Human Gene MOCOS (ENST00000261326.6) from GENCODE V44
  Description: Homo sapiens molybdenum cofactor sulfurase (MOCOS), mRNA. (from RefSeq NM_017947)
RefSeq Summary (NM_017947): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Gencode Transcript: ENST00000261326.6
Gencode Gene: ENSG00000075643.6
Transcript (Including UTRs)
   Position: hg38 chr18:36,187,497-36,272,157 Size: 84,661 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg38 chr18:36,187,540-36,268,685 Size: 81,146 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:36,187,497-36,272,157)mRNA (may differ from genome)Protein (888 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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HGNCHPRDLynxMalacardsMGImyGene2
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MOCOS_HUMAN
DESCRIPTION: RecName: Full=Molybdenum cofactor sulfurase; Short=MCS; Short=MOS; Short=MoCo sulfurase; Short=hMCS; EC=2.8.1.9;
FUNCTION: Sulfurates the molybdenum cofactor. Sulfation of molybdenum is essential for xanthine dehydrogenase (XDH) and aldehyde oxidase (ADO) enzymes in which molybdenum cofactor is liganded by 1 oxygen and 1 sulfur atom in active form. In vitro, the C-terminal domain is able to reduce N-hydroxylated prodrugs, such as benzamidoxime.
CATALYTIC ACTIVITY: Molybdenum cofactor + L-cysteine + 2 H(+) = thio-molybdenum cofactor + L-alanine + H(2)O.
COFACTOR: Pyridoxal phosphate (By similarity).
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=15 uM for benzamidoxime; Vmax=0.24 nmol/min/mg enzyme;
DISEASE: Defects in MOCOS are the cause of xanthinuria type 2 (XU2) [MIM:603592]. Xanthinuria is characterized by excretion of very large amounts of xanthine in the urine and a tendency to form xanthine stones. Uric acid is strikingly diminished in serum and urine. In addition, patient suffering of XU2 cannot metabolize allopurinol into oxypurinol due to dual deficiency of xanthine dehydrogenase and aldehyde oxidase.
SIMILARITY: Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family. MOCOS subfamily.
SIMILARITY: Contains 1 MOSC domain.

-  Primer design for this transcript
 

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-  MalaCards Disease Associations
  MalaCards Gene Search: MOCOS
Diseases sorted by gene-association score: xanthinuria, type ii* (1690), xanthinuria* (324), purine-pyrimidine metabolic disorder (10)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.45 RPKM in Adrenal Gland
Total median expression: 55.99 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -21.8043-0.507 Picture PostScript Text
3' UTR -1241.303472-0.358 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000192 - Aminotrans_V/Cys_dSase
IPR005302 - MoCF_Sase_C
IPR005303 - MOSC_N
IPR015424 - PyrdxlP-dep_Trfase_major_dom
IPR015421 - PyrdxlP-dep_Trfase_major_sub1
IPR011037 - Pyrv_Knase-like_insert_dom

Pfam Domains:
PF00266 - Aminotransferase class-V
PF03473 - MOSC domain
PF03476 - MOSC N-terminal beta barrel domain

ModBase Predicted Comparative 3D Structure on Q96EN8
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologGenome BrowserGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGI  EnsemblWormBase 
Protein SequenceProtein Sequence Protein SequenceProtein Sequence 
AlignmentAlignment AlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0005515 protein binding
GO:0008265 Mo-molybdopterin cofactor sulfurase activity
GO:0016740 transferase activity
GO:0030151 molybdenum ion binding
GO:0030170 pyridoxal phosphate binding

Biological Process:
GO:0006777 Mo-molybdopterin cofactor biosynthetic process
GO:0032324 molybdopterin cofactor biosynthetic process
GO:0043545 molybdopterin cofactor metabolic process

Cellular Component:
GO:0005575 cellular_component
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK000740 - Homo sapiens cDNA FLJ20733 fis, clone HEP08550.
BC012079 - Homo sapiens molybdenum cofactor sulfurase, mRNA (cDNA clone MGC:19980 IMAGE:4550285), complete cds.
AK222886 - Homo sapiens mRNA for molybdenum cofactor sulfurase variant, clone: HEP19329.
DQ895841 - Synthetic construct Homo sapiens clone IMAGE:100010301; FLH188171.01L; RZPDo839H03149D molybdenum cofactor sulfurase (MOCOS) gene, encodes complete protein.
EU176372 - Synthetic construct Homo sapiens clone IMAGE:100006474; FLH188175.01X; RZPDo839H03150D molybdenum cofactor sulfurase (MOCOS) gene, encodes complete protein.
KJ899066 - Synthetic construct Homo sapiens clone ccsbBroadEn_08460 MOCOS gene, encodes complete protein.
AL834481 - Homo sapiens mRNA; cDNA DKFZp762N1711 (from clone DKFZp762N1711).
JD164645 - Sequence 145669 from Patent EP1572962.
JD367734 - Sequence 348758 from Patent EP1572962.
JD500225 - Sequence 481249 from Patent EP1572962.
BC027349 - Homo sapiens, clone IMAGE:3923185, mRNA.
JD272129 - Sequence 253153 from Patent EP1572962.
JD074350 - Sequence 55374 from Patent EP1572962.
JD048489 - Sequence 29513 from Patent EP1572962.
JD563829 - Sequence 544853 from Patent EP1572962.
JD324539 - Sequence 305563 from Patent EP1572962.
JD378381 - Sequence 359405 from Patent EP1572962.
JD492365 - Sequence 473389 from Patent EP1572962.
JD102040 - Sequence 83064 from Patent EP1572962.
JD432468 - Sequence 413492 from Patent EP1572962.
JD464993 - Sequence 446017 from Patent EP1572962.
JD257058 - Sequence 238082 from Patent EP1572962.
JD514963 - Sequence 495987 from Patent EP1572962.
JD472511 - Sequence 453535 from Patent EP1572962.
JD199524 - Sequence 180548 from Patent EP1572962.
JD179176 - Sequence 160200 from Patent EP1572962.
JD071920 - Sequence 52944 from Patent EP1572962.
JD277012 - Sequence 258036 from Patent EP1572962.
JD173832 - Sequence 154856 from Patent EP1572962.
JD064475 - Sequence 45499 from Patent EP1572962.
JD457334 - Sequence 438358 from Patent EP1572962.
JD255760 - Sequence 236784 from Patent EP1572962.
JD425900 - Sequence 406924 from Patent EP1572962.
JD091405 - Sequence 72429 from Patent EP1572962.
JD504493 - Sequence 485517 from Patent EP1572962.
JD328910 - Sequence 309934 from Patent EP1572962.
BC015434 - Homo sapiens, clone IMAGE:4414697, mRNA.
JD334580 - Sequence 315604 from Patent EP1572962.
JD063154 - Sequence 44178 from Patent EP1572962.
JD409630 - Sequence 390654 from Patent EP1572962.
JD066433 - Sequence 47457 from Patent EP1572962.
JD300347 - Sequence 281371 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-5963 - thio-molybdenum cofactor biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein Q96EN8 (Reactome details) participates in the following event(s):

R-HSA-947499 Exchange of oxygen with sulfur in MoCo
R-HSA-947581 Molybdenum cofactor biosynthesis
R-HSA-196849 Metabolism of water-soluble vitamins and cofactors
R-HSA-196854 Metabolism of vitamins and cofactors
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000261326.1, ENST00000261326.2, ENST00000261326.3, ENST00000261326.4, ENST00000261326.5, MOCOS_HUMAN, NM_017947, Q53GP5, Q8N3A4, Q96EN8, Q9NWM7, uc002kzq.1, uc002kzq.2, uc002kzq.3, uc002kzq.4, uc002kzq.5, uc002kzq.6
UCSC ID: ENST00000261326.6
RefSeq Accession: NM_017947
Protein: Q96EN8 (aka MOCOS_HUMAN)
CCDS: CCDS11919.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.