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

Gene ID: 4337, updated on 5-Aug-2018

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; Vega:OTTHUMG00000014656
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

Genomic context

See MOCS1 in Genome Data Viewer
Location:
6p21.2
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (39904258..39934551, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (39872034..39902290, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene kinesin family member 6 Neighboring gene RNA, U1 small nuclear 54, pseudogene Neighboring gene dishevelled associated activator of morphogenesis 2 Neighboring gene uncharacterized LOC100505635 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 Jun 15 11:32:44 2016

Bibliography

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0381

Gene Ontology Provided by GOA

Function Evidence Code Pubs
4 iron, 4 sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
 
GTP 3',8'-cyclase activity IEA
Inferred from Electronic Annotation
more info
 
GTP binding IEA
Inferred from Electronic Annotation
more info
 
cyclic pyranopterin monophosphate synthase activity IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
Mo-molybdopterin cofactor biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Mo-molybdopterin cofactor biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
molybdopterin cofactor biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
molybdopterin synthase complex IEA
Inferred from Electronic Annotation
more info
 
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

NCBI Reference Sequences (RefSeq)

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_009297.1 RefSeqGene

    Range
    4965..35221
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001075098.3NP_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/Swiss-Prot
    Q9NZB8
    UniProtKB/TrEMBL
    A0A024RD17
    Related
    ENSP00000362284.2, OTTHUMP00000016360, ENST00000373188.6, OTTHUMT00000040479
    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_001358529.1NP_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_001358530.1NP_001345459.1  molybdenum cofactor biosynthesis protein 1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    CA944911, FO393411
    Consensus CDS
    CCDS87394.1
    Related
    ENSP00000344794.5, ENST00000340692.9
    Conserved Domains (2) summary
    PLN02951
    Location:19383
    PLN02951; Molybderin biosynthesis protein CNX2
    PRK09364
    Location:481635
    moaC; molybdenum cofactor biosynthesis protein MoaC; Provisional
  4. NM_001358531.1NP_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_001358533.1NP_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_001358534.1NP_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_005943.5NP_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
    ENSP00000362282.4, OTTHUMP00000016353, ENST00000373186.9, OTTHUMT00000040472
    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_033233.1 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, DC377054, FO393411
    Related
    ENST00000645522.1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    39904258..39934551 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.
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