MOCOS

Protein identityUniProt · HPA

UniProt accession

Q96EN8

Gene

MOCOS

Ensembl

ENSG00000075643

Chromosome

18

Canonical length

888 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins

Subcellular location

Mitochondria,Cytosol

OverviewNCBI Gene

This gene encodes an enzyme that sulfurates the molybdenum cofactor which is required for activation of the xanthine dehydrogenase (XDH) and aldehyde oxidase (AO) enzymes. XDH catalyzes the conversion of hypoxanthine to uric acid via xanthine, as well as the conversion of allopurinol to oxypurinol, and pyrazinamide to 5-hydroxy pyrazinamide. Mutations in this gene cause the metabolic disorder classical xanthinuria type II which is characterized by the loss of XDH/XO and AO enzyme activity, decreased levels of uric acid in the urine, increased levels of xanthine and hypoxanthine in the serum and urine, formation of xanthine stones in the urinary tract, and myositis due to tissue deposition of xanthine. [provided by RefSeq, Apr 2017]

Canonical amino-acid sequenceUniProt

888 residues, UniProt reviewed canonical sequence.

>Q96EN8|MOCOS
     1  MAGAAAESGR ELWTFAGSRD PSAPRLAYGY GPGSLRELRA REFSRLAGTV YLDHAGATLF
    61  SQSQLESFTS DLMENTYGNP HSQNISSKLT HDTVEQVRYR ILAHFHTTAE DYTVIFTAGS
   121  TAALKLVAEA FPWVSQGPES SGSRFCYLTD SHTSVVGMRN VTMAINVIST PVRPEDLWSA
   181  EERSASASNP DCQLPHLFCY PAQSNFSGVR YPLSWIEEVK SGRLHPVSTP GKWFVLLDAA
   241  SYVSTSPLDL SAHQADFVPI SFYKIFGFPT GLGALLVHNR AAPLLRKTYF GGGTASAYLA
   301  GEDFYIPRQS VAQRFEDGTI SFLDVIALKH GFDTLERLTG GMENIKQHTF TLAQYTYVAL
   361  SSLQYPNGAP VVRIYSDSEF SSPEVQGPII NFNVLDDKGN IIGYSQVDKM ASLYNIHLRT
   421  GCFCNTGACQ RHLGISNEMV RKHFQAGHVC GDNMDLIDGQ PTGSVRISFG YMSTLDDVQA
   481  FLRFIIDTRL HSSGDWPVPQ AHADTGETGA PSADSQADVI PAVMGRRSLS PQEDALTGSR
   541  VWNNSSTVNA VPVAPPVCDV ARTQPTPSEK AAGVLEGALG PHVVTNLYLY PIKSCAAFEV
   601  TRWPVGNQGL LYDRSWMVVN HNGVCLSQKQ EPRLCLIQPF IDLRQRIMVI KAKGMEPIEV
   661  PLEENSERTQ IRQSRVCADR VSTYDCGEKI SSWLSTFFGR PCHLIKQSSN SQRNAKKKHG
   721  KDQLPGTMAT LSLVNEAQYL LINTSSILEL HRQLNTSDEN GKEELFSLKD LSLRFRANII
   781  INGKRAFEEE KWDEISIGSL RFQVLGPCHR CQMICIDQQT GQRNQHVFQK LSESRETKVN
   841  FGMYLMHASL DLSSPCFLSV GSQVLPVLKE NVEGHDLPAS EKHQDVTS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MOCOS 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)

0.31

Highest tissue expression

15 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MOCOS.

Disease | AllUniProt

Conditions MOCOS is implicated in, by any mechanism.

• Xanthinuria 2 (XAN2) MIM:603592

Disease | GeneticClinVar

41 pathogenic / likely-pathogenic of 536 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Xanthinuria type II
• MOCOS-related disorder
• Autism spectrum disorder

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)

1.15

gnomAD pLI

0

gnomAD missense Z

-0.45

DepMap mean gene effect

0.05

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• Mo-molybdopterin cofactor biosynthetic process
• molybdopterin cofactor biosynthetic process
• molybdopterin cofactor metabolic process

Molecular functions

• lyase activity
• molybdenum ion binding
• pyridoxal phosphate binding
• molybdenum cofactor sulfurtransferase activity

Cellular components

• cytosol

Protein domainsUniProt · Pfam · InterPro

• Aminotransferase class V domain
• Molybdenum cofactor sulfurase, C-terminal
• Molybdenum cofactor sulfurase, middle domain
• Pyruvate kinase-like, insert domain superfamily
• Pyridoxal phosphate-dependent transferase, major domain
• Pyridoxal phosphate-dependent transferase
• Aminotransferase class-V
• MOSC domain
• MOSC N-terminal beta barrel domain
• Molybdenum cofactor sulfurase

KeywordsUniProt

• Molybdenum cofactor biosynthesis
• Phosphoprotein
• Pyridoxal phosphate
• Transferase

InteractionsUniProt · HPA

Protein binding partners of MOCOS in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ARL8A
• PARVA