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ARHGEF3 Rho guanine nucleotide exchange factor 3 [ Homo sapiens (human) ]

Gene ID: 50650, updated on 29-Mar-2020

Summary

Official Symbol
ARHGEF3provided by HGNC
Official Full Name
Rho guanine nucleotide exchange factor 3provided by HGNC
Primary source
HGNC:HGNC:683
See related
Ensembl:ENSG00000163947 MIM:612115
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
GEF3; STA3; XPLN
Summary
Rho-like GTPases are involved in a variety of cellular processes, and they are activated by binding GTP and inactivated by conversion of GTP to GDP by their intrinsic GTPase activity. Guanine nucleotide exchange factors (GEFs) accelerate the GTPase activity of Rho GTPases by catalyzing their release of bound GDP. This gene encodes a guanine nucleotide exchange factor, which specifically activates two members of the Rho GTPase family: RHOA and RHOB, both of which have a role in bone cell biology. It has been identified that genetic variation in this gene plays a role in the determination of bone mineral density (BMD), indicating the implication of this gene in postmenopausal osteoporosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in endometrium (RPKM 17.9), adrenal (RPKM 16.7) and 24 other tissues See more
Orthologs

Genomic context

See ARHGEF3 in Genome Data Viewer
Location:
3p14.3
Exon count:
21
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (56727419..57079308, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (56761446..57113336, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ELKS/RAB6-interacting/CAST family member 2 Neighboring gene uncharacterized LOC105377099 Neighboring gene coiled-coil domain containing 66 Neighboring gene transcription activation suppressor Neighboring gene ARHGEF3 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 6639 Neighboring gene uncharacterized LOC105377101 Neighboring gene spermatogenesis associated 12 Neighboring gene interleukin 17 receptor D Neighboring gene ribosomal protein L19 pseudogene 2

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

NHGRI GWAS Catalog

Description
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
NHGRI GWA Catalog
A genome-wide association study identifies three loci associated with mean platelet volume.
NHGRI GWA Catalog
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
NHGRI GWA Catalog
Genome-wide association study of rheumatoid arthritis in Koreans: population-specific loci as well as overlap with European susceptibility loci.
NHGRI GWA Catalog
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
NHGRI GWA Catalog
New gene functions in megakaryopoiesis and platelet formation.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ98126, MGC118905, DKFZp434F2429

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rho guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
intracellular IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
rho guanine nucleotide exchange factor 3
Names
59.8 kDA protein
Rho guanine nucleotide exchange factor (GEF) 3
RhoGEF protein
exchange factor found in platelets and leukemic and neuronal tissues, XPLN

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.

mRNA and Protein(s)

  1. NM_001128615.2NP_001122087.1  rho guanine nucleotide exchange factor 3 isoform 1

    See identical proteins and their annotated locations for NP_001122087.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AF433662, AL136832, DC334772
    Consensus CDS
    CCDS46854.1
    UniProtKB/Swiss-Prot
    Q9NR81
    Related
    ENSP00000341071.4, ENST00000338458.8
    Conserved Domains (2) summary
    cd10572
    Location:348480
    PH_RhoGEF3_XPLN; Rho guanine nucleotide exchange factor 3 Pleckstrin homology (PH) domain
    pfam00621
    Location:158334
    RhoGEF; RhoGEF domain
  2. NM_001128616.2NP_001122088.1  rho guanine nucleotide exchange factor 3 isoform 2

    See identical proteins and their annotated locations for NP_001122088.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks several 5' exons but has an alternate 5' exon, as compared to variant 1. The resulting isoform (2) has a distinct and shorter N-terminus, as compared to isoform 1. Isoforms 2 and 4 are the same length but have different N-termini.
    Source sequence(s)
    AB209661, AL136832, DC334437
    Consensus CDS
    CCDS46855.1
    UniProtKB/Swiss-Prot
    Q9NR81
    Related
    ENSP00000410922.2, ENST00000413728.6
    Conserved Domains (2) summary
    smart00325
    Location:132308
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd10572
    Location:322454
    PH_RhoGEF3_XPLN; Rho guanine nucleotide exchange factor 3 Pleckstrin homology (PH) domain
  3. NM_001289698.2NP_001276627.1  rho guanine nucleotide exchange factor 3 isoform 4

    See identical proteins and their annotated locations for NP_001276627.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks several 5' exons but has an alternate 5' exon, as compared to variant 1. The resulting isoform (4) has a distinct and shorter N-terminus, as compared to isoform 1. Isoforms 2 and 4 are the same length but have different N-termini.
    Source sequence(s)
    AF433662, AK300045, AL136832
    Consensus CDS
    CCDS74948.1
    UniProtKB/Swiss-Prot
    Q9NR81
    UniProtKB/TrEMBL
    B7Z6B2, E9PG37
    Related
    ENSP00000420420.1, ENST00000496106.5
    Conserved Domains (2) summary
    smart00325
    Location:132308
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd10572
    Location:322454
    PH_RhoGEF3_XPLN; Rho guanine nucleotide exchange factor 3 Pleckstrin homology (PH) domain
  4. NM_001377407.1NP_001364336.1  rho guanine nucleotide exchange factor 3 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC097358, AC099327, AC099559, AC099781
  5. NM_001377408.1NP_001364337.1  rho guanine nucleotide exchange factor 3 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC097358, AC099327, AC099559, AC099781
  6. NM_001377409.1NP_001364338.1  rho guanine nucleotide exchange factor 3 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC097358, AC099327, AC099559, AC099781
  7. NM_001377410.1NP_001364339.1  rho guanine nucleotide exchange factor 3 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC097358, AC099327, AC099559, AC099781
  8. NM_001377411.1NP_001364340.1  rho guanine nucleotide exchange factor 3 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC097358, AC099327, AC099559, AC099781
  9. NM_001377412.1NP_001364341.1  rho guanine nucleotide exchange factor 3 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC097358, AC099327, AC099559, AC099781
  10. NM_001377413.1NP_001364342.1  rho guanine nucleotide exchange factor 3 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC099781
  11. NM_001377414.1NP_001364343.1  rho guanine nucleotide exchange factor 3 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC099559, AC099781
  12. NM_001377415.1NP_001364344.1  rho guanine nucleotide exchange factor 3 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC099559, AC099781
  13. NM_019555.3NP_062455.1  rho guanine nucleotide exchange factor 3 isoform 3

    See identical proteins and their annotated locations for NP_062455.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks several 5' exons but has an alternate 5' exon, as compared to variant 1. The resulting isoform (3) has a distinct and shorter N-terminus, as compared to isoform 1.
    Source sequence(s)
    AL136832, DA401228
    Consensus CDS
    CCDS2878.1
    UniProtKB/Swiss-Prot
    Q9NR81
    Related
    ENSP00000296315.3, ENST00000296315.7
    Conserved Domains (2) summary
    smart00325
    Location:126302
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd10572
    Location:316448
    PH_RhoGEF3_XPLN; Rho guanine nucleotide exchange factor 3 Pleckstrin homology (PH) domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    56727419..57079308 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017006503.1XP_016861992.1  rho guanine nucleotide exchange factor 3 isoform X5

  2. XM_005265186.5XP_005265243.1  rho guanine nucleotide exchange factor 3 isoform X1

    See identical proteins and their annotated locations for XP_005265243.1

    UniProtKB/Swiss-Prot
    Q9NR81
    Conserved Domains (2) summary
    cd10572
    Location:348480
    PH_RhoGEF3_XPLN; Rho guanine nucleotide exchange factor 3 Pleckstrin homology (PH) domain
    pfam00621
    Location:158334
    RhoGEF; RhoGEF domain
  3. XM_017006504.1XP_016861993.1  rho guanine nucleotide exchange factor 3 isoform X6

  4. XM_011533764.1XP_011532066.1  rho guanine nucleotide exchange factor 3 isoform X2

    See identical proteins and their annotated locations for XP_011532066.1

    Conserved Domains (2) summary
    cd10572
    Location:334466
    PH_RhoGEF3_XPLN; Rho guanine nucleotide exchange factor 3 Pleckstrin homology (PH) domain
    pfam00621
    Location:144320
    RhoGEF; RhoGEF domain
  5. XM_011533767.1XP_011532069.1  rho guanine nucleotide exchange factor 3 isoform X9

    Conserved Domains (2) summary
    cd10572
    Location:202334
    PH_RhoGEF3_XPLN; Rho guanine nucleotide exchange factor 3 Pleckstrin homology (PH) domain
    pfam00621
    Location:12188
    RhoGEF; RhoGEF domain
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