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IGFBP3 insulin like growth factor binding protein 3 [ Homo sapiens (human) ]

Gene ID: 3486, updated on 7-Apr-2024

Summary

Official Symbol
IGFBP3provided by HGNC
Official Full Name
insulin like growth factor binding protein 3provided by HGNC
Primary source
HGNC:HGNC:5472
See related
Ensembl:ENSG00000146674 MIM:146732; AllianceGenome:HGNC:5472
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
IBP3; BP-53; IBP-3; IGFBP-3
Summary
This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein forms a ternary complex with insulin-like growth factor acid-labile subunit (IGFALS) and either insulin-like growth factor (IGF) I or II. In this form, it circulates in the plasma, prolonging the half-life of IGFs and altering their interaction with cell surface receptors. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Expression
Biased expression in placenta (RPKM 686.3), endometrium (RPKM 259.6) and 7 other tissues See more
Orthologs
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Genomic context

Location:
7p12.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (45912245..45921272, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (46073961..46082986, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (45951844..45960871, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 201 Neighboring gene NANOG hESC enhancer GRCh37_chr7:45918149-45918667 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:45925716-45925933 Neighboring gene insulin like growth factor binding protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:45960674-45961254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:45961255-45961835 Neighboring gene uncharacterized LOC102723446 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:45992471-45992971 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:46017226-46018425 Neighboring gene RNA, U7 small nuclear 76 pseudogene Neighboring gene uncharacterized LOC105375264 Neighboring gene ferritin light chain pseudogene 15

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?

Phenotypes

EBI GWAS Catalog

Description
A genome-wide association study identifies novel loci associated with circulating IGF-I and IGFBP-3.
EBI GWAS Catalog
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
EBI GWAS Catalog
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.
EBI GWAS Catalog
Genome-wide association analyses identify variants in developmental genes associated with hypospadias.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables fibronectin binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables insulin-like growth factor I binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables insulin-like growth factor I binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables insulin-like growth factor II binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables insulin-like growth factor binding NAS
Non-traceable Author Statement
more info
PubMed 
enables metal ion binding NAS
Non-traceable Author Statement
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein tyrosine phosphatase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in MAPK cascade IEA
Inferred from Electronic Annotation
more info
 
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within negative regulation of cell population proliferation IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within negative regulation of protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
involved_in negative regulation of smooth muscle cell migration IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of smooth muscle cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in osteoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of MAPK cascade IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of insulin-like growth factor receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of myoblast differentiation IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of cell growth IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of glucose metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of insulin-like growth factor receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in type B pancreatic cell proliferation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
located_in extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
part_of insulin-like growth factor binding protein complex IC
Inferred by Curator
more info
PubMed 
part_of insulin-like growth factor ternary complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
insulin-like growth factor-binding protein 3
Names
IGF-binding protein 3
acid stable subunit of the 140 K IGF complex
binding protein 29
binding protein 53
growth hormone-dependent binding protein

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_011508.1 RefSeqGene

    Range
    5001..14028
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_68

mRNA and Protein(s)

  1. NM_000598.5NP_000589.2  insulin-like growth factor-binding protein 3 isoform b precursor

    See identical proteins and their annotated locations for NP_000589.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform b).
    Source sequence(s)
    AI142967, AK056274, AU102436, BC064987
    Consensus CDS
    CCDS5505.1
    UniProtKB/Swiss-Prot
    A4D2F5, D3DVM0, P17936, Q2V509, Q6P1M6, Q9UCL4
    UniProtKB/TrEMBL
    B4DN53
    Related
    ENSP00000477772.2, ENST00000613132.5
    Conserved Domains (2) summary
    smart00121
    Location:38115
    IB; Insulin growth factor-binding protein homologues
    pfam00086
    Location:213285
    Thyroglobulin_1; Thyroglobulin type-1 repeat
  2. NM_001013398.2NP_001013416.1  insulin-like growth factor-binding protein 3 isoform a precursor

    See identical proteins and their annotated locations for NP_001013416.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC091524, AI142967, AL540642, BC064987, X64875
    Consensus CDS
    CCDS34632.1
    UniProtKB/TrEMBL
    B4DN53
    Related
    ENSP00000370473.4, ENST00000381083.9
    Conserved Domains (2) summary
    smart00121
    Location:38115
    IB; Insulin growth factor-binding protein homologues
    pfam00086
    Location:219291
    Thyroglobulin_1; Thyroglobulin type-1 repeat

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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    45912245..45921272 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047420325.1XP_047276281.1  insulin-like growth factor-binding protein 3 isoform X1

    UniProtKB/Swiss-Prot
    A4D2F5, D3DVM0, P17936, Q2V509, Q6P1M6, Q9UCL4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    46073961..46082986 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054358119.1XP_054214094.1  insulin-like growth factor-binding protein 3 isoform X1