GMPPA - GDP-mannose pyrophosphorylase A Gene

Also Known as AAMR

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 29926

About GMPPA

Cytogenetic location: 2q35 Genomic coordinates (GRCh38): 2:219,498,891-219,506,989 (from NCBI)

This gene has 48 transcripts (splice variants), 216 orthologues, 3 paralogues and is associated with 4 phenotypes. Ubiquitous expression in thyroid (RPKM 13.3), prostate (RPKM 10.8) and 25 other tissues.

Summary

This gene is thought to encode a GDP-mannose pyrophosphorylase. This enzyme catalyzes the reaction which converts mannose-1-phosphate and GTP to GDP-mannose which is involved in the production of N-linked oligosaccharides. [provided by RefSeq, Jul 2008]

GMPPA Products (4)

mRNA	Protein	Name
NM_001374294.1	NP_001361223.1	mannose-1-phosphate guanyltransferase alpha
NM_001374295.1	NP_001361224.1	mannose-1-phosphate guanyltransferase alpha
NM_013335.4	NP_037467.2	mannose-1-phosphate guanyltransferase alpha
NM_205847.3	NP_995319.1	mannose-1-phosphate guanyltransferase alpha

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables enzyme binding	IPI IPI: Inferred from physical interaction	33986552	GOA
enables enzyme inhibitor activity	IDA IDA: Inferred from direct assay	33986552	GOA
NOT enables mannose-1-phosphate guanylyltransferase (GTP) activity	IDA IDA: Inferred from direct assay	33986552	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in GDP-mannose metabolic process	IMP IMP: Inferred from mutant phenotype	33986552	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of GDP-mannose pyrophosphorylase complex	IDA IDA: Inferred from direct assay	33986552	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

GMPPA Protein Structure

NTP_transferase

Hexapep

0
100
200
300
400
420 a.a.

Protein Preferred Names	Protein Names
mannose-1-phosphate guanyltransferase alpha	GMPP-alpha

GMPPA Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GMPPA	Q96IJ6	GTF3C3	Homo sapiens	Q9Y5Q9	Y2H Pooling	32814053
Intra	GMPPA	Q96IJ6	GTF3C3	Homo sapiens	Q9Y5Q9	Validated Y2H	32814053
Intra	GMPPA	Q96IJ6	GTF3C3	Homo sapiens	Q9Y5Q9	Y2H Array	32814053
Intra	GMPPA	Q96IJ6	BTC	Homo sapiens	P35070	Validated Y2H	25416956
Intra	GMPPA	Q96IJ6	BTC	Homo sapiens	P35070	Y2H Prey Pooling	25416956
Intra	GMPPA	Q96IJ6	GMPPB	Homo sapiens	Q9Y5P6	Y2H Prey Pooling	25416956
Intra	GMPPA	Q96IJ6	GMPPB	Homo sapiens	Q9Y5P6	Validated Y2H	32296183
Intra	GMPPA	Q96IJ6	GMPPB	Homo sapiens	Q9Y5P6	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

GMPPA Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P89700	GMPPA Antibody (YA9044)	WB, IP, ELISA	human, mouse, rat

Related Diseases

Diseases	Alias
Alacrima, Achalasia, And Mental Retardation Syndrome	AAMR Alacrima, Achalasia, And Intellectual Disability Syndrome Alacrima, Achalasia, And Impaired Intellectual Development Syndrome Intellectual Disability
Achalasia-Addisonianism-Alacrima Syndrome	Allgrove Syndrome Triple-A Syndrome Achalasia-Addisonianism-Alacrimia Syndrome Alacrima-Achalasia-Adrenal Insufficiency Neurologic Disorder Triple A Syndrome Aaa Syndrome AAAS Glucocorticoid Deficiency With Achalasia Glucocorticoid Deficiency And Achalasia Addisonian-Achalasia Syndrome Hypoadrenalism With Achalasia Alacrima-Achalasia-Addisonianism Aaa Acth-Resistant Adrenal Insufficiency, Achalasia And Alacrima Achalasia Addisonianism Alacrimia Syndrome Achalasia Alacrima Syndrome Addisonian Achalasia Syndrome Achalasia-Addisonian Syndrome Achalasia-Alacrima Syndrome 2a Syndrome 3a Syndrome 4a Syndrome Adrenal Insufficiency-Achalasia-Alacrima Syndrome Double A Syndrome Quaternary A Syndrome Acth-Resistant Adrenal Insufficiency With Achalasia And Alacrima Allgrove'S Syndrome Adrenal Gland Hypofunction Adrenal Cortical Hypofunction
Gastroesophageal Reflux	Gastroesophageal Reflux Disease Gerd GER Gastroesophageal Reflux, Pediatric Acid Reflux Gastresophageal Reflux Gastro-Esophageal Reflux Gerd - Gastro-Esophageal Reflux Disease
Achalasia	Cardiospasm Achalasia Of Cardia Esophageal Achalasia Hypertensive Lower Esophageal Sphincter Idiopathic Achalasia Achalasia Cardia Idiopathic Achalasia Of Esophagus Primary Achalasia Achalasia Of Esophagus Lack Of Reflex Relaxation Of Lower Oesophageal Sphincter Aperistalsis Of The Oesophagus Achalasia Of Oesophagus Oesophageal Achalasia Achalasia Nos Cardia Spasm Cardia Achalasia Oesophageal Cardiospasm Oesophagus Achalasia Reflex Cardiospasm
Anisocoria
Developmental And Epileptic Encephalopathy 42	DEE42 Epileptic Encephalopathy, Early Infantile, 42 Eiee42 Developmental And Epileptic Encephalopathy, 42 Early Infantile Epileptic Encephalopathy 42 Encephalopathy, Epileptic, Early Infantile, Type 42
Congenital Disorder Of Glycosylation, Type Iiq	CDG2Q Cdg Iiq Cdgiiq Congenital Disorder Of Glycosylation Type Iiq Cog2-Cdg Cog2-Related Congenital Disorder Of Glycosylation Cdgiidq Congenital Disorder Of Glycosylation 2q Cdg-Iiq
Developmental And Epileptic Encephalopathy 15	DEE15 Epileptic Encephalopathy, Early Infantile, 15 Eiee15 Developmental And Epileptic Encephalopathy, 15 Early Infantile Epileptic Encephalopathy 15 Encephalopathy, Epileptic, Early Infantile, Type 15 Early Infantile Epileptic Encephalopathy With Suppression Bursts X-Linked Infantile Spasm Syndrome
Ngly1-Deficiency	Deficiency Of N-Glycanase 1 Ngly1-Cddg Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome Ngly1 Deficiency Congenital Disorder Of Deglycosylation Congenital Disorder Of Glycosylation Type Iv Congenital Disorder Of Deglycosylation Cddg Congenital Disorder Of Glycosylation Type Iv Cdg1v
Congenital Disorder Of Glycosylation, Type Iin	CDG2N Slc39a8-Cdg Cdg Iin Congenital Disorder Of Glycosylation Type Iin Cdgiin Carbohydrate Deficient Glycoprotein Syndrome Type Iin Cdg Syndrome Type Iin Congenital Disorder Of Glycosylation Type 2n Cdg-Iin Cdgiidn Slc39a8 Deficiency Congenital Disorder Of Glycosylation 2n Glycosylation, Congenital Disorder Of, Type Iin
Congenital Disorder Of Glycosylation, Type Iii	CDG2I Congenital Disorder Of Glycosylation Type Iii Cdgiii Carbohydrate Deficient Glycoprotein Syndrome Type Iii Congenital Disorder Of Glycosylation Type 2i Cog5-Cdg Cdgiidi Congenital Disorder Of Glycosylation 2i Glycosylation, Congenital Disorder Of, Type Iii Congenital Disorder Of Glycosylation, Type I-Iix
Congenital Disorder Of Glycosylation, Type In	Congenital Disorder Of Glycosylation CDG1N Congenital Disorders Of Glycosylation Cdg In Cdgin Congenital Disorder Of Glycosylation 1n Carbohydrate-Deficient Glycoprotein Syndrome Cdg Rft1-Cdg Cdg-In Congenital Disorder Of Glycosylation Type In Carbohydrate Deficient Glycoprotein Syndrome Cdg Syndrome Congenital Disorder Of Glycosylation In Carbohydrate-Deficient Glycoprotein Syndromes Cdg Syndrome Type In Carbohydrate Deficient Glycoprotein Syndrome Type In Congenital Disorder Of Glycosylation Type 1n Man5glcnac2-Pp-Dol Flippase Deficiency Glycosylation, Congenital Disorder Of Glycosylation, Congenital Disorder Of, Type In
Walker-Warburg Syndrome	Hard Syndrome Walker-Warburg Congenital Muscular Dystrophy Cerebroocular Dysplasia-Muscular Dystrophy Syndrome Cod-Md Syndrome Chemke Syndrome Hydrocephalus, Agyria And Retinal Dysplasia Cerebroocular Dysgenesis Cerebroocular Dysplasia Muscular Dystrophy Syndrome Hard +/- E Syndrome Pagon Syndrome Warburg Syndrome Hydrocephalus, Agyria, And Retinal Dysplasia Mddga Muscular Dystrophy-Dystroglycanopathy , Type A Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A Hydrocephalus-Agyria-Retinal Dysplasia Syndrome Wws Dystrophy, Muscular, Dystroglycanopathy, Type A

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05524	GMPPA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20937	Gmppa Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27454	Gmppa Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	GMPPA	VGNC	VGNC:41292
Felis catus	GMPPA	VGNC	VGNC:62610
Bos taurus	GMPPA	VGNC	VGNC:29440
Macaca mulatta	GMPPA	VGNC	VGNC:72983
Mus musculus	GMPPA	MGD	MGI:1916330
Rattus norvegicus	GMPPA	RGD	RGD:1560644
Others	GMPPA	NCBI