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ARFGEF3 ARFGEF family member 3 [ Homo sapiens (human) ]

Gene ID: 57221, updated on 4-Jul-2021

Summary

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Official Symbol
ARFGEF3provided by HGNC
Official Full Name
ARFGEF family member 3provided by HGNC
Primary source
HGNC:HGNC:21213
See related
Ensembl:ENSG00000112379 MIM:617411
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
BIG3; A7322; C6orf92; PPP1R33; KIAA1244; dJ171N11.1
Expression
Broad expression in brain (RPKM 10.4), prostate (RPKM 8.3) and 15 other tissues See more
Orthologs
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Genomic context

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See ARFGEF3 in Genome Data Viewer
Location:
6q23.3-q24.1
Exon count:
34
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (138161690..138344663)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (138483076..138665800)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378021 Neighboring gene p53 apoptosis effector related to PMP22 Neighboring gene prostate and breast cancer overexpressed 1 Neighboring gene small integral membrane protein 28 Neighboring gene MARCKS like 1 pseudogene 2 Neighboring gene heme binding protein 2

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. Biophysical characterization of the breast cancer-related BIG3-PHB2 interaction: Effect of non-conserved loop region of BIG3 on the structure and the interaction. Chigira T, et al. Biochem Biophys Res Commun, 2019 Oct 8. PMID 31421830
  2. Brefeldin A-inhibited guanine nucleotide-exchange protein 3 (BIG3) is predicted to interact with its partner through an ARM-type α-helical structure. Chen YA, et al. BMC Res Notes, 2014 Jul 6. PMID 24997568, Free PMC Article
  3. Activation of an estrogen/estrogen receptor signaling by BIG3 through its inhibitory effect on nuclear transport of PHB2/REA in breast cancer. Kim JW, et al. Cancer Sci, 2009 Aug. PMID 19496786
  4. Cloning and characterization of a novel WD-40 repeat protein that dramatically accelerates osteoblastic differentiation. Gori F, et al. J Biol Chem, 2001 Dec 7. PMID 11551928
  5. A-kinase anchoring protein BIG3 coordinates oestrogen signalling in breast cancer cells. Yoshimaru T, et al. Nat Commun, 2017 May 30. PMID 28555617, Free PMC Article

See all (31) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. These results establish a model for the BIG3-PHB2 interaction and an entry for drug discovery for breast cancer.
    Title: Biophysical characterization of the breast cancer-related BIG3-PHB2 interaction: Effect of non-conserved loop region of BIG3 on the structure and the interaction.
  2. BIG3 (ARFGEF3) is predicted to interact with its partner PHB2 through an ARM-type alpha-helical structure.
    Title: Brefeldin A-inhibited guanine nucleotide-exchange protein 3 (BIG3) is predicted to interact with its partner through an ARM-type α-helical structure.
Submit: New GeneRIF Correction

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)

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

  • FLJ32064, KIAA1244

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in regulation of ARF protein signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
  
located_in transport vesicle membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
brefeldin A-inhibited guanine nucleotide-exchange protein 3
Names
protein phosphatase 1, regulatory subunit 33

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_020340.5 → NP_065073.3  brefeldin A-inhibited guanine nucleotide-exchange protein 3

    See identical proteins and their annotated locations for NP_065073.3

    Status: VALIDATED

    Source sequence(s)
    AB252196, BU682567
    Consensus CDS
    CCDS5189.2
    UniProtKB/Swiss-Prot
    Q5TH69
    Related
    ENSP00000251691.4, ENST00000251691.5
    Conserved Domains (4) summary
    smart00222
    Location:586 → 798
    Sec7; Sec7 domain
    pfam03426
    Location:1976 → 2055
    CBM_15; Carbohydrate binding domain (family 15)
    pfam09324
    Location:1246 → 1303
    DUF1981; Domain of unknown function (DUF1981)
    pfam16213
    Location:5 → 168
    DCB; Dimerization and cyclophilin-binding domain of Mon2

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_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    138161690..138344663
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001743524.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5TH69.3 GenPept UniProtKB/Swiss-Prot:Q5TH69

Gene LinkOut

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

Chemical Information
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