Q02641 (CACB1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 136.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | 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 names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 598 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence 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 membrane › sarcolemma; 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. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Calcium transport Ion transport Transport |
| Cellular component | Cell membrane Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | SH3 domain |
| Ligand | Calcium |
| Molecular function | Calcium channel Ion channel Voltage-gated channel |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | axon guidance Traceable author statement. Source: Reactome protein targeting to membraneInferred from electronic annotation. Source: Compara |
| Cellular_component | T-tubule Inferred from electronic annotation. Source: Compara sarcoplasmic reticulumInferred from electronic annotation. Source: Compara voltage-gated calcium channel complexTraceable author statement Ref.1. Source: ProtInc |
| Molecular_function | high voltage-gated calcium channel activity Inferred from electronic annotation. Source: Compara voltage-gated calcium channel activityTraceable author statement Ref.1. Source: ProtInc |
| Complete GO annotation... | |
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 key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 598 | 598 | Voltage-dependent L-type calcium channel subunit beta-1 | PRO_0000144046 | |||||
Regions | |||||||||
| Domain | 100 – 161 | 62 | SH3 | ||||||
Amino acid modifications | |||||||||
| Modified residue | 186 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 499 | 1 | Phosphothreonine By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 210 – 216 | 7 | AKQKQKS → GNEMTNLAFELDPLELEEEE AELGEQSGSAKTSVSSVTTP PPHGKRIPFFKK in isoform 2. | VSP_000623 | |||||
| Alternative sequence | 445 – 478 | 34 | GPYLA…QPPGL → VQVLTSLRRNLGFWGGLESS QRGSVVPQEQEHAM in isoform 2 and isoform 3. | VSP_000624 | |||||
| Alternative sequence | 479 – 598 | 120 | Missing in isoform 2 and isoform 3. | VSP_000625 | |||||
| Natural variant | 339 | 1 | P → L in a colorectal cancer sample; somatic mutation. Ref.11 | VAR_036349 | |||||
Experimental info | |||||||||
| Sequence conflict | 5 – 6 | 2 | TS → SG in AAA36167. Ref.3 | ||||||
| Sequence conflict | 21 | 1 | E → G in AAA51894. Ref.2 | ||||||
| Sequence conflict | 28 | 1 | Missing in AAA36168. Ref.3 | ||||||
| Sequence conflict | 28 | 1 | Missing in AAA36169. Ref.3 | ||||||
| Sequence conflict | 29 | 1 | G → R in AAA36167. Ref.3 | ||||||
| Sequence conflict | 29 | 1 | G → R in AAA36168. Ref.3 | ||||||
| Sequence conflict | 29 | 1 | G → R in AAA36169. Ref.3 | ||||||
| Sequence conflict | 135 | 1 | H → D in AAA36167. Ref.3 | ||||||
| Sequence conflict | 175 – 176 | 2 | KL → TV in AAA36167. Ref.3 | ||||||
| Sequence conflict | 182 | 1 | G → S in AAA36167. Ref.3 | ||||||
| Sequence conflict | 217 | 1 | T → S in AAA36167. Ref.3 | ||||||
| Sequence conflict | 264 | 1 | I → T in AAH37311. Ref.8 | ||||||
| Sequence conflict | 293 – 296 | 4 | SNTR → LQHT in AAA36167. Ref.3 | ||||||
| Sequence conflict | 344 | 1 | I → L in AAA36167. Ref.3 | ||||||
| Sequence conflict | 381 | 1 | P → H in AAH37311. Ref.8 | ||||||
| Sequence conflict | 428 | 1 | M → I in AAA36167. Ref.3 | ||||||
| Sequence conflict | 434 – 435 | 2 | AA → RR in AAA35631. Ref.1 | ||||||
| Sequence conflict | 434 – 435 | 2 | AA → RR in AAA35632. Ref.1 | ||||||
| Sequence conflict | 434 – 435 | 2 | AA → RR in AAA35633. Ref.1 | ||||||
| Sequence conflict | 434 – 435 | 2 | AA → RR in AAB58779. Ref.5 | ||||||
| Sequence conflict | 434 – 435 | 2 | AA → RR in AAB58780. Ref.5 | ||||||
| Sequence conflict | 434 – 435 | 2 | AA → RR in AAB58781. Ref.5 | ||||||
| Sequence conflict | 456 | 1 | E → D in AAA36167. Ref.3 | ||||||
| Sequence conflict | 465 | 1 | M → V in AAA36167. Ref.3 | ||||||
| Sequence conflict | 482 | 1 | S → N in AAA36167. Ref.3 | ||||||
| Sequence conflict | 492 | 1 | R → W in AAA36167. Ref.3 | ||||||
| Sequence conflict | 515 | 1 | L → P in AAA36167. Ref.3 | ||||||
| Sequence conflict | 532 | 1 | L → P in AAA36167. Ref.3 | ||||||
| Sequence conflict | 539 – 541 | 3 | GTP → A in AAA35633. Ref.1 | ||||||
| Sequence conflict | 539 – 541 | 3 | GTP → A in AAB58781. Ref.5 | ||||||
| Sequence conflict | 550 | 1 | Missing in AAA36167. Ref.3 | ||||||
| Sequence conflict | 559 | 1 | L → M in AAA36167. Ref.3 | ||||||
| Sequence conflict | 573 – 574 | 2 | CA → WP in AAA35633. Ref.1 | ||||||
| Sequence conflict | 573 – 574 | 2 | CA → WP in AAB58781. Ref.5 | ||||||
| Sequence conflict | 593 | 1 | R → Q in AAA36167. Ref.3 | ||||||
Sequences
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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. 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. 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. 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 U86959 Genomic DNA. Translation: AAB58779.1.U86960 U86959 Genomic DNA. Translation: AAB58780.1.U86961 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. |
| IPI | IPI00183965. IPI00219983. IPI00219984. |
| PIR | A44461. B44461. C44461. I38002. I52859. I65766. I65767. JH0566. |
| RefSeq | NP_000714.3. NM_000723.4. NP_954855.1. NM_199247.2. NP_954856.1. NM_199248.2. |
| UniGene | Hs.635. |
3D structure databases | |
| ProteinModelPortal | Q02641. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q02641. 1 interaction. |
| MINT | MINT-2857287. |
| STRING | 9606.ENSP00000377840. |
PTM databases | |
| PhosphoSite | Q02641. |
Polymorphism databases | |
| DMDM | 20455481. |
Proteomic databases | |
| PaxDb | Q02641. |
| PRIDE | Q02641. |
Protocols and materials databases | |
| DNASU | 782. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000344140; ENSP00000345461; ENSG00000067191. ENST00000394303; ENSP00000377840; ENSG00000067191. ENST00000394310; ENSP00000377847; ENSG00000067191. |
| GeneID | 782. |
| KEGG | hsa:782. |
| UCSC | uc002hrl.1. human. uc002hrn.3. human. uc002hro.3. human. |
Organism-specific databases | |
| CTD | 782. |
| GeneCards | GC17M037329. |
| HGNC | HGNC:1401. CACNB1. |
| HPA | CAB009779. HPA023343. |
| MIM | 114207. gene. |
| neXtProt | NX_Q02641. |
| PharmGKB | PA87. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG326500. |
| HOVERGEN | HBG050765. |
| KO | K04862. |
| OMA | KTEHVPP. |
| OrthoDB | EOG4X6C83. |
Enzyme and pathway databases | |
| Reactome | REACT_111045. Developmental Biology. REACT_13685. Neuronal System. |
Gene expression databases | |
| Bgee | Q02641. |
| CleanEx | HS_CACNB1. |
| Genevestigator | Q02641. |
| GermOnline | ENSG00000067191. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR008144. Guanylate_kin. IPR008145. Guanylate_kin/L-typ_Ca_channel. IPR027417. P-loop_NTPase. IPR001452. SH3_domain. IPR005443. VDCC_L_b1su. IPR000584. VDCC_L_bsu. [Graphical view] |
| PANTHER | PTHR11824. PTHR11824. 1 hit. |
| Pfam | PF00625. Guanylate_kin. 1 hit. PF12052. VGCC_beta4Aa_N. 1 hit. [Graphical view] |
| PRINTS | PR01626. LCACHANNELB. PR01627. LCACHANNELB1. |
| SMART | SM00072. GuKc. 1 hit. SM00326. SH3. 1 hit. [Graphical view] |
| SUPFAM | SSF50044. SH3. 1 hit. SSF52540. SSF52540. 1 hit. |
| PROSITE | PS50002. SH3. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| DrugBank | DB00308. Ibutilide. DB00653. Magnesium Sulfate. DB01388. Mibefradil. DB00661. Verapamil. |
| GenomeRNAi | 782. |
| NextBio | 3164. |
| SOURCE | Search... |
Entry information
| Entry name | CACB1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q02641 Secondary accession number(s): A8K114 Q9UD79 | ||||||||
| Entry history |
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| Entry status | 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. | ||||||||
Relevant documents
| Human chromosome 17 Human chromosome 17: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| 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 |
| SIMILARITY comments Index of protein domains and families |

Clusters with
