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    Arhgef7 Rho guanine nucleotide exchange factor (GEF7) [ Mus musculus (house mouse) ]

    Gene ID: 54126, updated on 19-Feb-2019

    Summary

    Official Symbol
    Arhgef7provided by MGI
    Official Full Name
    Rho guanine nucleotide exchange factor (GEF7)provided by MGI
    Primary source
    MGI:MGI:1860493
    See related
    Ensembl:ENSMUSG00000031511
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    PIX; Cool; Pak3bp; cool-1; p85SPR; betaPix; p85Cool1; betaPix-b; betaPix-c; mKIAA0142
    Expression
    Ubiquitous expression in cerebellum adult (RPKM 15.8), whole brain E14.5 (RPKM 14.4) and 28 other tissues See more
    Orthologs

    Genomic context

    See Arhgef7 in Genome Data Viewer
    Location:
    8; 8 A1.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 8 NC_000074.6 (11728105..11835219)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 8 NC_000074.5 (11728105..11835219)

    Chromosome 8 - NC_000074.6Genomic Context describing neighboring genes Neighboring gene katanin p60 (ATPase-containing) subunit A1 pseudogene Neighboring gene RIKEN cDNA 1700128E19 gene Neighboring gene predicted gene 45420 Neighboring gene NSA2 ribosome biogenesis homolog pseudogene Neighboring gene predicted gene, 46031 Neighboring gene testis expressed 29 Neighboring gene predicted gene, 39132

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (1) 

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    contributes_to Rac GTPase binding ISO
    Inferred from Sequence Orthology
    more info
     
    Rho guanyl-nucleotide exchange factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    guanyl-nucleotide exchange factor activity ISO
    Inferred from Sequence Orthology
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    Golgi organization ISO
    Inferred from Sequence Orthology
    more info
     
    astrocyte cell migration ISO
    Inferred from Sequence Orthology
    more info
     
    hematopoietic progenitor cell differentiation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    lamellipodium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of GTPase activity HMP PubMed 
    positive regulation of GTPase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of GTPase activity ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of growth hormone secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of protein binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    postsynaptic actin cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
     
    presynaptic actin cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of GTP binding ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of Rho protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    small GTPase mediated signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    GABA-ergic synapse ISO
    Inferred from Sequence Orthology
    more info
     
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    focal adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    growth cone ISO
    Inferred from Sequence Orthology
    more info
     
    lamellipodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuron projection ISO
    Inferred from Sequence Orthology
    more info
     
    neuronal cell body ISO
    Inferred from Sequence Orthology
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
     
    storage vacuole IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    rho guanine nucleotide exchange factor 7
    Names
    PAK-interacting exchange factor beta
    Pak3 binding protein
    beta-Pix

    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_001113517.1NP_001106989.1  rho guanine nucleotide exchange factor 7 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform a).
      Source sequence(s)
      AK129064, AW045898, BB126470, CD351109
      Consensus CDS
      CCDS52480.1
      UniProtKB/Swiss-Prot
      Q9ES28
      Related
      ENSMUSP00000106534.2, ENSMUST00000110909.8
      Conserved Domains (7) summary
      cd12061
      Location:167220
      SH3_betaPIX; Src Homology 3 domain of beta-Pak Interactive eXchange factor
      cd00014
      Location:3107
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00160
      Location:251428
      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:459557
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam00169
      Location:477557
      PH; PH domain
      pfam16614
      Location:613711
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      pfam16615
      Location:117163
      RhoGEF67_u1; Unstructured region one on RhoGEF 6 and 7
    2. NM_001113518.1NP_001106990.1  rho guanine nucleotide exchange factor 7 isoform b

      See identical proteins and their annotated locations for NP_001106990.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and contains multiple coding differences including translation initiation at a downstream start codon, compared to variant 1. The resulting isoform (b) is shorter than isoform a.
      Source sequence(s)
      AF247654, AK052545, AK129064, AW046058, BY127183
      Consensus CDS
      CCDS52481.1
      UniProtKB/Swiss-Prot
      Q9ES28
      Related
      ENSMUSP00000096538.2, ENSMUST00000098938.8
      Conserved Domains (6) summary
      cd12061
      Location:1063
      SH3_betaPIX; Src Homology 3 domain of beta-Pak Interactive eXchange factor
      cd00160
      Location:94271
      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:302400
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam00169
      Location:320400
      PH; PH domain
      pfam16523
      Location:616702
      betaPIX_CC; betaPIX coiled coil
      pfam16614
      Location:456554
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
    3. NM_017402.4NP_059098.2  rho guanine nucleotide exchange factor 7 isoform c

      See identical proteins and their annotated locations for NP_059098.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and contains multiple coding differences including translation initiation at a downstream start codon, compared to variant 1. The resulting isoform (c) is shorter than isoform a.
      Source sequence(s)
      AK052545, AW046058, BY127183
      Consensus CDS
      CCDS22099.1
      UniProtKB/Swiss-Prot
      Q9ES28
      UniProtKB/TrEMBL
      A0A0R4J0X8
      Related
      ENSMUSP00000074399.6, ENSMUST00000074856.12
      Conserved Domains (6) summary
      cd12061
      Location:1063
      SH3_betaPIX; Src Homology 3 domain of beta-Pak Interactive eXchange factor
      cd00160
      Location:94271
      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:302400
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam00169
      Location:320400
      PH; PH domain
      pfam16523
      Location:557643
      betaPIX_CC; betaPIX coiled coil
      pfam16614
      Location:456554
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000074.6 Reference GRCm38.p4 C57BL/6J

      Range
      11728105..11835219
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006508841.2XP_006508904.2  rho guanine nucleotide exchange factor 7 isoform X1

      See identical proteins and their annotated locations for XP_006508904.2

      UniProtKB/Swiss-Prot
      Q9ES28
      Conserved Domains (8) summary
      cd12061
      Location:167220
      SH3_betaPIX; Src Homology 3 domain of beta-Pak Interactive eXchange factor
      cd00014
      Location:3107
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00160
      Location:251428
      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:459557
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam00169
      Location:477557
      PH; PH domain
      pfam16523
      Location:773859
      betaPIX_CC; betaPIX coiled coil
      pfam16614
      Location:613711
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      pfam16615
      Location:117163
      RhoGEF67_u1; Unstructured region one on RhoGEF 6 and 7
    2. XM_006508844.2XP_006508907.2  rho guanine nucleotide exchange factor 7 isoform X3

      UniProtKB/Swiss-Prot
      Q9ES28
      Conserved Domains (8) summary
      cd12061
      Location:167220
      SH3_betaPIX; Src Homology 3 domain of beta-Pak Interactive eXchange factor
      cd00014
      Location:3107
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00160
      Location:251428
      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:459557
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam00169
      Location:477557
      PH; PH domain
      pfam16523
      Location:698784
      betaPIX_CC; betaPIX coiled coil
      pfam16614
      Location:576636
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      pfam16615
      Location:117163
      RhoGEF67_u1; Unstructured region one on RhoGEF 6 and 7
    3. XM_006508843.3XP_006508906.2  rho guanine nucleotide exchange factor 7 isoform X2

      UniProtKB/Swiss-Prot
      Q9ES28
      Conserved Domains (8) summary
      cd12061
      Location:167220
      SH3_betaPIX; Src Homology 3 domain of beta-Pak Interactive eXchange factor
      cd00014
      Location:3107
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00160
      Location:251428
      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:459557
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam00169
      Location:477557
      PH; PH domain
      pfam16523
      Location:714800
      betaPIX_CC; betaPIX coiled coil
      pfam16614
      Location:613711
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      pfam16615
      Location:117163
      RhoGEF67_u1; Unstructured region one on RhoGEF 6 and 7
    4. XM_006508845.3XP_006508908.1  rho guanine nucleotide exchange factor 7 isoform X4

      Conserved Domains (7) summary
      cd12061
      Location:85138
      SH3_betaPIX; Src Homology 3 domain of beta-Pak Interactive eXchange factor
      cd00160
      Location:169346
      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:377475
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam00169
      Location:395475
      PH; PH domain
      pfam16523
      Location:691777
      betaPIX_CC; betaPIX coiled coil
      pfam16614
      Location:531629
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      pfam16615
      Location:3581
      RhoGEF67_u1; Unstructured region one on RhoGEF 6 and 7
    5. XM_017312901.1XP_017168390.1  rho guanine nucleotide exchange factor 7 isoform X5

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