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
366318132023Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.2
366318132023Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.2
350454142022A Homozygous Missense Variant in Hedgehog Acyltransferase (HHAT) Gene Associated with 46,XY Gonadal Dysgenesis.0
360300532022Hedgehog acyltransferase catalyzes a random sequential reaction and utilizes multiple fatty acyl-CoA substrates.2
350454142022A Homozygous Missense Variant in Hedgehog Acyltransferase (HHAT) Gene Associated with 46,XY Gonadal Dysgenesis.0
360300532022Hedgehog acyltransferase catalyzes a random sequential reaction and utilizes multiple fatty acyl-CoA substrates.2
337499892021Hedgehog acyl-transferase-related multiple congenital anomalies: Report of an additional family and delineation of the syndrome.1
341126942021Substrate and product complexes reveal mechanisms of Hedgehog acylation by HHAT.25
348905642021Structure, mechanism, and inhibition of Hedgehog acyltransferase.21
337499892021Hedgehog acyl-transferase-related multiple congenital anomalies: Report of an additional family and delineation of the syndrome.1
341126942021Substrate and product complexes reveal mechanisms of Hedgehog acylation by HHAT.25
348905642021Structure, mechanism, and inhibition of Hedgehog acyltransferase.21
309123002019Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar-vermis hypoplasia.8
311770962019Acyltransferase skinny hedgehog regulates TGFβ-dependent fibroblast activation in SSc.6
309123002019Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar-vermis hypoplasia.8

Citation

Dessen P

HHAT (hedgehog acyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/41301/hhat-(hedgehog-acyltransferase)