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CBARP CACN subunit beta associated regulatory protein [ Homo sapiens (human) ]

Gene ID: 255057, updated on 3-Apr-2024

Summary

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Official Symbol
CBARPprovided by HGNC
Official Full Name
CACN subunit beta associated regulatory proteinprovided by HGNC
Primary source
HGNC:HGNC:28617
See related
Ensembl:ENSG00000099625 AllianceGenome:HGNC:28617
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DOS; BARP; C19orf26
Summary
Predicted to enable transmembrane transporter binding activity. Predicted to be involved in negative regulation of calcium ion-dependent exocytosis and negative regulation of voltage-gated calcium channel activity. Predicted to be located in synaptic vesicle membrane. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. Predicted to colocalize with growth cone and secretory granule. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in brain (RPKM 2.8), adrenal (RPKM 1.1) and 12 other tissues See more
Orthologs
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Genomic context

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Location:
19p13.3
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (1228287..1238502, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (1196845..1207060, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (1228286..1238004, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene strawberry notch homolog 2 Neighboring gene collagen alpha-1(VII) chain Neighboring gene SBNO2 intron CAGE-defined low expression enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9666 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13590 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:1177383-1178582 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1179969-1180484 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13591 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13592 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1184302-1184862 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1184863-1185421 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9667 Neighboring gene Sharpr-MPRA regulatory region 12578 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13593 Neighboring gene Sharpr-MPRA regulatory region 734 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9669 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9670 Neighboring gene Sharpr-MPRA regulatory region 13808 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13594 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1208870-1209555 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1210982-1211768 Neighboring gene serine/threonine kinase 11 intron 1 Alu-mediated recombination region Neighboring gene high mobility group box 2 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13595 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13596 Neighboring gene Sharpr-MPRA regulatory region 9448 Neighboring gene serine/threonine kinase 11 intron 3 Alu-mediated recombination region Neighboring gene serine/threonine kinase 11 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13597 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9671 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1239955-1240513 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13598 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13599 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9673 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9674 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13600 Neighboring gene uncharacterized LOC102723811 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9675 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1245978-1246723 Neighboring gene CBARP divergent transcript Neighboring gene ATP synthase F1 subunit delta

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. BARP suppresses voltage-gated calcium channel activity and Ca2+-evoked exocytosis. Béguin P, et al. J Cell Biol, 2014 Apr 28. PMID 24751537, Free PMC Article
  2. Substrate trapping proteomics reveals targets of the βTrCP2/FBXW11 ubiquitin ligase. Kim TY, et al. Mol Cell Biol, 2015 Jan. PMID 25332235, Free PMC Article
  3. The PHLPP1 N-Terminal Extension Is a Mitotic Cdk1 Substrate and Controls an Interactome Switch. Kawashima AT, et al. Mol Cell Biol, 2021 Feb 23. PMID 33397691, Free PMC Article
  4. The DNA sequence and biology of human chromosome 19. Grimwood J, et al. Nature, 2004 Apr 1. PMID 15057824
  5. The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2. Kovalski JR, et al. Mol Cell, 2019 Feb 21. PMID 30639242, Free PMC Article

See all (22) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC40084

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables transmembrane transporter binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables transmembrane transporter binding ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in negative regulation of calcium ion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of calcium ion-dependent exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of calcium ion-dependent exocytosis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of voltage-gated calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of voltage-gated calcium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
colocalizes_with growth cone ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
colocalizes_with secretory granule IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in secretory granule ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
voltage-dependent calcium channel beta subunit-associated regulatory protein
Names
CACN beta subunit associated regulatory protein
VGCC beta-anchoring and -regulatory protein
calcium channel, voltage-dependent, beta subunit associated regulatory protein
downstream of Stk11
protein Dos

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001393918.1 → NP_001380847.1  voltage-dependent calcium channel beta subunit-associated regulatory protein isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC004221
    Consensus CDS
    CCDS92477.1
    UniProtKB/Swiss-Prot
    K7EJP2, O43385, Q8N350
    UniProtKB/TrEMBL
    A0A140LJL2
    Related
    ENSP00000497208.1, ENST00000650044.2

  2. NM_152769.3 → NP_689982.3  voltage-dependent calcium channel beta subunit-associated regulatory protein isoform 2

    See identical proteins and their annotated locations for NP_689982.3

    Status: VALIDATED

    Source sequence(s)
    AC004221, AW163263, BC028156, BM263341, BM743507, BX094586, CK824551
    Consensus CDS
    CCDS12057.2
    UniProtKB/Swiss-Prot
    Q8N350
    Related
    ENSP00000465260.1, ENST00000590083.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    1228287..1238502 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017026555.2 → XP_016882044.1  voltage-dependent calcium channel beta subunit-associated regulatory protein isoform X1

    UniProtKB/TrEMBL
    A0A140LJL2

  2. XM_017026556.2 → XP_016882045.1  voltage-dependent calcium channel beta subunit-associated regulatory protein isoform X2

    UniProtKB/TrEMBL
    A0A140LJL2

  3. XM_017026558.1 → XP_016882047.1  voltage-dependent calcium channel beta subunit-associated regulatory protein isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    1196845..1207060 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054320445.1 → XP_054176420.1  voltage-dependent calcium channel beta subunit-associated regulatory protein isoform X1

  2. XM_054320446.1 → XP_054176421.1  voltage-dependent calcium channel beta subunit-associated regulatory protein isoform X2

  3. XM_054320447.1 → XP_054176422.1  voltage-dependent calcium channel beta subunit-associated regulatory protein isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N350.3 GenPept UniProtKB/Swiss-Prot:Q8N350

Gene LinkOut

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