MOCS1 - molybdenum cofactor synthesis 1 Gene

Also Known as MIG11; MOCOD; MOCS1A; MOCS1B

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4337

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	References	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	References	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

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 Set	/	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
Others	MOCS1	NCBI