ADSS1 (adenylosuccinate synthase 1)

2014-11-01  

Identity

HGNC
LOCATION
14q32.33
LOCUSID
ALIAS
ADSSL1,MPD5

Other Information

Locus ID:

NCBI: 122622
MIM: 612498
HGNC: 20093
Ensembl: ENSG00000185100

Variants:

dbSNP: 122622
ClinVar: 122622
TCGA: ENSG00000185100
COSMIC: ADSS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185100ENST00000330877Q8N142
ENSG00000185100ENST00000332972Q8N142
ENSG00000185100ENST00000553540G3V2N1
ENSG00000185100ENST00000555674G3V232
ENSG00000185100ENST00000556623G3V5D8

Pathways

PathwaySourceExternal ID
Purine metabolismKEGGko00230
Purine metabolismKEGGhsa00230
Alanine, aspartate and glutamate metabolismKEGGko00250
Alanine, aspartate and glutamate metabolismKEGGhsa00250
Metabolic pathwaysKEGGhsa01100
Adenine ribonucleotide biosynthesis, IMP => ADP,ATPKEGGM00049
Adenine ribonucleotide biosynthesis, IMP => ADP,ATPKEGGhsa_M00049
MetabolismREACTOMER-HSA-1430728
Metabolism of nucleotidesREACTOMER-HSA-15869
Purine metabolismREACTOMER-HSA-73847
Purine ribonucleoside monophosphate biosynthesisREACTOMER-HSA-73817

References

Pubmed IDYearTitleCitations
157867192005Molecular cloning and characterization of a novel muscle adenylosuccinate synthetase, AdSSL1, from human bone marrow stromal cells.6
265062222016ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy.3
282680512017Distal myopathy with ADSSL1 mutations in Korean patients.1

Citation

Dessen P

ADSS1 (adenylosuccinate synthase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60176/adss1