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

    Gene ID: 9478, updated on 27-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:1384
    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
    mouse all
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    Genomic context

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    See CABP1 in Genome Data Viewer
    Location:
    12q24.31
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (120640626..120680866)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (120629781..120669988)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (121078429..121105127)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:121034858-121035358 Neighboring gene ribosomal protein L11 pseudogene 5 Neighboring gene CABP1 divergent transcript Neighboring gene NANOG hESC enhancer GRCh37_chr12:121076316-121076817 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4957 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4958 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4959 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:121096155-121096656 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:121096657-121097156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:121104512-121105033 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:121105034-121105554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7146 Neighboring gene uncharacterized LOC105370029 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7147 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4961 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4962 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7149 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:121124755-121125256 Neighboring gene malectin Neighboring gene uncharacterized LOC124903035 Neighboring gene uncharacterized LOC124903036 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:121148178-121149020 Neighboring gene unc-119 lipid binding chaperone B

    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. Structural analysis of Mg2+ and Ca2+ binding to CaBP1, a neuron-specific regulator of calcium channels. Wingard JN, et al. J Biol Chem, 2005 Nov 11. PMID 16147998, Free PMC Article
    2. Calbrain, a novel two EF-hand calcium-binding protein that suppresses Ca2+/calmodulin-dependent protein kinase II activity in the brain. Yamaguchi K, et al. J Biol Chem, 1999 Feb 5. PMID 9920909
    3. Nuclear magnetic resonance structure of calcium-binding protein 1 in a Ca(2+) -bound closed state: implications for target recognition. Park S, et al. Protein Sci, 2011 Aug. PMID 21608059, Free PMC Article
    4. CaBP1 regulates voltage-dependent inactivation and activation of Ca(V)1.2 (L-type) calcium channels. Oz S, et al. J Biol Chem, 2011 Apr 22. PMID 21383011, Free PMC Article
    5. Structural insights into Ca2+-dependent regulation of inositol 1,4,5-trisphosphate receptors by CaBP1. Li C, et al. J Biol Chem, 2009 Jan 23. PMID 19008222, Free PMC Article

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. the faster migrating Tg adduct C primarily engages the CaBP1/P5 oxidoreductase, whereas the slower migrating Tg adduct A primarily engages ERp72.
      Title: Transient covalent interactions of newly synthesized thyroglobulin with oxidoreductases of the endoplasmic reticulum.
    2. Present the NMR structure of full-length CaBP1 with Ca(2+) bound at the first, third, and fourth EF-hands.
      Title: Nuclear magnetic resonance structure of calcium-binding protein 1 in a Ca(2+) -bound closed state: implications for target recognition.
    3. Different kinetics of Ca-dependent binding step between caldendrin and calmodulin with AKAP79 suggest their different roles in synaptic function.
      Title: Kinetic and mechanistic differences in the interactions between caldendrin and calmodulin with AKAP79 suggest different roles in synaptic function.
    4. We demonstrate that calmodulin and caldendrin compete for a partially overlapping binding site on AKAP79 and that their binding is differentially dependent on calcium
      Title: AKAP79/150 interacts with the neuronal calcium-binding protein caldendrin.
    5. CaBP1 regulates voltage-dependent inactivation and activation of Ca(V)1.2 (L-type) calcium channels
      Title: CaBP1 regulates voltage-dependent inactivation and activation of Ca(V)1.2 (L-type) calcium channels.
    6. Structural basis for the differential effects of CaBP1 and calmodulin on Ca(V)1.2 calcium-dependent inactivation.
      Title: Structural basis for the differential effects of CaBP1 and calmodulin on Ca(V)1.2 calcium-dependent inactivation.
    7. CaBP1 may regulate Ca2+-dependent activity of inositol 1,4,5-trisphosphate receptors by promoting structural contacts between the suppressor and core domains
      Title: Structural insights into Ca2+-dependent regulation of inositol 1,4,5-trisphosphate receptors by CaBP1.
    8. the importance of CaBP1s in modulating the stimulus-secretion coupling in excitable cells.
      Title: Ca2+ binding protein-1 inhibits Ca2+ currents and exocytosis in bovine chromaffin cells.
    9. We describe a new role for CaBP1 in regulation of Ca2+ influx through Ca(v)1.2 (L-type) Ca2+ channels. CaBP1 interacts directly with the alpha1 subunit of Ca(v)1.2 at sites that also bind Calmodulin
      Title: Ca2+-binding protein-1 facilitates and forms a postsynaptic complex with Cav1.2 (L-type) Ca2+ channels.
    10. CaBP1 is able to specifically regulate InsP3 receptor-mediated alterations in [Ca2+]i during agonist stimulation.
      Title: Calcium-binding protein 1 is an inhibitor of agonist-evoked, inositol 1,4,5-trisphosphate-mediated calcium signaling.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium channel regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 protein import into nucleus ISS
    Inferred from Sequence or Structural Similarity
    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
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    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

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

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_029321.2 RefSeqGene

      Range
      5002..31700
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001033677.2 → NP_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
      O95663, Q8N6H5, Q9NZU7, Q9NZU8
      Related
      ENSP00000317310.3, ENST00000316803.8
      Conserved Domains (2) summary
      PTZ00184
      Location:221 → 368
      PTZ00184; calmodulin; Provisional
      cd00051
      Location:306 → 369
      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_004276.5 → NP_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:18 → 165
      PTZ00184; calmodulin; Provisional

    3. NM_031205.4 → NP_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:78 → 225
      PTZ00184; calmodulin; Provisional
      cd00051
      Location:163 → 226
      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: 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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      120640626..120680866
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017020235.2 → XP_016875724.1  calcium-binding protein 1 isoform X1

    2. XM_017020238.3 → XP_016875727.1  calcium-binding protein 1 isoform X3

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

    4. XM_024449281.2 → XP_024305049.1  calcium-binding protein 1 isoform X4

      UniProtKB/TrEMBL
      C9J8G2
      Related
      ENSP00000398959.1, ENST00000453000.1
      Conserved Domains (1) summary
      cl25352
      Location:157 → 304
      EFh_PEF; The penta-EF hand (PEF) family

    5. XM_024449280.2 → XP_024305048.1  calcium-binding protein 1 isoform X2

      Conserved Domains (1) summary
      cl25352
      Location:157 → 298
      EFh_PEF; The penta-EF hand (PEF) family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      120629781..120669988
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373870.1 → XP_054229845.1  calcium-binding protein 1 isoform X1

    2. XM_054373872.1 → XP_054229847.1  calcium-binding protein 1 isoform X3

    3. XM_054373874.1 → XP_054229849.1  calcium-binding protein 1 isoform X5

    4. XM_054373873.1 → XP_054229848.1  calcium-binding protein 1 isoform X4

      UniProtKB/TrEMBL
      C9J8G2

    5. XM_054373871.1 → XP_054229846.1  calcium-binding protein 1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NZU7.5 GenPept UniProtKB/Swiss-Prot:Q9NZU7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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