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Protein

Molybdenum cofactor biosynthesis protein 1

Gene

MOCS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Isoform MOCS1A and isoform MOCS1B probably form a complex that catalyzes the conversion of 5'-GTP to cyclic pyranopterin monophosphate (cPMP). MOCS1A catalyzes the cyclization of GTP to (8S)-3',8-cyclo-7,8-dihydroguanosine 5'-triphosphate and MOCS1B catalyzes the subsequent conversion of (8S)-3',8-cyclo-7,8-dihydroguanosine 5'-triphosphate to cPMP.1 Publication

Catalytic activityi

GTP + S-adenosyl-L-methionine + reduced electron acceptor = (8S)-3',8-cyclo-7,8-dihydroguanosine 5'-triphosphate + 5'-deoxyadenosine + L-methionine + oxidized electron acceptor.By similarity
(8S)-3',8-cyclo-7,8-dihydroguanosine 5'-triphosphate = cyclic pyranopterin phosphate + diphosphate.1 Publication

Cofactori

[4Fe-4S] cluster1 PublicationNote: Binds 2 [4Fe-4S] clusters. Binds 1 [4Fe-4S] cluster coordinated with 3 cysteines and an exchangeable S-adenosyl-L-methionine and 1 [4Fe-4S] cluster coordinated with 3 cysteines and the GTP-derived substrate.1 Publication

Kineticsi

kcat is 0.092 min(-1) for (8S)-3',8-cyclo-7,8-dihydroguanosine 5'-triphosphate.1 Publication

Manual assertion based on experiment ini

  1. KM=0.79 µM for (8S)-3',8-cyclo-7,8-dihydroguanosine 5'-triphosphate1 Publication

    Pathwayi: molybdopterin biosynthesis

    This protein is involved in the pathway molybdopterin biosynthesis, which is part of Cofactor biosynthesis.
    View all proteins of this organism that are known to be involved in the pathway molybdopterin biosynthesis and in Cofactor biosynthesis.

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Binding sitei73GTPBy similarity1
    Metal bindingi80Iron-sulfur 1 (4Fe-4S-S-AdoMet)Curated1
    Metal bindingi84Iron-sulfur 1 (4Fe-4S-S-AdoMet)Curated1
    Binding sitei86S-adenosyl-L-methionineBy similarity1
    Metal bindingi87Iron-sulfur 1 (4Fe-4S-S-AdoMet)Curated1
    Binding sitei123GTPBy similarity1
    Binding sitei127S-adenosyl-L-methionine; via carbonyl oxygenBy similarity1
    Binding sitei154GTPBy similarity1
    Binding sitei178S-adenosyl-L-methionineBy similarity1
    Binding sitei215GTPBy similarity1
    Binding sitei249S-adenosyl-L-methionine; via amide nitrogen and carbonyl oxygenBy similarity1
    Metal bindingi312Iron-sulfur 2 (4Fe-4S-substrate)Curated1
    Metal bindingi315Iron-sulfur 2 (4Fe-4S-substrate)Curated1
    Metal bindingi329Iron-sulfur 2 (4Fe-4S-substrate)Curated1
    Active sitei606For molybdenum cofactor biosynthesis protein C activitySequence analysis1

    GO - Molecular functioni

    • 4 iron, 4 sulfur cluster binding Source: UniProtKB
    • GTP binding Source: UniProtKB-KW
    • lyase activity Source: UniProtKB-KW
    • metal ion binding Source: UniProtKB-KW

    GO - Biological processi

    Complete GO annotation...

    Keywords - Molecular functioni

    Lyase

    Keywords - Biological processi

    Molybdenum cofactor biosynthesis

    Keywords - Ligandi

    4Fe-4S, GTP-binding, Iron, Iron-sulfur, Metal-binding, Nucleotide-binding, S-adenosyl-L-methionine

    Enzyme and pathway databases

    ReactomeiR-HSA-947581. Molybdenum cofactor biosynthesis.
    UniPathwayiUPA00344.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Molybdenum cofactor biosynthesis protein 1
    Alternative name(s):
    Cell migration-inducing gene 11 protein
    Molybdenum cofactor synthesis-step 1 protein A-B
    Including the following 2 domains:
    GTP 3',8-cyclaseCurated (EC:4.1.99.22By similarity)
    Alternative name(s):
    Molybdenum cofactor biosynthesis protein A
    Cyclic pyranopterin monophosphate synthaseCurated (EC:4.6.1.171 Publication)
    Alternative name(s):
    Molybdenum cofactor biosynthesis protein C
    Gene namesi
    Name:MOCS1
    ORF Names:MIG11
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:7190. MOCS1.

    Subcellular locationi

    GO - Cellular componenti

    • cytosol Source: Reactome
    • molybdopterin synthase complex Source: InterPro
    • nucleus Source: UniProtKB
    Complete GO annotation...

    Pathology & Biotechi

    Involvement in diseasei

    Molybdenum cofactor deficiency, complementation group A (MOCODA)4 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionAn autosomal recessive metabolic disorder leading to the pleiotropic loss of molybdoenzyme activities. It is clinically characterized by onset in infancy of poor feeding, intractable seizures, severe psychomotor retardation, and death in early childhood in most patients.
    See also OMIM:252150
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_05482367R → W in MOCODA. 1 PublicationCorresponds to variant rs754441164dbSNPEnsembl.1
    Natural variantiVAR_01565873R → W in MOCODA. 1 PublicationCorresponds to variant rs104893970dbSNPEnsembl.1
    Natural variantiVAR_05482480C → G in MOCODA. 1 PublicationCorresponds to variant rs151141411dbSNPEnsembl.1
    Natural variantiVAR_05482584C → F in MOCODA. 1 Publication1
    Natural variantiVAR_054826123R → W in MOCODA. 1 PublicationCorresponds to variant rs779592342dbSNPEnsembl.1
    Natural variantiVAR_015659126G → D in MOCODA. 1 PublicationCorresponds to variant rs372246702dbSNPEnsembl.1
    Natural variantiVAR_015660127G → D in MOCODA. 1 Publication1
    Natural variantiVAR_015661319R → Q in MOCODA. 1 PublicationCorresponds to variant rs104893969dbSNPEnsembl.1
    Natural variantiVAR_015662324G → E in MOCODA. 1 Publication1
    Natural variantiVAR_054827324G → R in MOCODA. 1 PublicationCorresponds to variant rs762253951dbSNPEnsembl.1

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Mutagenesisi80C → S: Impairs precursor Z synthesis. 1 Publication1
    Mutagenesisi84C → S: Impairs precursor Z synthesis. 1 Publication1
    Mutagenesisi87C → S: Impairs precursor Z synthesis. 1 Publication1
    Mutagenesisi312C → S: Impairs precursor Z synthesis. 1 Publication1
    Mutagenesisi315C → S: Impairs precursor Z synthesis. 1 Publication1
    Mutagenesisi329C → S: Impairs precursor Z synthesis. 1 Publication1

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    DisGeNETi4337.
    MalaCardsiMOCS1.
    MIMi252150. phenotype.
    OpenTargetsiENSG00000124615.
    Orphaneti308386. Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A.
    PharmGKBiPA30900.

    Polymorphism and mutation databases

    BioMutaiMOCS1.
    DMDMi30913216.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    ChainiPRO_00000978701 – 636Molybdenum cofactor biosynthesis protein 1Add BLAST636

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Modified residuei64PhosphoserineCombined sources1
    Modified residuei198N6-acetyllysineCombined sources1
    Modified residuei528N6-acetyllysineBy similarity1

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiQ9NZB8.
    PaxDbiQ9NZB8.
    PeptideAtlasiQ9NZB8.
    PRIDEiQ9NZB8.

    PTM databases

    iPTMnetiQ9NZB8.
    PhosphoSitePlusiQ9NZB8.

    Expressioni

    Tissue specificityi

    Isoform MOCS1A and isoform 2 are widely expressed.2 Publications

    Gene expression databases

    BgeeiENSG00000124615.
    CleanExiHS_MOCS1.
    ExpressionAtlasiQ9NZB8. baseline and differential.
    GenevisibleiQ9NZB8. HS.

    Organism-specific databases

    HPAiHPA045783.
    HPA058177.

    Interactioni

    Subunit structurei

    Isoform MOCS1A and isoform MOCS1B probably form a heterooligomer.Curated

    Protein-protein interaction databases

    BioGridi110480. 11 interactors.
    IntActiQ9NZB8. 1 interactor.
    STRINGi9606.ENSP00000362282.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NZB8.
    SMRiQ9NZB8.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Regioni1 – 383Molybdenum cofactor biosynthesis protein AAdd BLAST383
    Regioni317 – 319GTP bindingBy similarity3
    Regioni414 – 636Molybdenum cofactor biosynthesis protein CAdd BLAST223

    Sequence similaritiesi

    In the C-terminal section; belongs to the MoaC family.Curated
    In the N-terminal section; belongs to the MoaA/NifB/PqqE family.Curated

    Phylogenomic databases

    eggNOGiKOG2876. Eukaryota.
    COG2896. LUCA.
    GeneTreeiENSGT00390000016567.
    InParanoidiQ9NZB8.
    KOiK03639.
    OMAiGWIHQIR.
    OrthoDBiEOG091G0HQS.
    PhylomeDBiQ9NZB8.
    TreeFamiTF300424.

    Family and domain databases

    CDDicd01420. MoaC_PE. 1 hit.
    Gene3Di3.20.20.70. 1 hit.
    3.30.70.640. 1 hit.
    HAMAPiMF_01225_B. MoaA_B. 1 hit.
    MF_01224_B. MoaC_B. 1 hit.
    InterProiIPR013785. Aldolase_TIM.
    IPR006638. Elp3/MiaB/NifB.
    IPR023045. Mo_CF_biosynth-C.
    IPR023046. Mo_CF_biosynth-C_bac.
    IPR013483. MoaA.
    IPR000385. MoaA_NifB_PqqE_Fe-S-bd_CS.
    IPR010505. Mob_synth_C.
    IPR002820. Mopterin_CF_biosynth-C_dom.
    IPR007197. rSAM.
    [Graphical view]
    PfamiPF01967. MoaC. 1 hit.
    PF06463. Mob_synth_C. 1 hit.
    PF04055. Radical_SAM. 1 hit.
    [Graphical view]
    SMARTiSM00729. Elp3. 1 hit.
    [Graphical view]
    SUPFAMiSSF55040. SSF55040. 1 hit.
    TIGRFAMsiTIGR02666. moaA. 1 hit.
    TIGR00581. moaC. 1 hit.
    PROSITEiPS01305. MOAA_NIFB_PQQE. 1 hit.
    [Graphical view]

    Sequences (8)i

    Sequence statusi: Complete.

    This entry describes 8 isoformsi produced by alternative splicing. AlignAdd to basket

    Note: So far, the different types of MOCS1A and MOCS1B isoforms have been investigated independently and several combinations might be possible.
    Isoform MOCS1B (identifier: Q9NZB8-1) [UniParc]FASTAAdd to basket
    Also known as: MOCS1B Type-II

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

            10         20         30         40         50
    MAARPLSRML RRLLRSSARS CSSGAPVTQP CPGESARAAS EEVSRRRQFL
    60 70 80 90 100
    REHAAPFSAF LTDSFGRQHS YLRISLTEKC NLRCQYCMPE EGVPLTPKAN
    110 120 130 140 150
    LLTTEEILTL ARLFVKEGID KIRLTGGEPL IRPDVVDIVA QLQRLEGLRT
    160 170 180 190 200
    IGVTTNGINL ARLLPQLQKA GLSAINISLD TLVPAKFEFI VRRKGFHKVM
    210 220 230 240 250
    EGIHKAIELG YNPVKVNCVV MRGLNEDELL DFAALTEGLP LDVRFIEYMP
    260 270 280 290 300
    FDGNKWNFKK MVSYKEMLDT VRQQWPELEK VPEEESSTAK AFKIPGFQGQ
    310 320 330 340 350
    ISFITSMSEH FCGTCNRLRI TADGNLKVCL FGNSEVSLRD HLRAGASEQE
    360 370 380 390 400
    LLRIIGAAVG RKKRQHAGMF SISQMKNRPM ILIELFLMFP NSPPANPSIF
    410 420 430 440 450
    SWDPLHVQGL RPRMSFSSQV ATLWKGCRVP QTPPLAQQRL GSGSFQRHYT
    460 470 480 490 500
    SRADSDANSK CLSPGSWASA APSGPQLTSE QLTHVDSEGR AAMVDVGRKP
    510 520 530 540 550
    DTERVAVASA VVLLGPVAFK LVQQNQLKKG DALVVAQLAG VQAAKVTSQL
    560 570 580 590 600
    IPLCHHVALS HIQVQLELDS TRHAVKIQAS CRARGPTGVE MEALTSAAVA
    610 620 630
    ALTLYDMCKA VSRDIVLEEI KLISKTGGQR GDFHRA
    Note: Multidomain protein with inactive MOCS1A and active MOCS1B.
    Length:636
    Mass (Da):70,105
    Last modified:May 16, 2003 - v3
    Checksum:i6774A563BAC42120
    GO
    Isoform MOCS1A (identifier: Q9NZB8-5) [UniParc]FASTAAdd to basket
    Also known as: MOCS1A Type/Iad

    The sequence of this isoform differs from the canonical sequence as follows:
         384-385: EL → GG
         386-636: Missing.

    Show »
    Length:385
    Mass (Da):43,088
    Checksum:i77AB231D6DBB267E
    GO
    Isoform 2 (identifier: Q9NZB8-6) [UniParc]FASTAAdd to basket
    Also known as: MOCS1A Type-Ibcd

    The sequence of this isoform differs from the canonical sequence as follows:
         1-41: MAARPLSRML...PGESARAASE → MWKSWKLRTD...PCFLPGLSSQ
         384-385: EL → GG
         386-636: Missing.

    Show »
    Length:385
    Mass (Da):43,150
    Checksum:i8E43CD0F611F8804
    GO
    Isoform 3 (identifier: Q9NZB8-3) [UniParc]FASTAAdd to basket
    Also known as: MOCS1A Type-Ibd

    The sequence of this isoform differs from the canonical sequence as follows:
         1-41: MAARPLSRMLRRLLRSSARSCSSGAPVTQPCPGESARAASE → MWKSWKLRTDVR
         384-385: EL → GG
         386-636: Missing.

    Show »
    Length:356
    Mass (Da):40,378
    Checksum:i99F4B6D6B6A7B885
    GO
    Isoform 4 (identifier: Q9NZB8-4) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-87: Missing.
         368-368: G → E
         369-636: Missing.

    Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    Show »
    Length:281
    Mass (Da):31,453
    Checksum:i0397D4D12A8C191B
    GO
    Isoform 6 (identifier: Q9NZB8-2) [UniParc]FASTAAdd to basket
    Also known as: MOCS1B Type-III

    The sequence of this isoform differs from the canonical sequence as follows:
         368-383: Missing.

    Note: Multidomain protein with inactive MOCS1A and active MOCS1B.
    Show »
    Length:620
    Mass (Da):68,257
    Checksum:i23CB32E0E6F8535D
    GO
    Isoform 7 (identifier: Q9NZB8-7) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-87: Missing.
         368-383: Missing.

    Show »
    Length:533
    Mass (Da):58,455
    Checksum:iFBE48E29A35248D4
    GO
    Isoform 8 (identifier: Q9NZB8-8) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-41: MAARPLSRML...PGESARAASE → MWKSWKLRTD...PCFLPGLSSQ

    Show »
    Length:636
    Mass (Da):70,167
    Checksum:iD78D063A89E6131D
    GO

    Sequence cautioni

    The sequence AAB87524 differs from that shown. Alternative splicing in the MOCS1A-MOCS1B joining region.Curated
    The sequence AAS00489 differs from that shown. Reason: Erroneous initiation.Curated
    The sequence CAC44526 differs from that shown. Alternative splicing in the MOCS1A-MOCS1B joining region.Curated
    The sequence CAI20007 differs from that shown. Reason: Erroneous gene model prediction.Curated
    The sequence CAI20012 differs from that shown. Reason: Erroneous gene model prediction.Curated
    The sequence CAI20013 differs from that shown. Reason: Erroneous gene model prediction.Curated

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Sequence conflicti233A → V in BAG51799 (PubMed:14702039).Curated1
    Sequence conflicti233A → V in BAG62053 (PubMed:14702039).Curated1
    Sequence conflicti239L → H in AAB87523 (Ref. 2) Curated1
    Sequence conflicti421A → G in BAG51799 (PubMed:14702039).Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_05482367R → W in MOCODA. 1 PublicationCorresponds to variant rs754441164dbSNPEnsembl.1
    Natural variantiVAR_01565873R → W in MOCODA. 1 PublicationCorresponds to variant rs104893970dbSNPEnsembl.1
    Natural variantiVAR_05482480C → G in MOCODA. 1 PublicationCorresponds to variant rs151141411dbSNPEnsembl.1
    Natural variantiVAR_05482584C → F in MOCODA. 1 Publication1
    Natural variantiVAR_054826123R → W in MOCODA. 1 PublicationCorresponds to variant rs779592342dbSNPEnsembl.1
    Natural variantiVAR_015659126G → D in MOCODA. 1 PublicationCorresponds to variant rs372246702dbSNPEnsembl.1
    Natural variantiVAR_015660127G → D in MOCODA. 1 Publication1
    Natural variantiVAR_015661319R → Q in MOCODA. 1 PublicationCorresponds to variant rs104893969dbSNPEnsembl.1
    Natural variantiVAR_015662324G → E in MOCODA. 1 Publication1
    Natural variantiVAR_054827324G → R in MOCODA. 1 PublicationCorresponds to variant rs762253951dbSNPEnsembl.1
    Natural variantiVAR_056131390P → H.Corresponds to variant rs11969769dbSNPEnsembl.1
    Natural variantiVAR_061346452R → L.Corresponds to variant rs11969206dbSNPEnsembl.1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Alternative sequenceiVSP_0368211 – 87Missing in isoform 4 and isoform 7. 2 PublicationsAdd BLAST87
    Alternative sequenceiVSP_0368221 – 41MAARP…RAASE → MWKSWKLRTDVRVREGAGGS PCASSQPGSRGPCFLPGLSS Q in isoform 2 and isoform 8. 1 PublicationAdd BLAST41
    Alternative sequenceiVSP_0368231 – 41MAARP…RAASE → MWKSWKLRTDVR in isoform 3. CuratedAdd BLAST41
    Alternative sequenceiVSP_007439368 – 383Missing in isoform 6 and isoform 7. 2 PublicationsAdd BLAST16
    Alternative sequenceiVSP_036824368G → E in isoform 4. 1 Publication1
    Alternative sequenceiVSP_036825369 – 636Missing in isoform 4. 1 PublicationAdd BLAST268
    Alternative sequenceiVSP_036826384 – 385EL → GG in isoform MOCS1A, isoform 2 and isoform 3. 3 Publications2
    Alternative sequenceiVSP_036827386 – 636Missing in isoform MOCS1A, isoform 2 and isoform 3. 3 PublicationsAdd BLAST251

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AJ224328 mRNA. Translation: CAA11897.1.
    AJ224328 mRNA. Translation: CAA11898.1.
    AJ404969 Genomic DNA. Translation: CAC44526.1. Sequence problems.
    AJ293577, AJ293578, AJ293579 Genomic DNA. Translation: CAC44527.1.
    AF034374 mRNA. Translation: AAB87523.1.
    AF034374 mRNA. Translation: AAB87524.1. Sequence problems.
    AK300300 mRNA. Translation: BAG62053.1.
    AK056740 mRNA. Translation: BAG51799.1.
    AL136089 Genomic DNA. Translation: CAI20007.1. Sequence problems.
    AL136089 Genomic DNA. Translation: CAI20011.1.
    AL136089 Genomic DNA. Translation: CAI20012.1. Sequence problems.
    AL136089 Genomic DNA. Translation: CAI20013.1. Sequence problems.
    AL136089 Genomic DNA. Translation: CAI20014.1.
    AL136089 Genomic DNA. Translation: CAI20015.1.
    BC036839 mRNA. Translation: AAH36839.1.
    AF214022 mRNA. Translation: AAF67857.1.
    AF214023 mRNA. Translation: AAF67858.1.
    AY423726 mRNA. Translation: AAS00489.1. Different initiation.
    CCDSiCCDS43460.1. [Q9NZB8-5]
    CCDS4846.1. [Q9NZB8-6]
    RefSeqiNP_001068566.1. NM_001075098.3. [Q9NZB8-5]
    NP_005934.2. NM_005943.5. [Q9NZB8-6]
    XP_011512934.1. XM_011514632.2. [Q9NZB8-1]
    XP_011512935.1. XM_011514633.2. [Q9NZB8-2]
    UniGeneiHs.357128.
    Hs.718492.

    Genome annotation databases

    EnsembliENST00000340692; ENSP00000344794; ENSG00000124615. [Q9NZB8-1]
    ENST00000373181; ENSP00000362277; ENSG00000124615. [Q9NZB8-4]
    ENST00000373186; ENSP00000362282; ENSG00000124615. [Q9NZB8-6]
    ENST00000373188; ENSP00000362284; ENSG00000124615. [Q9NZB8-5]
    ENST00000373195; ENSP00000362291; ENSG00000124615. [Q9NZB8-7]
    ENST00000425303; ENSP00000416478; ENSG00000124615. [Q9NZB8-8]
    ENST00000432280; ENSP00000410809; ENSG00000124615. [Q9NZB8-3]
    GeneIDi4337.
    KEGGihsa:4337.
    UCSCiuc003opa.4. human. [Q9NZB8-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AJ224328 mRNA. Translation: CAA11897.1.
    AJ224328 mRNA. Translation: CAA11898.1.
    AJ404969 Genomic DNA. Translation: CAC44526.1. Sequence problems.
    AJ293577, AJ293578, AJ293579 Genomic DNA. Translation: CAC44527.1.
    AF034374 mRNA. Translation: AAB87523.1.
    AF034374 mRNA. Translation: AAB87524.1. Sequence problems.
    AK300300 mRNA. Translation: BAG62053.1.
    AK056740 mRNA. Translation: BAG51799.1.
    AL136089 Genomic DNA. Translation: CAI20007.1. Sequence problems.
    AL136089 Genomic DNA. Translation: CAI20011.1.
    AL136089 Genomic DNA. Translation: CAI20012.1. Sequence problems.
    AL136089 Genomic DNA. Translation: CAI20013.1. Sequence problems.
    AL136089 Genomic DNA. Translation: CAI20014.1.
    AL136089 Genomic DNA. Translation: CAI20015.1.
    BC036839 mRNA. Translation: AAH36839.1.
    AF214022 mRNA. Translation: AAF67857.1.
    AF214023 mRNA. Translation: AAF67858.1.
    AY423726 mRNA. Translation: AAS00489.1. Different initiation.
    CCDSiCCDS43460.1. [Q9NZB8-5]
    CCDS4846.1. [Q9NZB8-6]
    RefSeqiNP_001068566.1. NM_001075098.3. [Q9NZB8-5]
    NP_005934.2. NM_005943.5. [Q9NZB8-6]
    XP_011512934.1. XM_011514632.2. [Q9NZB8-1]
    XP_011512935.1. XM_011514633.2. [Q9NZB8-2]
    UniGeneiHs.357128.
    Hs.718492.

    3D structure databases

    ProteinModelPortaliQ9NZB8.
    SMRiQ9NZB8.
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi110480. 11 interactors.
    IntActiQ9NZB8. 1 interactor.
    STRINGi9606.ENSP00000362282.

    PTM databases

    iPTMnetiQ9NZB8.
    PhosphoSitePlusiQ9NZB8.

    Polymorphism and mutation databases

    BioMutaiMOCS1.
    DMDMi30913216.

    Proteomic databases

    MaxQBiQ9NZB8.
    PaxDbiQ9NZB8.
    PeptideAtlasiQ9NZB8.
    PRIDEiQ9NZB8.

    Protocols and materials databases

    DNASUi4337.
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000340692; ENSP00000344794; ENSG00000124615. [Q9NZB8-1]
    ENST00000373181; ENSP00000362277; ENSG00000124615. [Q9NZB8-4]
    ENST00000373186; ENSP00000362282; ENSG00000124615. [Q9NZB8-6]
    ENST00000373188; ENSP00000362284; ENSG00000124615. [Q9NZB8-5]
    ENST00000373195; ENSP00000362291; ENSG00000124615. [Q9NZB8-7]
    ENST00000425303; ENSP00000416478; ENSG00000124615. [Q9NZB8-8]
    ENST00000432280; ENSP00000410809; ENSG00000124615. [Q9NZB8-3]
    GeneIDi4337.
    KEGGihsa:4337.
    UCSCiuc003opa.4. human. [Q9NZB8-1]

    Organism-specific databases

    CTDi4337.
    DisGeNETi4337.
    GeneCardsiMOCS1.
    HGNCiHGNC:7190. MOCS1.
    HPAiHPA045783.
    HPA058177.
    MalaCardsiMOCS1.
    MIMi252150. phenotype.
    603707. gene.
    neXtProtiNX_Q9NZB8.
    OpenTargetsiENSG00000124615.
    Orphaneti308386. Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A.
    PharmGKBiPA30900.
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiKOG2876. Eukaryota.
    COG2896. LUCA.
    GeneTreeiENSGT00390000016567.
    InParanoidiQ9NZB8.
    KOiK03639.
    OMAiGWIHQIR.
    OrthoDBiEOG091G0HQS.
    PhylomeDBiQ9NZB8.
    TreeFamiTF300424.

    Enzyme and pathway databases

    UniPathwayiUPA00344.
    ReactomeiR-HSA-947581. Molybdenum cofactor biosynthesis.

    Miscellaneous databases

    GeneWikiiMOCS1.
    GenomeRNAii4337.
    PROiQ9NZB8.
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000124615.
    CleanExiHS_MOCS1.
    ExpressionAtlasiQ9NZB8. baseline and differential.
    GenevisibleiQ9NZB8. HS.

    Family and domain databases

    CDDicd01420. MoaC_PE. 1 hit.
    Gene3Di3.20.20.70. 1 hit.
    3.30.70.640. 1 hit.
    HAMAPiMF_01225_B. MoaA_B. 1 hit.
    MF_01224_B. MoaC_B. 1 hit.
    InterProiIPR013785. Aldolase_TIM.
    IPR006638. Elp3/MiaB/NifB.
    IPR023045. Mo_CF_biosynth-C.
    IPR023046. Mo_CF_biosynth-C_bac.
    IPR013483. MoaA.
    IPR000385. MoaA_NifB_PqqE_Fe-S-bd_CS.
    IPR010505. Mob_synth_C.
    IPR002820. Mopterin_CF_biosynth-C_dom.
    IPR007197. rSAM.
    [Graphical view]
    PfamiPF01967. MoaC. 1 hit.
    PF06463. Mob_synth_C. 1 hit.
    PF04055. Radical_SAM. 1 hit.
    [Graphical view]
    SMARTiSM00729. Elp3. 1 hit.
    [Graphical view]
    SUPFAMiSSF55040. SSF55040. 1 hit.
    TIGRFAMsiTIGR02666. moaA. 1 hit.
    TIGR00581. moaC. 1 hit.
    PROSITEiPS01305. MOAA_NIFB_PQQE. 1 hit.
    [Graphical view]
    ProtoNetiSearch...

    Entry informationi

    Entry nameiMOCS1_HUMAN
    AccessioniPrimary (citable) accession number: Q9NZB8
    Secondary accession number(s): B3KPT7
    , B4DTP1, O14940, O14941, O75710, Q5J7W0, Q5TCE1, Q5TCE2, Q5TCE6, Q5TCE9, Q5TCF0, Q5TCF1, Q8N418, Q9NZB7, Q9UEM1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 9, 2003
    Last sequence update: May 16, 2003
    Last modified: November 30, 2016
    This is version 144 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Miscellaneous

    The MOCS1 locus has initially been reported to produce MOCS1A and MOCS1B from non-overlapping reading frames within a bicistronic transcript. However, only isoform MOCS1A seems to be translated from the bicistronic transcript. Isoform MOCS1B seems to be translated from a monocistronic mRNA that is derived by alternative splicing.

    Caution

    The C-terminus of MOCS1A was previously believed to be thiocarboxylated, but it is now known not to be the case.1 Publication

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 6
      Human chromosome 6: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    Similar proteinsi

    Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
    100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
    90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
    50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.