Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

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

    Gene ID: 9459, updated on 22-Apr-2017
    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; Vega:OTTHUMG00000022518
    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 mental retardation. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    Xq26.3
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (136665547..136781656, 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

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Mental retardation 46, X-linked
    MedGen: C1845526 OMIM: 300436 GeneReviews: Not available
    Compare labs

    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

    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

    Products Interactant Other Gene Complex Source Pubs Description

    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 
    Rho guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
     
    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
    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
     
    intracellular IC
    Inferred by Curator
    more info
    PubMed 
    lamellipodium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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

    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
      5001..120795
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001306177.1NP_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, BC033768
      Consensus CDS
      CCDS78509.1
      UniProtKB/Swiss-Prot
      Q15052
      UniProtKB/TrEMBL
      B7Z3C7, Q8N4Q3
      Related
      ENSP00000359654.1, OTTHUMP00000024136, ENST00000370620.5, OTTHUMT00000058513
      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_004840.2NP_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, OTTHUMP00000024134, ENST00000250617.6, OTTHUMT00000058511
      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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      136665547..136781656 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005262499.2XP_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
    2. XM_011531414.1XP_011529716.1  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: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
    3. XM_011531413.1XP_011529715.1  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: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
    4. XM_017029975.1XP_016885464.1  rho guanine nucleotide exchange factor 6 isoform X1

    5. XM_017029976.1XP_016885465.1  rho guanine nucleotide exchange factor 6 isoform X9

    6. XM_011531417.1XP_011529719.1  rho guanine nucleotide exchange factor 6 isoform X8

      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:531617
      betaPIX_CC; betaPIX coiled coil
      pfam16614
      Location:424528
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
    7. XM_011531412.2XP_011529714.1  rho guanine nucleotide exchange factor 6 isoform X2

      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
    8. XM_011531416.2XP_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
    9. XM_011531415.2XP_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

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      135659375..135775269 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center