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UniProtKB - Q02641 (CACB1_HUMAN)

Entry version 201 (07 Oct 2020)
Sequence version 3 (02 May 2002)
Previous versions | rss
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Protein

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

Gene

CACNB1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Regulatory subunit of L-type calcium channels (PubMed:1309651, PubMed:8107964, PubMed:15615847). Regulates the activity of L-type calcium channels that contain CACNA1A as pore-forming subunit (By similarity). Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit and increases the presence of the channel complex at the cell membrane (PubMed:15615847). Required for functional expression L-type calcium channels that contain CACNA1D as pore-forming subunit (PubMed:1309651). Regulates the activity of L-type calcium channels that contain CACNA1B as pore-forming subunit (PubMed:8107964).By similarity3 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q02641

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-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

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CACNB1
Synonyms:CACNLB1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000067191.15

Human Gene Nomenclature Database

More...HGNCi		HGNC:1401, CACNB1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		114207, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q02641

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...DisGeNETi		782

Open Targets

More...OpenTargetsi		ENSG00000067191

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA87

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q02641, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL3988638
CHEMBL3988640
CHEMBL4106160

Drug and drug target database

More...DrugBanki		DB01118, Amiodarone
DB00381, Amlodipine
DB09230, Azelnidipine
DB09231, Benidipine
DB13746, Bioallethrin
DB11148, Butamben
DB11093, Calcium citrate
DB11348, Calcium Phosphate
DB14481, Calcium phosphate dihydrate
DB09232, Cilnidipine
DB04855, Dronedarone
DB00153, Ergocalciferol
DB00898, Ethanol
DB13961, Fish oil
DB00308, Ibutilide
DB09236, Lacidipine
DB00825, Levomenthol
DB00653, Magnesium sulfate
DB09238, Manidipine
DB01388, Mibefradil
DB00393, Nimodipine
DB00252, Phenytoin
DB00243, Ranolazine
DB00421, Spironolactone
DB00273, Topiramate
DB09089, Trimebutine

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CACNB1

Domain mapping of disease mutations (DMDM)

More...DMDMi		20455481

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001440461 – 598Voltage-dependent L-type calcium channel subunit beta-1Add BLAST598

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>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

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q02641

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q02641

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q02641

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q02641

PeptideAtlas

More...PeptideAtlasi		Q02641

PRoteomics IDEntifications database

More...PRIDEi		Q02641

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		58113 [Q02641-1]
58114 [Q02641-2]
58115 [Q02641-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q02641

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q02641

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Detected in heart ventricle (at protein level) (PubMed:15615847). Isoform 1 and isoform 3 are expressed in brain, heart, spleen, central nervous system and neuroblastoma cells. Isoform 2 is expressed in skeletal muscle.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000067191, Expressed in gastrocnemius and 201 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q02641, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q02641, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000067191, Tissue enriched (skeletal)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Regulatory subunit of L-type calcium channels that consist of a pore-forming alpha subunit and auxiliary beta, gamma and delta subunits (By similarity).

Interacts with CACNA1A, CACNA1B, CACNA1C and CACNA1S (By similarity).

Component of a calcium channel complex consisting of a pore-forming alpha subunit (CACNA1S) and the ancillary subunits CACNB1 or CACNB2, CACNG1 and CACNA2D1.

Identified in a complex with CACNA1C (PubMed:15615847).

Identified in a complex with the L-type calcium channel subunits CACNA1C, CACNA2D1, CACNB1 and one of the gamma subunits (CACNG4, CACNG6, CACNG7, or CACNG8) (By similarity).

Part of a L-type calcium channel complex that contains CACNA1D, CACNA2D1 and CACNB1 (PubMed:1309651).

Part of a L-type calcium channel complex that contains CACNA1B, CACNA2D1 and CACNB1 (PubMed:8107964).

Interacts with JSRP1.

Interacts with RYR1 (By similarity).

Interacts with CBARP (By similarity).

By similarity3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		107236, 10 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-3192, Skeletal muscle VGCC complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q02641

Protein interaction database and analysis system

More...IntActi		Q02641, 10 interactors

Molecular INTeraction database

More...MINTi		Q02641

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000377840

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q02641, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q02641

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini100 – 169SH3PROSITE-ProRule annotationAdd BLAST70

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the calcium channel beta subunit family.Curated

Keywords - Domaini

SH3 domain

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3812, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00950000182837

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_021995_3_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q02641

KEGG Orthology (KO)

More...KOi		K04862

Identification of Orthologs from Complete Genome Data

More...OMAi		SLRRNMD

Database of Orthologous Groups

More...OrthoDBi		926074at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q02641

TreeFam database of animal gene trees

More...TreeFami		TF316195

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View 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

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00625, Guanylate_kin, 1 hit
PF12052, VGCC_beta4Aa_N, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR01626, LCACHANNELB
PR01627, LCACHANNELB1

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00072, GuKc, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF50044, SSF50044, 1 hit
SSF52540, SSF52540, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50002, SH3, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q6TME4Q6TME4_HUMAN
Calcium channel voltage-dependent s...
CACNB1
216Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_036349339P → L in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs1266205915Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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 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.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS11334.1 [Q02641-2]
CCDS42311.1 [Q02641-1]
CCDS45665.1 [Q02641-3]

Protein sequence database of the Protein Information Resource

More...PIRi		A44461
B44461
C44461
I38002
I52859
I65766
I65767
JH0566

NCBI Reference Sequences

More...RefSeqi		NP_000714.3, NM_000723.4 [Q02641-1]
NP_954855.1, NM_199247.2 [Q02641-2]
NP_954856.1, NM_199248.2 [Q02641-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000344140; ENSP00000345461; ENSG00000067191 [Q02641-2]
ENST00000394303; ENSP00000377840; ENSG00000067191 [Q02641-1]
ENST00000394310; ENSP00000377847; ENSG00000067191 [Q02641-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		782

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:782

UCSC genome browser

More...UCSCi		uc002hrm.2, human [Q02641-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

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 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.
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]

3D structure databases

SMRiQ02641
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi107236, 10 interactors
ComplexPortaliCPX-3192, Skeletal muscle VGCC complex
CORUMiQ02641
IntActiQ02641, 10 interactors
MINTiQ02641
STRINGi9606.ENSP00000377840

Chemistry databases

ChEMBLiCHEMBL3988638
CHEMBL3988640
CHEMBL4106160
DrugBankiDB01118, Amiodarone
DB00381, Amlodipine
DB09230, Azelnidipine
DB09231, Benidipine
DB13746, Bioallethrin
DB11148, Butamben
DB11093, Calcium citrate
DB11348, Calcium Phosphate
DB14481, Calcium phosphate dihydrate
DB09232, Cilnidipine
DB04855, Dronedarone
DB00153, Ergocalciferol
DB00898, Ethanol
DB13961, Fish oil
DB00308, Ibutilide
DB09236, Lacidipine
DB00825, Levomenthol
DB00653, Magnesium sulfate
DB09238, Manidipine
DB01388, Mibefradil
DB00393, Nimodipine
DB00252, Phenytoin
DB00243, Ranolazine
DB00421, Spironolactone
DB00273, Topiramate
DB09089, Trimebutine

PTM databases

iPTMnetiQ02641
PhosphoSitePlusiQ02641

Polymorphism and mutation databases

BioMutaiCACNB1
DMDMi20455481

Proteomic databases

jPOSTiQ02641
MassIVEiQ02641
MaxQBiQ02641
PaxDbiQ02641
PeptideAtlasiQ02641
PRIDEiQ02641
ProteomicsDBi58113 [Q02641-1]
58114 [Q02641-2]
58115 [Q02641-3]

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...ABCDi		Q02641, 1 sequenced antibody

Antibodypedia a portal for validated antibodies

More...Antibodypediai		4063, 387 antibodies

The DNASU plasmid repository

More...DNASUi		782

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]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		782
DisGeNETi782
EuPathDBiHostDB:ENSG00000067191.15

GeneCards: human genes, protein and diseases

More...GeneCardsi		CACNB1
HGNCiHGNC:1401, CACNB1
HPAiENSG00000067191, Tissue enriched (skeletal)
MIMi114207, gene
neXtProtiNX_Q02641
OpenTargetsiENSG00000067191
PharmGKBiPA87

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3812, Eukaryota
GeneTreeiENSGT00950000182837
HOGENOMiCLU_021995_3_0_1
InParanoidiQ02641
KOiK04862
OMAiSLRRNMD
OrthoDBi926074at2759
PhylomeDBiQ02641
TreeFamiTF316195

Enzyme and pathway databases

PathwayCommonsiQ02641
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

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		782, 9 hits in 867 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		CACNB1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		CACNB1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		782
PharosiQ02641, Tbio

Protein Ontology

More...PROi		PR:Q02641
RNActiQ02641, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000067191, Expressed in gastrocnemius and 201 other tissues
ExpressionAtlasiQ02641, baseline and differential
GenevisibleiQ02641, HS

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
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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCACB1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q02641
Secondary accession number(s): A8K114
, O15331, Q02639, Q02640, Q8N3X9, Q9C085, Q9UD79
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: May 2, 2002
Last modified: October 7, 2020
This is version 201 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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