HHAT (hedgehog acyltransferase)

2003-12-01  

Identity

HGNC
HHAT
LOCATION
1q32.2
LOCUSID
55733
ALIAS
MART2,NNMS,SKI1,Skn
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55733
MIM: 605743
HGNC: 18270
Ensembl: ENSG00000054392

Variants:

dbSNP: 55733
ClinVar: 55733
TCGA: ENSG00000054392
COSMIC: HHAT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000054392ENST00000261458Q5VTY9
ENSG00000054392ENST00000367009B1AK61
ENSG00000054392ENST00000367010Q5VTY9
ENSG00000054392ENST00000413764Q5VTY9
ENSG00000054392ENST00000426968A0A075B6R5
ENSG00000054392ENST00000537898Q5VTY9
ENSG00000054392ENST00000541565Q5VTY9
ENSG00000054392ENST00000545154Q5VTY9
ENSG00000054392ENST00000545781F5H2Y1

Expression (GTEx)

0
1
2
3
4
5
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
Signal TransductionREACTOMER-HSA-162582
Signaling by HedgehogREACTOMER-HSA-5358351
Hedgehog ligand biogenesisREACTOMER-HSA-5358346

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
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
227331342013The hedgehog processing pathway is required for NSCLC growth and survival.23
231120492012Identification of N-terminal residues of Sonic Hedgehog important for palmitoylation by Hedgehog acyltransferase.19
254886612015Membrane topology of hedgehog acyltransferase.16
258896502015Hedgehog Acyltransferase as a target in estrogen receptor positive, HER2 amplified, and tamoxifen resistant breast cancer cells.14
226266362012SKI-1/S1P inhibition: a promising surrogate to statins to block hepatitis C virus replication.13
247848812014Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling.13
258499252015Membrane bound O-acyltransferases and their inhibitors.9
263346092015Click chemistry armed enzyme-linked immunosorbent assay to measure palmitoylation by hedgehog acyltransferase.7
231429682013Whole-genome-wide association study in the Bulgarian population reveals HHAT as schizophrenia susceptibility gene.4

Citation

Dessen P

HHAT (hedgehog acyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/41301/hhat