ARHGAP45 (Rho GTPase activating protein 45)

2016-06-01  

Identity

HGNC
ARHGAP45
LOCATION
19p13.3
LOCUSID
23526
ALIAS
HA-1,HLA-HA1,HMHA1

Other Information

Locus ID:

NCBI: 23526
MIM: 601155
HGNC: 17102
Ensembl: ENSG00000180448

Variants:

dbSNP: 23526
ClinVar: 23526
TCGA: ENSG00000180448
COSMIC: ARHGAP45

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000180448ENST00000313093Q92619
ENSG00000180448ENST00000543365F5H1R4
ENSG00000180448ENST00000586866K7ES98
ENSG00000180448ENST00000587186K7EQA4
ENSG00000180448ENST00000587602K7EM55
ENSG00000180448ENST00000590214K7EM85
ENSG00000180448ENST00000590577K7ES92
ENSG00000180448ENST00000591169A0A087X1A3

Expression (GTEx)

0
50
100
150
200
250
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Signal TransductionREACTOMER-HSA-162582
Signaling by Rho GTPasesREACTOMER-HSA-194315
Rho GTPase cycleREACTOMER-HSA-194840
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 2
adipose tissue
skin 1
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
154988562005Cord blood comprises antigen-experienced T cells specific for maternal minor histocompatibility antigen HA-1.19
192341242009Secondary anchor polymorphism in the HA-1 minor histocompatibility antigen critically affects MHC stability and TCR recognition.15
169842832006Role of non-HLA genetic polymorphisms in graft-versus-host disease after haematopoietic stem cell transplantation.14
240863032013The human minor histocompatibility antigen 1 is a RhoGAP.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
120913472002Generation of minor histocompatibility antigen HA-1-specific cytotoxic T cells restricted by nonself HLA molecules: a potential strategy to treat relapsed leukemia after HLA-mismatched stem cell transplantation.8
184149822008Aberrant expression of BCL2A1-restricted minor histocompatibility antigens in melanoma cells: application for allogeneic transplantation.7
119202212000HLA class I-minor histocompatibility antigen tetramers select cytotoxic T cells with high avidity to the natural ligand.3
155932992005Homozygosity for the 168His variant of the minor histocompatibility antigen HA-1 is associated with reduced risk of primary Sjögren's syndrome.3

Citation

Dessen P

ARHGAP45 (Rho GTPase activating protein 45)

Atlas Genet Cytogenet Oncol Haematol. 2016-06-01

Online version: http://atlasgeneticsoncology.org/gene/55800/arhgap45