FAHD1 (fumarylacetoacetate hydrolase domain containing 1)

2014-11-01  

Identity

HGNC
LOCATION
16p13.3
LOCUSID
ALIAS
C16orf36,YISKL
FUSION GENES

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

Pathways

PathwaySourceExternal ID
Tyrosine metabolismKEGGko00350
Tyrosine metabolismKEGGhsa00350
Metabolic pathwaysKEGGhsa01100

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
386494392024Mitochondrial enzyme FAHD1 reduces ROS in osteosarcoma.0
386494392024Mitochondrial enzyme FAHD1 reduces ROS in osteosarcoma.0
320687902020Structural and functional comparison of fumarylacetoacetate domain containing protein 1 in human and mouse.2
320687902020Structural and functional comparison of fumarylacetoacetate domain containing protein 1 in human and mouse.2
300551892019Oxaloacetate decarboxylase FAHD1 - a new regulator of mitochondrial function and senescence.14
300551892019Oxaloacetate decarboxylase FAHD1 - a new regulator of mitochondrial function and senescence.14
303486412018Structural basis for the bi-functionality of human oxaloacetate decarboxylase FAHD1.9
303486412018Structural basis for the bi-functionality of human oxaloacetate decarboxylase FAHD1.9
282861702017Depletion of oxaloacetate decarboxylase FAHD1 inhibits mitochondrial electron transport and induces cellular senescence in human endothelial cells.17
282861702017Depletion of oxaloacetate decarboxylase FAHD1 inhibits mitochondrial electron transport and induces cellular senescence in human endothelial cells.17
255755902015Identification of FAH domain-containing protein 1 (FAHD1) as oxaloacetate decarboxylase.22
262669332015FAH domain containing protein 1 (FAHD-1) is required for mitochondrial function and locomotion activity in C. elegans.10
255755902015Identification of FAH domain-containing protein 1 (FAHD1) as oxaloacetate decarboxylase.22
262669332015FAH domain containing protein 1 (FAHD-1) is required for mitochondrial function and locomotion activity in C. elegans.10
218786182011Identification of human fumarylacetoacetate hydrolase domain-containing protein 1 (FAHD1) as a novel mitochondrial acylpyruvase.22

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-(fumarylacetoacetate-hydrolase-domain-containing-1)