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

    Gene ID: 4337, updated on 4-Feb-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MOCS1 in Genome Data Viewer
    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

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    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

    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)

    NEW Try the new Transcript table

    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_001075098.4NP_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:74271
      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:19385
      PLN02951; Molybderin biosynthesis protein CNX2
      pfam06463
      Location:241367
      Mob_synth_C; Molybdenum Cofactor Synthesis C
    2. NM_001358529.2NP_001345458.1  molybdenum cofactor biosynthesis protein 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      CA944911, FO393411
      Conserved Domains (2) summary
      PLN02951
      Location:19370
      PLN02951; Molybderin biosynthesis protein CNX2
      PRK09364
      Location:465619
      moaC; molybdenum cofactor biosynthesis protein MoaC; Provisional
    3. NM_001358530.2NP_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:19383
      PLN02951; Molybderin biosynthesis protein CNX2
      PRK09364
      Location:481635
      moaC; molybdenum cofactor biosynthesis protein MoaC; Provisional
    4. NM_001358531.2NP_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:394548
      moaC; molybdenum cofactor biosynthesis protein MoaC; Provisional
      cl28177
      Location:1296
      SkfB; Radical SAM superfamily enzyme, MoaA/NifB/PqqE/SkfB family [General function prediction only]
    5. NM_001358533.2NP_001345462.1  molybdenum cofactor biosynthesis protein 1 isoform 9

      Status: REVIEWED

      Source sequence(s)
      CA944911, FO393411
      Conserved Domains (1) summary
      cl28177
      Location:1298
      SkfB; Radical SAM superfamily enzyme, MoaA/NifB/PqqE/SkfB family [General function prediction only]
    6. NM_001358534.2NP_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:1298
      SkfB; Radical SAM superfamily enzyme, MoaA/NifB/PqqE/SkfB family [General function prediction only]
    7. NM_005943.6NP_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:74271
      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:35385
      PLN02951; Molybderin biosynthesis protein CNX2
      pfam06463
      Location:241367
      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_047418828.1XP_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_054355510.1XP_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.