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    GC GC vitamin D binding protein [ Homo sapiens (human) ]

    Gene ID: 2638, updated on 17-Feb-2019

    Summary

    Official Symbol
    GCprovided by HGNC
    Official Full Name
    GC vitamin D binding proteinprovided by HGNC
    Primary source
    HGNC:HGNC:4187
    See related
    Ensembl:ENSG00000145321 MIM:139200
    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
    DBP; VDB; GRD3; VDBG; VDBP; GcMAF; DBP/GC; Gc-MAF; DBP-maf; HEL-S-51
    Summary
    The protein encoded by this gene belongs to the albumin gene family. It is a multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid and on the surface of many cell types. It binds to vitamin D and its plasma metabolites and transports them to target tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]
    Expression
    Restricted expression toward liver (RPKM 1264.0) See more
    Orthologs

    Genomic context

    Location:
    4q13.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (71741693..71805520, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (72607410..72671237, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986285 Neighboring gene uncharacterized LOC105377271 Neighboring gene RNA, 5S ribosomal pseudogene 163 Neighboring gene neuropeptide FF receptor 2 Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 3

    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 FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Association between liver-specific gene polymorphisms and their expression levels with nonalcoholic fatty liver disease.
    NHGRI GWA Catalog
    Common genetic determinants of vitamin D insufficiency: a genome-wide association study.
    NHGRI GWA Catalog
    Genome-wide association analysis of circulating vitamin D levels in children with asthma.
    NHGRI GWA Catalog
    Genome-wide association study of circulating vitamin D levels.
    NHGRI GWA Catalog
    Genome-wide association study of circulating vitamin D-binding protein.
    NHGRI GWA Catalog
    Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study.
    NHGRI GWA Catalog
    Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of fat-soluble vitamins, organism-specific biosystem (from REACTOME)
      Metabolism of fat-soluble vitamins, organism-specific biosystemVitamins A, D, E, and K are classified as fat-soluble. Metabolic pathways by which dietary precursors of vitamins A (Harrison 2005) and K(Shearer et al. 2012) are converted to active forms, and by wh...
    • Metabolism of vitamins and cofactors, organism-specific biosystem (from REACTOME)
      Metabolism of vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, classified according to their solubility, either fat-soluble or water-soluble, that are either not synthesized or synthesized only in limited amount...
    • Vitamin D (calciferol) metabolism, organism-specific biosystem (from REACTOME)
      Vitamin D (calciferol) metabolism, organism-specific biosystemVitamin D3 (cholecalciferol) is a steroid hormone that plays a role in regulating calcium and bone metabolism. It is obtained from the diet and produced in the skin by photolysis of 7-dehydrocholeste...
    • Vitamin D Metabolism, organism-specific biosystem (from WikiPathways)
      Vitamin D Metabolism, organism-specific biosystemPhotochemical synthesis of vitamin D3 (cholecalciferol, D3) occurs cutaneously where pro-vitamin D3 (7-dehydrocholesterol) is converted to pre-vitamin D3 (pre-D3) in response to ultraviolet B (sunlig...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    calcidiol binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    vitamin D binding TAS
    Traceable Author Statement
    more info
    PubMed 
    vitamin transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    vitamin D metabolic process TAS
    Traceable Author Statement
    more info
     
    vitamin transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    vitamin transport TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    blood microparticle HDA PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome HDA PubMed 
    extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space HDA PubMed 
    lysosomal lumen TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    vitamin D-binding protein
    Names
    epididymis secretory protein Li 51
    gc protein-derived macrophage activating factor
    gc-globulin
    group-specific component (vitamin D binding protein)
    vitamin D-binding alpha-globulin
    vitamin D-binding protein-macrophage activating factor
    NP_000574.2
    NP_001191235.1
    NP_001191236.1
    XP_006714240.1

    NCBI Reference Sequences (RefSeq)

    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_012837.3 RefSeqGene

      Range
      26159..68828
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000583.4NP_000574.2  vitamin D-binding protein isoform 1 precursor

      See identical proteins and their annotated locations for NP_000574.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is a predominant transcript. This variant and variant 2 encode the same isoform (1).
      Source sequence(s)
      AA702473, AK223458, X03178
      Consensus CDS
      CCDS3550.1
      UniProtKB/Swiss-Prot
      P02774
      Related
      ENSP00000273951.8, ENST00000273951.12
      Conserved Domains (2) summary
      smart00103
      Location:19201
      ALBUMIN; serum albumin
      pfam09164
      Location:405469
      VitD-bind_III; Vitamin D binding protein, domain III
    2. NM_001204306.1NP_001191235.1  vitamin D-binding protein isoform 1 precursor

      See identical proteins and their annotated locations for NP_001191235.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 5' UTR and encodes the same isoform 1, as compared to variant 1.
      Source sequence(s)
      AA702473, AK223458
      Consensus CDS
      CCDS3550.1
      UniProtKB/Swiss-Prot
      P02774
      Conserved Domains (2) summary
      smart00103
      Location:19201
      ALBUMIN; serum albumin
      pfam09164
      Location:405469
      VitD-bind_III; Vitamin D binding protein, domain III
    3. NM_001204307.1NP_001191236.1  vitamin D-binding protein isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate 5' sequence which contains an upstream in-frame AUG start codon, as compared to variant 1. The resulting isoform (2) has a longer N-terminus, as compared to isoform 1.
      Source sequence(s)
      AA702473, AC024722, AK223458, AK309595, AK315853
      Consensus CDS
      CCDS56332.1
      UniProtKB/Swiss-Prot
      P02774
      Related
      ENSP00000421725.1, ENST00000504199.5
      Conserved Domains (2) summary
      smart00103
      Location:38220
      ALBUMIN; serum albumin
      pfam09164
      Location:424488
      VitD-bind_III; Vitamin D binding protein, domain III

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

      Range
      71741693..71805520 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006714177.3XP_006714240.1  vitamin D-binding protein isoform X1

      Related
      ENSP00000422664.1, ENST00000509740.5
      Conserved Domains (2) summary
      smart00103
      Location:19201
      ALBUMIN; serum albumin
      pfam09164
      Location:405422
      VitD-bind_III; Vitamin D binding protein, domain III
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