MOCS1 - molybdenum cofactor synthesis 1 Gene

Homo sapiens

Also known as MIG11; MOCOD; MOCS1A; MOCS1B

Gene ID: 4337 | Gene type: protein coding

About MOCS1

Cytogenetic location: 6p21.2 Genomic coordinates (GRCh38): 6:39,904,170-39,934,462 (from NCBI)

This gene has 9 transcripts (splice variants), 211 orthologues and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 21.7), placenta (RPKM 14.9) and 24 other tissues.

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]

MOCS1 Products(7)

mRNA	Protein	Name
NM_001075098.4	NP_001068566.1	molybdenum cofactor biosynthesis protein 1 isoform 4
NM_001358529.2	NP_001345458.1	molybdenum cofactor biosynthesis protein 1 isoform 6
NM_001358530.2	NP_001345459.1	molybdenum cofactor biosynthesis protein 1 isoform 7
NM_001358531.2	NP_001345460.1	molybdenum cofactor biosynthesis protein 1 isoform 8
NM_001358533.2	NP_001345462.1	molybdenum cofactor biosynthesis protein 1 isoform 9
NM_001358534.2	NP_001345463.1	molybdenum cofactor biosynthesis protein 1 isoform 9
NM_005943.6	NP_005934.2	molybdenum cofactor biosynthesis protein 1 isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables 4 iron, 4 sulfur cluster binding	IDA IDA: Inferred from direct assay	15180982	GOA
enables GTP 3',8'-cyclase activity	IMP IMP: Inferred from mutant phenotype	15180982	GOA
enables cyclic pyranopterin monophosphate synthase activity	IMP IMP: Inferred from mutant phenotype	15180982	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in Mo-molybdopterin cofactor biosynthetic process	IDA IDA: Inferred from direct assay	15180982	GOA
involved in Mo-molybdopterin cofactor biosynthetic process	IMP IMP: Inferred from mutant phenotype	9731530	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MOCS1 Protein Structure

Radical_SAM

Fer4_12

Mob_synth_C

MoaC

0
100
200
300
400
500
600
636 a.a.

Protein Preferred Names

Protein Names

molybdenum cofactor biosynthesis protein 1

MOCS1A enzyme

Related Diseases

Diseases

Alias

Molybdenum Cofactor Deficiency, Complementation Group A

MOCODA	Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type A
Molybdenum Cofactor Deficiency A	Molybdenum Cofactor Deficiency Type A
Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type A	Mocod Type A
Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase	Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase, Combined Deficiency Of
Molybdenum Cofactor Deficiency Complementation Group A	Molybdenum Cofactor Deficiency, Type A
Deficiency, Molybdenum Cofactor, Complementation Group A

Molybdenum Cofactor Deficiency

Combined Molybdoflavoprotein Enzyme Deficiency	Mocod
Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase	Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase
Combined Xanthine Oxidase And Sulfite Oxidase And Aldehyde Oxidase Deficiency	Deficiency Of Molybdenum Cofactor
Deficiency, Molybdenum Cofactor

Encephalomalacia

Sulfite Oxidase Deficiency, Isolated

Sulfite Oxidase Deficiency	Sulfocysteinuria
Isolated Sulfite Oxidase Deficiency	ISOD
Encephalopathy Due To Sulfite Oxidase Deficiency

Molybdenum Cofactor Deficiency, Complementation Group B

MOCODB	Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type B
Molybdenum Cofactor Deficiency B	Molybdenum Cofactor Deficiency Type B
Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type B	Mocod Type B
Molybdenum Cofactor Deficiency Complementation Group B	Deficiency, Molybdenum Cofactor, Complementation Group B

Hyperekplexia

Hereditary Hyperekplexia	Kok Disease
Congenital Stiff Man Syndrome	Familial Startle Disease
Sthe	Stiff-Baby Syndrome
Hereditary Hyperexplexia	Startle Disease
Exaggerated Startle Reaction	Hyperexplexia Hereditary
Startle Disease, Familial	Startle Reaction, Exaggerated
Stiff-Man Syndrome, Congenital	Stiff-Person Syndrome, Congenital
Congenital Stiff-Man Syndrome	Congenital Stiff-Person Syndrome
Familial Hyperekplexia	Startle Syndrome
Stiff Baby Syndrome	Hyperekplexia, Hereditary
Stiff-Person Syndrome

Molybdenum Cofactor Deficiency, Complementation Group C

MOCODC	Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type C
Molybdenum Cofactor Deficiency C	Molybdenum Cofactor Deficiency Type C
Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type C	Mocod Type C
Molybdenum Cofactor Deficiency Complementation Group C	Deficiency, Molybdenum Cofactor, Complementation Group C

Wiedemann-Steiner Syndrome

WDSTS	Hairy Elbows, Short Stature, Facial Dysmorphism, And Developmental Delay
Hypertrichosis-Short Stature-Facial Dysmorphism-Developmental Delay Syndrome	Wiedemann Grosse Dibbern Syndrome
Kmt2a-Related Neurodevelopmental Disorder	Hairy Elbows Short Stature Facial Dysmorphism And Developmental Delay
Hypertrichosis Cubiti Facial Dysmorphism And Developmental Delay	Wss
Growth Deficiency And Mental Retardation With Facial Dysmorphism

Biotinidase Deficiency

Late-Onset Multiple Carboxylase Deficiency	BTD DEFICIENCY
Multiple Carboxylase Deficiency, Late-Onset	Multiple Carboxylase Deficiency, Juvenile-Onset
Juvenile-Onset Multiple Carboxylase Deficiency	Biotin Deficiency
Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency	Deficiency Of Biotinidase
Biot	Carboxylase Deficiency, Multiple, Late-Onset
Late-Onset Mcd	Mcd Juvenile Form
Biotin Deficiency Disease

Epilepsy, Early-Onset, Vitamin B6-Dependent

EPVB6D

Early-Onset Vitamin B6-Dependent Epilepsy

Xanthinuria

Xanthine Dehydrogenase Deficiency	Xanthine Oxidase Deficiency
Hereditary Xanthinuria	Xanthic Urolithiasis
Xanthine Stone Disease	Xanthinuria, Type I
Combined Deficiency Of Xanthine Dehydrogenase And Aldehyde Oxidase	Xdh Deficiency
Classic Xanthinuria	Xanthinuria, Type Ii
Classical Xanthinuria	Xanthine Calculus

Combined Oxidative Phosphorylation Deficiency 23

COXPD23	Combined Oxidative Phosphorylation Defect Type 23
Oxidative Phosphorylation Deficiency, Combined, Type 23

D-Glyceric Aciduria

D-Glyceric Acidemia	D-Glycericacidemia
Glycerate Kinase Deficiency	D-Glycerate Kinase Deficiency
Non Ketotic Hyperglycinemia Syndrome	Deficiency Of Glycerate Kinase
Hyperglycinemia, Non-Ketotic	D-GA

Gonadal Dysgenesis

Gonadal Dysgenesis Syndrome

Turner Syndrome

Multiple Carboxylase Deficiency

Mcd	Holocarboxylase Synthetase Deficiency

Cerebral Creatine Deficiency Syndrome 2

Guanidinoacetate Methyltransferase Deficiency	Gamt Deficiency
Creatine Deficiency Syndrome Due To Gamt Deficiency	Deficiency Of Guanidinoacetate Methyltransferase
CCDS2	Guanidinoacetate Methyltransferase Deficiency
Deficiency, Cerebral Creatine, Syndrome, Type 2	Language Development Disorders

Metal Metabolism Disorder

Metal Metabolism, Inborn Errors

Inborn Metal Metabolism Disorder

Methylmalonic Aciduria And Homocystinuria, Cblc Type

MAHCC	Vitamin B12 Metabolic Defect With Combined Deficiency Of Methylmalonyl-Coa Mutase And Homocysteine:Methyltetrahydrofolate Methyltransferase
Methylmalonic Aciduria And Homocystinuria, Cblc Type, Digenic	Methylmalonic Aciduria And Homocystinuria Type Cblc
Cobalamin C Disease	Methylmalonic Acidemia With Homocystinuria Cblc
Methylmalonic Acidemia And Homocystinuria, Cblc Type	Methylmalonic Aciduria And Homocystinuria, Vitamin B12-Responsive
Cobalamin C Deficiency	Methylmalonic Acidemia With Homocystinuria, Type Cblc
Cblc Defect	Cobalamin C Defect
Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblc	Methylmalonic Aciduria With Homocystinuria, Type Cblc
Methylmalonic Acidemia And Homocystinuria Cblc Type	Methylmalonic Aciduria And Homocystinuria Vitamin B12-Responsive
Aciduria, Methylmalonic, And Homocystinuria, Cblc Type	Methylmalonic Acidemia With Homocystinuria

Cerebral Creatine Deficiency Syndrome 1

Creatine Transporter Deficiency	Creatine Transporter Defect
Slc6a8 Deficiency	X-Linked Creatine Deficiency Syndrome
CCDS1	Creatine Deficiency Syndrome, X-Linked
X-Linked Creatine Deficiency	Creatine Deficiency, X-Linked
X-Linked Creatine Transporter Deficiency	Mental Retardation, X-Linked, With Seizures, Short Stature, And Midface Hypoplasia
Mental Retardation, X-Linked, With Creatine Transport Deficiency	Intellectual Disability, X-Linked With Seizures, Short Stature And Midface Hypoplasia
Intellectual Disability, X-Linked, With Creatine Transport Deficiency	Slc6a8-Related Creatine Transporter Deficiency
Deficiency, Cerebral Creatine, Syndrome, Type 1

Epilepsy, Pyridoxine-Dependent

Pyridoxine-Dependent Epilepsy	PDE
Pyridoxine Dependency With Seizures	Vitamin B6-Dependent Seizures
EPD	Aasa Dehydrogenase Deficiency
Antiquitin Deficiency	Pyridoxine Dependency
Glutamate Decarboxylase Deficiency	Pyridoxine-Dependent Seizures
Deficiency Of Glutamate Decarboxylase

Cerebral Creatine Deficiency Syndrome

Deficiency, Cerebral Creatine, Syndrome

Peroxisome Biogenesis Disorder 1b

Peroxisome Biogenesis Disorder	Infantile Refsum Disease
Infantile Phytanic Acid Storage Disease	PBD1B
Refsum Disease, Infantile	Adrenoleukodystrophy, Autosomal Neonatal
Ird	Mild Pbd-Zsd
Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder	Pbd-Zsd
Peroxisome Biogenesis Disorder Spectrum	Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Autosomal Neonatal Adrenoleukodystrophy	Refsum Disease Infantile
Peroxisome Biogenesis Disorders	Peroxisome Biogenesis Disorder, Type 1b

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08580	MOCS1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	MOCS1	RGD	RGD:1308471
Mus musculus	MOCS1	MGD	MGI:1928904
Bos taurus	MOCS1	VGNC	VGNC:54229
Felis catus	MOCS1	VGNC	VGNC:102464
Macaca mulatta	MOCS1	VGNC	VGNC:107110
Canis familiaris	MOCS1	VGNC	VGNC:57225

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