MOCS1
Molybdenum cofactor biosynthesis protein 1
Also known as: MOCOD, MOCS1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NZB8
- Gene
- MOCS1
- Ensembl
- ENSG00000124615
- Chromosome
- 6
- Canonical length
- 636 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Cytosol
OverviewNCBI Gene
Molybdenum cofactor biosynthesis is a conserved pathway leading to the biological activation of molybdenum. The protein encoded by this gene is involved in this pathway. This gene was originally thought to produce a bicistronic mRNA with the potential to produce two proteins (MOCS1A and MOCS1B) from adjacent open reading frames. However, only the first open reading frame (MOCS1A) has been found to encode a protein from the putative bicistronic mRNA, whereas additional splice variants are likely to produce a fusion between the two open reading frames. This gene is defective in patients with molybdenum cofactor deficiency, type A. A related pseudogene has been identified on chromosome 16. [provided by RefSeq, Nov 2017]
Canonical amino-acid sequenceUniProt
636 residues, UniProt reviewed canonical sequence.
>Q9NZB8|MOCS1
1 MAARPLSRML RRLLRSSARS CSSGAPVTQP CPGESARAAS EEVSRRRQFL REHAAPFSAF
61 LTDSFGRQHS YLRISLTEKC NLRCQYCMPE EGVPLTPKAN LLTTEEILTL ARLFVKEGID
121 KIRLTGGEPL IRPDVVDIVA QLQRLEGLRT IGVTTNGINL ARLLPQLQKA GLSAINISLD
181 TLVPAKFEFI VRRKGFHKVM EGIHKAIELG YNPVKVNCVV MRGLNEDELL DFAALTEGLP
241 LDVRFIEYMP FDGNKWNFKK MVSYKEMLDT VRQQWPELEK VPEEESSTAK AFKIPGFQGQ
301 ISFITSMSEH FCGTCNRLRI TADGNLKVCL FGNSEVSLRD HLRAGASEQE LLRIIGAAVG
361 RKKRQHAGMF SISQMKNRPM ILIELFLMFP NSPPANPSIF SWDPLHVQGL RPRMSFSSQV
421 ATLWKGCRVP QTPPLAQQRL GSGSFQRHYT SRADSDANSK CLSPGSWASA APSGPQLTSE
481 QLTHVDSEGR AAMVDVGRKP DTERVAVASA VVLLGPVAFK LVQQNQLKKG DALVVAQLAG
541 VQAAKVTSQL IPLCHHVALS HIQVQLELDS TRHAVKIQAS CRARGPTGVE MEALTSAAVA
601 ALTLYDMCKA VSRDIVLEEI KLISKTGGQR GDFHRALocalizationUniProt · AlphaFold · HPA
Whether an antibody against MOCS1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.35
- Highest tissue expression
- 42 nTPM
Expression across tissuesHPA
Tissue
- liver: 42 nTPM
- tongue: 42 nTPM
- adipose tissue: 41 nTPM
- breast: 35 nTPM
- placenta: 33 nTPM
- blood vessel: 31 nTPM
Single-cell type
- pericytes: 93 nCPM
- adipocytes: 92 nCPM
- hepatocytes: 49 nCPM
- cytotrophoblasts: 46 nCPM
- epicardial cells: 43 nCPM
- vascular smooth muscle cells: 38 nCPM
Immune cell
- naive CD4 T-cell: 0.6 nTPM
- naive CD8 T-cell: 0.5 nTPM
- NK-cell: 0.4 nTPM
- gdT-cell: 0.3 nTPM
- total PBMC: 0.2 nTPM
- memory CD4 T-cell: 0.1 nTPM
Brain region
- midbrain: 26 nTPM
- basal ganglia: 24 nTPM
- thalamus: 24 nTPM
- medulla oblongata: 23 nTPM
- cerebellum: 22 nTPM
- white matter: 21 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about MOCS1.
Disease | AllUniProt
Conditions MOCS1 is implicated in, by any mechanism.
- Molybdenum cofactor deficiency A (MOCODA) MIM:252150
Disease | GeneticClinVar
89 pathogenic / likely-pathogenic of 815 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.08
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.62
- DepMap mean gene effect
- -0.03
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- 4 iron, 4 sulfur cluster binding
- GTP binding
- metal ion binding
- S-adenosyl-L-methionine binding
- cyclic pyranopterin monophosphate synthase activity
- GTP 3',8'-cyclase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Elp3/MiaA/NifB-like, radical SAM core domain
- Radical SAM
- Aldolase-type TIM barrel
- Radical SAM superfamily
- Radical SAM superfamily
- MoaA/NifB/PqqE, iron-sulphur binding, conserved site
- Molybdopterin cofactor biosynthesis C (MoaC) domain
- Molybdenum cofactor biosynthesis protein A-like, twitch domain
- Molybdenum cofactor biosynthesis protein A
- Molybdenum cofactor biosynthesis C
- Molybdopterin cofactor biosynthesis C (MoaC) domain superfamily
- Molybdenum cofactor biosynthesis protein A-like
- Molybdenum cofactor biosynthesis C, bacteria/eukaryotes
- Molybdenum cofactor biosynthesis MoaA/MoaC
- MoaC family
- Molybdenum Cofactor Synthesis C
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MOCS1 as an antibody target. Whether an autoantibody or antibody against MOCS1 could matter depends on whether native MOCS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MOCS1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label MOCS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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