKK in isoform 2.
VSP_000623
Alternative sequence445 – 47834GPYLA…QPPGL → VQVLTSLRRNLGFWGGLESS QRGSVVPQEQEHAM in isoform 2 and isoform 3.
VSP_000624
Alternative sequence479 – 598120Missing in isoform 2 and isoform 3.
VSP_000625
Natural variant3391P → L in a colorectal cancer sample; somatic mutation. Ref.11
VAR_036349

Experimental info

Sequence conflict5 – 62TS → SG in AAA36167. Ref.3
Sequence conflict211E → G in AAA51894. Ref.2
Sequence conflict281Missing in AAA36168. Ref.3
Sequence conflict281Missing in AAA36169. Ref.3
Sequence conflict291G → R in AAA36167. Ref.3
Sequence conflict291G → R in AAA36168. Ref.3
Sequence conflict291G → R in AAA36169. Ref.3
Sequence conflict1351H → D in AAA36167. Ref.3
Sequence conflict175 – 1762KL → TV in AAA36167. Ref.3
Sequence conflict1821G → S in AAA36167. Ref.3
Sequence conflict2171T → S in AAA36167. Ref.3
Sequence conflict2641I → T in AAH37311. Ref.8
Sequence conflict293 – 2964SNTR → LQHT in AAA36167. Ref.3
Sequence conflict3441I → L in AAA36167. Ref.3
Sequence conflict3811P → H in AAH37311. Ref.8
Sequence conflict4281M → I in AAA36167. Ref.3
Sequence conflict434 – 4352AA → RR in AAA35631. Ref.1
Sequence conflict434 – 4352AA → RR in AAA35632. Ref.1
Sequence conflict434 – 4352AA → RR in AAA35633. Ref.1
Sequence conflict434 – 4352AA → RR in AAB58779. Ref.5
Sequence conflict434 – 4352AA → RR in AAB58780. Ref.5
Sequence conflict434 – 4352AA → RR in AAB58781. Ref.5
Sequence conflict4561E → D in AAA36167. Ref.3
Sequence conflict4651M → V in AAA36167. Ref.3
Sequence conflict4821S → N in AAA36167. Ref.3
Sequence conflict4921R → W in AAA36167. Ref.3
Sequence conflict5151L → P in AAA36167. Ref.3
Sequence conflict5321L → P in AAA36167. Ref.3
Sequence conflict539 – 5413GTP → A in AAA35633. Ref.1
Sequence conflict539 – 5413GTP → A in AAB58781. Ref.5
Sequence conflict5501Missing in AAA36167. Ref.3
Sequence conflict5591L → M in AAA36167. Ref.3
Sequence conflict573 – 5742CA → WP in AAA35633. Ref.1
Sequence conflict573 – 5742CA → WP in AAB58781. Ref.5
Sequence conflict5931R → Q in AAA36167. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (Beta-1b2) (BetaA) (Beta-1B) (Beta1-2) [UniParc].

Last modified May 2, 2002. Version 3.
Checksum: 44FE4E3BA6F016FD

FASTA59865,714
        10         20         30         40         50         60 
MVQKTSMSRG PYPPSQEIPM EVFDPSPQGK YSKRKGRFKR SDGSTSSDTT SNSFVRQGSA 

        70         80         90        100        110        120 
ESYTSRPSDS DVSLEEDREA LRKEAERQAL AQLEKAKTKP VAFAVRTNVG YNPSPGDEVP 

       130        140        150        160        170        180 
VQGVAITFEP KDFLHIKEKY NNDWWIGRLV KEGCEVGFIP SPVKLDSLRL LQEQKLRQNR 

       190        200        210        220        230        240 
LGSSKSGDNS SSSLGDVVTG TRRPTPPASA KQKQKSTEHV PPYDVVPSMR PIILVGPSLK 

       250        260        270        280        290        300 
GYEVTDMMQK ALFDFLKHRF DGRISITRVT ADISLAKRSV LNNPSKHIII ERSNTRSSLA 

       310        320        330        340        350        360 
EVQSEIERIF ELARTLQLVA LDADTINHPA QLSKTSLAPI IVYIKITSPK VLQRLIKSRG 

       370        380        390        400        410        420 
KSQSKHLNVQ IAASEKLAQC PPEMFDIILD ENQLEDACEH LAEYLEAYWK ATHPPSSTPP 

       430        440        450        460        470        480 
NPLLNRTMAT AALAASPAPV SNLQGPYLAS GDQPLERATG EHASMHEYPG ELGQPPGLYP 

       490        500        510        520        530        540 
SSHPPGRAGT LRALSRQDTF DADTPGSRNS AYTELGDSCV DMETDPSEGP GLGDPAGGGT 

       550        560        570        580        590 
PPARQGSWED EEEDYEEELT DNRNRGRNKA RYCAEGGGPV LGRNKNELEG WGRGVYIR 

« Hide

Isoform 2 (Beta-1M) (BetaC) (Beta-1a) [UniParc].

Checksum: 9F8B7C748A65087C
Show »

FASTA52357,864
Isoform 3 (Beta-1b1) (BetaB) (Beta-1c) (Beta1-3) [UniParc].

Checksum: 1D0A53AE67443655
Show »

FASTA47853,006

References

« Hide 'large scale' references
[1]"Skeletal muscle and brain isoforms of a beta-subunit of human voltage-dependent calcium channels are encoded by a single gene."
Powers P.A., Liu S., Hogan K., Gregg R.G.
J. Biol. Chem. 267:22967-22972(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3).
Tissue: Hippocampus and Skeletal muscle.
[2]"Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtype."
Williams M.E., Feldman D.H., McCue A.F., Brenner R., Velicelebi G., Ellis S.B., Harpold M.M.
Neuron 8:71-84(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
[3]"Molecular cloning of three isoforms of the L-type voltage-dependent calcium channel beta subunit from normal human heart."
Collin T., Wang J., Nargeot J., Schwartz A.
Circ. Res. 72:1337-1344(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3).
Tissue: Heart.
[4]"Cyclic AMP-dependent modulation of N- and Q-type Ca2+ channels expressed in Xenopus oocytes."
Fukuda K., Kaneko S., Yada N., Kikuwaka M., Akaike A., Satoh M.
Neurosci. Lett. 217:13-16(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Brain cortex.
[5]"Structure and alternative splicing of the gene encoding the human beta1 subunit of voltage dependent calcium channels."
Hogan K., Greg R.G., Powers P.A.
Neurosci. Lett. 277:111-114(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1; 2 AND 3).
[6]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[7]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Hippocampus.
[9]"Genetic mapping of the beta 1- and gamma-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility."
Iles D.E., Segers B., Sengers R.C.A., Monsieurs K., Heytens L., Halsall P.J., Hopkins P.M., Ellis F.R., Hall-Curran J.L., Stewart A.D., Wieringa B.
Hum. Mol. Genet. 2:863-868(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 146-209.
[10]"Human neuronal voltage-dependent calcium channels: studies on subunit structure and role in channel assembly."
Brust P.F., Simerson S., McCue A.F., Deal C.R., Schoonmaker S., Williams M.E., Velicelebi G., Johnson E.C., Harpold M.M., Ellis S.B.
Neuropharmacology 32:1089-1102(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 445-598 (ISOFORMS 1 AND 3), TISSUE SPECIFICITY, ALTERNATIVE SPLICING.
[11]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] LEU-339.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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 expand/collapse EMBL AC list , U86952, U86953, U86954, U86955, U86956, U86957, U86958, U86959 Genomic DNA. Translation: AAB58779.1.
U86960 expand/collapse EMBL AC list , U86952, U86953, U86954, U86955, U86956, U86957, U86958, U86959 Genomic DNA. Translation: AAB58780.1.
U86961 expand/collapse EMBL AC list , 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.
PIRA44461.
B44461.
C44461.
I38002.
I52859.
I65766.
I65767.
JH0566.
RefSeqNP_000714.3. NM_000723.4.
NP_954855.1. NM_199247.2.
NP_954856.1. NM_199248.2.
UniGeneHs.635.

3D structure databases

ProteinModelPortalQ02641.
SMRQ02641. Positions 58-417.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107236. 5 interactions.
IntActQ02641. 2 interactions.
MINTMINT-2857287.
STRING9606.ENSP00000377840.

Chemistry

ChEMBLCHEMBL2363032.
DrugBankDB00308. Ibutilide.
DB00653. Magnesium Sulfate.
DB01388. Mibefradil.
DB00661. Verapamil.

PTM databases

PhosphoSiteQ02641.

Polymorphism databases

DMDM20455481.

Proteomic databases

PaxDbQ02641.
PRIDEQ02641.

Protocols and materials databases

DNASU782.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000344140; ENSP00000345461; ENSG00000067191. [Q02641-2]
ENST00000394303; ENSP00000377840; ENSG00000067191. [Q02641-1]
ENST00000394310; ENSP00000377847; ENSG00000067191. [Q02641-3]
GeneID782.
KEGGhsa:782.
UCSCuc002hrl.1. human. [Q02641-1]
uc002hrn.3. human. [Q02641-3]
uc002hro.3. human. [Q02641-2]

Organism-specific databases

CTD782.
GeneCardsGC17M037329.
HGNCHGNC:1401. CACNB1.
HPACAB009779.
HPA023343.
MIM114207. gene.
neXtProtNX_Q02641.
PharmGKBPA87.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG326500.
HOVERGENHBG050765.
KOK04862.
OMAVSNLQVQ.
OrthoDBEOG7966G4.
PhylomeDBQ02641.
TreeFamTF316195.

Enzyme and pathway databases

ReactomeREACT_111045. Developmental Biology.
REACT_13685. Neuronal System.

Gene expression databases

BgeeQ02641.
CleanExHS_CACNB1.
GenevestigatorQ02641.

Family and domain databases

Gene3D3.40.50.300. 1 hit.
InterProIPR008145. GK/Ca_channel_bsu.
IPR027417. P-loop_NTPase.
IPR001452. SH3_domain.
IPR005443. VDCC_L_b1su.
IPR000584. VDCC_L_bsu.
[Graphical view]
PANTHERPTHR11824. PTHR11824. 1 hit.
PfamPF00625. Guanylate_kin. 1 hit.
PF12052. VGCC_beta4Aa_N. 1 hit.
[Graphical view]
PRINTSPR01626. LCACHANNELB.
PR01627. LCACHANNELB1.
SMARTSM00072. GuKc. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view]
SUPFAMSSF50044. SSF50044. 1 hit.
SSF52540. SSF52540. 1 hit.
PROSITEPS50002. SH3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiCACNB1.
GenomeRNAi782.
NextBio3164.
PROQ02641.
SOURCESearch...

Entry information

Entry nameCACB1_HUMAN
AccessionPrimary (citable) accession number: Q02641
Secondary accession number(s): A8K114 expand/collapse secondary AC list , O15331, Q02639, Q02640, Q8N3X9, Q9C085, Q9UD79
Entry history
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: May 2, 2002
Last modified: April 16, 2014
This is version 145 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM