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    ARHGAP44 Rho GTPase activating protein 44 [ Homo sapiens (human) ]

    Gene ID: 9912, updated on 6-Jun-2024

    Summary

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    Official Symbol
    ARHGAP44provided by HGNC
    Official Full Name
    Rho GTPase activating protein 44provided by HGNC
    Primary source
    HGNC:HGNC:29096
    See related
    Ensembl:ENSG00000006740 MIM:617716; AllianceGenome:HGNC:29096
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RICH2; NPC-A-10
    Summary
    Enables phospholipid binding activity. Predicted to be involved in several processes, including modification of dendritic spine; negative regulation of Rac protein signal transduction; and regulation of plasma membrane bounded cell projection organization. Located in leading edge membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in brain (RPKM 18.3), colon (RPKM 17.1) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ARHGAP44 in Genome Data Viewer
    Location:
    17p12
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (12789498..12991643)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (12696985..12899110)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (12692815..12894960)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 670 Neighboring gene uncharacterized LOC105371540 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:12533784-12534983 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:12540895-12541394 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:12591458-12591958 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:12591959-12592459 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_46971 Neighboring gene MYOCD antisense RNA 1 Neighboring gene myocardin Neighboring gene ARHGAP44 and MYOCD antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11737 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11738 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11739 Neighboring gene microRNA 1269b Neighboring gene Sharpr-MPRA regulatory region 8598 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:12920660-12921160 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8207 Neighboring gene elaC ribonuclease Z 2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:12999283-13000482 Neighboring gene VISTA enhancer hs1497 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:13044042-13044662 Neighboring gene uncharacterized LOC124904097 Neighboring gene long intergenic non-protein coding RNA 2093

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. RICH2, a potential tumor suppressor in hepatocellular carcinoma. Zhang J, et al. Front Biosci (Landmark Ed), 2019 Jun 1. PMID 31136984
    2. RICH2 is implicated in viraemic control of HIV-1 in black South African individuals. Paximadis M, et al. Infect Genet Evol, 2017 Apr. PMID 28069446, Free PMC Article
    3. Screening low-frequency SNPS from genome-wide association study reveals a new risk allele for progression to AIDS. Le Clerc S, et al. J Acquir Immune Defic Syndr, 2011 Mar 1. PMID 21107268, Free PMC Article
    4. CD317 mediates immunocytolysis resistance by RICH2/cytoskeleton-dependent membrane protection. Cheng J, et al. Mol Immunol, 2021 Jan. PMID 33223223
    5. Mutant p53 promotes cell spreading and migration via ARHGAP44. Xu J, et al. Sci China Life Sci, 2017 Sep. PMID 28527113

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ARHGAP44-mediated regulation of the p53/C-myc/Cyclin D1 pathway in modulating the malignant biological behavior of osteosarcoma cells.
      Title: ARHGAP44-mediated regulation of the p53/C-myc/Cyclin D1 pathway in modulating the malignant biological behavior of osteosarcoma cells.
    2. RICH2 decreases the mitochondrial number and affects mitochondrial localization in diffuse low-grade glioma-related epilepsy.
      Title: RICH2 decreases the mitochondrial number and affects mitochondrial localization in diffuse low-grade glioma-related epilepsy.
    3. CD317 mediates immunocytolysis resistance by RICH2/cytoskeleton-dependent membrane protection.
      Title: CD317 mediates immunocytolysis resistance by RICH2/cytoskeleton-dependent membrane protection.
    4. Rho GTPase-activating protein RICH2 (RICH2) is downregulated in hepatocellular carcinoma (HCC).
      Title: RICH2, a potential tumor suppressor in hepatocellular carcinoma.
    5. Rho GTPase activating protein 44 (ARHGAP44) expression is lower in lung carcinoma compared with normal tissues. The GTP hydrolysis activity on cell division cycle 42 (Cdc42) and the expression level of ARHGAP44 are negatively correlated with cell migration and invasion.
      Title: Mutant p53 promotes cell spreading and migration via ARHGAP44.
    6. RICH2 is implicated in viremic control of HIV-1 in black South African individuals.
      Title: RICH2 is implicated in viraemic control of HIV-1 in black South African individuals.
    7. Besides the already known chromosome 6 associations, the analysis of low-frequency single nucleotide polymorphisms brought up a new association in the RICH2 gene for progression to AIDS.
      Title: Screening low-frequency SNPS from genome-wide association study reveals a new risk allele for progression to AIDS.
    8. Knocking down expression of RICH 2 causes loss of the apical actin network and apical microvilli, an increase in actin bundles at the basal surface, and a reduction in cell height. (RICH 2 protein)
      Title: A CD317/tetherin-RICH2 complex plays a critical role in the organization of the subapical actin cytoskeleton in polarized epithelial cells.
    9. Demonstrates that the RhoGAP domains of RICH-1 and RICH-2 can catalyze GTP hydrolysis of both Rac1 and Cdc42, but not of RhoA.
      Title: Rich, a rho GTPase-activating protein domain-containing protein involved in signaling by Cdc42 and Rac1.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
    EBI GWAS Catalog
    The genetic architecture of economic and political preferences.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0672

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables GTPase activator activity TAS
    Traceable Author Statement
    more info
    		  
    enables phospholipid binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in exocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in modification of dendritic spine IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in modulation of chemical synaptic transmission 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 filopodium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in neurotransmitter receptor transport, endosome to postsynaptic membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of GTPase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of dendritic spine morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of neurotransmitter receptor transport, endosome to postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
    		  
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in dendritic spine IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in intracellular anatomical structure IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in leading edge membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in leading edge membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in postsynaptic density IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in presynaptic active zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in recycling endosome IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    rho GTPase-activating protein 44
    Names
    Rho-type GTPase-activating protein RICH2
    RhoGAP interacting with CIP4 homologs protein 2
    rho GTPase-activating protein RICH2

    NCBI Reference Sequences (RefSeq)

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    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_001321164.2 → NP_001308093.1  rho GTPase-activating protein 44 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC005274, AL080100, BC143855, BC143856, BM993036, DB461035, HY144351
      UniProtKB/TrEMBL
      A0A2X0U4K4
      Conserved Domains (3) summary
      cd07619
      Location:13 → 260
      BAR_Rich2; The Bin/Amphiphysin/Rvs (BAR) domain of RhoGAP interacting with CIP4 homologs protein 2
      pfam15304
      Location:553 → 653
      AKAP2_C; A-kinase anchor protein 2 C-terminus
      cl02570
      Location:249 → 449
      RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...

    2. NM_001321166.2 → NP_001308095.1  rho GTPase-activating protein 44 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC005274, AL080100, BC143853, BM993036, DB461035, HY144351
      Consensus CDS
      CCDS82077.1
      UniProtKB/TrEMBL
      A0A2X0U4K4
      Related
      ENSP00000342566.3, ENST00000340825.7
      Conserved Domains (3) summary
      cd07619
      Location:13 → 260
      BAR_Rich2; The Bin/Amphiphysin/Rvs (BAR) domain of RhoGAP interacting with CIP4 homologs protein 2
      pfam15304
      Location:553 → 653
      AKAP2_C; A-kinase anchor protein 2 C-terminus
      cl02570
      Location:249 → 449
      RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...

    3. NM_001321167.2 → NP_001308096.1  rho GTPase-activating protein 44 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC005274, AL080100, BC143852, BM993036, DB461035, HY144351
      Consensus CDS
      CCDS82076.1
      UniProtKB/TrEMBL
      A0A2X0U4K4, E7ERK8
      Related
      ENSP00000262444.9, ENST00000262444.13
      Conserved Domains (3) summary
      cd07619
      Location:13 → 260
      BAR_Rich2; The Bin/Amphiphysin/Rvs (BAR) domain of RhoGAP interacting with CIP4 homologs protein 2
      pfam15304
      Location:559 → 659
      AKAP2_C; A-kinase anchor protein 2 C-terminus
      cl02570
      Location:249 → 449
      RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...

    4. NM_001321168.2 → NP_001308097.1  rho GTPase-activating protein 44 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC005274, AL080100, BC070074, BC143853, BM993036, DB461035, HY144351
      UniProtKB/Swiss-Prot
      Q17R89
      UniProtKB/TrEMBL
      Q69Z00
      Conserved Domains (3) summary
      cd04386
      Location:49 → 249
      RhoGAP_nadrin; RhoGAP_nadrin: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of Nadrin-like proteins. Nadrin, also named Rich-1, has been shown to be involved in the regulation of Ca2+-dependent exocytosis in neurons and recently has been ...
      pfam15304
      Location:353 → 453
      AKAP2_C; A-kinase anchor protein 2 C-terminus
      cl12013
      Location:1 → 60
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    5. NM_014859.6 → NP_055674.4  rho GTPase-activating protein 44 isoform 1

      See identical proteins and their annotated locations for NP_055674.4

      Status: VALIDATED

      Source sequence(s)
      AC005274, AL080100, BC117416, BM993036, DA403021, DB461035
      Consensus CDS
      CCDS45616.1
      UniProtKB/Swiss-Prot
      A6NCP5, A8MQB2, O75160, Q17R89, Q7Z5Z7, Q9Y4Q4
      UniProtKB/TrEMBL
      A0A2X0U4K4
      Related
      ENSP00000368994.5, ENST00000379672.10
      Conserved Domains (3) summary
      cd07619
      Location:13 → 260
      BAR_Rich2; The Bin/Amphiphysin/Rvs (BAR) domain of RhoGAP interacting with CIP4 homologs protein 2
      cl02570
      Location:249 → 449
      RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...
      cl25751
      Location:558 → 674
      DUF4045; Domain of unknown function (DUF4045)

    RNA

    1. NR_135569.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005274, AL080100, BC143855, BM993036, DB461035, HY144351
      Related
      ENST00000580768.5

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      12789498..12991643
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047437221.1 → XP_047293177.1  rho GTPase-activating protein 44 isoform X2

      UniProtKB/TrEMBL
      A0A2X0U4K4

    2. XM_005256891.3 → XP_005256948.1  rho GTPase-activating protein 44 isoform X1

      UniProtKB/TrEMBL
      A0A2X0U4K4
      Related
      ENSP00000437542.2, ENST00000544416.6
      Conserved Domains (2) summary
      cl02570
      Location:249 → 449
      RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...
      cl12013
      Location:13 → 260
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    3. XM_047437223.1 → XP_047293179.1  rho GTPase-activating protein 44 isoform X4

      UniProtKB/TrEMBL
      F5H6L3

    4. XM_047437222.1 → XP_047293178.1  rho GTPase-activating protein 44 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      12696985..12899110
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318088.1 → XP_054174063.1  rho GTPase-activating protein 44 isoform X2

      UniProtKB/TrEMBL
      A0A2X0U4K4

    2. XM_054318087.1 → XP_054174062.1  rho GTPase-activating protein 44 isoform X1

      UniProtKB/TrEMBL
      A0A2X0U4K4

    3. XM_054318090.1 → XP_054174065.1  rho GTPase-activating protein 44 isoform X4

      UniProtKB/TrEMBL
      F5H6L3

    4. XM_054318086.1 → XP_054174061.1  rho GTPase-activating protein 44 isoform X5

      UniProtKB/TrEMBL
      A0A2X0U4K4, E7ERK8

    5. XM_054318089.1 → XP_054174064.1  rho GTPase-activating protein 44 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q17R89.1 GenPept UniProtKB/Swiss-Prot:Q17R89

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