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

Summary

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; Vega:OTTHUMG00000015670
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: mouse all

Genomic context

Location:: 6q23.3-q24.1

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
109	current	GRCh38.p12 (GCF_000001405.38)	6	NC_000006.12 (138161690..138344663)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (138483053..138665800)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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 Jun 15 11:32:44 2016

Bibliography

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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-14023 (e-PCR)
- UniSTS:69128

D6S1144E (e-PCR)
- UniSTS:27151

D8S2279 (e-PCR)
- UniSTS:473907

RH46752 (e-PCR)
- UniSTS:23146

RH94257 (e-PCR)
- UniSTS:85363

A002U24 (e-PCR)
- UniSTS:42624

RH18421 (e-PCR)
- UniSTS:77997

D6S1080 (e-PCR)
- UniSTS:13999

RH37433 (e-PCR)
- UniSTS:4813

G65718 (e-PCR)
- UniSTS:225503

SHGC-53488 (e-PCR)
- UniSTS:21742

SHGC-32063 (e-PCR)
- UniSTS:19954

RH1527 (e-PCR)
- UniSTS:4602

Homology

Homologs of the ARFGEF3 gene: The ARFGEF3 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, chicken, zebrafish, fruit fly, mosquito, and C.elegans.
Orthologs from Annotation Pipeline: 249 organisms have orthologs with human gene ARFGEF3
The Hierarchical Catalog of Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
ARF guanyl-nucleotide exchange factor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
negative regulation of phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
regulation of ARF protein signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
integral component of membrane	IEA Inferred from Electronic Annotation more info
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)

NM_020340.4 → 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, OTTHUMP00000017295, ENST00000251691.4, OTTHUMT00000042425

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