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

    Gene ID: 4337, updated on 28-Oct-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
    mouse all
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    Genomic context

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    See MOCS1 in Genome Data Viewer
    Location:
    6p21.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (39904170..39934462, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (39730595..39761764, complement)
    RS_2024_09 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 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. Radical S-Adenosylmethionine Enzymes in Human Health and Disease. Landgraf BJ, et al. Annu Rev Biochem, 2016 Jun 2. PMID 27145839
    2. Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic study. Macaya A, et al. Neuropediatrics, 2005 Dec. PMID 16429380
    3. A Turkish case with molybdenum cofactor deficiency. Ichida K, et al. Nucleosides Nucleotides Nucleic Acids, 2006. PMID 17065069
    4. An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency. Arenas M, et al. J Inherit Metab Dis, 2009 Aug. PMID 19544009
    5. Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia. Sass JO, et al. Brain Dev, 2010 Aug. PMID 19793632

    See all (43) 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

    Associated conditions

    Description Tests
    Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
    MedGen: C1854988 OMIM: 252150 GeneReviews: Molybdenum Cofactor Deficiency
    		not available

    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 3',8'-cyclase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 cyclic pyranopterin monophosphate synthase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 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 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
    		  
    located_in mitochondrion HTP PubMed 
    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
      UniProtKB/TrEMBL
      A0AAQ5BGM4
      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
      UniProtKB/TrEMBL
      A0AAQ5BGK8
      Related
      ENSP00000518964.1, ENST00000713661.1
      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
      UniProtKB/TrEMBL
      A0AAQ5BGK8
      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
      UniProtKB/TrEMBL
      A0AAQ5BGK8
      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
      UniProtKB/TrEMBL
      A0AAQ5BGM5
      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
      UniProtKB/TrEMBL
      A0AAQ5BGM5
      Related
      ENSP00000518965.1, ENST00000713662.1
      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/TrEMBL
      A0AAQ5BGM4
      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
      Related
      ENST00000487924.2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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