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

Gene ID: 4338, updated on 5-Apr-2020

Summary

Official Symbol
MOCS2provided by HGNC
Official Full Name
molybdenum cofactor synthesis 2provided by HGNC
Primary source
HGNC:HGNC:7193
See related
Ensembl:ENSG00000164172 MIM:603708
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]
Expression
Ubiquitous expression in kidney (RPKM 14.3), adrenal (RPKM 13.2) and 25 other tissues See more
Orthologs

Genomic context

See MOCS2 in Genome Data Viewer
Location:
5q11.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (53095679..53109757, 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 subunit alpha 1 Neighboring gene ribosomal protein L17 pseudogene 21 Neighboring gene integrin subunit alpha 2 Neighboring gene CRISPRi-validated cis-regulatory element chr5.1275 Neighboring gene uncharacterized LOC257396

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Molybdenum cofactor deficiency, complementation group B
MedGen: C1854989 OMIM: 252160 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ38513

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molybdopterin synthase activity IDA
Inferred from Direct Assay
more info
PubMed 
molybdopterin synthase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
Mo-molybdopterin cofactor biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
molybdopterin cofactor biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
molybdopterin synthase complex IPI
Inferred from Physical Interaction
more info
PubMed 
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
molybdopterin synthase catalytic subunit; molybdopterin synthase sulfur carrier subunit
Names
molybdenum cofactor biosynthesis protein E
NP_004522.1
NP_789776.1

NCBI Reference Sequences (RefSeq)

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
    5012..19090
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004531.5NP_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/Swiss-Prot
    O96007
    UniProtKB/TrEMBL
    A0A024QZS1
    Related
    ENSP00000380157.3, ENST00000396954.8
    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_176806.4NP_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
    ENSP00000411022.3, ENST00000450852.7
    Conserved Domains (1) summary
    cd00754
    Location:788
    MoaD; Ubiquitin domain of MoaD-like proteins

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    53095679..53109757 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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