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MOCS2 molybdenum cofactor synthesis 2 [ Homo sapiens (human) ]

Gene ID: 4338, updated on 4-May-2015
Official Symbol
MOCS2provided by HGNC
Official Full Name
molybdenum cofactor synthesis 2provided by HGNC
Primary source
HGNC:HGNC:7193
See related
Ensembl:ENSG00000164172; HPRD:04750; MIM:603708; Vega:OTTHUMG00000096981
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MPTS; MCBPE; MOCO1; MOCODB
Summary
Eukaryotic molybdoenzymes use a unique molybdenum cofactor (MoCo) consisting of a pterin, termed molybdopterin, and the catalytically active metal molybdenum. MoCo is synthesized from precursor Z by the heterodimeric enzyme molybdopterin synthase. The large and small subunits of molybdopterin synthase are both encoded from this gene by overlapping open reading frames. The proteins were initially thought to be encoded from a bicistronic transcript. They are now thought to be encoded from monocistronic transcripts. Alternatively spliced transcripts have been found for this locus that encode the large and small subunits. [provided by RefSeq, Jul 2008]
Orthologs
See MOCS2 in MapViewer
Location:
5q11
Exon count:
7
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 5 NC_000005.10 (53095679..53109772, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (52391509..52405602, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene integrin, alpha 1 Neighboring gene ribosomal protein L17 pseudogene 21 Neighboring gene integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) Neighboring gene uncharacterized LOC257396 Neighboring gene ribosomal protein L13a pseudogene 13

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Molybdenum cofactor deficiency, complementation group B
MedGen: C1854989 OMIM: 252160 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ38513

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IEA
Inferred from Electronic Annotation
more info
 
molybdopterin synthase activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to molybdopterin synthase activity IDA
Inferred from Direct Assay
more info
PubMed 
molybdopterin synthase activity TAS
Traceable Author Statement
more info
 
nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
Mo-molybdopterin cofactor biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
Mo-molybdopterin cofactor biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
molybdopterin cofactor biosynthetic process TAS
Traceable Author Statement
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
vitamin metabolic process TAS
Traceable Author Statement
more info
 
water-soluble vitamin metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
molybdopterin synthase complex IPI
Inferred from Physical Interaction
more info
PubMed 
molybdopterin synthase complex NAS
Non-traceable Author Statement
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 
Preferred Names
molybdopterin synthase catalytic subunit; molybdopterin synthase sulfur carrier subunit
Names
molybdopterin synthase sulfur carrier subunit
MOCS2A
MOCS2B
molybdenum cofactor biosynthesis protein E
molybdopterin synthase small and large subunit
NP_004522.1
NP_789776.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008435.2 RefSeqGene

    Range
    4997..19090
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004531.4NP_004522.1  molybdopterin synthase catalytic subunit large subunit MOCS2B

    See identical proteins and their annotated locations for NP_004522.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) encodes the large subunit MOCS2B, also called MOCO1-B.
    Source sequence(s)
    AC008966, BC046097, BC095417, CB050849, DA967651
    Consensus CDS
    CCDS3958.1
    UniProtKB/TrEMBL
    A0A024QZS1
    UniProtKB/Swiss-Prot
    O96007
    Conserved Domains (1) summary
    cd00756
    Location:54177
    MoaE; MoaE family. Members of this family are involved in biosynthesis of the molybdenum cofactor (Moco), an essential cofactor for a diverse group of redox enzymes. Moco biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...
  2. NM_176806.3NP_789776.1  molybdopterin synthase sulfur carrier subunit small subunit MOCS2A

    See identical proteins and their annotated locations for NP_789776.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) has an alternate splice site in the 5' region, as compared to variant 3. This variant encodes the small subunit MOCS2A, also called MOCO1-A, which is derived from the upstream ORF and is supported by PMID 16737835.
    Source sequence(s)
    AC008966, BC095417, CB050849
    Consensus CDS
    CCDS47205.1
    UniProtKB/Swiss-Prot
    O96033
    Related
    ENSP00000355160, OTTHUMP00000221522, ENST00000361377, OTTHUMT00000367796
    Conserved Domains (1) summary
    cd00754
    Location:788
    MoaD; Ubiquitin domain of MoaD-like proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p2 Primary Assembly

    Range
    53095679..53109772
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 Alternate CHM1_1.1

    Range
    52394058..52408152
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)