MOCS3 molybdenum cofactor synthesis 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MOCS3provided by HGNC
Official Full Name: molybdenum cofactor synthesis 3provided by HGNC
Primary source: HGNC:HGNC:15765
See related: Ensembl:ENSG00000124217 MIM:609277; AllianceGenome:HGNC:15765
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: UBA4
Summary: Molybdenum cofactor (MoCo) is necessary for the function of all molybdoenzymes. The protein encoded by this gene adenylates and activates molybdopterin synthase, an enzyme required for biosynthesis of MoCo. This gene contains no introns. A pseudogene of this gene is present on chromosome 14. [provided by RefSeq, Nov 2012]
Orthologs: mouse all
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Genomic context

Location:: 20q13.13

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (50958818..50963929)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (52729421..52734532)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (49575355..49580466)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Molecular basis for the bifunctional Uba4-Urm1 sulfur-relay system in tRNA thiolation and ubiquitin-like conjugation.
Title: Molecular basis for the bifunctional Uba4-Urm1 sulfur-relay system in tRNA thiolation and ubiquitin-like conjugation.
By different methods, this study identified a MOCS3-independent novel localization of NFS1 at the centrosome.
Title: Analysis of the Cellular Roles of MOCS3 Identifies a MOCS3-Independent Localization of NFS1 at the Tips of the Centrosome.
This observation should encourage testing of additional intellectual disability patients with mild abnormalities of sulfite metabolism for MOCS3 mutations.
Title: Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.
Among the associated variants were two in regions previously unreported for COPD; a low frequency non-synonymous SNP in MOCS3 (rs7269297, pdiscovery=3.08x10(-6), preplication=0.019) and a rare SNP in IFIT3, which emerged in the meta-analysis (rs140549288, pmeta=8.56x10(-6)).
Title: Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12.
ubiquitin-like Urm1.Uba4 systems are conserved and exchangeable between human and yeast cells
Title: Urmylation and tRNA thiolation functions of ubiquitin-like Uba4·Urm1 systems are conserved from yeast to man.
extension of the C terminus with an additional glycine of MOCS2A and URM1 altered the localization of MOCS3 from the cytosol to the nucleus.
Title: Dual role of the molybdenum cofactor biosynthesis protein MOCS3 in tRNA thiolation and molybdenum cofactor biosynthesis in humans.
Nfs1 acts as a sulfur donor for MOCS3, a protein involved in molybdenum cofactor biosynthesis
Title: A novel role for human Nfs1 in the cytoplasm: Nfs1 acts as a sulfur donor for MOCS3, a protein involved in molybdenum cofactor biosynthesis.
The UBA4-URM1 system represents the evolutionary link between protein conjugation and protein modification by sulfur carrier proteins.
Title: The sulfurtransferase activity of Uba4 presents a link between ubiquitin-like protein conjugation and activation of sulfur carrier proteins.
in humans & most eukaryotes thiosulfate is not physiologic sulfur donor for MOCS3, whereas in bacterial homologs, which have arginine at last position of active site loop, thiosulfate can be used as a sulfur source for molybdenum cofactor biosynthesis.
Title: Site-directed mutagenesis of the active site loop of the rhodanese-like domain of the human molybdopterin synthase sulfurase MOCS3. Major differences in substrate specificity between eukaryotic and bacterial homologs.
MOCS3 protein is believed to catalyze both the adenylation and the subsequent generation of a thiocarboxylate group at the C terminus of the smaller subunit of molybdopterin synthase
Title: Evidence for the physiological role of a rhodanese-like protein for the biosynthesis of the molybdenum cofactor in humans.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S16 (e-PCR)
- UniSTS:155756

D15S1477 (e-PCR)
- UniSTS:474482

D13S1553 (e-PCR)
- UniSTS:473482

MOCS3__6331 (e-PCR)
- UniSTS:464058

RH103960 (e-PCR)
- UniSTS:98285

KS608 (e-PCR)
- UniSTS:253179

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables URM1 activating enzyme activity	IBA Inferred from Biological aspect of Ancestor more info
enables URM1 activating enzyme activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables molybdopterin-synthase adenylyltransferase activity	IEA Inferred from Electronic Annotation more info
enables molybdopterin-synthase sulfurtransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables molybdopterin-synthase sulfurtransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables nucleotidyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables nucleotidyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sulfurtransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables sulfurtransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables thiosulfate sulfurtransferase activity	IBA Inferred from Biological aspect of Ancestor more info

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 metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in protein urmylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in tRNA thio-modification	IDA Inferred from Direct Assay more info	PubMed
involved_in tRNA thio-modification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in tRNA wobble position uridine thiolation	IBA Inferred from Biological aspect of Ancestor more info
involved_in tRNA wobble uridine modification	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: adenylyltransferase and sulfurtransferase MOCS3

Names: MPT synthase sulfurylase; UBA4, ubiquitin-activating enzyme E1 homolog; molybdenum cofactor synthesis protein 3; molybdopterin synthase sulfurylase; ubiquitin-like modifier activating enzyme 4

NP_055299.1

EC 2.7.7.80

EC 2.8.1.11

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.

mRNA and Protein(s)

NM_014484.5 → NP_055299.1 adenylyltransferase and sulfurtransferase MOCS3

See identical proteins and their annotated locations for NP_055299.1

Status: REVIEWED

Source sequence(s)

AF102544, AI942426, AL034553, BC015939, BQ188547, BY995583, DB452633, HY215239

Consensus CDS

CCDS13435.1

UniProtKB/Swiss-Prot

O95396

Related

ENSP00000244051.1, ENST00000244051.3

Conserved Domains (2) summary

cd00757
Location:62 → 285

ThiF_MoeB_HesA_family; ThiF_MoeB_HesA. Family of E1-like enzymes involved in molybdopterin and thiamine biosynthesis family. The common reaction mechanism catalyzed by MoeB and ThiF, like other E1 enzymes, begins with a nucleophilic attack of the C-terminal carboxylate of MoaD ...

cd01526
Location:327 → 460

RHOD_ThiF; Member of the Rhodanese Homology Domain superfamily. This CD includes several putative molybdopterin synthase sulfurylases including the molybdenum cofactor biosynthetic protein (CnxF) of Aspergillus nidulans and the molybdenum cofactor synthesis protein ...