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

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; AllianceGenome:HGNC:7193
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: mouse all
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Genomic context

Location:: 5q11.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (53095679..53109757, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (53923465..53937543, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (52391509..52405587, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Beyond Moco Biosynthesis-Moonlighting Roles of MoaE and MOCS2.
Title: Beyond Moco Biosynthesis-Moonlighting Roles of MoaE and MOCS2.
We reported here an infant with MoCD who presented with hypoxic ischaemic encephalopathy and identified a novel mutation, c.130C>T in cDNA of the MOCS2 gene from the infant.
Title: Molybdenum cofactor deficiency: clinical features in a Turkish patient.
Review: A total of 32 different disease-causing mutations, including several common to more than one family, have been identified in molybdenum cofactor-deficient patients and their relatives
Title: Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.
There was undisturbed production of both transcripts, while Western blot analysis demonstrated that MOCS2B, the large subunit, is unstable in the absence of MOCS2A.
Title: A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase.
analysis of sites within MOCS2 where mutations cause molybdenum cofactor deficiency
Title: Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B MedGen: C1854989 OMIM: 252160 GeneReviews: Molybdenum Cofactor Deficiency	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D5S2664 (e-PCR)
- UniSTS:29307

G62050 (e-PCR)
- UniSTS:139151

RH15640 (e-PCR)
- UniSTS:74696

RH119712 (e-PCR)
- UniSTS:133081

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to molybdopterin synthase activity	IDA Inferred from Direct Assay more info	PubMed
enables molybdopterin synthase activity	TAS Traceable Author Statement more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Mo-molybdopterin cofactor biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in Mo-molybdopterin cofactor biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in molybdopterin cofactor biosynthetic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
part_of molybdopterin synthase complex	IPI Inferred from Physical Interaction more info	PubMed
part_of molybdopterin synthase complex	NAS Non-traceable Author Statement more info	PubMed
located_in nuclear speck	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: molybdopterin synthase catalytic subunit; molybdopterin synthase sulfur carrier subunit

Names: molybdenum cofactor biosynthesis protein E

NP_004522.1

EC 2.8.1.12

NP_789776.1

EC 2.8.1.12

NCBI Reference Sequences (RefSeq)

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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

NG_008435.2 RefSeqGene

Range

5012..19090

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004531.5 → NP_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, Q6IAI3

Related

ENSP00000380157.3, ENST00000396954.8

Conserved Domains (1) summary

cd00756
Location:54 → 177

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 ...
NM_176806.4 → NP_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

UniProtKB/TrEMBL

E9PKT9

Related

ENSP00000411022.3, ENST00000450852.8

Conserved Domains (1) summary

cd00754
Location:7 → 88

MoaD; Ubiquitin domain of MoaD-like proteins