AMDHD1 (amidohydrolase domain containing 1)

2014-11-01  

Identity

HGNC
LOCATION
12q23.1
LOCUSID
ALIAS
HMFT1272
FUSION GENES

Other Information

Locus ID:

NCBI: 144193
HGNC: 28577
Ensembl: ENSG00000139344

Variants:

dbSNP: 144193
ClinVar: 144193
TCGA: ENSG00000139344
COSMIC: AMDHD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000139344ENST00000266736Q96NU7
ENSG00000139344ENST00000548310H0YI62

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Histidine metabolismKEGGko00340
Histidine metabolismKEGGhsa00340
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Histidine catabolismREACTOMER-HSA-70921
Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolismREACTOMER-HSA-6788656

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
293437642018Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels.198
293437642018Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels.198
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78

Citation

Dessen P

AMDHD1 (amidohydrolase domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60269/css/lib/js/teaching-explorer/