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CABP1 calcium binding protein 1 [ Homo sapiens (human) ]

Gene ID: 9478, updated on 7-Aug-2021

Summary

Official Symbol
CABP1provided by HGNC
Official Full Name
calcium binding protein 1provided by HGNC
Primary source
HGNC:HGNC:1384
See related
Ensembl:ENSG00000157782 MIM:605563
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CALBRAIN; HCALB_BR
Summary
Calcium binding proteins are an important component of calcium mediated cellular signal transduction. This gene encodes a protein that belongs to a subfamily of calcium binding proteins which share similarity to calmodulin. The protein encoded by this gene regulates the gating of voltage-gated calcium ion channels. This protein inhibits calcium-dependent inactivation and supports calcium-dependent facilitation of ion channels containing voltage-dependent L-type calcium channel subunit alpha-1C. This protein also regulates calcium-dependent activity of inositol 1,4,5-triphosphate receptors, P/Q-type voltage-gated calcium channels, and transient receptor potential channel TRPC5. This gene is predominantly expressed in retina and brain. Alternative splicing results in multiple transcript variants encoding disinct isoforms. [provided by RefSeq, Jul 2012]
Expression
Biased expression in brain (RPKM 5.5), fat (RPKM 2.2) and 5 other tissues See more
Orthologs
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Genomic context

See CABP1 in Genome Data Viewer
Location:
12q24.31
Exon count:
9
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (120640552..120680869)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (121078422..121105127)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L11 pseudogene 5 Neighboring gene CABP1 divergent transcript Neighboring gene uncharacterized LOC105370029 Neighboring gene malectin Neighboring gene unc-119 lipid binding chaperone B Neighboring gene microRNA 4700

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
enables calcium-dependent protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables enzyme inhibitor activity TAS
Traceable Author Statement
more info
PubMed 
enables nuclear localization sequence binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in negative regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of protein import into nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in response to stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in visual perception ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in Golgi membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell cortex IEA
Inferred from Electronic Annotation
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular space HDA PubMed 
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in postsynaptic density IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
calcium-binding protein 1
Names
calcium binding protein 5
caldendrin

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.

Genomic

  1. NG_029321.1 RefSeqGene

    Range
    5001..31706
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001033677.2NP_001028849.1  calcium-binding protein 1 isoform 3

    See identical proteins and their annotated locations for NP_001028849.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) is the longest transcript and encodes the longest isoform (3).
    Source sequence(s)
    AL533429, BC030201
    Consensus CDS
    CCDS31913.1
    UniProtKB/Swiss-Prot
    Q9NZU7
    Related
    ENSP00000317310.3, ENST00000316803.7
    Conserved Domains (2) summary
    PTZ00184
    Location:221368
    PTZ00184; calmodulin; Provisional
    cd00051
    Location:306369
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
  2. NM_004276.5NP_004267.2  calcium-binding protein 1 isoform 2

    See identical proteins and their annotated locations for NP_004267.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 5' exon, as compared to variant 3. The encoded isoform 2 has a distinct and shorter N-terminus, as compared to isoform 3.
    Source sequence(s)
    AC069234, AF169148, BC030201, BM716422
    Consensus CDS
    CCDS9204.1
    UniProtKB/Swiss-Prot
    Q9NZU7
    Related
    ENSP00000288615.2, ENST00000351200.6
    Conserved Domains (1) summary
    PTZ00184
    Location:18165
    PTZ00184; calmodulin; Provisional
  3. NM_031205.4NP_112482.1  calcium-binding protein 1 isoform 1

    See identical proteins and their annotated locations for NP_112482.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) has an alternate 5' sequence, as compared to variant 3. The encoded isoform 1 has a distinct and shorter N-terminus, as compared to isoform 3.
    Source sequence(s)
    AC069234, AF169149, BC030201, BM716422
    Consensus CDS
    CCDS9205.1
    UniProtKB/Swiss-Prot
    Q9NZU7
    Related
    ENSP00000288616.3, ENST00000288616.7
    Conserved Domains (2) summary
    PTZ00184
    Location:78225
    PTZ00184; calmodulin; Provisional
    cd00051
    Location:163226
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    120640552..120680869
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017020235.1XP_016875724.1  calcium-binding protein 1 isoform X1

  2. XM_017020238.2XP_016875727.1  calcium-binding protein 1 isoform X4

  3. XM_017020239.2XP_016875728.1  calcium-binding protein 1 isoform X5

  4. XM_024449280.1XP_024305048.1  calcium-binding protein 1 isoform X2

    Conserved Domains (1) summary
    cl25352
    Location:157298
    EFh_PEF; The penta-EF hand (PEF) family
  5. XM_024449281.1XP_024305049.1  calcium-binding protein 1 isoform X3

    Related
    ENSP00000398959.1, ENST00000453000.1
    Conserved Domains (1) summary
    cl25352
    Location:157304
    EFh_PEF; The penta-EF hand (PEF) family
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