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

    Gene ID: 255057, updated on 2-Nov-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 growth cone and secretory granule. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in brain (RPKM 2.8), adrenal (RPKM 1.1) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CBARP in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (1228287..1238502, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (1196845..1207060, complement)
    RS_2024_09 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 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. Cooperative polarization of MCAM/CD146 and ERM family proteins in melanoma. Miller SG, et al. Mol Biol Cell, 2024 Mar 1. PMID 38117590, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 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_2024_08

    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

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