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    ARHGEF10L Rho guanine nucleotide exchange factor 10 like [ Homo sapiens (human) ]

    Gene ID: 55160, updated on 17-Jun-2019

    Summary

    Official Symbol
    ARHGEF10Lprovided by HGNC
    Official Full Name
    Rho guanine nucleotide exchange factor 10 likeprovided by HGNC
    Primary source
    HGNC:HGNC:25540
    See related
    Ensembl:ENSG00000074964 MIM:612494
    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
    GrinchGEF
    Summary
    This gene belongs to the RhoGEF subfamily of RhoGTPases. Members of this subfamily are activated by specific guanine nucleotide exchange factors (GEFs) and are involved in signal transduction. The encoded protein shows cytosolic distribution. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2016]
    Expression
    Ubiquitous expression in kidney (RPKM 7.7), colon (RPKM 6.9) and 24 other tissues See more
    Orthologs

    Genomic context

    See ARHGEF10L in Genome Data Viewer
    Location:
    1p36.13
    Exon count:
    37
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (17513442..17697875)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (17846693..18024370)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene peptidyl arginine deiminase 6 Neighboring gene regulator of chromosome condensation 2 Neighboring gene long intergenic non-protein coding RNA 2810 Neighboring gene actin like 8

    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 FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    Serum ferritin levels are associated with a distinct phenotype of chronic hepatitis C poorly responding to pegylated interferon-alpha and ribavirin therapy.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Cell death signalling via NRAGE, NRIF and NADE, organism-specific biosystem (from REACTOME)
      Cell death signalling via NRAGE, NRIF and NADE, organism-specific biosystemp75NTR is a key regulator of neuronal apoptosis, both during development and after injury. Apoptosis is triggered by binding of either mature neurotrophin or proneurotrophin (proNGF, proBDNF). ProNG...
    • G alpha (12/13) signalling events, organism-specific biosystem (from REACTOME)
      G alpha (12/13) signalling events, organism-specific biosystemThe G12/13 family is probably the least well characterized subtype, partly because G12/13 coupling is difficult to determine when compared with the other subtypes which predominantly rely on assay te...
    • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
      GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
    • NRAGE signals death through JNK, organism-specific biosystem (from REACTOME)
      NRAGE signals death through JNK, organism-specific biosystemOnce bound by either NGF or proNGF, p75NTR interacts with NRAGE, thus leading to phosphorylation and activation of JUN Kinase (JNK). JNK controls apoptosis in two ways: it induces transcription of pr...
    • Regulation of RhoA activity, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of RhoA activity, organism-specific biosystem
      Regulation of RhoA activity
    • Rho GTPase cycle, organism-specific biosystem (from REACTOME)
      Rho GTPase cycle, organism-specific biosystemThe cycling of Rho GTPases is tightly controlled by three classes of protein. These are (1) guanine nucleotide dissociation inhibitors or GDIs, which maintain Rho proteins in an inactive state in the...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by GPCR, organism-specific biosystem (from REACTOME)
      Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
    • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
      Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
    • Signalling by NGF, organism-specific biosystem (from REACTOME)
      Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
    • p75 NTR receptor-mediated signalling, organism-specific biosystem (from REACTOME)
      p75 NTR receptor-mediated signalling, organism-specific biosystemBesides signalling through the tyrosine kinase receptors TRK A, B, and C, the mature neurotrophins NGF, BDNF, and NT3/4 signal through their common receptor p75NTR. NGF binding to p75NTR activates a ...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ10521, KIAA1626

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTPase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Rho guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    SREBP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    SREBP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of stress fiber assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of stress fiber assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of Rho protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    rho guanine nucleotide exchange factor 10-like protein
    Names
    Rho guanine nucleotide exchange factor (GEF) 10-like

    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_050860.1 RefSeqGene

      Range
      24639..182679
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001011722.2NP_001011722.2  rho guanine nucleotide exchange factor 10-like protein isoform 2

      See identical proteins and their annotated locations for NP_001011722.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon, as compared to variant 1. The encoded isoform 2 thus lacks an internal segment, as compared to isoform 1.
      Source sequence(s)
      AB046846, AK092020, AW455769, BC080596
      Consensus CDS
      CCDS30617.1
      UniProtKB/Swiss-Prot
      Q9HCE6
      Related
      ENSP00000364564.1, ENST00000375415.5
      Conserved Domains (3) summary
      pfam00621
      Location:285463
      RhoGEF; RhoGEF domain
      sd00039
      Location:888931
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:8611011
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    2. NM_001319837.1NP_001306766.1  rho guanine nucleotide exchange factor 10-like protein isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two alternate in-frame exons in the 5' coding region, compared to variant 1. It encodes isoform 3, which lacks two separate internal in-frame segments and is shorter than isoform 1.
      Source sequence(s)
      AB046846, BC111058, BU738615, DQ139833
      UniProtKB/Swiss-Prot
      Q9HCE6
      Conserved Domains (3) summary
      pfam00621
      Location:285463
      RhoGEF; RhoGEF domain
      sd00039
      Location:883926
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:8561006
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    3. NM_001319838.1NP_001306767.1  rho guanine nucleotide exchange factor 10-like protein isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents use of an alternate promoter. It differs in the 5' UTR and 5' coding region, uses an alternate start codon and lacks three alternate exons in the coding region, compared to variant 1. It encodes isoform 4, which is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK092020, BC111058, BU738615, DA468685, DQ139833
      UniProtKB/Swiss-Prot
      Q9HCE6
      Conserved Domains (3) summary
      sd00039
      Location:630673
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:603753
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      cl02571
      Location:102210
      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.
    4. NM_001328124.1NP_001315053.1  rho guanine nucleotide exchange factor 10-like protein isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) represents use of an alternate promoter and contains novel 5' UTR and 5' coding region, compared to variant 1. It encodes isoform 5, which is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK092020, AK300264, BC080596, BC111058, DA468685
      UniProtKB/Swiss-Prot
      Q9HCE6
      UniProtKB/TrEMBL
      B4DTL3
      Conserved Domains (3) summary
      pfam00621
      Location:102280
      RhoGEF; RhoGEF domain
      sd00039
      Location:705748
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:678828
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    5. NM_018125.4NP_060595.3  rho guanine nucleotide exchange factor 10-like protein isoform 1

      See identical proteins and their annotated locations for NP_060595.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AB046846, AK092020, AL390994, AW455769, BC065561
      Consensus CDS
      CCDS182.1
      UniProtKB/Swiss-Prot
      Q9HCE6
      Related
      ENSP00000355060.3, ENST00000361221.8
      Conserved Domains (2) summary
      cd00160
      Location:317501
      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.
      sd00039
      Location:927970
      7WD40; WD40 repeat [structural motif]

    RNA

    1. NR_137287.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB046846, AK092020, AL358593, BC111058
    2. NR_137288.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks an alternate internal exon and contains an additional internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB046846, AK092020, AL358593, BC111058

    RefSeqs of Annotated Genomes: Homo sapiens 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_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      17513442..17697875
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024448061.1XP_024303829.1  rho guanine nucleotide exchange factor 10-like protein isoform X1

      Conserved Domains (2) summary
      cd00160
      Location:282466
      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.
      sd00039
      Location:892935
      7WD40; WD40 repeat [structural motif]
    2. XM_006710728.1XP_006710791.1  rho guanine nucleotide exchange factor 10-like protein isoform X1

      See identical proteins and their annotated locations for XP_006710791.1

      Conserved Domains (2) summary
      cd00160
      Location:282466
      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.
      sd00039
      Location:892935
      7WD40; WD40 repeat [structural motif]
    3. XM_006710731.1XP_006710794.1  rho guanine nucleotide exchange factor 10-like protein isoform X2

      See identical proteins and their annotated locations for XP_006710794.1

      Conserved Domains (3) summary
      pfam00621
      Location:288466
      RhoGEF; RhoGEF domain
      sd00039
      Location:891934
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:8641014
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    4. XM_005245923.2XP_005245980.2  rho guanine nucleotide exchange factor 10-like protein isoform X1

      See identical proteins and their annotated locations for XP_005245980.2

      Conserved Domains (2) summary
      cd00160
      Location:282466
      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.
      sd00039
      Location:892935
      7WD40; WD40 repeat [structural motif]
    5. XM_006710729.1XP_006710792.1  rho guanine nucleotide exchange factor 10-like protein isoform X2

      See identical proteins and their annotated locations for XP_006710792.1

      Conserved Domains (3) summary
      pfam00621
      Location:288466
      RhoGEF; RhoGEF domain
      sd00039
      Location:891934
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:8641014
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    6. XM_005245925.2XP_005245982.2  rho guanine nucleotide exchange factor 10-like protein isoform X4

      See identical proteins and their annotated locations for XP_005245982.2

      Conserved Domains (3) summary
      pfam00621
      Location:285463
      RhoGEF; RhoGEF domain
      sd00039
      Location:888931
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:8611011
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    7. XM_017001617.1XP_016857106.1  rho guanine nucleotide exchange factor 10-like protein isoform X7

      Conserved Domains (3) summary
      pfam00621
      Location:285463
      RhoGEF; RhoGEF domain
      sd00039
      Location:883926
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:8561006
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    8. XM_024448059.1XP_024303827.1  rho guanine nucleotide exchange factor 10-like protein isoform X1

      Conserved Domains (2) summary
      cd00160
      Location:282466
      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.
      sd00039
      Location:892935
      7WD40; WD40 repeat [structural motif]
    9. XM_024448062.1XP_024303830.1  rho guanine nucleotide exchange factor 10-like protein isoform X1

      Conserved Domains (2) summary
      cd00160
      Location:282466
      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.
      sd00039
      Location:892935
      7WD40; WD40 repeat [structural motif]
    10. XM_017001621.1XP_016857110.1  rho guanine nucleotide exchange factor 10-like protein isoform X12

      Conserved Domains (2) summary
      cd00160
      Location:317501
      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.
      sd00039
      Location:927970
      7WD40; WD40 repeat [structural motif]
    11. XM_017001622.1XP_016857111.1  rho guanine nucleotide exchange factor 10-like protein isoform X13

    12. XM_011541692.2XP_011539994.1  rho guanine nucleotide exchange factor 10-like protein isoform X5

      Conserved Domains (3) summary
      pfam00621
      Location:289467
      RhoGEF; RhoGEF domain
      sd00039
      Location:887930
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:8601010
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    13. XM_011541691.2XP_011539993.1  rho guanine nucleotide exchange factor 10-like protein isoform X3

      Conserved Domains (3) summary
      pfam00621
      Location:286464
      RhoGEF; RhoGEF domain
      sd00039
      Location:889932
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:8621012
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    14. XM_011541693.2XP_011539995.1  rho guanine nucleotide exchange factor 10-like protein isoform X6

      Conserved Domains (3) summary
      pfam00621
      Location:286464
      RhoGEF; RhoGEF domain
      sd00039
      Location:884927
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:8571007
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    15. XM_017001619.1XP_016857108.1  rho guanine nucleotide exchange factor 10-like protein isoform X10

    16. XM_017001620.1XP_016857109.1  rho guanine nucleotide exchange factor 10-like protein isoform X11

    17. XM_017001618.1XP_016857107.1  rho guanine nucleotide exchange factor 10-like protein isoform X9

    18. XM_005245929.3XP_005245986.2  rho guanine nucleotide exchange factor 10-like protein isoform X8

      UniProtKB/TrEMBL
      Q5VXI4
      Related
      ENSP00000364557.3, ENST00000375408.7
      Conserved Domains (3) summary
      pfam00621
      Location:102280
      RhoGEF; RhoGEF domain
      sd00039
      Location:700743
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:673823
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    RNA

    1. XR_001737276.1 RNA Sequence

    2. XR_946690.2 RNA Sequence

    3. XR_002956988.1 RNA Sequence

    4. XR_001737277.1 RNA Sequence

    5. XR_002956989.1 RNA Sequence

    6. XR_946686.3 RNA Sequence

    7. XR_946688.2 RNA Sequence

    8. XR_946689.2 RNA Sequence

    9. XR_946691.2 RNA Sequence

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