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    ARHGAP45 Rho GTPase activating protein 45 [ Homo sapiens (human) ]

    Gene ID: 23526, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ARHGAP45provided by HGNC
    Official Full Name
    Rho GTPase activating protein 45provided by HGNC
    Primary source
    HGNC:HGNC:17102
    See related
    Ensembl:ENSG00000180448 MIM:601155; AllianceGenome:HGNC:17102
    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
    HA-1; HMHA1; HLA-HA1
    Summary
    Predicted to enable GTPase activator activity. Predicted to be involved in regulation of small GTPase mediated signal transduction. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in spleen (RPKM 23.6), bone marrow (RPKM 17.0) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ARHGAP45 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (1065959..1086628)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (1030624..1051294)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (1065958..1086627)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9652 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:1028384-1028559 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1038259-1038760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1038761-1039260 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1041153-1041950 Neighboring gene calponin 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9654 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9655 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:1051115-1051279 Neighboring gene MPRA-validated peak3219 silencer Neighboring gene ATP binding cassette subfamily A member 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1056183-1056682 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1061566-1062329 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1063170-1064022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9656 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1066609-1067115 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9658 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9659 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13580 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9660 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9661 Neighboring gene Sharpr-MPRA regulatory region 10458 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13581 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9662 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1081390-1082265 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50734 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1085889-1086388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13582 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1094025-1094560 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13583 Neighboring gene RNA polymerase II, I and III subunit E Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13585 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:1100293-1100430 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1101543-1102077 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13586 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13587 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13588 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9664 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9665 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1106419-1107295 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1110839-1111758 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1111759-1112678 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1112679-1113598 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1116907-1117420 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1117421-1117933 Neighboring gene glutathione peroxidase 4 Neighboring gene strawberry notch homolog 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1122338-1122841 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1131030-1131694 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1133023-1133686 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1133705-1134206 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1134207-1134706 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1147791-1148629 Neighboring gene uncharacterized LOC102723798

    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 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. Quantification of the HA-1 gene product at the RNA level; relevance for immunotherapy of hematological malignancies. Wilke M, et al. Hematol J, 2003. PMID 14502255
    2. Trophoblast expression of the minor histocompatibility antigen HA-1 is regulated by oxygen and is increased in placentas from preeclamptic women. Linscheid C, et al. Placenta, 2015 Aug. PMID 26095815, Free PMC Article
    3. Hypoxia- and Postirradiation reoxygenation-induced HMHA1/ARHGAP45 expression contributes to cancer cell invasion in a HIF-dependent manner. Lee PWT, et al. Br J Cancer, 2024 Jul. PMID 38740970, Free PMC Article
    4. Secondary anchor polymorphism in the HA-1 minor histocompatibility antigen critically affects MHC stability and TCR recognition. Nicholls S, et al. Proc Natl Acad Sci U S A, 2009 Mar 10. PMID 19234124, Free PMC Article
    5. Multiple pro-tumorigenic functions of the human minor Histocompatibility Antigen-1 (HA-1) in melanoma progression. Xu P, et al. J Dermatol Sci, 2017 Nov. PMID 28939173

    See all (51) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Hypoxia- and Postirradiation reoxygenation-induced HMHA1/ARHGAP45 expression contributes to cancer cell invasion in a HIF-dependent manner.
      Title: Hypoxia- and Postirradiation reoxygenation-induced HMHA1/ARHGAP45 expression contributes to cancer cell invasion in a HIF-dependent manner.
    2. ArhGAP45 acts as a Rac-GAP contributing to the balance between formation and disruption of endothelial junctions, which is required for the dynamic regulation of vascular permeability.
      Title: The minor histocompatibility antigen 1 (HMHA1)/ArhGAP45 is a RacGAP and a novel regulator of endothelial integrity.
    3. HMHA1 significantly promotes melanoma cells proliferation, invasion and migration, and prevents cell apoptosis.
      Title: Multiple pro-tumorigenic functions of the human minor Histocompatibility Antigen-1 (HA-1) in melanoma progression.
    4. Placental HA-1 expression is regulated by oxygen and is increased in the syncytial nuclear aggregates and syncytiotrophoblast of preeclamptic as compared to control placentas.
      Title: Trophoblast expression of the minor histocompatibility antigen HA-1 is regulated by oxygen and is increased in placentas from preeclamptic women.
    5. study shows that HMHA1 acts as a RhoGAP to regulate GTPase activity, cytoskeletal remodeling and cell spreading, which are crucial functions in normal hematopoietic and cancer cells
      Title: The human minor histocompatibility antigen 1 is a RhoGAP.
    6. the information on allele and genotype frequencies of HA-1 and HA-2 in a Taiwanese population
      Title: Minor histocompatibility antigen HA-1 and HA-2 polymorphisms in Taiwan: frequency and application in hematopoietic stem cell transplantation.
    7. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    8. study examined antigenic presentation & T-cell recognition of HA-1, a prototypic autosomal mHag derived from single nucleotide dimorphism (HA-1(H) versus HA-1(R)) in the HMHA1 gene; results define the molecular mechanisms governing immunogenicity of HA-1
      Title: Secondary anchor polymorphism in the HA-1 minor histocompatibility antigen critically affects MHC stability and TCR recognition.
    9. targeting mHags encoded not only by HMHA1, whose aberrant expression in solid tumors has been reported, but also BCL2A1 may bring about beneficial selective graft-versus-tumor effects
      Title: Aberrant expression of BCL2A1-restricted minor histocompatibility antigens in melanoma cells: application for allogeneic transplantation.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    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
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog
    Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0223

    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 TAS
    Traceable Author Statement
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of small GTPase mediated signal transduction IBA
    Inferred from Biological aspect of Ancestor
    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 azurophil granule lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane HDA PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in ruffle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in secretory granule lumen TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    rho GTPase-activating protein 45
    Names
    histocompatibility (minor) HA-1
    minor histocompatibility antigen HA-1
    minor histocompatibility protein HA-1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001258328.4 → NP_001245257.1  rho GTPase-activating protein 45 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) is longer and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK300341, BC048129, CX871629
      Consensus CDS
      CCDS58637.1
      UniProtKB/TrEMBL
      Q8IYN3
      Related
      ENSP00000439601.1, ENST00000539243.6
      Conserved Domains (3) summary
      smart00109
      Location:718 → 763
      C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
      cl02570
      Location:775 → 985
      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:312 → 546
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    2. NM_001282334.2 → NP_001269263.1  rho GTPase-activating protein 45 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate internal promoter and thus differs in the 5' UTR and 5' coding region compared to variant 1. These differences cause translation initiation at an alternate AUG, and the resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC004151, AK122776, BC048129, CX871629, DB157802
      Consensus CDS
      CCDS74243.1
      UniProtKB/TrEMBL
      B3KVA9, K7ES92
      Related
      ENSP00000468607.1, ENST00000590577.2
      Conserved Domains (3) summary
      smart00109
      Location:337 → 382
      C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
      cl02570
      Location:394 → 604
      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:31 → 165
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    3. NM_001282335.3 → NP_001269264.1  rho GTPase-activating protein 45 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate internal promoter and thus differs in the 5' UTR and 5' coding region compared to variant 1. These differences cause translation initiation at an alternate AUG, and the resulting isoform (4) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC093066, AK128097, BC048129, BU838153, CN312499, CX871629
      Consensus CDS
      CCDS74242.1
      UniProtKB/TrEMBL
      B3KXW7, F5H1R4
      Related
      ENSP00000438979.1, ENST00000543365.5
      Conserved Domains (3) summary
      smart00109
      Location:585 → 630
      C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
      smart00055
      Location:164 → 239
      FCH; Fes/CIP4 homology domain
      cl02570
      Location:642 → 852
      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_001321232.2 → NP_001308161.1  rho GTPase-activating protein 45 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC004151, BC035564, DB148385
      Consensus CDS
      CCDS82263.1
      UniProtKB/TrEMBL
      K7ES98, Q8IYN3
      Related
      ENSP00000468615.1, ENST00000586866.5
      Conserved Domains (3) summary
      smart00109
      Location:706 → 751
      C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
      smart00055
      Location:285 → 360
      FCH; Fes/CIP4 homology domain
      cl02570
      Location:763 → 973
      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 ...

    5. NM_012292.5 → NP_036424.2  rho GTPase-activating protein 45 isoform 1 precursor

      See identical proteins and their annotated locations for NP_036424.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      CX871629, D86976, DB135747
      Consensus CDS
      CCDS32863.1
      UniProtKB/Swiss-Prot
      B4DTS4, F6QP70, Q6P189, Q7LE26, Q86WS1, Q8HX84, Q92619, Q9GJN9, Q9GJP0, Q9GJP1, Q9MY24
      UniProtKB/TrEMBL
      A0A2X0U2E5
      Related
      ENSP00000316772.2, ENST00000313093.7
      Conserved Domains (3) summary
      smart00109
      Location:702 → 747
      C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
      smart00055
      Location:281 → 356
      FCH; Fes/CIP4 homology domain
      cl02570
      Location:759 → 969
      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 ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      1065959..1086628
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438547.1 → XP_047294503.1  rho GTPase-activating protein 45 isoform X4

      UniProtKB/TrEMBL
      K7ES98

    2. XM_047438546.1 → XP_047294502.1  rho GTPase-activating protein 45 isoform X3

    3. XM_047438548.1 → XP_047294504.1  rho GTPase-activating protein 45 isoform X5

      UniProtKB/Swiss-Prot
      B4DTS4, F6QP70, Q6P189, Q7LE26, Q86WS1, Q8HX84, Q92619, Q9GJN9, Q9GJP0, Q9GJP1, Q9MY24

    4. XM_047438545.1 → XP_047294501.1  rho GTPase-activating protein 45 isoform X1

    5. XM_011527858.1 → XP_011526160.1  rho GTPase-activating protein 45 isoform X2

      UniProtKB/TrEMBL
      Q8IYN3
      Conserved Domains (3) summary
      smart00109
      Location:734 → 779
      C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
      smart00055
      Location:285 → 360
      FCH; Fes/CIP4 homology domain
      cl02570
      Location:791 → 1001
      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 ...

    6. XM_047438549.1 → XP_047294505.1  rho GTPase-activating protein 45 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      1030624..1051294
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320407.1 → XP_054176382.1  rho GTPase-activating protein 45 isoform X4

    2. XM_054320406.1 → XP_054176381.1  rho GTPase-activating protein 45 isoform X3

    3. XM_054320408.1 → XP_054176383.1  rho GTPase-activating protein 45 isoform X5

    4. XM_054320404.1 → XP_054176379.1  rho GTPase-activating protein 45 isoform X1

    5. XM_054320405.1 → XP_054176380.1  rho GTPase-activating protein 45 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92619.2 GenPept UniProtKB/Swiss-Prot:Q92619

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