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ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 [ Homo sapiens (human) ]

Gene ID: 9459, updated on 12-Oct-2019

Summary

Official Symbol
ARHGEF6provided by HGNC
Official Full Name
Rac/Cdc42 guanine nucleotide exchange factor 6provided by HGNC
Primary source
HGNC:HGNC:685
See related
Ensembl:ENSG00000129675 MIM:300267
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
PIXA; COOL2; MRX46; Cool-2; alphaPIX; alpha-PIX
Summary
Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It may form a complex with G proteins and stimulate Rho-dependent signals. This protein is activated by PI3-kinase. Mutations in this gene can cause X-chromosomal non-specific cognitive disability. [provided by RefSeq, Jul 2008]
Expression
Broad expression in fat (RPKM 22.0), lymph node (RPKM 16.8) and 24 other tissues See more
Orthologs

Genomic context

See ARHGEF6 in Genome Data Viewer
Location:
Xq26.3
Exon count:
25
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (136665547..136780945, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (135747708..135863503, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 892 Neighboring gene CD40 ligand Neighboring gene RNA, U6 small nuclear 972, pseudogene Neighboring gene solute carrier family 25 member 6 pseudogene Neighboring gene ribosomal protein L7 pseudogene 56

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

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2012-04-25)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2012-04-25)

ClinGen Genome Curation Page

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Nef nef HIV-1 Nef binding and activation of p62 PAK induces the interaction and phosphorylation of PIX with the Nef-PAK complex PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0006

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity NAS
Non-traceable Author Statement
more info
PubMed 
Rho guanyl-nucleotide exchange factor activity NAS
Non-traceable Author Statement
more info
PubMed 
guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
JNK cascade NAS
Non-traceable Author Statement
more info
PubMed 
apoptotic process NAS
Non-traceable Author Statement
more info
PubMed 
lamellipodium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of apoptotic process TAS
Traceable Author Statement
more info
 
regulation of Rho protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
lamellipodium ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
rho guanine nucleotide exchange factor 6
Names
PAK-interacting exchange factor, alpha
Rac/Cdc42 guanine exchange factor (GEF) 6
Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6

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.

Genomic

  1. NG_008873.1 RefSeqGene

    Range
    5413..120795
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001306177.2NP_001293106.1  rho guanine nucleotide exchange factor 6 isoform 2

    See identical proteins and their annotated locations for NP_001293106.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two 5' exons and contains an alternate 5' terminal exon, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK294929, AK295709, AL135783, BC033768
    Consensus CDS
    CCDS78509.1
    UniProtKB/Swiss-Prot
    Q15052
    UniProtKB/TrEMBL
    B7Z3C7, Q8N4Q3
    Related
    ENSP00000359654.1, ENST00000370620.5
    Conserved Domains (6) summary
    cd12060
    Location:865
    SH3_alphaPIX; Src Homology 3 domain of alpha-Pak Interactive eXchange factor
    cd00160
    Location:88265
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    cd01225
    Location:296393
    PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
    pfam00169
    Location:313394
    PH; PH domain
    pfam16523
    Location:527613
    betaPIX_CC; betaPIX coiled coil
    pfam16614
    Location:419524
    RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
  2. NM_004840.3NP_004831.1  rho guanine nucleotide exchange factor 6 isoform 1

    See identical proteins and their annotated locations for NP_004831.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC033768, BC039856
    Consensus CDS
    CCDS14660.1
    UniProtKB/Swiss-Prot
    Q15052
    UniProtKB/TrEMBL
    Q8N4Q3
    Related
    ENSP00000250617.6, ENST00000250617.7
    Conserved Domains (8) summary
    cd12060
    Location:162219
    SH3_alphaPIX; Src Homology 3 domain of alpha-Pak Interactive eXchange factor
    cd00160
    Location:242419
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    cd01225
    Location:450547
    PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
    pfam00169
    Location:467548
    PH; PH domain
    pfam00307
    Location:3105
    CH; Calponin homology (CH) domain
    pfam16523
    Location:681767
    betaPIX_CC; betaPIX coiled coil
    pfam16614
    Location:573678
    RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
    pfam16615
    Location:115160
    RhoGEF67_u1; Unstructured region one on RhoGEF 6 and 7

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    136665547..136780945 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531413.2XP_011529715.1  rho guanine nucleotide exchange factor 6 isoform X4

    Conserved Domains (8) summary
    cd12060
    Location:162219
    SH3_alphaPIX; Src Homology 3 domain of alpha-Pak Interactive eXchange factor
    cd00160
    Location:242419
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    cd01225
    Location:450547
    PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
    pfam00169
    Location:467548
    PH; PH domain
    pfam00307
    Location:3105
    CH; Calponin homology (CH) domain
    pfam16523
    Location:685771
    betaPIX_CC; betaPIX coiled coil
    pfam16614
    Location:578682
    RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
    pfam16615
    Location:115160
    RhoGEF67_u1; Unstructured region one on RhoGEF 6 and 7
  2. XM_005262499.3XP_005262556.1  rho guanine nucleotide exchange factor 6 isoform X5

    Conserved Domains (8) summary
    cd12060
    Location:162219
    SH3_alphaPIX; Src Homology 3 domain of alpha-Pak Interactive eXchange factor
    cd00160
    Location:242419
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    cd01225
    Location:450547
    PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
    pfam00169
    Location:467548
    PH; PH domain
    pfam00307
    Location:3105
    CH; Calponin homology (CH) domain
    pfam16523
    Location:632718
    betaPIX_CC; betaPIX coiled coil
    pfam16614
    Location:572629
    RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
    pfam16615
    Location:115160
    RhoGEF67_u1; Unstructured region one on RhoGEF 6 and 7
  3. XM_011531414.2XP_011529716.1  rho guanine nucleotide exchange factor 6 isoform X3

    Conserved Domains (8) summary
    cd12060
    Location:162219
    SH3_alphaPIX; Src Homology 3 domain of alpha-Pak Interactive eXchange factor
    cd00160
    Location:242419
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    cd01225
    Location:450547
    PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
    pfam00169
    Location:467548
    PH; PH domain
    pfam00307
    Location:3105
    CH; Calponin homology (CH) domain
    pfam16523
    Location:678764
    betaPIX_CC; betaPIX coiled coil
    pfam16614
    Location:578675
    RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
    pfam16615
    Location:115160
    RhoGEF67_u1; Unstructured region one on RhoGEF 6 and 7
  4. XM_011531412.3XP_011529714.1  rho guanine nucleotide exchange factor 6 isoform X1

    Conserved Domains (8) summary
    cd12060
    Location:162219
    SH3_alphaPIX; Src Homology 3 domain of alpha-Pak Interactive eXchange factor
    cd00160
    Location:269446
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    cd01225
    Location:477574
    PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
    pfam00169
    Location:494575
    PH; PH domain
    pfam00307
    Location:3105
    CH; Calponin homology (CH) domain
    pfam16523
    Location:708794
    betaPIX_CC; betaPIX coiled coil
    pfam16614
    Location:600705
    RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
    pfam16615
    Location:115160
    RhoGEF67_u1; Unstructured region one on RhoGEF 6 and 7
  5. XM_011531415.3XP_011529717.1  rho guanine nucleotide exchange factor 6 isoform X6

    Conserved Domains (7) summary
    cd12060
    Location:105162
    SH3_alphaPIX; Src Homology 3 domain of alpha-Pak Interactive eXchange factor
    cd00160
    Location:212389
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    cd01225
    Location:420517
    PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
    pfam00169
    Location:437518
    PH; PH domain
    pfam16523
    Location:651737
    betaPIX_CC; betaPIX coiled coil
    pfam16614
    Location:543648
    RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
    pfam16615
    Location:58103
    RhoGEF67_u1; Unstructured region one on RhoGEF 6 and 7
  6. XM_017029975.2XP_016885464.1  rho guanine nucleotide exchange factor 6 isoform X2

  7. XM_011531416.3XP_011529718.1  rho guanine nucleotide exchange factor 6 isoform X7

    See identical proteins and their annotated locations for XP_011529718.1

    UniProtKB/TrEMBL
    B7Z3C7
    Conserved Domains (6) summary
    cd12060
    Location:865
    SH3_alphaPIX; Src Homology 3 domain of alpha-Pak Interactive eXchange factor
    cd00160
    Location:115292
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    cd01225
    Location:323420
    PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
    pfam00169
    Location:340421
    PH; PH domain
    pfam16523
    Location:554640
    betaPIX_CC; betaPIX coiled coil
    pfam16614
    Location:446551
    RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
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