MOCS1 (molybdenum cofactor synthesis 1)

2014-11-01  

Identity

HGNC
LOCATION
6p21.2
LOCUSID
ALIAS
MIG11,MOCOD,MOCS1A,MOCS1B

Other Information

Locus ID:

NCBI: 4337
MIM: 603707
HGNC: 7190
Ensembl: ENSG00000124615

Variants:

dbSNP: 4337
ClinVar: 4337
TCGA: ENSG00000124615
COSMIC: MOCS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000124615ENST00000340692Q9NZB8
ENSG00000124615ENST00000373181Q9NZB8
ENSG00000124615ENST00000373188Q9NZB8
ENSG00000124615ENST00000373188A0A024RD17
ENSG00000124615ENST00000373195Q9NZB8
ENSG00000124615ENST00000487924F8WCK1

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Folate biosynthesisKEGGko00790
Folate biosynthesisKEGGhsa00790
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Molybdenum cofactor biosynthesisREACTOMER-HSA-947581

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
383893472024New Neuroimaging Findings in Patients with Molybdenum Cofactor Deficiency Type A: A Case Report and Literature Review.0
383893472024New Neuroimaging Findings in Patients with Molybdenum Cofactor Deficiency Type A: A Case Report and Literature Review.0
319963722020Alternative splicing of the bicistronic gene molybdenum cofactor synthesis 1 (MOCS1) uncovers a novel mitochondrial protein maturation mechanism.6
319963722020Alternative splicing of the bicistronic gene molybdenum cofactor synthesis 1 (MOCS1) uncovers a novel mitochondrial protein maturation mechanism.6
314777432019ETHE1 and MOCS1 deficiencies: Disruption of mitochondrial bioenergetics, dynamics, redox homeostasis and endoplasmic reticulum-mitochondria crosstalk in patient fibroblasts.14
314777432019ETHE1 and MOCS1 deficiencies: Disruption of mitochondrial bioenergetics, dynamics, redox homeostasis and endoplasmic reticulum-mitochondria crosstalk in patient fibroblasts.14
293682242018A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation.8
293682242018A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation.8
170650692006A Turkish case with molybdenum cofactor deficiency.0
170650692006A Turkish case with molybdenum cofactor deficiency.0
151809822004Characterization of MOCS1A, an oxygen-sensitive iron-sulfur protein involved in human molybdenum cofactor biosynthesis.61
151809822004Characterization of MOCS1A, an oxygen-sensitive iron-sulfur protein involved in human molybdenum cofactor biosynthesis.61
127547012003Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.31
127547012003Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.31

Citation

Dessen P

MOCS1 (molybdenum cofactor synthesis 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70361/mocs1-(molybdenum-cofactor-synthesis-1)