FAHD1 (fumarylacetoacetate hydrolase domain containing 1)

2014-11-01  

Identity

HGNC
FAHD1
LOCATION
16p13.3
LOCUSID
81889
ALIAS
C16orf36,YISKL
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 81889
MIM: 616320
HGNC: 14169
Ensembl: ENSG00000180185

Variants:

dbSNP: 81889
ClinVar: 81889
TCGA: ENSG00000180185
COSMIC: FAHD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000180185ENST00000382666Q6P587
ENSG00000180185ENST00000382668Q6P587
ENSG00000180185ENST00000427358Q6P587
ENSG00000180185ENST00000615972Q6P587

Expression (GTEx)

0
5
10
15
20
25
30
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
Tyrosine metabolismKEGGko00350
Tyrosine metabolismKEGGhsa00350
Metabolic pathwaysKEGGhsa01100

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
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
218786182011Identification of human fumarylacetoacetate hydrolase domain-containing protein 1 (FAHD1) as a novel mitochondrial acylpyruvase.7
255755902015Identification of FAH domain-containing protein 1 (FAHD1) as oxaloacetate decarboxylase.7
262669332015FAH domain containing protein 1 (FAHD-1) is required for mitochondrial function and locomotion activity in C. elegans.4
282861702017Depletion of oxaloacetate decarboxylase FAHD1 inhibits mitochondrial electron transport and induces cellular senescence in human endothelial cells.3
300551892019Oxaloacetate decarboxylase FAHD1 - a new regulator of mitochondrial function and senescence.3
303486412018Structural basis for the bi-functionality of human oxaloacetate decarboxylase FAHD1.3

Citation

Dessen P

FAHD1 (fumarylacetoacetate hydrolase domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62976/fahd1