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Aliases for ARHGAP45 Gene

Aliases for ARHGAP45 Gene

  • Rho GTPase Activating Protein 45 2 3 5
  • Histocompatibility (Minor) HA-1 2 3
  • HMHA1 3 4
  • Minor Histocompatibility Antigen HA-1 3
  • Minor Histocompatibility Protein HA-1 3
  • Rho GTPase-Activating Protein 45 3
  • KIAA0223 4
  • HLA-HA1 3
  • HA-1 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 Hematopoietic Stem Cell Transplantation and Acute Graft Versus Host Disease. Among its related pathways are Innate Immune System and Signaling by GPCR. An important paralog of this gene is ARHGAP29.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for ARHGAP45 Gene

Genomics for ARHGAP45 Gene

GeneHancer (GH) Regulatory Elements for ARHGAP45 Gene

Promoters and enhancers for ARHGAP45 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I001064 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 569 +1.2 1235 6 HDGF MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF143 ZNF263 SP3 ARHGAP45 ABCA7 DAZAP1 POLR2E SBNO2 MIER2 MIDN R3HDM4 CIRBP TMEM259
GH19I001074 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 561.8 +10.5 10545 4.5 HDGF PKNOX1 FOXA2 MLX ARNT FEZF1 IRF4 SLC30A9 ZNF766 ZNF207 ARHGAP45 POLR2E ABCA7 PIR52456
GH19I001070 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 556.3 +5.4 5407 1.6 CTCF USF1 SIN3A USF2 ZFHX2 ZNF366 POLR2A MLLT1 ZBTB33 PRDM1 ARHGAP45 POLR2E PIR52456
GH19I001236 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.9 +190.9 190936 41.1 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 CIRBP C19orf24 MIDN CBARP ATP5F1D SF3A2 TCF3 TMEM259 LOC100288123 PTBP1
GH19I000906 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 19.3 -157.4 -157365 4.7 HDGF PKNOX1 SMAD1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZBTB7B ARHGAP45 R3HDM4 MIDN ABCA7 CFD ELANE PRTN3 GZMM DAZAP1 SBNO2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ARHGAP45 on UCSC Golden Path with GeneCards custom track

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)

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.
    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.
    SequenceCaution:
    • Sequence=BAA13212.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    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

No Post-translational modifications

No data available for DME Specific Peptides for ARHGAP45 Gene

Domains & Families for ARHGAP45 Gene

Gene Families for ARHGAP45 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for ARHGAP45 Gene

Suggested Antigen Peptide Sequences for ARHGAP45 Gene

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 TAS --
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

miRNA for ARHGAP45 Gene

miRTarBase miRNAs that target ARHGAP45

Clone Products

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
cytosol 5
extracellular 4
lysosome 4
plasma membrane 3
nucleus 3
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for ARHGAP45 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
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
  • 1-Myristoyl-2-pentadecanoyl-sn-glycerol
  • DAG(14:0/15:0)
  • DAG(29:0)
  • DG(14:0/15:0)
  • DG(29:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonoyl-sn-glycerol
  • DAG(16:1/20:4)
  • DAG(16:1n7/20:4n6)
  • DAG(16:1w7/20:4w6)
  • DAG(36:5)
Diglycerides Group C
  • 1-Pentadecanoyl-3-behenoyl-sn-glycerol
  • 1-Pentadecanoyl-3-docosanoyl-sn-glycerol
  • DAG(15:0/0:0/22:0)
  • DAG(37:0)
  • DG(37:0)
Diglycerides Group D
  • 1,2-Didocosahexaenoyl-rac-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6n3/22:6n3)
  • DAG(22:6w3/22:6w3)
  • DAG(44:12)
genes like me logo Genes that share compounds with ARHGAP45: view

Transcripts for ARHGAP45 Gene

Clone Products

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

No ASD Table

Relevant External Links for ARHGAP45 Gene

GeneLoc Exon Structure for
ARHGAP45
ECgene alternative splicing isoforms for
ARHGAP45

Expression for ARHGAP45 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of ARHGAP45 Gene:

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(4.5)
  • Liver(4.4)
  • Nervous system(4.4)
  • Bone marrow(4.3)
  • Muscle(2.5)
  • Kidney(2.2)
  • Intestine(2.1)
  • Heart(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 33 34
  • 93.3 (n)
dog
(Canis familiaris)
Mammalia HMHA1 33 34
  • 83.17 (n)
cow
(Bos Taurus)
Mammalia HMHA1 33 34
  • 82.36 (n)
mouse
(Mus musculus)
Mammalia Hmha1 34 33
  • 80.26 (n)
OneToOne
Arhgap45 16
rat
(Rattus norvegicus)
Mammalia Hmha1 33
  • 79.9 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HMHA1 34
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HMHA1 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves HMHA1 34 33
  • 74.2 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HMHA1 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hmha1 33
  • 60.16 (n)
Str.11397 33
zebrafish
(Danio rerio)
Actinopterygii hmha1b 33
  • 65.02 (n)
hmha1 34
  • 52 (a)
OneToMany
HMHA1 (1 of 3) 34
  • 52 (a)
OneToMany
HMHA1 (3 of 3) 34
  • 46 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11163 33
worm
(Caenorhabditis elegans)
Secernentea spv-1 34
  • 21 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RGA1 34
  • 15 (a)
ManyToMany
RGA2 34
  • 15 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 43 (a)
OneToMany
Species where no ortholog for ARHGAP45 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

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 from dbSNP and Humsavar for ARHGAP45 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000018092 -- 1,086,523(+) G/A 3_prime_UTR_variant
rs1000043948 -- 1,065,936(+) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1000063154 -- 1,083,786(+) G/A intron_variant
rs1000160944 -- 1,076,274(+) C/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000212991 -- 1,076,127(+) C/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

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

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

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: HGMD, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hematopoietic stem cell transplantation
acute graft versus host disease
  • acute gvhd
graft-versus-host disease
  • graft-versus-host disease, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ARHGAP45

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 22 58
  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 22 58
  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 22 58
  4. Genomic identification of the minor histocompatibility antigen HA-1 locus by allele-specific PCR. (PMID: 9820596) Wilke M … Goulmy E (Tissue antigens 1998) 2 3 22 58
  5. 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 22 58

Products for ARHGAP45 Gene

Sources for ARHGAP45 Gene