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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MOCS1 Gene

protein-coding GIFtS: 59
GCID: GC06M039920

molybdenum cofactor synthesis 1

Explore 10 diseases affiliated with
MOCS1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Molybdenum Cofactor Synthesis 1¹ ²		Migration-Inducing Gene 11 Protein²
MOCOD¹ ² ⁵		MOCS1A Enzyme²
Cell Migration-Inducing Gene 11 Protein² ³		Molybdenum Cofactor Biosynthesis Protein 1²
Molybdenum Cofactor Synthesis-Step 1 Protein A-B² ³		Molybdenum Cofactor Biosynthesis Protein A²
MIG11²

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

ORGUL members:
	NONCODE:n409104

Export aliases for MOCS1 gene to outside databases

Previous GC identifers: GC06M039875 GC06M039919 GC06M039975 GC06M039589

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MOCS1:

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)

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

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000006.11 NC_018917.1 NT_007592.15

Regulatory elements:

SABiosciences 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 SABiosciences Chromatin IP Primers for MOCS1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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

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

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9NZB8

MOCS1 Protein expression data from MOPED and PaxDb: About this image

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
Human Recombinant Protein Products for MOCS1:

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	Browse ProSpec Recombinant Proteins
	Uscn Proteins for MOCS1

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): 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	--

MOCS1 for ontologies About GeneDecksing

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Assay Products for MOCS1:

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	Uscn ELISAs and CLIAs for MOCS1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MOCS1 for domains About GeneDecksing

5/9 InterPro domains/families (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 families:

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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

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 monophosphate + diphosphate

Genatlas biochemistry entry for MOCS1:

molybdenum cofactor synthesis,step 1,leading to precursor Z

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003824	catalytic activity	--	--
GO:0005525	GTP binding	IEA	--
GO:0016829	lyase activity	IEA	--
GO:0046872	metal ion binding	IEA	--
GO:0051539	4 iron, 4 sulfur cluster binding	IEA	--

MOCS1 for ontologies About GeneDecksing

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

homeostasis/metabolism

integument

mortality/aging

renal/urinary system

MOCS1 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Mocs1^tm1Jre for MOCS1

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MOCS1

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		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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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MOCS1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Molybdenum cofactor biosynthesis

Molybdenum cofactor biosynthesis

1.00

Sulfur relay system

0.33

Vitamin B5 (pantothenate) metabolism

Metabolism of vitamins and cofactors

0.21

Metabolism of water-soluble vitamins and cofactors

0.21

Folate biosynthesis

Folate biosynthesis

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

4 Reactome Pathways for MOCS1

	Molybdenum cofactor biosynthesis
	Metabolism
	Metabolism of vitamins and cofactors
	Metabolism of water-soluble vitamins and cofactors

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

MOCS1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for MOCS1

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

5/68 Interacting proteins for MOCS1 (ENSP00000362282⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 68)

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

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): 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	--

MOCS1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

MOCS1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

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 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)

Search CenterWatch for drugs/clinical trials and news about MOCS1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MOCS1 gene (4 alternative transcripts):

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

Unigene Cluster for MOCS1:

Molybdenum cofactor synthesis 1

Hs.718492 [show with all ESTs]

Unigene Representative Sequence: NM_005943

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

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		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

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Additional cDNA sequence:

AF034374.1 AF214015.1 AF214022.1 AF214023.1 AJ224328.1 AK056740.1 AK091306.1 AK300300.1

AY423726.1 BC036839.1 NR_033233.1

10 DOTS entries:

DT.101983952 DT.97805401 DT.113416 DT.100719597 DT.95129518 DT.121366653 DT.97782304 DT.100735788

DT.95266002 DT.121366689

24/143 AceView cDNA sequences (see all 143):

AU141382 AL570709 AI810920 AU158894 CA976127 BM717089 BE302653 CR610341

AF214023 AA886744 BQ345325 AL695479 AL602617 AF034374 BM694201 CA944911

AU102241 AI122656 CA396934 AF214022 BM674470 AU102242 AK125892 BU931305

GeneLoc Exon Structure

5/9 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MOCS1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGCCATAGCC

About this image

MOCS1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Adipose

Visceral White Adipose

Adipose

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See MOCS1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MOCS1

SOURCE GeneReport for Unigene cluster: Hs.718492

UniProtKB/Swiss-Prot: MOCS1_HUMAN, Q9NZB8

Tissue specificity: Isoform MOCS1A and isoform 2 are widely expressed

SABiosciences Custom PCR Arrays for MOCS1

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In Situ
Assay Products:

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(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)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for MOCS1 gene from 9/26 species (see all 26) 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	F1N8A1_CHICK⁶	Uncharacterized protein	79(a)	1 ↔ 1	3(29908428-29939157)
lizard (Anolis carolinensis)	Reptilia	-- --	--	83(a) 79(a)	many → 1 many → 1	1(247232489-247238101) 1(247254660-247256457)
zebrafish (Danio rerio)	Actinopterygii	mocs1¹	molybdenum cofactor synthesis step-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) --
thale cress (Arabidopsis thaliana)	eudicotyledons	CNX2⁶	Molybdopterin biosynthesis protein CNX2	54(a)	1 ↔ 1	2(13584139-13586700)
rice (Oryza sativa)	Liliopsida	AK065402.1²	--	74.31(n)		AK065402.1
E. coli (Escherichia coli)	Gamma proteobacteria	moaA⁶	molybdopterin biosynthesis protein A	37(a)	1 ↔ 1	Chromosome(816267-817256)

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

MOCS1 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for MOCS1
PGOHUM00000249122

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104893970^1,2	C	pathogenic	74922147(-)	`ACCTGC/TGGATC`	5	R W	mis¹ int¹		1		NA	4412
rs104893969^1,2	C	pathogenic	74938064(-)	`CCTGCA/GAATCA`	5	Q R	mis¹		0	--	--	--	--
rs142042550^1,2	C,F	unknown	74924523(+)	`TCCTCG/AGGCAT`	5	/P	syn¹		1		NA	4540
rs41273134^1,2		--	39589488(+)	`TGAGGA/GCAAGA`	3	--	ds500¹		0	--	--	--	--
rs73414847^1,2	C,F	--	39589757(+)	`GAAGCT/CGTTCA`	3	--	ds500¹		4		WA CSA	124
rs79447033^1,2		--	39589769(+)	`GATACA/GTTTGA`	3	--	ds500¹		1		WA	118
rs73414848^1,2	C,F	--	39590018(+)	`TAATAG/CGTTGT`	3	--	nc-transcript-variantut3¹		4		WA CSA	124
rs73732316^1,2	C	--	39590037(+)	`CTTGCT/CTTCTT`	3	--	ut3¹ nc-transcript-variant		2		WA	120
rs3008816^1,2	C,A	--	39590053(+)	`CCTCCC/GCACTG`	3	--	nc-transcript-variantut3¹		2		CSA NA	121
rs7744483^1,2	A,H	--	39590645(+)	`aaattG/ATCTTT`	3	--	nc-transcript-variantut3¹		4		NS EA	406

HapMap Linkage Disequilibrium report for MOCS1 (39867354 - 39902290 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for MOCS1
3 CNVs: 81379 81378 93690
1 Indel: 99510
Human Gene Mutation Database (HGMD): MOCS1

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QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MOCS1

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(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.)
About This Section

MOCS1 for disorders           About GeneDecksing

OMIM gene information: 603707
OMIM disorders: 252150
UniProtKB/Swiss-Prot: MOCS1_HUMAN, Q9NZB8

Defects in MOCS1 are the cause of molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]; an

autosomal recessive disease which leads to the pleiotropic loss of all molybdoenzyme activities and is characterized

by severe neurological damage, neonatal seizures and early childhood death

10 diseases for MOCS1: About MalaCards

molybdenum cofactor deficiency molybdenum cofactor deficiency, type a molybdenum cofactor deficiency, type b sulfite oxidase deficiency

encephalomalacia autosomal recessive disease hyperekplexia seizures

tuberculosis mycobacterium tuberculosis

1 Novoseek 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 9 sources (see all 29):
(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. (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. (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. (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. (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. (2005)
Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH. (PubMed id 12754701)^{1, 2, 9} Reiss J. and Johnson J.L. (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. (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. (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. (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. (2004)

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

Query String		PubMed OMIM NCBI Bookshelf
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(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, and/or UniProtKB/TrEMBL,
Wikipedia and/or 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/sites/GeneTests/lab/gene/MOCS1

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Patent Information for MOCS1 gene:
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GeneCards and IP:
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