CARNS1 (carnosine synthase 1)

2014-11-01  

Identity

HGNC
LOCATION
11q13.2
LOCUSID
ALIAS
ATPGD1
FUSION GENES

Other Information

Locus ID:

NCBI: 57571
MIM: 613368
HGNC: 29268
Ensembl: ENSG00000172508

Variants:

dbSNP: 57571
ClinVar: 57571
TCGA: ENSG00000172508
COSMIC: CARNS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000172508ENST00000307823A5YM72
ENSG00000172508ENST00000445895A5YM72
ENSG00000172508ENST00000531040A5YM72

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450

Pathways

PathwaySourceExternal ID
Arginine and proline metabolismKEGGko00330
Histidine metabolismKEGGko00340
beta-Alanine metabolismKEGGko00410
Arginine and proline metabolismKEGGhsa00330
Histidine metabolismKEGGhsa00340
beta-Alanine metabolismKEGGhsa00410
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
200977522010Molecular identification of carnosine synthase as ATP-grasp domain-containing protein 1 (ATPGD1).36
262067262015Intrinsic carnosine metabolism in the human kidney.11

Citation

Dessen P

CARNS1 (carnosine synthase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61422/carns1