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

Gene ID: 55160, updated on 11-Sep-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
109.20190905 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 Functions

What'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
    24502..182673
    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_137287.2 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, AL390994, BC111058
  2. NR_137288.2 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, AL390994, BC111058

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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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