Aliases for ARHGAP45 Gene

Aliases for ARHGAP45 Gene

  • Rho GTPase Activating Protein 45 2 3 5
  • Rho GTPase-Activating Protein 45 3 4
  • Histocompatibility (Minor) HA-1 2 3
  • KIAA0223 2 4
  • HMHA1 3 4
  • HA-1 2 3
  • Minor Histocompatibility Antigen HA-1 3
  • Minor Histocompatibility Protein HA-1 3
  • ARHGAP45 5
  • HLA-HA1 3

External Ids for ARHGAP45 Gene

Previous HGNC Symbols for ARHGAP45 Gene

  • HMHA1

Summaries for ARHGAP45 Gene

GeneCards Summary for ARHGAP45 Gene

ARHGAP45 (Rho GTPase Activating Protein 45) is a Protein Coding gene. Diseases associated with ARHGAP45 include Graft-Versus-Host Disease and Acute Graft Versus Host Disease. Among its related pathways are Signaling by GPCR and Innate Immune System. An important paralog of this gene is ARHGAP29.

UniProtKB/Swiss-Prot Summary for ARHGAP45 Gene

  • Contains a GTPase activator for the Rho-type GTPases (RhoGAP) domain that would be able to negatively regulate the actin cytoskeleton as well as cell spreading. However, also contains N-terminally a BAR-domin which is able to play an autoinhibitory effect on this RhoGAP activity.
  • Precursor of the histocompatibility antigen HA-1. More generally, minor histocompatibility antigens (mHags) refer to immunogenic peptide which, when complexed with MHC, can generate an immune response after recognition by specific T-cells. The peptides are derived from polymorphic intracellular proteins, which are cleaved by normal pathways of antigen processing. The binding of these peptides to MHC class I or class II molecules and its expression on the cell surface can stimulate T-cell responses and thereby trigger graft rejection or graft-versus-host disease (GVHD) after hematopoietic stem cell transplantation from HLA-identical sibling donor. GVHD is a frequent complication after bone marrow transplantation (BMT), due to mismatch of minor histocompatibility antigen in HLA-matched sibling marrow transplants. Specifically, mismatching for mHag HA-1 which is recognized as immunodominant, is shown to be associated with the development of severe GVHD after HLA-identical BMT. HA-1 is presented to the cell surface by MHC class I HLA-A*0201, but also by other HLA-A alleles. This complex specifically elicits donor-cytotoxic T-lymphocyte (CTL) reactivity against hematologic malignancies after treatment by HLA-identical allogenic BMT. It induces cell recognition and lysis by CTL.

Gene Wiki entry for ARHGAP45 Gene

Additional gene information for ARHGAP45 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARHGAP45 Gene

Genomics for ARHGAP45 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ARHGAP45 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARHGAP45 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARHGAP45

Genomic Locations for ARHGAP45 Gene

Genomic Locations for ARHGAP45 Gene
chr19:1,065,923-1,087,831
(GRCh38/hg38)
Size:
21,909 bases
Orientation:
Plus strand
chr19:1,065,922-1,086,627
(GRCh37/hg19)
Size:
20,706 bases
Orientation:
Plus strand

Genomic View for ARHGAP45 Gene

Genes around ARHGAP45 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARHGAP45 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARHGAP45 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGAP45 Gene

Proteins for ARHGAP45 Gene

  • Protein details for ARHGAP45 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92619-HMHA1_HUMAN
    Recommended name:
    Rho GTPase-activating protein 45
    Protein Accession:
    Q92619
    Secondary Accessions:
    • B4DTS4
    • F6QP70
    • Q6P189
    • Q7LE26
    • Q86WS1
    • Q8HX84
    • Q9GJN9
    • Q9GJP0
    • Q9GJP1
    • Q9MY24

    Protein attributes for ARHGAP45 Gene

    Size:
    1136 amino acids
    Molecular mass:
    124614 Da
    Quaternary structure:
    • HA-1 forms a complex with MHC class I HLA-A*0201.
    SequenceCaution:
    • Sequence=BAA13212.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • Infusion of lymphocyte from mHag HA-1-negative donors results in a durable remission in mHag HA-1-positive patients with leukemia or multiple myeloma.

    Three dimensional structures from OCA and Proteopedia for ARHGAP45 Gene

    Alternative splice isoforms for ARHGAP45 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARHGAP45 Gene

Post-translational modifications for ARHGAP45 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ARHGAP45 Gene

Domains & Families for ARHGAP45 Gene

Gene Families for ARHGAP45 Gene

Protein Domains for ARHGAP45 Gene

Suggested Antigen Peptide Sequences for ARHGAP45 Gene

GenScript: Design optimal peptide antigens:
  • Minor histocompatibility protein HA-1 (HMHA1_HUMAN)
  • HMHA1 protein (Q8IYN3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92619

UniProtKB/Swiss-Prot:

HMHA1_HUMAN :
  • Rho-GAP domain is able to regulate RhoGTPase activity, actin cytoskeleton and cell spreading. However N-terminally BAR domain plays an autoinhibitory role.
Domain:
  • Rho-GAP domain is able to regulate RhoGTPase activity, actin cytoskeleton and cell spreading. However N-terminally BAR domain plays an autoinhibitory role.
genes like me logo Genes that share domains with ARHGAP45: view

Function for ARHGAP45 Gene

Molecular function for ARHGAP45 Gene

UniProtKB/Swiss-Prot Function:
Contains a GTPase activator for the Rho-type GTPases (RhoGAP) domain that would be able to negatively regulate the actin cytoskeleton as well as cell spreading. However, also contains N-terminally a BAR-domin which is able to play an autoinhibitory effect on this RhoGAP activity.
UniProtKB/Swiss-Prot Function:
Precursor of the histocompatibility antigen HA-1. More generally, minor histocompatibility antigens (mHags) refer to immunogenic peptide which, when complexed with MHC, can generate an immune response after recognition by specific T-cells. The peptides are derived from polymorphic intracellular proteins, which are cleaved by normal pathways of antigen processing. The binding of these peptides to MHC class I or class II molecules and its expression on the cell surface can stimulate T-cell responses and thereby trigger graft rejection or graft-versus-host disease (GVHD) after hematopoietic stem cell transplantation from HLA-identical sibling donor. GVHD is a frequent complication after bone marrow transplantation (BMT), due to mismatch of minor histocompatibility antigen in HLA-matched sibling marrow transplants. Specifically, mismatching for mHag HA-1 which is recognized as immunodominant, is shown to be associated with the development of severe GVHD after HLA-identical BMT. HA-1 is presented to the cell surface by MHC class I HLA-A*0201, but also by other HLA-A alleles. This complex specifically elicits donor-cytotoxic T-lymphocyte (CTL) reactivity against hematologic malignancies after treatment by HLA-identical allogenic BMT. It induces cell recognition and lysis by CTL.

Phenotypes From GWAS Catalog for ARHGAP45 Gene

Gene Ontology (GO) - Molecular Function for ARHGAP45 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA,IBA 21873635
GO:0005515 protein binding IPI 24086303
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ARHGAP45: view
genes like me logo Genes that share phenotypes with ARHGAP45: view

Animal Model Products

CRISPR Products

miRNA for ARHGAP45 Gene

miRTarBase miRNAs that target ARHGAP45

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARHGAP45

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ARHGAP45 Gene

Localization for ARHGAP45 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARHGAP45 Gene

Cytoplasm. Cell projection, ruffle membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ARHGAP45 gene
Compartment Confidence
extracellular 4
cytosol 4
lysosome 4
plasma membrane 3
nucleus 2
golgi apparatus 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for ARHGAP45 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA,HDA 19946888
genes like me logo Genes that share ontologies with ARHGAP45: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ARHGAP45 Gene

Pathways & Interactions for ARHGAP45 Gene

genes like me logo Genes that share pathways with ARHGAP45: view

Pathways by source for ARHGAP45 Gene

Gene Ontology (GO) - Biological Process for ARHGAP45 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0035556 intracellular signal transduction IEA --
GO:0043312 neutrophil degranulation TAS --
GO:0043547 positive regulation of GTPase activity IEA --
GO:0051056 regulation of small GTPase mediated signal transduction TAS --
genes like me logo Genes that share ontologies with ARHGAP45: view

No data available for SIGNOR curated interactions for ARHGAP45 Gene

Drugs & Compounds for ARHGAP45 Gene

(4) Additional Compounds for ARHGAP45 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group A
  • (2R)-2-Hydroxy-3-(pentadecanoyloxy)propyl (5Z,8Z,11Z)-icosa-5,8,11,14-tetraenoic acid
  • DG(15:0/0:0/20:4n6)
  • Diacylglycerol(15:0/0:0/20:4)
  • DG(35:4)
  • DAG(15:0/0:0/20:4)
Diglycerides Group B
  • 1-Myristoyl-2-eicosadienoyl-sn-glycerol
  • DAG(14:0/20:2)
  • DAG(14:0/20:2N6)
  • DAG(14:0/20:2W6)
  • DAG(34:2)
Diglycerides Group C
  • 1-(9Z-Octadecenoyl)-2-hexadecanoyl-sn-glycerol
  • 1-O-Oleoyl-2-O-palmitoyl-sn-glycerol
  • DG (18:1(9Z)/16:0/0:0)
  • DG(18:1/16:0)
  • Diglyceride
Diglycerides Group D
  • 1,2-Di-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycerol
  • 1,2-Didocosahexaenoyl-sn-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6N3/22:6N3)
  • DAG(22:6OMEGA3/22:6OMEGA3)
genes like me logo Genes that share compounds with ARHGAP45: view

Transcripts for ARHGAP45 Gene

mRNA/cDNA for ARHGAP45 Gene

5 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARHGAP45

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGAP45 Gene

No ASD Table

Relevant External Links for ARHGAP45 Gene

GeneLoc Exon Structure for
ARHGAP45

Expression for ARHGAP45 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARHGAP45

mRNA Expression by UniProt/SwissProt for ARHGAP45 Gene:

Q92619-HMHA1_HUMAN
Tissue specificity: Expressed on cells of the hematopoietic lineage. Detected in dendritic cells and epidermal Langerhans cells. Expressed in peripheral blood mononuclear cells, in all leukemia/lymphoma cell lines. Detected also in some solid tumors and tissues such as cancerous and non-cancerous tissue.

Evidence on tissue expression from TISSUES for ARHGAP45 Gene

  • Blood(4.6)
  • Liver(4.5)
  • Nervous system(4.5)
  • Bone marrow(4.4)
  • Heart(2.6)
  • Kidney(2.5)
  • Muscle(2.5)
  • Spleen(2.1)
  • Intestine(2.1)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with ARHGAP45: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARHGAP45 Gene

Orthologs for ARHGAP45 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ARHGAP45 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HMHA1 30 31
  • 93.3 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HMHA1 30 31
  • 83.17 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HMHA1 30 31
  • 82.36 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Hmha1 30 31
  • 80.26 (n)
OneToOne
Arhgap45 17
Rat
(Rattus norvegicus)
Mammalia Hmha1 30
  • 79.9 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia HMHA1 31
  • 69 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia HMHA1 31
  • 67 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HMHA1 30 31
  • 74.2 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HMHA1 31
  • 64 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hmha1 30
  • 60.16 (n)
Str.11397 30
Zebrafish
(Danio rerio)
Actinopterygii hmha1b 30
  • 65.02 (n)
hmha1 31
  • 52 (a)
OneToMany
HMHA1 (1 of 3) 31
  • 52 (a)
OneToMany
HMHA1 (3 of 3) 31
  • 46 (a)
OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11163 30
Worm
(Caenorhabditis elegans)
Secernentea spv-1 31
  • 21 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RGA1 31
  • 15 (a)
ManyToMany
RGA2 31
  • 15 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 43 (a)
OneToMany
Species where no ortholog for ARHGAP45 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ARHGAP45 Gene

ENSEMBL:
Gene Tree for ARHGAP45 (if available)
TreeFam:
Gene Tree for ARHGAP45 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARHGAP45: view image

Paralogs for ARHGAP45 Gene

Paralogs for ARHGAP45 Gene

genes like me logo Genes that share paralogs with ARHGAP45: view

Variants for ARHGAP45 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGAP45 Gene

HMHA1_HUMAN-Q92619
The HA-1H allele is presented on the cell surface and recognized by CTL, whereas the HA-1R allele is poorly represented by HLA-A and non-immunogenic, although HA-1R allelic frequency is the highest (PubMed:9820595, PubMed:16399573).

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARHGAP45 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
710670 Benign: not provided 1,081,859(+) G/A SYNONYMOUS_VARIANT
710671 Benign: not provided 1,085,846(+) A/AGGACGGGGACGG INFRAME_INSERTION
717572 Benign: not provided 1,085,691(+) G/A SYNONYMOUS_VARIANT
729207 Likely Benign: not provided 1,084,322(+) G/C MISSENSE_VARIANT
734863 Benign: not provided 1,082,836(+) G/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ARHGAP45 Gene

Structural Variations from Database of Genomic Variants (DGV) for ARHGAP45 Gene

Variant ID Type Subtype PubMed ID
dgv135n111 CNV deletion 26073780
dgv136n111 CNV deletion 26073780
esv2758743 CNV gain+loss 17122850
esv3643383 CNV gain 21293372
nsv1058677 CNV loss 25217958
nsv1160555 CNV deletion 26073780
nsv469845 CNV loss 16826518
nsv470102 CNV loss 18288195
nsv470103 CNV gain 18288195
nsv828362 CNV loss 20364138
nsv833704 CNV gain 17160897
nsv953938 CNV deletion 24416366
nsv9662 CNV gain 18304495

Variation tolerance for ARHGAP45 Gene

Residual Variation Intolerance Score: 6.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.60; 82.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARHGAP45 Gene

Human Gene Mutation Database (HGMD)
ARHGAP45
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARHGAP45

Disorders for ARHGAP45 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ARHGAP45 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
graft-versus-host disease
  • graft-versus-host disease, susceptibility to
acute graft versus host disease
  • acute gvhd
hematologic cancer
  • blood cancer
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with ARHGAP45: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ARHGAP45 Gene

Publications for ARHGAP45 Gene

  1. Expression of minor histocompatibility antigen, HA-1, in solid tumor cells. (PMID: 11965046) Fujii N … Harada M (Transplantation 2002) 3 4 23
  2. Genomic organization of the human cholesterol-responsive ABC transporter ABCA7: tandem linkage with the minor histocompatibility antigen HA-1 gene. (PMID: 11095984) Kaminski WE … Schmitz G (Biochemical and biophysical research communications 2000) 3 4 23
  3. Genomic typing of minor histocompatibility antigen HA-1 by reference strand mediated conformation analysis (RSCA). (PMID: 10958358) Aróstegui JI … Grañena A (Tissue antigens 2000) 3 4 23
  4. The minor histocompatibility antigen HA-1: a diallelic gene with a single amino acid polymorphism. (PMID: 9461441) den Haan JM … Goulmy E (Science (New York, N.Y.) 1998) 3 4 23
  5. Genomic identification of the minor histocompatibility antigen HA-1 loc