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MOCS1 Gene

protein-coding GIFtS: 57
GCID: GC06M039920

Molybdenum Cofactor Synthesis 1

See MOCS1-related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Molybdenum Cofactor Synthesis 1¹ ²		MOCOD²
Cell Migration-Inducing Gene 11 Protein² ³		Migration-Inducing Gene 11 Protein²
Molybdenum Cofactor Synthesis-Step 1 Protein A-B² ³		MOCS1A Enzyme²
MOCODA² ⁵		Molybdenum Cofactor Biosynthesis Protein 1²
MIG11²		Molybdenum Cofactor Biosynthesis Protein A²

External Ids:	HGNC: 7190¹	Entrez Gene: 4337²	Ensembl: ENSG00000124615⁷	OMIM: 603707⁵	UniProtKB: Q9NZB8³

Export aliases for MOCS1 gene to outside databases

Previous GC identifers: GC06M039875 GC06M039919 GC06M039975 GC06M039589

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MOCS1 Gene:

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, whose full-length natures have yet to be determined, 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, Jan 2010)

GeneCards Summary for MOCS1 Gene:

MOCS1 (molybdenum cofactor synthesis 1) is a protein-coding gene. Diseases associated with MOCS1 include molybdenum cofactor deficiency a, and molybdenum cofactor deficiency. GO annotations related to this gene include lyase activity and GTP binding.

UniProtKB/Swiss-Prot: MOCS1_HUMAN, Q9NZB8

Function: Isoform MOCS1A and isoform MOCS1B probably form a complex that catalyzes the conversion of 5'-GTP to

cyclic pyranopterin monophosphate (cPMP or molybdopterin precursor Z)

Gene Wiki entry for MOCS1 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:

Regulatory transcription factor binding sites in the MOCS1 gene promoter:
PPAR-gamma1 AML1a Olf-1 PPAR-gamma2 NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MOCS1 promoter sequence

Search Chromatin IP Primers for MOCS1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MOCS1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.3 Ensembl cytogenetic band: 6p21.2 HGNC cytogenetic band: 6p21.2

MOCS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MOCS1 gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06M039920: view genomic region (about GC identifiers)

Start:	39,867,354 bp from pter	End:	39,902,290 bp from pter
Size:	34,937 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MOCS1_HUMAN, Q9NZB8 (See protein sequence)

Recommended Name: Molybdenum cofactor biosynthesis protein 1

Size: 636 amino acids; 70105 Da

Cofactor: 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

Subunit: Isoform MOCS1A and isoform MOCS1B probably form a heterooligomer (Probable)

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

Sequence caution: Sequence=AAB87524.1; Type=Miscellaneous discrepancy; Note=Alternative splicing in the

MOCS1A-MOCS1B joining region; Sequence=AAS00489.1; Type=Erroneous initiation; Sequence=CAC44526.1;

Type=Miscellaneous discrepancy; Note=Alternative splicing in the MOCS1A-MOCS1B joining region;

Sequence=CAI20007.1; Type=Erroneous gene model prediction; Sequence=CAI20012.1; Type=Erroneous gene model

prediction; Sequence=CAI20013.1; Type=Erroneous gene model prediction;

Secondary accessions: B3KPT7 B4DTP1 O14940 O14941 O75710 Q5J7W0 Q5TCE1 Q5TCE2 Q5TCE6 Q5TCE9

Q5TCF0 Q5TCF1 Q8N418 Q9NZB7 Q9UEM1

Alternative splicing: 8 isoforms: Q9NZB8-1 Q9NZB8-5 Q9NZB8-6 Q9NZB8-3 Q9NZB8-4 Q9NZB8-2 Q9NZB8-7 Q9NZB8-8

(Multidomain protein with inactive MOCS1A and active MOCS1B)

Explore the universe of human proteins at neXtProt for MOCS1: NX_Q9NZB8

Explore proteomics data for MOCS1 at MOPED

Post-translational modifications:

Isoform MOCS1A, isoform 2 and isoform 3 are probably thiocarboxylated at their C-terminus. Thiocarboxylation

probably plays a central role in molybdenum cofactor biosynthesis, since mutagenesis of the last 2 Gly residues

of isoform MOCS1A abolishes the catalytic activity of the enzyme. Thiocarboxylation is absent in isoform MOCS1B,

which lacks the C-terminal Gly residue¹

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See MOCS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts):

NP_001068566.1 NP_005934.2

ENSEMBL proteins:

ENSP00000362277 ENSP00000362282 ENSP00000362284 ENSP00000362291 ENSP00000344794

ENSP00000416478 ENSP00000410809 ENSP00000418315 ENSP00000309843 ENSP00000362270

Reactome Protein details: Q9NZB8

MOCS1 Human Recombinant Protein Products:

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	Browse ProSpec Recombinant Proteins
	Cloud-Clone Corp. Proteins for MOCS1
	Search eBioscience for Proteins for MOCS1
	antibodies-online proteins for MOCS1 (33 products)
	antibodies-online peptides for MOCS1

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	antibodies-online antibodies for MOCS1 (21 products)

MOCS1 Assay Products:

	Browse Kits and Assays available from EMD Millipore
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	Cloud-Clone Corp. ELISAs for MOCS1 Cloud-Clone Corp. CLIAs for MOCS1
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	antibodies-online kits for MOCS1 (6 products)

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Selected InterPro protein domains (see all 9):

IPR013785 Aldolase_TIM

IPR013483 MoaA

IPR007197 rSAM

IPR023045 Mo_CF_biosynth-C

IPR010505 Mob_synth_C

Graphical View of Domain Structure for InterPro Entry Q9NZB8

ProtoNet protein and cluster: Q9NZB8

3 Blocks protein domains:

IPB000385 MoaA/nifB/pqqE family

IPB002820 Molybdopterin cofactor biosynthesis protein MoaC

IPB006638 Elongator protein 3/MiaB/NifB

UniProtKB/Swiss-Prot: MOCS1_HUMAN, Q9NZB8

Similarity: In the C-terminal section; belongs to the MoaC family

Similarity: In the N-terminal section; belongs to the MoaA/NifB/PqqE family

Find genes that share domains with MOCS1 About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: MOCS1_HUMAN, Q9NZB8

Function: Isoform MOCS1A and isoform MOCS1B probably form a complex that catalyzes the conversion of 5'-GTP to

cyclic pyranopterin monophosphate (cPMP or molybdopterin precursor Z)

Catalytic activity: GTP = cyclic pyranopterin phosphate + diphosphate

Genatlas biochemistry entry for MOCS1:

molybdenum cofactor synthesis,step 1,leading to precursor Z

Gene Ontology (GO): Selected molecular function terms (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003824	catalytic activity	--	--
GO:0005525	GTP binding	IEA	--
GO:0016829	lyase activity	--	--
GO:0046872	metal ion binding	IEA	--
GO:0051536	iron-sulfur cluster binding	--	--

Find genes that share ontologies with MOCS1 About GenesLikeMe

Phenotypes:
3 GenomeRNAi human phenotypes for MOCS1:

Decreased NANOG protein expres

Decreased OCT4 protein express

Decreased POU5F1-GFP protein e

5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Mocs1):

growth/size/body

homeostasis/metabolism

integument

mortality/aging

renal/urinary system

Find genes that share phenotypes with MOCS1 About GenesLikeMe

Animal Models:
MGI mouse knock-out Mocs1^tm1Jre for MOCS1

genOway: Develop your customized and physiologically relevant rodent model for MOCS1

miRNA Products:		miRTarBase miRNAs that target MOCS1: hsa-mir-320a (MIRT044828)

		Block miRNA regulation of human, mouse, rat MOCS1 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate MOCS1 (see all 75):
		hsa-miR-15a hsa-miR-485-3p hsa-miR-138-2* hsa-miR-4267 hsa-miR-3116 hsa-miR-200b hsa-miR-2113 hsa-miR-647

		SwitchGear 3'UTR luciferase reporter plasmid: MOCS1 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for MOCS1
		Predesigned siRNA for gene silencing in human, mouse, rat MOCS1

Gene Editing
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DNA2.0 Custom Protein Engineering Service for MOCS1

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		GenScript: all cDNA clones in your preferred vector (see all 2): MOCS1 (NM_005943)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for MOCS1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MOCS1

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		Browse ESI BIO Cell Lines and PureStem Progenitors for MOCS1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MOCS1

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS:

Compartment	Confidence
nucleus	5
cytosol	4

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Gene Ontology (GO): 3 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	NAS	9731530
GO:0005829	cytosol	TAS	--
GO:0019008	molybdopterin synthase complex	IEA	--

Find genes that share ontologies with MOCS1 About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for MOCS1 About

See pathways by source

Powered
by

SuperPath

Selected contained pathways About (see all per SuperPath)

Metabolism

Metabolism

0.38

Metabolic pathways

0.38

Defective BTD causes biotidinase deficiency

Defective BTD causes biotidinase deficiency	1.00	Defects in vitamin and cofactor metabolism	1.00
Defective MMAA causes methylmalonic aciduria type cblA	1.00	Defective MTR causes methylmalonic aciduria and homocystinuria type cblG	1.00
Defects in cobalamin (B12) metabolism	1.00	Defective GIF causes intrinsic factor deficiency	1.00
Defects in biotin (Btn) metabolism	1.00	Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE	1.00

Sulfur relay system

Sulfur relay system

Folate biosynthesis

Folate biosynthesis

Disease

Disease

Find genes that share SuperPaths with MOCS1 About GenesLikeMe

Pathways by source See SuperPaths
Show all pathways

1 Reactome Pathway for MOCS1

Molybdenum cofactor biosynthesis

3 Kegg Pathways (Kegg details for MOCS1):

	Folate biosynthesis
	Metabolic pathways
	Sulfur relay system

UniProtKB/Swiss-Prot: MOCS1_HUMAN, Q9NZB8

Pathway: Cofactor biosynthesis; molybdopterin biosynthesis

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for MOCS1
Interactions:

Search GeneGlobe Interaction Network for MOCS1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for MOCS1 (ENSP00000362282⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 71)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GCH1	ENSP00000378890⁴	STRING: ENSP00000378890
ADCY1	ENSP00000297323⁴	STRING: ENSP00000297323
ADCY10	ENSP00000356825⁴	STRING: ENSP00000356825
ADCY2	ENSP00000342952⁴	STRING: ENSP00000342952
ADCY3	ENSP00000260600⁴	STRING: ENSP00000260600

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Gene Ontology (GO): 5 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006766	vitamin metabolic process	TAS	--
GO:0006767	water-soluble vitamin metabolic process	TAS	--
GO:0006777	Mo-molybdopterin cofactor biosynthetic process	TAS	12754701
GO:0032324	molybdopterin cofactor biosynthetic process	TAS	--
GO:0044281	small molecule metabolic process	TAS	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for MOCS1

2 HMDB Compounds for MOCS1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Guanosine triphosphate	5'-GTP (see all 10)	86-01-1	--
S-Adenosylmethionine	(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)	29908-03-0	--

3 Novoseek inferred chemical compound relationships for MOCS1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
moco	95.4	5	9921896 (1), 9731530 (1), 10327149 (1), 12208140 (1) (see all 5)
molybdopterin	91.3	5	11891227 (3), 11095995 (1)
molybdenum	90.3	9	15180982 (1), 9921896 (1), 12533804 (1), 19544009 (1) (see all 8)

Find genes that share compounds with MOCS1 About GenesLikeMe

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for MOCS1 gene (4 alternative transcripts):

NM_001075098.3 NM_005943.5 NM_005942.3 NM_138928.3

11 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000373181 ENST00000373186(uc003opa.3 uc003opb.3) ENST00000373188

ENST00000373195 ENST00000340692 ENST00000425303 ENST00000432280 ENST00000473742

ENST00000487924 ENST00000308559(uc003opd.3 uc003ope.3) ENST00000373175

miRNA Products:		Block miRNA regulation of human, mouse, rat MOCS1 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate MOCS1 (see all 75):
		hsa-miR-15a hsa-miR-485-3p hsa-miR-138-2* hsa-miR-4267 hsa-miR-3116 hsa-miR-200b hsa-miR-2113 hsa-miR-647

		SwitchGear 3'UTR luciferase reporter plasmid: MOCS1 3' UTR sequence

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		QuantiFast Probe-based Assays in human, mouse, rat MOCS1

Selected AceView cDNA sequences (see all 143):

BM674470 BG818059 BQ575266 BM694201 AK125892 AF214022 AF034374 CA396934

AF214023 CA976127 BE302653 AK091770 AI810920 AU102242 AW073074 CR610341

AX747174 BM717089 BC036839 BQ345325 AU141382 AU100329 AA886744 AL570709

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for MOCS1 (see all 9) About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4a	·	4b	·	4c	·	4d	^	5a	·	5b	^	6	^	7	^	8a	·	8b	·	8c	^	9	^	10a	·	10b	^	11	^	12	^	13a	·	13b	^	14a	·	14b	·	14c
SP1:									-		-						-						-								-
SP2:																	-						-								-
SP3:									-		-		-		-		-						-								-												-		-
SP4:																															-														-
SP5:											-						-						-								-

ECgene alternative splicing isoforms for MOCS1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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MOCS1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GGCCATAGCC

About this image

MOCS1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database


Skeletal Muscle (Muscoskeletal System) fully expand to see all 2 entries
Mononuclear Myocytes Hyoid Arch Muscles

MOCS1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

MOCS1 Protein Expression

UniProtKB/Swiss-Prot: MOCS1_HUMAN, Q9NZB8

Tissue specificity: Isoform MOCS1A and isoform 2 are widely expressed

Custom PCR Arrays for MOCS1

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MOCS1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for MOCS1 gene from Selected species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Mocs1⁵	molybdenum cofactor synthesis 1	--		17 (25.45 cM) 49428362
chicken (Gallus gallus)	Aves	MOCS1⁶	molybdenum cofactor synthesis 1	46(a)	1 ↔ 1	3(28046781-28075053)
lizard (Anolis carolinensis)	Reptilia	MOCS1⁶	molybdenum cofactor synthesis 1	74(a)	1 ↔ 1	1(247216813-247266313)
zebrafish (Danio rerio)	Actinopterygii	mocs1¹	molybdenum cofactor synthesis 1	70.2(n) 77.88(a)		793471 NM_001105660.1 NP_001099130.1
fruit fly (Drosophila melanogaster)	Insecta	Mocs1⁶	Molybdenum cofactor synthesis 1 ortholog	35(a)	1 ↔ 1	3L(11063626-11066448)
worm (Caenorhabditis elegans)	Secernentea	F49E2.1a³	molybdenum cofactor biosynthesis protein	55(a) (best of 3)		X(9598498-9601218) --
rice (Oryza sativa)	Liliopsida	AK065402.1²	--	74.31(n)		AK065402.1

ENSEMBL Gene Tree for MOCS1 (if available)
TreeFam Gene Tree for MOCS1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for MOCS1 gene

Find genes that share paralogs with MOCS1 About GenesLikeMe

1 Pseudogenes.org Pseudogene for MOCS1
PGOHUM00000249122

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
VAR_054824⁴	Molybdenum cofactor deficiency, complementation group A (MOCODA)⁴	--	see VAR_054824	2	C G	mis⁴		0	--	--	--	--
VAR_054823⁴	Molybdenum cofactor deficiency, complementation group A (MOCODA)⁴	--	see VAR_054823	2	R W	mis⁴		0	--	--	--	--
VAR_054826⁴	Molybdenum cofactor deficiency, complementation group A (MOCODA)⁴	--	see VAR_054826	2	R W	mis⁴		0	--	--	--	--
VAR_015662⁴	Molybdenum cofactor deficiency, complementation group A (MOCODA)⁴	--	see VAR_015662	2	G E	mis⁴		0	--	--	--	--
VAR_015660⁴	Molybdenum cofactor deficiency, complementation group A (MOCODA)⁴	--	see VAR_015660	2	G D	mis⁴		0	--	--	--	--
VAR_054825⁴	Molybdenum cofactor deficiency, complementation group A (MOCODA)⁴	--	see VAR_054825	2	C F	mis⁴		0	--	--	--	--
VAR_015661⁴	Molybdenum cofactor deficiency, complementation group A (MOCODA)⁴	--	see VAR_015661	2	R Q	mis⁴		0	--	--	--	--
VAR_015658⁴	Molybdenum cofactor deficiency, complementation group A (MOCODA)⁴	--	see VAR_015658	2	R W	mis⁴		0	--	--	--	--
VAR_015659⁴	Molybdenum cofactor deficiency, complementation group A (MOCODA)⁴	--	see VAR_015659	2	G D	mis⁴		0	--	--	--	--
VAR_054827⁴	Molybdenum cofactor deficiency, complementation group A (MOCODA)⁴	--	see VAR_054827	2	G R	mis⁴		0	--	--	--	--

HapMap Linkage Disequilibrium report for MOCS1 (39867354 - 39902290 bp)

Structural Variations
Database of Genomic Variants (DGV) 2 variations for MOCS1: About this table

Variant ID	Type	Subtype	PubMed ID
esv2649617	CNV	Insertion	19546169
nsv512878	CNV	Insertion	21212237

Human Gene Mutation Database (HGMD): MOCS1

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing MOCS1

DNA2.0 Custom Variant and Variant Library Synthesis for MOCS1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 603707
OMIM disorders: 252150
UniProtKB/Swiss-Prot: MOCS1_HUMAN, Q9NZB8

Molybdenum cofactor deficiency, complementation group A (MOCODA) [MIM:252150]: An 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. Note=The disease is caused by mutations affecting the gene represented in this entry

5 diseases for MOCS1:
About MalaCards

molybdenum cofactor deficiency a molybdenum cofactor deficiency encephalomalacia sulfite oxidase deficiency

hyperekplexia

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1 Novoseek inferred disease relationship for MOCS1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
molybdenum cofactor deficiency	98.3	5	9921896 (1), 12533804 (1), 19544009 (1), 10701843 (1) (see all 5)

Genatlas disease: MOCS1

molybdenum cofactor deficiency,type A,fatal disorder characterized by severe seizures,profound neurological

abnormalities,and a combined deficiency of sulfite oxidase,xanthine dehydrogenase and aldehyde oxidase

Export disorders for MOCS1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for MOCS1 gene, integrated from 10 sources (see all 30):
(articles sorted by number of sources associating them with MOCS1)

Utopia: connect your pdf to the dynamic
world of online information

Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency. (PubMed id 9731530)^{1, 2, 3, 9} Reiss J.P.... Dierks T. (Nat. Genet. 1998)
Diverse splicing mechanisms fuse the evolutionarily conserved bicistronic MOCS1A and MOCS1B open reading frames. (PubMed id 10917590)^{1, 2, 9} Gray T.A. and Nicholls R.D. (RNA 2000)
Functionality of alternative splice forms of the first enzymes involved in human molybdenum cofactor biosynthesis. (PubMed id 11891227)^{1, 2, 9} Haenzelmann P.... Mendel R.R. (J. Biol. Chem. 2002)
The bicistronic MOCS1 gene has alternative start codons on two mutually exclusive exons. (PubMed id 12208140)^{1, 2, 9} Gross-Hardt S. and Reiss J. (Mol. Genet. Metab. 2002)
Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase. (PubMed id 16021469)^{1, 2, 9} Leimkuehler S.... Reiss J. (Hum. Genet. 2005)
Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH. (PubMed id 12754701)^{1, 2, 9} Reiss J. and Johnson J.L. (Hum. Mutat. 2003)
Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A. (PubMed id 9921896)^{1, 2, 9} Reiss J.P.... Dorche C. (Hum. Genet. 1998)
Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. (PubMed id 10053004)^{1, 3, 9} Reiss J....Zabot M.-T. (Am. J. Hum. Genet. 1999)
Characterization of MOCS1A, an oxygen-sensitive iron-sulfur protein involved in human molybdenum cofactor biosynthesis. (PubMed id 15180982)^{1, 2, 9} Haenzelmann P.... Schindelin H. (J. Biol. Chem. 2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 4337	HGNC: 7190	AceView: MOCS1	Ensembl:ENSG00000124615	euGenes: HUgn4337
ECgene: MOCS1	Kegg: 4337	H-InvDB: MOCS1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for MOCS1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MOCS1[genesymbol]

Intellectual Property for MOCS1 gene
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Patent Information for MOCS1 gene:
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