MOCS1
Molybdenum Cofactor Synthesis 1
Gene Information Card
| Symbol | MOCS1 |
|---|---|
| Full Name | Molybdenum Cofactor Synthesis 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.2 |
| NCBI Gene ID | 4337 ncbi.nlm.nih.gov/gene/4337 |
| Ensembl ID | ENSG00000124615 |
| UniProt ID | Q9NZB8 |
| OMIM ID | 603707 |
| HGNC ID | 7189 |
| Aliases | MOCS1A, MOCS1B, MOCOD, MOCS1A/B |
Description
The MOCS1 gene encodes a bifunctional enzyme that catalyzes the first two steps of molybdenum cofactor (Moco) biosynthesis: conversion of GTP to cyclic pyranopterin monophosphate (cPMP). Moco is essential for the activity of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase. Mutations in MOCS1 cause molybdenum cofactor deficiency type A, a severe autosomal recessive disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Molybdenum cofactor deficiency type A | Loss-of-function mutations in MOCS1 impair cPMP synthesis, leading to deficiency of all molybdoenzymes | OMIM #252150; ClinVar pathogenic variants |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 8.7 | Medium |
| Brain | 5.1 | Low |
| Heart | 4.2 | Low |
| Lung | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.6 | Hepatocellular carcinoma cell line |
| HEK293 | 9.2 | Embryonic kidney cells |
| SH-SY5Y | 6.4 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.721C>T (p.Arg241*) | Nonsense | Rare | Loss of function; premature stop codon |
| c.377G>A (p.Arg126Gln) | Missense | Rare | Loss of function; reduced enzyme activity |
| c.1066C>T (p.Arg356Trp) | Missense | Rare | Loss of function; impaired cPMP synthesis |
Mutation functional classification
Loss of Function (LOF)
Most MOCS1 mutations are loss-of-function, leading to molybdenum cofactor deficiency type A.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Molybdenum cofactor biosynthesis (KEGG: map00460)
• Metabolic pathways (KEGG: map01100)
Protein Summary
The MOCS1 protein is a bifunctional enzyme (MOCS1A and MOCS1B domains) that converts GTP to cyclic pyranopterin monophosphate (cPMP), the first intermediate in molybdenum cofactor biosynthesis. It is localized in the cytoplasm and is critical for the function of all molybdoenzymes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MOCS1 Knockout HEK293 Cell Line | EDJ-KQ5231 | Human | 4337 | Details Get a Quote |
| MOCS1 Knockout A-549 Cell Line | EDJ-KQ28255 | Human | 4337 | Details Get a Quote |
| MOCS1 Knockout HCT 116 Cell Line | EDJ-KQ28256 | Human | 4337 | Details Get a Quote |
| MOCS1 Knockout HeLa Cell Line | EDJ-KQ53894 | Human | 4337 | Details Get a Quote |
