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

Gene ID: 57221, updated on 3-Apr-2024

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; AllianceGenome:HGNC:21213
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
Summary
Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in actin cytoskeleton organization. Predicted to be located in transport vesicle membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
6q23.3-q24.1
Exon count:
35
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (138161939..138344663)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (139350430..139533149)
105.20220307 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 Neanderthal introgressed variant-containing enhancer experimental_90506 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:138408219-138409418 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17593 Neighboring gene p53 apoptosis effector related to PMP22 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:138482885-138483855 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90516 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90526 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:138504387-138504888 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:138504889-138505388 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90581 Neighboring gene prostate and breast cancer overexpressed 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:138608085-138608584 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:138650317-138651290 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:138651291-138652264 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:138652315-138653064 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:138653065-138653812 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:138655517-138656120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:138656121-138656722 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:138698741-138699245 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:138724054-138724574 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17595 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The survival and proliferation of osteosarcoma cells are dependent on the mitochondrial BIG3-PHB2 complex formation.
    Title: The survival and proliferation of osteosarcoma cells are dependent on the mitochondrial BIG3-PHB2 complex formation.
  2. 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.
  3. 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 regulation of ARF protein signal transduction IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus 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
    C5NM88, Q5TH69, Q76MU8, Q8N4Y4, Q96CH9, Q96P46, Q9ULH6
    UniProtKB/TrEMBL
    B5MDV5
    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: 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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    138161939..138344663
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047419108.1 → XP_047275064.1  brefeldin A-inhibited guanine nucleotide-exchange protein 3 isoform X1

RNA

  1. XR_001743524.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    139350430..139533149
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054355992.1 → XP_054211967.1  brefeldin A-inhibited guanine nucleotide-exchange protein 3 isoform X1

RNA

  1. XR_008487366.1 RNA Sequence

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

Gene LinkOut

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