GMPPA (GDP-mannose pyrophosphorylase A)

2014-11-01 Affiliation

Identity

HGNC

GMPPA

LOCATION

2q35

LOCUSID

29926

ALIAS

AAMR

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 29926
MIM: 615495
HGNC: 22923
Ensembl: ENSG00000144591

Variants:

dbSNP: 29926
ClinVar: 29926
TCGA: ENSG00000144591
COSMIC: GMPPA

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000144591	ENST00000313597	Q96IJ6
ENSG00000144591	ENST00000313597	A0A024R482
ENSG00000144591	ENST00000341142	Q96IJ6
ENSG00000144591	ENST00000341142	A0A024R482
ENSG00000144591	ENST00000358215	Q96IJ6
ENSG00000144591	ENST00000358215	A0A024R482
ENSG00000144591	ENST00000373908	Q96IJ6
ENSG00000144591	ENST00000373908	A0A024R482
ENSG00000144591	ENST00000373917	Q96IJ6
ENSG00000144591	ENST00000435316	C9JAH0
ENSG00000144591	ENST00000443704	F8WD54
ENSG00000144591	ENST00000455657	C9J255
ENSG00000144591	ENST00000480034	A0A0U1RRC2
ENSG00000144591	ENST00000622191	A0A087WUI8

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Fructose and mannose metabolism	KEGG	ko00051
Amino sugar and nucleotide sugar metabolism	KEGG	ko00520
Fructose and mannose metabolism	KEGG	hsa00051
Amino sugar and nucleotide sugar metabolism	KEGG	hsa00520
Metabolic pathways	KEGG	hsa01100
Nucleotide sugar biosynthesis, eukaryotes	KEGG	hsa_M00361
Nucleotide sugar biosynthesis, eukaryotes	KEGG	M00361
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
Asparagine N-linked glycosylation	REACTOME	R-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	REACTOME	R-HSA-446193
Synthesis of substrates in N-glycan biosythesis	REACTOME	R-HSA-446219
Synthesis of GDP-mannose	REACTOME	R-HSA-446205

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
31898852	2020	Evidence of GMPPA founder mutation in indigenous Guatemalan population associated with alacrima, achalasia, and mental retardation syndrome.	3
31898852	2020	Evidence of GMPPA founder mutation in indigenous Guatemalan population associated with alacrima, achalasia, and mental retardation syndrome.	3
28574218	2017	A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.	5
28574218	2017	A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.	5
24035193	2013	Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.	20
24035193	2013	Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.	20

Citation

Dessen P

GMPPA (GDP-mannose pyrophosphorylase A)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63856