UniProtKB - Q96EN8 (MOCOS_HUMAN)
Protein
Molybdenum cofactor sulfurase
Gene
MOCOS
Organism
Homo sapiens (Human)
Status
Functioni
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.UniRule annotation1 Publication
Catalytic activityi
- EC:2.8.1.9UniRule annotation
Cofactori
pyridoxal 5'-phosphateUniRule annotation
Kineticsi
- KM=15 µM for benzamidoxime1 Publication
- Vmax=0.24 nmol/min/mg enzyme1 Publication
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 424 | UniRule annotation | 1 |
GO - Molecular functioni
- lyase activity Source: UniProtKB-UniRule
- molybdenum cofactor sulfurtransferase activity Source: UniProtKB-EC
- molybdenum ion binding Source: UniProtKB-UniRule
- Mo-molybdopterin cofactor sulfurase activity Source: UniProtKB
- pyridoxal phosphate binding Source: UniProtKB-UniRule
GO - Biological processi
- molybdopterin cofactor biosynthetic process Source: Reactome
- molybdopterin cofactor metabolic process Source: UniProtKB
- Mo-molybdopterin cofactor biosynthetic process Source: UniProtKB-UniRule
Keywordsi
Molecular function | Transferase |
Biological process | Molybdenum cofactor biosynthesis |
Ligand | Pyridoxal phosphate |
Enzyme and pathway databases
PathwayCommonsi | Q96EN8 |
Reactomei | R-HSA-947581, Molybdenum cofactor biosynthesis |
Names & Taxonomyi
Protein namesi | Recommended name: Molybdenum cofactor sulfuraseUniRule annotation (EC:2.8.1.9UniRule annotation)Short name: MCSUniRule annotation Short name: MOSUniRule annotation Short name: MoCo sulfuraseUniRule annotation Short name: hMCS Alternative name(s): Molybdenum cofactor sulfurtransferaseUniRule annotation |
Gene namesi | Name:MOCOSUniRule annotation |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:18234, MOCOS |
MIMi | 613274, gene |
neXtProti | NX_Q96EN8 |
VEuPathDBi | HostDB:ENSG00000075643.5 |
Pathology & Biotechi
Involvement in diseasei
Xanthinuria 2 (XAN2)4 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder 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, XAN2 patients cannot metabolize allopurinol into oxypurinol due to dual deficiency of xanthine dehydrogenase and aldehyde oxidase.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_027528 | 57 | A → P in XAN2. 1 PublicationCorresponds to variant dbSNP:rs886037854EnsemblClinVar. | 1 | |
Natural variantiVAR_027533 | 294 | T → I in XAN2. 1 PublicationCorresponds to variant dbSNP:rs577279030Ensembl. | 1 | |
Natural variantiVAR_045899 | 776 | R → C in XAN2. 1 PublicationCorresponds to variant dbSNP:rs750896617EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 55034 |
MalaCardsi | MOCOS |
MIMi | 603592, phenotype |
OpenTargetsi | ENSG00000075643 |
Orphaneti | 93602, Xanthinuria type II |
PharmGKBi | PA134964534 |
Miscellaneous databases
Pharosi | Q96EN8, Tbio |
Chemistry databases
DrugBanki | DB00114, Pyridoxal phosphate |
Genetic variation databases
BioMutai | MOCOS |
DMDMi | 296438294 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000249952 | 1 – 888 | Molybdenum cofactor sulfuraseAdd BLAST | 888 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 34 | PhosphoserineCombined sources | 1 | |
Modified residuei | 264 | N6-(pyridoxal phosphate)lysineUniRule annotation | 1 | |
Modified residuei | 528 | PhosphoserineCombined sources | 1 | |
Modified residuei | 530 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
CPTACi | CPTAC-979 |
EPDi | Q96EN8 |
jPOSTi | Q96EN8 |
MassIVEi | Q96EN8 |
MaxQBi | Q96EN8 |
PaxDbi | Q96EN8 |
PeptideAtlasi | Q96EN8 |
PRIDEi | Q96EN8 |
ProteomicsDBi | 76426 |
PTM databases
iPTMneti | Q96EN8 |
PhosphoSitePlusi | Q96EN8 |
Expressioni
Gene expression databases
Bgeei | ENSG00000075643, Expressed in right lobe of liver and 147 other tissues |
Genevisiblei | Q96EN8, HS |
Organism-specific databases
HPAi | ENSG00000075643, Tissue enhanced (intestine, liver) |
Interactioni
Binary interactionsi
Hide detailsProtein-protein interaction databases
BioGRIDi | 120363, 29 interactors |
IntActi | Q96EN8, 26 interactors |
MINTi | Q96EN8 |
STRINGi | 9606.ENSP00000261326 |
Miscellaneous databases
RNActi | Q96EN8, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 706 – 867 | MOSCUniRule annotationAdd BLAST | 162 |
Sequence similaritiesi
Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family. MOCOS subfamily.UniRule annotation
Phylogenomic databases
eggNOGi | KOG2142, Eukaryota |
GeneTreei | ENSGT00940000157051 |
HOGENOMi | CLU_010913_0_1_1 |
InParanoidi | Q96EN8 |
OMAi | EWCLVHQ |
OrthoDBi | 394559at2759 |
PhylomeDBi | Q96EN8 |
TreeFami | TF105761 |
Family and domain databases
Gene3Di | 3.40.640.10, 1 hit 3.90.1150.10, 1 hit |
HAMAPi | MF_03050, MOCOS, 1 hit |
InterProi | View protein in InterPro IPR000192, Aminotrans_V_dom IPR005302, MoCF_Sase_C IPR028886, MoCo_sulfurase IPR005303, MOSC_N IPR015424, PyrdxlP-dep_Trfase IPR015422, PyrdxlP-dep_Trfase_dom1 IPR015421, PyrdxlP-dep_Trfase_major IPR011037, Pyrv_Knase-like_insert_dom_sf |
Pfami | View protein in Pfam PF00266, Aminotran_5, 1 hit PF03473, MOSC, 1 hit PF03476, MOSC_N, 1 hit |
SUPFAMi | SSF50800, SSF50800, 1 hit SSF53383, SSF53383, 1 hit |
PROSITEi | View protein in PROSITE PS51340, MOSC, 1 hit |
i Sequence
Sequence statusi: Complete.
Q96EN8-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MAGAAAESGR ELWTFAGSRD PSAPRLAYGY GPGSLRELRA REFSRLAGTV
60 70 80 90 100
YLDHAGATLF SQSQLESFTS DLMENTYGNP HSQNISSKLT HDTVEQVRYR
110 120 130 140 150
ILAHFHTTAE DYTVIFTAGS TAALKLVAEA FPWVSQGPES SGSRFCYLTD
160 170 180 190 200
SHTSVVGMRN VTMAINVIST PVRPEDLWSA EERSASASNP DCQLPHLFCY
210 220 230 240 250
PAQSNFSGVR YPLSWIEEVK SGRLHPVSTP GKWFVLLDAA SYVSTSPLDL
260 270 280 290 300
SAHQADFVPI SFYKIFGFPT GLGALLVHNR AAPLLRKTYF GGGTASAYLA
310 320 330 340 350
GEDFYIPRQS VAQRFEDGTI SFLDVIALKH GFDTLERLTG GMENIKQHTF
360 370 380 390 400
TLAQYTYVAL SSLQYPNGAP VVRIYSDSEF SSPEVQGPII NFNVLDDKGN
410 420 430 440 450
IIGYSQVDKM ASLYNIHLRT GCFCNTGACQ RHLGISNEMV RKHFQAGHVC
460 470 480 490 500
GDNMDLIDGQ PTGSVRISFG YMSTLDDVQA FLRFIIDTRL HSSGDWPVPQ
510 520 530 540 550
AHADTGETGA PSADSQADVI PAVMGRRSLS PQEDALTGSR VWNNSSTVNA
560 570 580 590 600
VPVAPPVCDV ARTQPTPSEK AAGVLEGALG PHVVTNLYLY PIKSCAAFEV
610 620 630 640 650
TRWPVGNQGL LYDRSWMVVN HNGVCLSQKQ EPRLCLIQPF IDLRQRIMVI
660 670 680 690 700
KAKGMEPIEV PLEENSERTQ IRQSRVCADR VSTYDCGEKI SSWLSTFFGR
710 720 730 740 750
PCHLIKQSSN SQRNAKKKHG KDQLPGTMAT LSLVNEAQYL LINTSSILEL
760 770 780 790 800
HRQLNTSDEN GKEELFSLKD LSLRFRANII INGKRAFEEE KWDEISIGSL
810 820 830 840 850
RFQVLGPCHR CQMICIDQQT GQRNQHVFQK LSESRETKVN FGMYLMHASL
860 870 880
DLSSPCFLSV GSQVLPVLKE NVEGHDLPAS EKHQDVTS
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 119 | G → E in BAD96606 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 689 | K → E in BAD96606 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_027528 | 57 | A → P in XAN2. 1 PublicationCorresponds to variant dbSNP:rs886037854EnsemblClinVar. | 1 | |
Natural variantiVAR_027529 | 120 | S → N. Corresponds to variant dbSNP:rs3744900Ensembl. | 1 | |
Natural variantiVAR_027530 | 170 | T → I2 PublicationsCorresponds to variant dbSNP:rs623053Ensembl. | 1 | |
Natural variantiVAR_027531 | 184 | S → G3 PublicationsCorresponds to variant dbSNP:rs540967Ensembl. | 1 | |
Natural variantiVAR_027532 | 225 | H → R4 PublicationsCorresponds to variant dbSNP:rs623558Ensembl. | 1 | |
Natural variantiVAR_027533 | 294 | T → I in XAN2. 1 PublicationCorresponds to variant dbSNP:rs577279030Ensembl. | 1 | |
Natural variantiVAR_027534 | 358 | V → M3 PublicationsCorresponds to variant dbSNP:rs678560Ensembl. | 1 | |
Natural variantiVAR_027535 | 495 | D → N. Corresponds to variant dbSNP:rs8088347Ensembl. | 1 | |
Natural variantiVAR_027536 | 541 | V → L. Corresponds to variant dbSNP:rs672924Ensembl. | 1 | |
Natural variantiVAR_027537 | 703 | H → N2 PublicationsCorresponds to variant dbSNP:rs594445Ensembl. | 1 | |
Natural variantiVAR_045899 | 776 | R → C in XAN2. 1 PublicationCorresponds to variant dbSNP:rs750896617EnsemblClinVar. | 1 | |
Natural variantiVAR_027538 | 867 | V → A. Corresponds to variant dbSNP:rs1057251Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK000740 mRNA Translation: BAA91353.1 AK222886 mRNA Translation: BAD96606.1 AC023043 Genomic DNA No translation available. BC012079 mRNA Translation: AAH12079.1 AL834481 mRNA Translation: CAD39140.1 |
CCDSi | CCDS11919.1 |
PIRi | JC7680 |
RefSeqi | NP_060417.2, NM_017947.2 |
Genome annotation databases
Ensembli | ENST00000261326; ENSP00000261326; ENSG00000075643 |
GeneIDi | 55034 |
KEGGi | hsa:55034 |
UCSCi | uc002kzq.5, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK000740 mRNA Translation: BAA91353.1 AK222886 mRNA Translation: BAD96606.1 AC023043 Genomic DNA No translation available. BC012079 mRNA Translation: AAH12079.1 AL834481 mRNA Translation: CAD39140.1 |
CCDSi | CCDS11919.1 |
PIRi | JC7680 |
RefSeqi | NP_060417.2, NM_017947.2 |
3D structure databases
SMRi | Q96EN8 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 120363, 29 interactors |
IntActi | Q96EN8, 26 interactors |
MINTi | Q96EN8 |
STRINGi | 9606.ENSP00000261326 |
Chemistry databases
DrugBanki | DB00114, Pyridoxal phosphate |
PTM databases
iPTMneti | Q96EN8 |
PhosphoSitePlusi | Q96EN8 |
Genetic variation databases
BioMutai | MOCOS |
DMDMi | 296438294 |
Proteomic databases
CPTACi | CPTAC-979 |
EPDi | Q96EN8 |
jPOSTi | Q96EN8 |
MassIVEi | Q96EN8 |
MaxQBi | Q96EN8 |
PaxDbi | Q96EN8 |
PeptideAtlasi | Q96EN8 |
PRIDEi | Q96EN8 |
ProteomicsDBi | 76426 |
Protocols and materials databases
Antibodypediai | 41960, 48 antibodies |
DNASUi | 55034 |
Genome annotation databases
Ensembli | ENST00000261326; ENSP00000261326; ENSG00000075643 |
GeneIDi | 55034 |
KEGGi | hsa:55034 |
UCSCi | uc002kzq.5, human |
Organism-specific databases
CTDi | 55034 |
DisGeNETi | 55034 |
GeneCardsi | MOCOS |
HGNCi | HGNC:18234, MOCOS |
HPAi | ENSG00000075643, Tissue enhanced (intestine, liver) |
MalaCardsi | MOCOS |
MIMi | 603592, phenotype 613274, gene |
neXtProti | NX_Q96EN8 |
OpenTargetsi | ENSG00000075643 |
Orphaneti | 93602, Xanthinuria type II |
PharmGKBi | PA134964534 |
VEuPathDBi | HostDB:ENSG00000075643.5 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2142, Eukaryota |
GeneTreei | ENSGT00940000157051 |
HOGENOMi | CLU_010913_0_1_1 |
InParanoidi | Q96EN8 |
OMAi | EWCLVHQ |
OrthoDBi | 394559at2759 |
PhylomeDBi | Q96EN8 |
TreeFami | TF105761 |
Enzyme and pathway databases
PathwayCommonsi | Q96EN8 |
Reactomei | R-HSA-947581, Molybdenum cofactor biosynthesis |
Miscellaneous databases
BioGRID-ORCSi | 55034, 5 hits in 993 CRISPR screens |
ChiTaRSi | MOCOS, human |
GeneWikii | MOCOS |
GenomeRNAii | 55034 |
Pharosi | Q96EN8, Tbio |
PROi | PR:Q96EN8 |
RNActi | Q96EN8, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000075643, Expressed in right lobe of liver and 147 other tissues |
Genevisiblei | Q96EN8, HS |
Family and domain databases
Gene3Di | 3.40.640.10, 1 hit 3.90.1150.10, 1 hit |
HAMAPi | MF_03050, MOCOS, 1 hit |
InterProi | View protein in InterPro IPR000192, Aminotrans_V_dom IPR005302, MoCF_Sase_C IPR028886, MoCo_sulfurase IPR005303, MOSC_N IPR015424, PyrdxlP-dep_Trfase IPR015422, PyrdxlP-dep_Trfase_dom1 IPR015421, PyrdxlP-dep_Trfase_major IPR011037, Pyrv_Knase-like_insert_dom_sf |
Pfami | View protein in Pfam PF00266, Aminotran_5, 1 hit PF03473, MOSC, 1 hit PF03476, MOSC_N, 1 hit |
SUPFAMi | SSF50800, SSF50800, 1 hit SSF53383, SSF53383, 1 hit |
PROSITEi | View protein in PROSITE PS51340, MOSC, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MOCOS_HUMAN | |
Accessioni | Q96EN8Primary (citable) accession number: Q96EN8 Secondary accession number(s): Q53GP5, Q8N3A4, Q9NWM7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 19, 2006 |
Last sequence update: | May 18, 2010 | |
Last modified: | April 7, 2021 | |
This is version 158 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 18
Human chromosome 18: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families