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Protein

Molybdopterin synthase catalytic subunit

Gene

MOCS2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Catalytic subunit of the molybdopterin synthase complex, a complex that catalyzes the conversion of precursor Z into molybdopterin. Acts by mediating the incorporation of 2 sulfur atoms from thiocarboxylated MOCS2A into precursor Z to generate a dithiolene group.2 Publications

Miscellaneous

This protein is produced by a bicistronic gene which also produces the small subunit (MOCS2A) from an overlapping reading frame. Expression of these 2 proteins are related since a mutation that removes the start codon of the small subunit (MOCS2A) also impairs expression of the large subunit (MOCS2B).

Catalytic activityi

Cyclic pyranopterin phosphate + 2 [molybdopterin-synthase sulfur-carrier protein]-Gly-NH-CH2-C(O)SH + H2O = molybdopterin + 2 [molybdopterin-synthase sulfur-carrier protein].2 Publications

Pathwayi: molybdopterin biosynthesis

This protein is involved in the pathway molybdopterin biosynthesis, which is part of Cofactor biosynthesis.
View all proteins of this organism that are known to be involved in the pathway molybdopterin biosynthesis and in Cofactor biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei159Substrate1

GO - Molecular functioni

  • molybdopterin synthase activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionTransferase
Biological processMolybdenum cofactor biosynthesis

Enzyme and pathway databases

BioCyciMetaCyc:HS09033-MONOMER.
BRENDAi2.8.1.12. 2681.
ReactomeiR-HSA-947581. Molybdenum cofactor biosynthesis.
UniPathwayiUPA00344.

Names & Taxonomyi

Protein namesi
Recommended name:
Molybdopterin synthase catalytic subunit (EC:2.8.1.12)
Alternative name(s):
MOCO1-B
Molybdenum cofactor synthesis protein 2 large subunit
Molybdenum cofactor synthesis protein 2B
Short name:
MOCS2B
Molybdopterin-synthase large subunit
Short name:
MPT synthase large subunit
Gene namesi
Name:MOCS2
Synonyms:MCBPE, MOCO1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000164172.18.
HGNCiHGNC:7193. MOCS2.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Molybdenum cofactor deficiency, complementation group B (MOCODB)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive metabolic disorder characterized by neonatal onset of intractable seizures, opisthotonus, and facial dysmorphism associated with hypouricemia and elevated urinary sulfite levels. Affected individuals show severe neurologic damage and often die in early childhood.
See also OMIM:252160
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_012765168E → K in MOCODB. 1 PublicationCorresponds to variant dbSNP:rs121908605Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi4338.
MalaCardsiMOCS2.
MIMi252160. phenotype.
OpenTargetsiENSG00000164172.
PharmGKBiPA30903.

Polymorphism and mutation databases

BioMutaiMOCS2.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001631111 – 188Molybdopterin synthase catalytic subunitAdd BLAST188

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei20PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO96007.
MaxQBiO96007.
PaxDbiO96007.
PeptideAtlasiO96007.
PRIDEiO96007.

PTM databases

iPTMnetiO96007.
PhosphoSitePlusiO96007.

Expressioni

Tissue specificityi

Highest levels are found in heart and skeletal muscle. Lower levels are present in brain, kidney and pancreas. Very low levels are found in lung and peripheral blood leukocytes.1 Publication

Gene expression databases

BgeeiENSG00000164172.
CleanExiHS_MOCS2.
ExpressionAtlasiO96007. baseline and differential.
GenevisibleiO96007. HS.

Organism-specific databases

HPAiHPA037679.
HPA037680.

Interactioni

Subunit structurei

Heterotetramer; composed of 2 small (MOCS2A) and 2 large (MOCS2B) subunits.

Protein-protein interaction databases

BioGridi110481. 5 interactors.
CORUMiO96007.
IntActiO96007. 5 interactors.
STRINGi9606.ENSP00000380157.

Structurei

Secondary structure

1188
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi45 – 52Combined sources8
Helixi56 – 63Combined sources8
Beta strandi70 – 78Combined sources9
Beta strandi80 – 82Combined sources3
Beta strandi85 – 94Combined sources10
Helixi98 – 113Combined sources16
Beta strandi116 – 124Combined sources9
Beta strandi126 – 130Combined sources5
Beta strandi132 – 143Combined sources12
Helixi144 – 161Combined sources18
Beta strandi164 – 170Combined sources7

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4AP8X-ray2.78A/B/C/D38-172[»]
5MPOX-ray2.43C/D27-179[»]
ProteinModelPortaliO96007.
SMRiO96007.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni143 – 144Substrate binding2
Regioni166 – 168Substrate binding3

Sequence similaritiesi

Belongs to the MoaE family. MOCS2B subfamily.

Phylogenomic databases

eggNOGiKOG3307. Eukaryota.
COG0314. LUCA.
GeneTreeiENSGT00510000047669.
HOGENOMiHOG000280991.
InParanoidiO96007.
KOiK03635.
OMAiWKKEMYE.
OrthoDBiEOG091G0CV5.
PhylomeDBiO96007.
TreeFamiTF314334.

Family and domain databases

CDDicd00756. MoaE. 1 hit.
Gene3Di3.90.1170.40. 1 hit.
HAMAPiMF_03052. MOC2B. 1 hit.
InterProiView protein in InterPro
IPR036563. MoaE_sf.
IPR028888. MOCS2B_euk.
IPR003448. Mopterin_biosynth_MoaE.
PfamiView protein in Pfam
PF02391. MoaE. 1 hit.
SUPFAMiSSF54690. SSF54690. 1 hit.

Sequencei

Sequence statusi: Complete.

O96007-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSSLEISSSC FSLETKLPLS PPLVEDSAFE PSRKDMDEVE EKSKDVINFT
60 70 80 90 100
AEKLSVDEVS QLVISPLCGA ISLFVGTTRN NFEGKKVISL EYEAYLPMAE
110 120 130 140 150
NEVRKICSDI RQKWPVKHIA VFHRLGLVPV SEASIIIAVS SAHRAASLEA
160 170 180
VSYAIDTLKA KVPIWKKEIY EESSTWKGNK ECFWASNS
Length:188
Mass (Da):20,944
Last modified:May 1, 1999 - v1
Checksum:iF405256D85621146
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05009150T → A. Corresponds to variant dbSNP:rs2233213Ensembl.1
Natural variantiVAR_05009277T → A. Corresponds to variant dbSNP:rs2233215Ensembl.1
Natural variantiVAR_050093123H → Y. Corresponds to variant dbSNP:rs2233218Ensembl.1
Natural variantiVAR_012765168E → K in MOCODB. 1 PublicationCorresponds to variant dbSNP:rs121908605Ensembl.1
Natural variantiVAR_050094187N → S. Corresponds to variant dbSNP:rs2233221Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF091871 mRNA. Translation: AAD14599.1.
AF117815 mRNA. Translation: AAD13297.1.
AF155659 mRNA. Translation: AAF67478.1.
AK312887 mRNA. Translation: BAG35735.1.
CR457172 mRNA. Translation: CAG33453.1.
CH471123 Genomic DNA. Translation: EAW54874.1.
BC046097 mRNA. Translation: AAH46097.1.
CCDSiCCDS3958.1.
PIRiB59370.
RefSeqiNP_004522.1. NM_004531.4.
UniGeneiHs.163645.
Hs.594335.

Genome annotation databases

EnsembliENST00000396954; ENSP00000380157; ENSG00000164172.
GeneIDi4338.
KEGGihsa:4338.
UCSCiuc003joz.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMOC2B_HUMAN
AccessioniPrimary (citable) accession number: O96007
Secondary accession number(s): Q6IAI3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 11, 2002
Last sequence update: May 1, 1999
Last modified: October 25, 2017
This is version 145 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families