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MOCS1 molybdenum cofactor synthesis 1 [ Homo sapiens (human) ]

Gene ID: 4337, updated on 23-Mar-2024

Summary

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Official Symbol
MOCS1provided by HGNC
Official Full Name
molybdenum cofactor synthesis 1provided by HGNC
Primary source
HGNC:HGNC:7190
See related
Ensembl:ENSG00000124615 MIM:603707; AllianceGenome:HGNC:7190
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
MIG11; MOCOD; MOCS1A; MOCS1B
Summary
Molybdenum cofactor biosynthesis is a conserved pathway leading to the biological activation of molybdenum. The protein encoded by this gene is involved in this pathway. This gene was originally thought to produce a bicistronic mRNA with the potential to produce two proteins (MOCS1A and MOCS1B) from adjacent open reading frames. However, only the first open reading frame (MOCS1A) has been found to encode a protein from the putative bicistronic mRNA, whereas additional splice variants are likely to produce a fusion between the two open reading frames. This gene is defective in patients with molybdenum cofactor deficiency, type A. A related pseudogene has been identified on chromosome 16. [provided by RefSeq, Nov 2017]
Expression
Ubiquitous expression in fat (RPKM 21.7), placenta (RPKM 14.9) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
6p21.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (39904170..39934462, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (39730595..39761764, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (39871946..39902201, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901487 Neighboring gene dishevelled associated activator of morphogenesis 2 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:39791936-39792496 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:39817294-39817794 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:39832273-39832772 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:39855425-39856624 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:39864575-39865074 Neighboring gene DAAM2 antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:39865375-39865891 Neighboring gene uncharacterized LOC102723789 Neighboring gene ribosomal protein L23 pseudogene 6 Neighboring gene tubulin beta class I pseudogene 9

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation. Mayr SJ, et al. J Inherit Metab Dis, 2018 Mar. PMID 29368224
  2. Radical S-Adenosylmethionine Enzymes in Human Health and Disease. Landgraf BJ, et al. Annu Rev Biochem, 2016 Jun 2. PMID 27145839
  3. A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis. Calvel P, et al. Sex Dev, 2015. PMID 26544196
  4. Molybdenum cofactor deficiency: review of 12 cases (MoCD and review). Bayram E, et al. Eur J Paediatr Neurol, 2013 Jan. PMID 23122324
  5. Prenatal brain disruption in molybdenum cofactor deficiency. Carmi-Nawi N, et al. J Child Neurol, 2011 Apr. PMID 21285035

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. New Neuroimaging Findings in Patients with Molybdenum Cofactor Deficiency Type A: A Case Report and Literature Review.
    Title: New Neuroimaging Findings in Patients with Molybdenum Cofactor Deficiency Type A: A Case Report and Literature Review.
  2. Alternative splicing of the bicistronic gene molybdenum cofactor synthesis 1 (MOCS1) uncovers a novel mitochondrial protein maturation mechanism.
    Title: Alternative splicing of the bicistronic gene molybdenum cofactor synthesis 1 (MOCS1) uncovers a novel mitochondrial protein maturation mechanism.
  3. ETHE1 and MOCS1 deficiencies: Disruption of mitochondrial bioenergetics, dynamics, redox homeostasis and endoplasmic reticulum-mitochondria crosstalk in patient fibroblasts.
    Title: ETHE1 and MOCS1 deficiencies: Disruption of mitochondrial bioenergetics, dynamics, redox homeostasis and endoplasmic reticulum-mitochondria crosstalk in patient fibroblasts.
  4. Case Report: in a mild case of molybdenum cofactor deficiency detected two proteins: a truncated MOCS1AB protein and a 22.4 kDa protein representing MOCS1B, demonstrating an unusual mechanism of translation re-initiation in the MOCS1 transcript, which results in trace amounts of functional MOCS1B protein being sufficient to partially protect the patient from the most severe symptoms.
    Title: A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation.
  5. genetic and protein structural analysis of MOCS1 in molybdenum cofactor deficiency [case report]
    Title: A Turkish case with molybdenum cofactor deficiency.
  6. MOCS1A is an oxygen-sensitive iron-sulfur protein involved in human molybdenum cofactor biosynthesis
    Title: Characterization of MOCS1A, an oxygen-sensitive iron-sulfur protein involved in human molybdenum cofactor biosynthesis.
  7. 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.
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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0381

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 4 iron, 4 sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
  
enables GTP 3',8'-cyclase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables GTP binding IEA
Inferred from Electronic Annotation
more info
  
enables S-adenosyl-L-methionine binding IEA
Inferred from Electronic Annotation
more info
  
enables cyclic pyranopterin monophosphate synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in Mo-molybdopterin cofactor biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in Mo-molybdopterin cofactor biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in Mo-molybdopterin cofactor biosynthetic process TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
part_of molybdopterin synthase complex IEA
Inferred from Electronic Annotation
more info
  
located_in nucleus NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
molybdenum cofactor biosynthesis protein 1
Names
MOCS1A enzyme
cell migration-inducing gene 11 protein
molybdenum cofactor biosynthesis protein A
molybdenum cofactor synthesis-step 1 protein A-B
NP_001068566.1
NP_001345458.1
NP_001345459.1
NP_001345460.1
NP_001345462.1
NP_001345463.1
NP_005934.2
XP_047274784.1
XP_054211485.1

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

  1. NG_009297.2 RefSeqGene

    Range
    5000..35292
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001075098.4 → NP_001068566.1  molybdenum cofactor biosynthesis protein 1 isoform 4

    See identical proteins and their annotated locations for NP_001068566.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains a distinct 5' UTR and 5' coding region, compared to variant 1, resulting in an isoform (4) that is the same length but has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AF034374, AK300300, AV724791, DC377054, FO393411
    Consensus CDS
    CCDS43460.1
    Related
    ENSP00000362284.2, ENST00000373188.6
    Conserved Domains (3) summary
    cd01335
    Location:74 → 271
    Radical_SAM; Radical SAM superfamily. Enzymes of this family generate radicals by combining a 4Fe-4S cluster and S-adenosylmethionine (SAM) in close proximity. They are characterized by a conserved CxxxCxxC motif, which coordinates the conserved iron-sulfur cluster. ...
    PLN02951
    Location:19 → 385
    PLN02951; Molybderin biosynthesis protein CNX2
    pfam06463
    Location:241 → 367
    Mob_synth_C; Molybdenum Cofactor Synthesis C

  2. NM_001358529.2 → NP_001345458.1  molybdenum cofactor biosynthesis protein 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    CA944911, FO393411
    Conserved Domains (2) summary
    PLN02951
    Location:19 → 370
    PLN02951; Molybderin biosynthesis protein CNX2
    PRK09364
    Location:465 → 619
    moaC; molybdenum cofactor biosynthesis protein MoaC; Provisional

  3. NM_001358530.2 → NP_001345459.1  molybdenum cofactor biosynthesis protein 1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    CA944911, FO393411
    Consensus CDS
    CCDS87394.1
    UniProtKB/Swiss-Prot
    B3KPT7, B4DTP1, O14940, O14941, O75710, Q5J7W0, Q5TCE1, Q5TCE2, Q5TCE6, Q5TCE9, Q5TCF0, Q5TCF1, Q8N418, Q9NZB7, Q9NZB8, Q9UEM1
    Related
    ENSP00000344794.5, ENST00000340692.10
    Conserved Domains (2) summary
    PLN02951
    Location:19 → 383
    PLN02951; Molybderin biosynthesis protein CNX2
    PRK09364
    Location:481 → 635
    moaC; molybdenum cofactor biosynthesis protein MoaC; Provisional

  4. NM_001358531.2 → NP_001345460.1  molybdenum cofactor biosynthesis protein 1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    CA944911, FO393411
    Related
    ENSP00000362291.3, ENST00000373195.7
    Conserved Domains (2) summary
    PRK09364
    Location:394 → 548
    moaC; molybdenum cofactor biosynthesis protein MoaC; Provisional
    cl28177
    Location:1 → 296
    SkfB; Radical SAM superfamily enzyme, MoaA/NifB/PqqE/SkfB family [General function prediction only]

  5. NM_001358533.2 → NP_001345462.1  molybdenum cofactor biosynthesis protein 1 isoform 9

    Status: REVIEWED

    Source sequence(s)
    CA944911, FO393411
    Conserved Domains (1) summary
    cl28177
    Location:1 → 298
    SkfB; Radical SAM superfamily enzyme, MoaA/NifB/PqqE/SkfB family [General function prediction only]

  6. NM_001358534.2 → NP_001345463.1  molybdenum cofactor biosynthesis protein 1 isoform 9

    Status: REVIEWED

    Source sequence(s)
    CA944911, FO393411
    Related
    ENSP00000362277.4, ENST00000373181.8
    Conserved Domains (1) summary
    cl28177
    Location:1 → 298
    SkfB; Radical SAM superfamily enzyme, MoaA/NifB/PqqE/SkfB family [General function prediction only]

  7. NM_005943.6 → NP_005934.2  molybdenum cofactor biosynthesis protein 1 isoform 1

    See identical proteins and their annotated locations for NP_005934.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.
    Source sequence(s)
    AJ224328, AV724791, FO393411
    UniProtKB/Swiss-Prot
    Q9NZB8
    Related
    ENST00000645522.1
    Conserved Domains (3) summary
    cd01335
    Location:74 → 271
    Radical_SAM; Radical SAM superfamily. Enzymes of this family generate radicals by combining a 4Fe-4S cluster and S-adenosylmethionine (SAM) in close proximity. They are characterized by a conserved CxxxCxxC motif, which coordinates the conserved iron-sulfur cluster. ...
    PLN02951
    Location:35 → 385
    PLN02951; Molybderin biosynthesis protein CNX2
    pfam06463
    Location:241 → 367
    Mob_synth_C; Molybdenum Cofactor Synthesis C

RNA

  1. NR_033233.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an alternate 5' exon and lacks an alternate internal exon in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon, as used in variant 4, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK056740, AV724791, FO393411

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    39904170..39934462 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047418828.1 → XP_047274784.1  molybdenum cofactor biosynthesis protein 1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    39730595..39761764 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054355510.1 → XP_054211485.1  molybdenum cofactor biosynthesis protein 1 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_005942.3: Suppressed sequence

    Description
    NM_005942.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

  2. NM_138928.3: Suppressed sequence

    Description
    NM_138928.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NZB8.3 GenPept UniProtKB/Swiss-Prot:Q9NZB8

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