MOCS1 (molybdenum cofactor synthesis 1)

2014-11-01  

Identity

HGNC
MOCS1
LOCATION
6p21.2
LOCUSID
4337
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
151809822004Characterization of MOCS1A, an oxygen-sensitive iron-sulfur protein involved in human molybdenum cofactor biosynthesis.44
127547012003Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.21
293682242018A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation.3
170650692006A Turkish case with molybdenum cofactor deficiency.0

Citation

Dessen P

MOCS1 (molybdenum cofactor synthesis 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70361/mocs1