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    ARHGAP24 Rho GTPase activating protein 24 [ Homo sapiens (human) ]

    Gene ID: 83478, updated on 3-Apr-2024

    Summary

    Official Symbol
    ARHGAP24provided by HGNC
    Official Full Name
    Rho GTPase activating protein 24provided by HGNC
    Primary source
    HGNC:HGNC:25361
    See related
    Ensembl:ENSG00000138639 MIM:610586; AllianceGenome:HGNC:25361
    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
    p73; FILGAP; RCGAP72; RC-GAP72; p73RhoGAP
    Summary
    This gene encodes a Rho-GTPase activating protein, which is specific for the small GTPase family member Rac. Binding of the encoded protein by filamin A targets it to sites of membrane protrusion, where it antognizes Rac. This results in suppression of lamellae formation and promotion of retraction to regulate cell polarity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
    Expression
    Broad expression in kidney (RPKM 13.8), thyroid (RPKM 4.3) and 20 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    4q21.23-q21.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (85475150..86002666)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (88804774..89332147)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (86396303..86923819)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:86087809-86088309 Neighboring gene RN7SK pseudogene 48 Neighboring gene quinone oxidoreductase-like protein 2 pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:86241730-86242929 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:86322472-86323671 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21690 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21691 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21692 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21693 Neighboring gene uncharacterized LOC105377319 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:86587778-86588977 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21694 Neighboring gene uncharacterized LOC124900728 Neighboring gene Sharpr-MPRA regulatory region 4363 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:86694939-86695479 Neighboring gene NANOG hESC enhancer GRCh37_chr4:86709821-86710322 Neighboring gene microRNA 4451 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:86747140-86747682 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:86996696-86997266 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:86997267-86997836 Neighboring gene mitogen-activated protein kinase 10 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:87055698-87056244 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:87056245-87056789 Neighboring gene MAPK10 antisense RNA 1 Neighboring gene RN7SK pseudogene 96

    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

    EBI GWAS Catalog

    Description
    Genetic determinants of P wave duration and PR segment.
    EBI GWAS Catalog
    Genome-wide association study of PR interval.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog
    Novel loci associated with PR interval in a genome-wide association study of 10 African American cohorts.
    EBI GWAS Catalog
    Several common variants modulate heart rate, PR interval and QRS duration.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ33877, DKFZp564B1162

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in activation of GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of Rac protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of ruffle assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in wound healing, spreading of epidermal cells IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in adherens junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in focal adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    rho GTPase-activating protein 24
    Names
    RAC1- and CDC42-specific GTPase-activating protein of 72 kDa
    filamin-A-associated RhoGAP
    rhoGAP of 73 kDa
    sarcoma antigen NY-SAR-88

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_051627.1 RefSeqGene

      Range
      5020..532536
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001025616.3NP_001020787.2  rho GTPase-activating protein 24 isoform 1

      See identical proteins and their annotated locations for NP_001020787.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC104059, AK091196, BC098580, DA815489, DB109452
      Consensus CDS
      CCDS34025.1
      UniProtKB/Swiss-Prot
      Q4KMG1, Q6ZNV3, Q86TI5, Q86WE4, Q8N264, Q9H0T6
      UniProtKB/TrEMBL
      A0A2X0SFU2
      Related
      ENSP00000378611.1, ENST00000395184.6
      Conserved Domains (4) summary
      cd04390
      Location:131329
      RhoGAP_ARHGAP22_24_25; RhoGAP_ARHGAP22_24_25: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP22, 24 and 25-like proteins; longer isoforms of these proteins contain an additional N-terminal pleckstrin homology (PH) domain. ARHGAP25 (KIA0053) has been ...
      cd13379
      Location:18131
      PH_RhoGap24; Rho GTPase activating protein 24 Pleckstrin homology (PH) domain
      pfam00169
      Location:21124
      PH; PH domain
      pfam08614
      Location:609723
      ATG16; Autophagy protein 16 (ATG16)
    2. NM_001042669.2NP_001036134.1  rho GTPase-activating protein 24 isoform 3

      See identical proteins and their annotated locations for NP_001036134.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC104059, BC098580
      Consensus CDS
      CCDS43246.1
      UniProtKB/TrEMBL
      B3KUX7
      Related
      ENSP00000378610.2, ENST00000395183.6
      Conserved Domains (3) summary
      cd04390
      Location:36234
      RhoGAP_ARHGAP22_24_25; RhoGAP_ARHGAP22_24_25: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP22, 24 and 25-like proteins; longer isoforms of these proteins contain an additional N-terminal pleckstrin homology (PH) domain. ARHGAP25 (KIA0053) has been ...
      cl17171
      Location:136
      PH-like; Pleckstrin homology-like domain
      cl25732
      Location:515629
      SMC_N; RecF/RecN/SMC N terminal domain
    3. NM_001287805.2NP_001274734.1  rho GTPase-activating protein 24 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (4) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC104059, AK307423
      UniProtKB/TrEMBL
      D6RCP5
      Related
      ENSP00000425589.1, ENST00000514229.5
      Conserved Domains (4) summary
      cd04390
      Location:46244
      RhoGAP_ARHGAP22_24_25; RhoGAP_ARHGAP22_24_25: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP22, 24 and 25-like proteins; longer isoforms of these proteins contain an additional N-terminal pleckstrin homology (PH) domain. ARHGAP25 (KIA0053) has been ...
      pfam00169
      Location:1439
      PH; PH domain
      pfam08614
      Location:524638
      ATG16; Autophagy protein 16 (ATG16)
      cl17171
      Location:346
      PH-like; Pleckstrin homology-like domain
    4. NM_001346093.2NP_001333022.1  rho GTPase-activating protein 24 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC097108, AC098870, AC104059, AC139716
      UniProtKB/TrEMBL
      B3KUX7
    5. NM_031305.3NP_112595.2  rho GTPase-activating protein 24 isoform 2

      See identical proteins and their annotated locations for NP_112595.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC098870, AC104059, BC098580
      Consensus CDS
      CCDS3611.1
      UniProtKB/TrEMBL
      B3KUX7
      Related
      ENSP00000264343.4, ENST00000264343.4
      Conserved Domains (2) summary
      cd04390
      Location:38236
      RhoGAP_ARHGAP22_24_25; RhoGAP_ARHGAP22_24_25: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP22, 24 and 25-like proteins; longer isoforms of these proteins contain an additional N-terminal pleckstrin homology (PH) domain. ARHGAP25 (KIA0053) has been ...
      pfam08614
      Location:516630
      ATG16; Autophagy protein 16 (ATG16)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      85475150..86002666
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024454238.2XP_024310006.1  rho GTPase-activating protein 24 isoform X1

      UniProtKB/TrEMBL
      B3KUX7
      Conserved Domains (3) summary
      cd04390
      Location:36234
      RhoGAP_ARHGAP22_24_25; RhoGAP_ARHGAP22_24_25: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP22, 24 and 25-like proteins; longer isoforms of these proteins contain an additional N-terminal pleckstrin homology (PH) domain. ARHGAP25 (KIA0053) has been ...
      cl17171
      Location:136
      PH-like; Pleckstrin homology-like domain
      cl25732
      Location:515629
      SMC_N; RecF/RecN/SMC N terminal domain
    2. XM_047416235.1XP_047272191.1  rho GTPase-activating protein 24 isoform X1

    3. XM_011532300.3XP_011530602.1  rho GTPase-activating protein 24 isoform X1

      See identical proteins and their annotated locations for XP_011530602.1

      UniProtKB/TrEMBL
      B3KUX7
      Conserved Domains (3) summary
      cd04390
      Location:36234
      RhoGAP_ARHGAP22_24_25; RhoGAP_ARHGAP22_24_25: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP22, 24 and 25-like proteins; longer isoforms of these proteins contain an additional N-terminal pleckstrin homology (PH) domain. ARHGAP25 (KIA0053) has been ...
      cl17171
      Location:136
      PH-like; Pleckstrin homology-like domain
      cl25732
      Location:515629
      SMC_N; RecF/RecN/SMC N terminal domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      88804774..89332147
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350953.1XP_054206928.1  rho GTPase-activating protein 24 isoform X1

    2. XM_054350954.1XP_054206929.1  rho GTPase-activating protein 24 isoform X1