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O96007 (MOC2B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 119. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:MOCS2
Synonyms:MCBPE, MOCO1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length188 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.8 Ref.9

Catalytic activity

Cyclic pyranopterin phosphate + 2 [molybdopterin-synthase sulfur-carrier protein]-Gly-NH-CH(2)-C(O)SH + H2O = molybdopterin + 2 [molybdopterin-synthase sulfur-carrier protein]. Ref.8 Ref.9

Pathway

Cofactor biosynthesis; molybdopterin biosynthesis. HAMAP-Rule MF_03052

Subunit structure

Heterotetramer; composed of 2 small (MOCS2A) and 2 large (MOCS2B) subunits By similarity. Ref.8 Ref.9

Subcellular location

Cytoplasmcytosol Ref.9.

Tissue specificity

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. Ref.1

Involvement in disease

Molybdenum cofactor deficiency, complementation group B (MOCODB) [MIM:252160]: An 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.16 Ref.17 Ref.18

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).

Sequence similarities

Belongs to the MoaE family. MOCS2B subfamily.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 188188Molybdopterin synthase catalytic subunit HAMAP-Rule MF_03052
PRO_0000163111

Regions

Region143 – 1442Substrate binding By similarity
Region166 – 1683Substrate binding By similarity

Sites

Binding site1591Substrate By similarity

Amino acid modifications

Modified residue201Phosphoserine Ref.10 Ref.11 Ref.12 Ref.13 Ref.14

Natural variations

Natural variant501T → A.
Corresponds to variant rs2233213 [ dbSNP | Ensembl ].
VAR_050091
Natural variant771T → A.
Corresponds to variant rs2233215 [ dbSNP | Ensembl ].
VAR_050092
Natural variant1231H → Y.
Corresponds to variant rs2233218 [ dbSNP | Ensembl ].
VAR_050093
Natural variant1681E → K in MOCODB. Ref.16
VAR_012765
Natural variant1871N → S.
Corresponds to variant rs2233221 [ dbSNP | Ensembl ].
VAR_050094

Secondary structure

...................... 188
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
O96007 [UniParc].

Last modified May 1, 1999. Version 1.
Checksum: F405256D85621146

FASTA18820,944
        10         20         30         40         50         60 
MSSLEISSSC FSLETKLPLS PPLVEDSAFE PSRKDMDEVE EKSKDVINFT AEKLSVDEVS 

        70         80         90        100        110        120 
QLVISPLCGA ISLFVGTTRN NFEGKKVISL EYEAYLPMAE NEVRKICSDI RQKWPVKHIA 

       130        140        150        160        170        180 
VFHRLGLVPV SEASIIIAVS SAHRAASLEA VSYAIDTLKA KVPIWKKEIY EESSTWKGNK 


ECFWASNS 

« Hide

References

« Hide 'large scale' references
[1]"Human molybdopterin synthase gene: identification of a bicistronic transcript with overlapping reading frames."
Stallmeyer B., Drugeon G., Reiss J., Haenni A.L., Mendel R.R.
Am. J. Hum. Genet. 64:698-705(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], IDENTIFICATION OF BICISTRONIC GENE, TISSUE SPECIFICITY.
Tissue: Liver.
[2]"The two subunits of human molybdopterin synthase: evidence for a bicistronic messenger RNA with overlapping reading frames."
Sloan J., Kinghorn J.R., Unkles S.E.
Nucleic Acids Res. 27:854-858(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[3]Huang C., Huang Q., Wu T., Peng Y., Gu Y., Zhang L., Jiang C., Li Y., Han Z., Wang Y., Chen Z., Fu G.
Submitted (JUN-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Adrenal gland.
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Uterus.
[5]"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[6]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Duodenum.
[8]"Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency."
Leimkuehler S., Freuer A., Araujo J.A., Rajagopalan K.V., Mendel R.R.
J. Biol. Chem. 278:26127-26134(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: ENZYME ACTIVITY, FUNCTION, SUBUNIT.
[9]"Evidence for the physiological role of a rhodanese-like protein for the biosynthesis of the molybdenum cofactor in humans."
Matthies A., Rajagopalan K.V., Mendel R.R., Leimkuehler S.
Proc. Natl. Acad. Sci. U.S.A. 101:5946-5951(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: ENZYME ACTIVITY, FUNCTION, SUBUNIT, SUBCELLULAR LOCATION.
[10]"A probability-based approach for high-throughput protein phosphorylation analysis and site localization."
Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P.
Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-20, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[11]"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-20, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[12]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-20, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[13]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-20, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[14]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-20, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[15]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[16]"Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B."
Reiss J., Dorche C., Stallmeyer B., Mendel R.R., Cohen N., Zabot M.-T.
Am. J. Hum. Genet. 64:706-711(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MOCODB LYS-168.
[17]"Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase."
Leimkuehler S., Charcosset M., Latour P., Dorche C., Kleppe S., Scaglia F., Szymczak I., Schupp P., Hahnewald R., Reiss J.
Hum. Genet. 117:565-570(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN MOCODB.
[18]"A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase."
Hahnewald R., Leimkuehler S., Vilaseca A., Acquaviva-Bourdain C., Lenz U., Reiss J.
Mol. Genet. Metab. 89:210-213(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN MOCODB.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS3958.1.
PIRB59370.
RefSeqNP_004522.1. NM_004531.4.
UniGeneHs.163645.
Hs.594335.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
4AP8X-ray2.78A/B/C/D38-172[»]
ProteinModelPortalO96007.
SMRO96007. Positions 38-171.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110481. 3 interactions.
IntActO96007. 3 interactions.
STRING9606.ENSP00000339580.

PTM databases

PhosphoSiteO96007.

Proteomic databases

MaxQBO96007.
PRIDEO96007.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000396954; ENSP00000380157; ENSG00000164172.
GeneID4338.
KEGGhsa:4338.
UCSCuc003joz.3. human.

Organism-specific databases

CTD4338.
GeneCardsGC05M052429.
HGNCHGNC:7193. MOCS2.
HPAHPA037680.
MIM252160. phenotype.
603708. gene.
neXtProtNX_O96007.
PharmGKBPA30903.
GenAtlasSearch...

Phylogenomic databases

HOGENOMHOG000280991.
InParanoidO96007.
KOK03635.
OMAGNKECFW.
PhylomeDBO96007.
TreeFamTF314334.

Enzyme and pathway databases

BioCycMetaCyc:HS09033-MONOMER.
ReactomeREACT_111217. Metabolism.
REACT_116125. Disease.
UniPathwayUPA00344.

Gene expression databases

ArrayExpressO96007.
BgeeO96007.
CleanExHS_MOCS2.
GenevestigatorO96007.

Family and domain databases

Gene3D3.90.1170.40. 1 hit.
HAMAPMF_03052. MOC2B.
InterProIPR028888. MOCS2B_euk.
IPR003448. Mopterin_biosynth_MoaE.
[Graphical view]
PANTHERPTHR23404:SF2. PTHR23404:SF2. 1 hit.
PfamPF02391. MoaE. 1 hit.
[Graphical view]
SUPFAMSSF54690. SSF54690. 1 hit.
ProtoNetSearch...

Other

GeneWikiMOCS2.
GenomeRNAi4338.
NextBio17072.
PROO96007.
SOURCESearch...

Entry information

Entry nameMOC2B_HUMAN
AccessionPrimary (citable) accession number: O96007
Secondary accession number(s): Q6IAI3
Entry history
Integrated into UniProtKB/Swiss-Prot: February 11, 2002
Last sequence update: May 1, 1999
Last modified: July 9, 2014
This is version 119 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM