Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - Q00975 (CAC1B_HUMAN)

Entry version 190 (22 Apr 2020)
Sequence version 1 (01 Oct 1996)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Voltage-dependent N-type calcium channel subunit alpha-1B

Gene

CACNA1B

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

Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1B gives rise to N-type calcium currents. N-type calcium channels belong to the 'high-voltage activated' (HVA) group and are specifically blocked by omega-conotoxin-GVIA (AC P01522) (AC P01522) (By similarity). They are however insensitive to dihydropyridines (DHP). Calcium channels containing alpha-1B subunit may play a role in directed migration of immature neurons.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei314Calcium ion selectivity and permeabilityBy similarity1
Sitei663Calcium ion selectivity and permeabilityBy similarity1
Sitei1365Calcium ion selectivity and permeabilityBy similarity1
Sitei1655Calcium ion selectivity and permeabilityBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi451 – 458ATPSequence analysis8
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position(s) of the calcium-binding region(s) within the protein. One common calcium-binding motif is the EF-hand, but other calcium-binding motifs also exist.<p><a href='/help/ca_bind' target='_top'>More...</a></p>Calcium bindingi1737 – 1748PROSITE-ProRule annotationAdd BLAST12

<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
LigandATP-binding, Calcium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-112308 Presynaptic depolarization and calcium channel opening

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q00975

<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 N-type calcium channel subunit alpha-1B
Alternative 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
<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:CACNA1B
Synonyms:CACH5, CACNL1A5
<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 9

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:1389 CACNA1B

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		601012 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q00975

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 95CytoplasmicSequence analysisAdd BLAST95
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei96 – 114Helical; Name=S1 of repeat ISequence analysisAdd BLAST19
Topological domaini115 – 132ExtracellularSequence analysisAdd BLAST18
Transmembranei133 – 152Helical; Name=S2 of repeat ISequence analysisAdd BLAST20
Topological domaini153 – 163CytoplasmicSequence analysisAdd BLAST11
Transmembranei164 – 183Helical; Name=S3 of repeat ISequence analysisAdd BLAST20
Topological domaini184 – 187ExtracellularSequence analysis4
Transmembranei188 – 206Helical; Name=S4 of repeat ISequence analysisAdd BLAST19
Topological domaini207 – 225CytoplasmicSequence analysisAdd BLAST19
Transmembranei226 – 245Helical; Name=S5 of repeat ISequence analysisAdd BLAST20
Topological domaini246 – 331ExtracellularSequence analysisAdd BLAST86
Transmembranei332 – 356Helical; Name=S6 of repeat ISequence analysisAdd BLAST25
Topological domaini357 – 482CytoplasmicSequence analysisAdd BLAST126
Transmembranei483 – 501Helical; Name=S1 of repeat IISequence analysisAdd BLAST19
Topological domaini502 – 516ExtracellularSequence analysisAdd BLAST15
Transmembranei517 – 536Helical; Name=S2 of repeat IISequence analysisAdd BLAST20
Topological domaini537 – 544CytoplasmicSequence analysis8
Transmembranei545 – 562Helical; Name=S3 of repeat IISequence analysisAdd BLAST18
Topological domaini563 – 573ExtracellularSequence analysisAdd BLAST11
Transmembranei574 – 592Helical; Name=S4 of repeat IISequence analysisAdd BLAST19
Topological domaini593 – 611CytoplasmicSequence analysisAdd BLAST19
Transmembranei612 – 631Helical; Name=S5 of repeat IISequence analysisAdd BLAST20
Topological domaini632 – 684ExtracellularSequence analysisAdd BLAST53
Transmembranei685 – 709Helical; Name=S6 of repeat IISequence analysisAdd BLAST25
Topological domaini710 – 1151CytoplasmicSequence analysisAdd BLAST442
Transmembranei1152 – 1169Helical; Name=S1 of repeat IIISequence analysisAdd BLAST18
Topological domaini1170 – 1185ExtracellularSequence analysisAdd BLAST16
Transmembranei1186 – 1205Helical; Name=S2 of repeat IIISequence analysisAdd BLAST20
Topological domaini1206 – 1217CytoplasmicSequence analysisAdd BLAST12
Transmembranei1218 – 1236Helical; Name=S3 of repeat IIISequence analysisAdd BLAST19
Topological domaini1237 – 1246ExtracellularSequence analysis10
Transmembranei1247 – 1265Helical; Name=S4 of repeat IIISequence analysisAdd BLAST19
Topological domaini1266 – 1284CytoplasmicSequence analysisAdd BLAST19
Transmembranei1285 – 1304Helical; Name=S5 of repeat IIISequence analysisAdd BLAST20
Topological domaini1305 – 1391ExtracellularSequence analysisAdd BLAST87
Transmembranei1392 – 1416Helical; Name=S6 of repeat IIISequence analysisAdd BLAST25
Topological domaini1417 – 1471CytoplasmicSequence analysisAdd BLAST55
Transmembranei1472 – 1490Helical; Name=S1 of repeat IVSequence analysisAdd BLAST19
Topological domaini1491 – 1505ExtracellularSequence analysisAdd BLAST15
Transmembranei1506 – 1525Helical; Name=S2 of repeat IVSequence analysisAdd BLAST20
Topological domaini1526 – 1533CytoplasmicSequence analysis8
Transmembranei1534 – 1552Helical; Name=S3 of repeat IVSequence analysisAdd BLAST19
Topological domaini1553 – 1563ExtracellularSequence analysisAdd BLAST11
Transmembranei1564 – 1582Helical; Name=S4 of repeat IVSequence analysisAdd BLAST19
Topological domaini1583 – 1601CytoplasmicSequence analysisAdd BLAST19
Transmembranei1602 – 1621Helical; Name=S5 of repeat IVSequence analysisAdd BLAST20
Topological domaini1622 – 1683ExtracellularSequence analysisAdd BLAST62
Transmembranei1684 – 1708Helical; Name=S6 of repeat IVSequence analysisAdd BLAST25
Topological domaini1709 – 2339CytoplasmicSequence analysisAdd BLAST631

Keywords - Cellular componenti

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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Neurodevelopmental disorder with seizures and non-epileptic hyperkinetic movements (NEDNEH)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive, complex and progressive neurologic disorder characterized by severe neurodevelopmental delay and developmental regression, epileptic encephalopathy, postnatal microcephaly, hypotonia, and non-epileptic hyperkinetic movement disorder, including myoclonus dystonia, choreoathetosis, or generalized dyskinesia. Disease onset in infancy or first years of life.
Related information in OMIM
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_083051383 – 2339Missing in NEDNEH. 1 PublicationAdd BLAST1957

Keywords - Diseasei

Disease mutation, Epilepsy, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		774

MalaCards human disease database

More...MalaCardsi		CACNA1B
MIMi618497 phenotype

Open Targets

More...OpenTargetsi		ENSG00000148408

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		442835 Undetermined early-onset epileptic encephalopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA26008

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q00975 Tclin

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL4478

Drug and drug target database

More...DrugBanki		DB08838 Agmatine
DB00381 Amlodipine
DB09231 Benidipine
DB13746 Bioallethrin
DB11148 Butamben
DB09232 Cilnidipine
DB05950 Contulakin-G
DB00153 Ergocalciferol
DB00996 Gabapentin
DB01202 Levetiracetam
DB05885 Seletracetam
DB00421 Spironolactone
DB00661 Verapamil

DrugCentral

More...DrugCentrali		Q00975

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		533

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CACNA1B

Domain mapping of disease mutations (DMDM)

More...DMDMi		1705854

<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_00000539211 – 2339Voltage-dependent N-type calcium channel subunit alpha-1BAdd BLAST2339

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 residuei22Omega-N-methylarginineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi256N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei411PhosphoserineBy similarity1
Modified residuei745PhosphoserineBy similarity1
Modified residuei748PhosphoserineBy similarity1
Modified residuei783PhosphoserineBy similarity1
Modified residuei1069PhosphoserineBy similarity1
Glycosylationi1563N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1675N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei1719Phosphoserine; by PKASequence analysis1
Modified residuei2066PhosphoserineBy similarity1
Modified residuei2224PhosphoserineBy similarity1
Modified residuei2233PhosphoserineBy similarity1
Modified residuei2256PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated in vitro by CaM-kinase II, PKA, PKC and CGPK.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Methylation, Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q00975

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q00975

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

More...PaxDbi		Q00975

PeptideAtlas

More...PeptideAtlasi		Q00975

PRoteomics IDEntifications database

More...PRIDEi		Q00975

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		57886 [Q00975-1]
57887 [Q00975-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q00975

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

More...PhosphoSitePlusi		Q00975

<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

Isoform Alpha-1b-1 and isoform Alpha-1b-2 are expressed in the central nervous system, but not in skeletal muscle or aorta. Expressed in the cerebral white matter, cortex, hippocampus, basal ganglia, and cerebellum (PubMed:30982612).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000148408 Expressed in middle temporal gyrus and 89 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q00975 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q00975 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000148408 Group enriched (adrenal gland, brain, fallopian tube, pituitary gland, testis)

<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

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 deacrease in the number of presynaptic functional CACNA1B channels at the cell surface.

Interacts with the omega-conotoxin-GVIA (AC P01522) (By similarity).

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">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

Show more details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		107228, 8 interactors

Protein interaction database and analysis system

More...IntActi		Q00975, 8 interactors

Molecular INTeraction database

More...MINTi		Q00975

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000360423

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q00975

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q00975 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

Secondary structure

12339
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		Q00975

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati82 – 359IAdd BLAST278
Repeati468 – 712IIAdd BLAST245
Repeati1137 – 1419IIIAdd BLAST283
Repeati1456 – 1711IVAdd BLAST256
<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>Domaini1724 – 1759EF-handPROSITE-ProRule annotationAdd BLAST36

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni379 – 396Binding to the beta subunitBy similarityAdd BLAST18

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi2050 – 2054Poly-His5
Compositional biasi2118 – 2122Poly-Ser5

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position.

<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 alpha-1 subunit (TC 1.A.1.11) family. CACNA1B subfamily. [View classification]Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2301 Eukaryota
ENOG410XNP6 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000155275

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q00975

KEGG Orthology (KO)

More...KOi		K04849

Database of Orthologous Groups

More...OrthoDBi		172471at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q00975

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.20.120.350, 4 hits

Integrated resource of protein families, domains and functional sites

More...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

The PANTHER Classification System

More...PANTHERi		PTHR45628:SF6 PTHR45628:SF6, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF08763 Ca_chan_IQ, 1 hit
PF16905 GPHH, 1 hit
PF00520 Ion_trans, 4 hits

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00167 CACHANNEL
PR01631 NVDCCALPHA1

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01062 Ca_chan_IQ, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50222 EF_HAND_2, 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 (2+)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 2 <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 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform Alpha-1B-1 (identifier: Q00975-1) [UniParc]FASTAAdd to basket

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
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
Length:2,339
Mass (Da):262,496
Last modified:October 1, 1996 - v1
<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:i17A45C6D1E76B39D
GO
Isoform Alpha-1B-2 (identifier: Q00975-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2164-2339: GSGSVNGSPL...YHHPDQDHWC → AGSAVGFPNT...APPGLPTCPP

Show »
Length:2,237
Mass (Da):251,716
Checksum:i28804E510F1E7747
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 are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F6RH32F6RH32_HUMAN
Voltage-dependent N-type calcium ch...
CACNA1B
2,340Annotation 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>
B1AQK6B1AQK6_HUMAN
Voltage-dependent N-type calcium ch...
CACNA1B
2,337Annotation 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>
B1AQK7B1AQK7_HUMAN
Voltage-dependent N-type calcium ch...
CACNA1B
2,338Annotation 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>
E9PDR3E9PDR3_HUMAN
Voltage-dependent N-type calcium ch...
CACNA1B
2,237Annotation 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>
H0Y7I8H0Y7I8_HUMAN
Voltage-dependent N-type calcium ch...
CACNA1B
164Annotation score:

Annotation score:1 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 Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Isoform Alpha-1B-2 (identifier: Q00975-2)
<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 conflicti2215L → R in AAA51898 (PubMed:1321501).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_048741167N → K. Corresponds to variant dbSNP:rs4422842Ensembl.1
Natural variantiVAR_083051383 – 2339Missing in NEDNEH. 1 PublicationAdd BLAST1957
Natural variantiVAR_061100862A → S. Corresponds to variant dbSNP:rs7873074Ensembl.1
Natural variantiVAR_061101996T → A. Corresponds to variant dbSNP:rs11137342Ensembl.1
Natural variantiVAR_0734321389R → 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_0487421436E → K. Corresponds to variant dbSNP:rs1322525317Ensembl.1
Natural variantiVAR_0487431500E → K. Corresponds to variant dbSNP:rs12377346Ensembl.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_0008822164 – 2339GSGSV…QDHWC → AGSAVGFPNTTPCCRETPSA SPWPLALELALTLTWGSVWT VRPLSTPCLRTLSLSRRLWP PTRAAPPGLPTCPP in isoform Alpha-1B-2. 1 PublicationAdd BLAST176

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
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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS59522.1 [Q00975-1]
CCDS59523.1 [Q00975-2]

Protein sequence database of the Protein Information Resource

More...PIRi		A42566
T45115

NCBI Reference Sequences

More...RefSeqi		NP_000709.1, NM_000718.3 [Q00975-1]
NP_001230741.1, NM_001243812.1 [Q00975-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000277551; ENSP00000277551; ENSG00000148408 [Q00975-2]
ENST00000371372; ENSP00000360423; ENSG00000148408 [Q00975-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		774

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:774

UCSC genome browser

More...UCSCi		uc064xny.1 human [Q00975-1]

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
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
CCDSiCCDS59522.1 [Q00975-1]
CCDS59523.1 [Q00975-2]
PIRiA42566
T45115
RefSeqiNP_000709.1, NM_000718.3 [Q00975-1]
NP_001230741.1, NM_001243812.1 [Q00975-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2LCMNMR-A1242-1269[»]
SMRiQ00975
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi107228, 8 interactors
IntActiQ00975, 8 interactors
MINTiQ00975
STRINGi9606.ENSP00000360423

Chemistry databases

BindingDBiQ00975
ChEMBLiCHEMBL4478
DrugBankiDB08838 Agmatine
DB00381 Amlodipine
DB09231 Benidipine
DB13746 Bioallethrin
DB11148 Butamben
DB09232 Cilnidipine
DB05950 Contulakin-G
DB00153 Ergocalciferol
DB00996 Gabapentin
DB01202 Levetiracetam
DB05885 Seletracetam
DB00421 Spironolactone
DB00661 Verapamil
DrugCentraliQ00975
GuidetoPHARMACOLOGYi533

PTM databases

iPTMnetiQ00975
PhosphoSitePlusiQ00975

Polymorphism and mutation databases

BioMutaiCACNA1B
DMDMi1705854

Proteomic databases

jPOSTiQ00975
MassIVEiQ00975
PaxDbiQ00975
PeptideAtlasiQ00975
PRIDEiQ00975
ProteomicsDBi57886 [Q00975-1]
57887 [Q00975-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		32538 118 antibodies

Genome annotation databases

EnsembliENST00000277551; ENSP00000277551; ENSG00000148408 [Q00975-2]
ENST00000371372; ENSP00000360423; ENSG00000148408 [Q00975-1]
GeneIDi774
KEGGihsa:774
UCSCiuc064xny.1 human [Q00975-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		774
DisGeNETi774

GeneCards: human genes, protein and diseases

More...GeneCardsi		CACNA1B
HGNCiHGNC:1389 CACNA1B
HPAiENSG00000148408 Group enriched (adrenal gland, brain, fallopian tube, pituitary gland, testis)
MalaCardsiCACNA1B
MIMi601012 gene
618497 phenotype
neXtProtiNX_Q00975
OpenTargetsiENSG00000148408
Orphaneti442835 Undetermined early-onset epileptic encephalopathy
PharmGKBiPA26008

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2301 Eukaryota
ENOG410XNP6 LUCA
GeneTreeiENSGT00940000155275
InParanoidiQ00975
KOiK04849
OrthoDBi172471at2759
PhylomeDBiQ00975

Enzyme and pathway databases

ReactomeiR-HSA-112308 Presynaptic depolarization and calcium channel opening
SIGNORiQ00975

Miscellaneous databases

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

More...ChiTaRSi		CACNA1B human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		N-type_calcium_channel

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

More...GenomeRNAii		774
PharosiQ00975 Tclin

Protein Ontology

More...PROi		PR:Q00975
RNActiQ00975 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000148408 Expressed in middle temporal gyrus and 89 other tissues
ExpressionAtlasiQ00975 baseline and differential
GenevisibleiQ00975 HS

Family and domain databases

Gene3Di1.20.120.350, 4 hits
InterProiView 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
PANTHERiPTHR45628:SF6 PTHR45628:SF6, 1 hit
PfamiView protein in Pfam
PF08763 Ca_chan_IQ, 1 hit
PF16905 GPHH, 1 hit
PF00520 Ion_trans, 4 hits
PRINTSiPR00167 CACHANNEL
PR01631 NVDCCALPHA1
SMARTiView protein in SMART
SM01062 Ca_chan_IQ, 1 hit
PROSITEiView protein in PROSITE
PS50222 EF_HAND_2, 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 nameiCAC1B_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: Q00975
Secondary accession number(s): B1AQK5
<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: October 1, 1996
Last sequence update: October 1, 1996
Last modified: April 22, 2020
This is version 190 of the entry and version 1 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

3D-structure, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again