Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	29926
Gene name	GDP-mannose pyrophosphorylase A
Gene symbol	GMPPA
Synonyms (NCBI Gene)	AAMR
Chromosome	2
Chromosome location	2q35
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]

Show/Hide all (46)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020875	hsa-miR-155-5p	Proteomics	18668040
MIRT052838	hsa-miR-4326	CLASH	23622248
MIRT2003119	hsa-miR-1237	CLIP-seq
MIRT2003120	hsa-miR-1289	CLIP-seq
MIRT2003121	hsa-miR-1299	CLIP-seq
MIRT2003122	hsa-miR-1321	CLIP-seq
MIRT2003123	hsa-miR-1972	CLIP-seq
MIRT2003124	hsa-miR-2355-5p	CLIP-seq
MIRT2003125	hsa-miR-3119	CLIP-seq
MIRT2003126	hsa-miR-3128	CLIP-seq
MIRT2003127	hsa-miR-3160-5p	CLIP-seq
MIRT2003128	hsa-miR-3162-5p	CLIP-seq
MIRT2003129	hsa-miR-326	CLIP-seq
MIRT2003130	hsa-miR-330-5p	CLIP-seq
MIRT2003131	hsa-miR-3607-5p	CLIP-seq
MIRT2003132	hsa-miR-3663-5p	CLIP-seq
MIRT2003133	hsa-miR-378	CLIP-seq
MIRT2003134	hsa-miR-378b	CLIP-seq
MIRT2003135	hsa-miR-378c	CLIP-seq
MIRT2003136	hsa-miR-378d	CLIP-seq
MIRT2003137	hsa-miR-378e	CLIP-seq
MIRT2003138	hsa-miR-378f	CLIP-seq
MIRT2003139	hsa-miR-378h	CLIP-seq
MIRT2003140	hsa-miR-378i	CLIP-seq
MIRT2003141	hsa-miR-422a	CLIP-seq
MIRT2003142	hsa-miR-4304	CLIP-seq
MIRT2003143	hsa-miR-4419a	CLIP-seq
MIRT2003144	hsa-miR-4433	CLIP-seq
MIRT2003145	hsa-miR-4488	CLIP-seq
MIRT2003146	hsa-miR-4501	CLIP-seq
MIRT2003147	hsa-miR-4510	CLIP-seq
MIRT2003148	hsa-miR-4529-5p	CLIP-seq
MIRT2003149	hsa-miR-4638-3p	CLIP-seq
MIRT2003150	hsa-miR-4697-5p	CLIP-seq
MIRT2003151	hsa-miR-4707-5p	CLIP-seq
MIRT2003152	hsa-miR-4720-5p	CLIP-seq
MIRT2003153	hsa-miR-4728-5p	CLIP-seq
MIRT2003154	hsa-miR-4739	CLIP-seq
MIRT2003155	hsa-miR-4756-5p	CLIP-seq
MIRT2003156	hsa-miR-4768-5p	CLIP-seq
MIRT2003157	hsa-miR-4782-5p	CLIP-seq
MIRT2003158	hsa-miR-4785	CLIP-seq
MIRT2003159	hsa-miR-4799-3p	CLIP-seq
MIRT2003160	hsa-miR-516b	CLIP-seq
MIRT2003161	hsa-miR-665	CLIP-seq
MIRT2003162	hsa-miR-885-3p	CLIP-seq

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004475	Function	Mannose-1-phosphate guanylyltransferase (GTP) activity	IDA	33986552
GO:0004857	Function	Enzyme inhibitor activity	IDA	33986552
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 26871637, 31515488, 32296183, 32814053, 33961781
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006486	Process	Protein glycosylation	IEA
GO:0009100	Process	Glycoprotein metabolic process	IEA
GO:0009298	Process	GDP-mannose biosynthetic process	IEA
GO:0009890	Process	Negative regulation of biosynthetic process	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019673	Process	GDP-mannose metabolic process	IEA
GO:0019673	Process	GDP-mannose metabolic process	IEA
GO:0019673	Process	GDP-mannose metabolic process	IMP	33986552
GO:0019899	Function	Enzyme binding	IPI	33986552
GO:0021537	Process	Telencephalon development	IEA
GO:0045934	Process	Negative regulation of nucleobase-containing compound metabolic process	IEA
GO:0045936	Process	Negative regulation of phosphate metabolic process	IEA
GO:0048644	Process	Muscle organ morphogenesis	IEA
GO:0050890	Process	Cognition	IEA
GO:0050905	Process	Neuromuscular process	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0060538	Process	Skeletal muscle organ development	IEA
GO:0061744	Process	Motor behavior	IEA
GO:0062014	Process	Negative regulation of small molecule metabolic process	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0120508	Component	GDP-mannose pyrophosphorylase complex	IDA	33986552
GO:0140299	Function	Molecular sensor activity	IDA	33986552

MIM	HGNC	e!Ensembl
615495	22923	ENSG00000144591

Q96IJ6

Protein name

Mannose-1-phosphate guanylyltransferase regulatory subunit alpha (GDP-mannose pyrophosphorylase A) (GMPP-alpha) (GTP-mannose-1-phosphate guanylyltransferase alpha)

Protein function

Regulatory subunit of the GMPPA-GMPPB mannose-1-phosphate guanylyltransferase complex; reduces the catalytic activity of GMPPB when part of the complex (PubMed:24035193, PubMed:33986552). Mediates allosteric feedback inhibition of GMPPB catalyti

PDB

7D72 , 7D73 , 7D74

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00483	NTP_transferase	3 → 209	Nucleotidyl transferase	Family
PF00132	Hexapep	280 → 321	Bacterial transferase hexapeptide (six repeats)	Repeat

Tissue specificity

TISSUE SPECIFICITY: Expressed in fibroblasts (at protein level). {ECO:0000269|PubMed:24035193}.

Sequence

MLKAVILIGGPQKGTRFRPLSFEVPKPLFPVAGVPMIQHHIEACAQVPGMQEILLIGFYQ
PDEPLTQFLEAAQQEFNLPVRYLQEFAPLGTGGGLYHFRDQILAGSPEAFFVLNADVCSD
FPLSAMLEAHRRQRHPFLLLGTTANRTQSLNYGCIVENPQTHEVLHYVEKPSTFISDIIN
CGIYLFSPEALKPLRDVFQRNQQDGQLEDSPGLWPGAGTIRLEQDVFSALAGQGQIYVHL
TDGIWSQIKSAGSALYASRLYLSRYQDTHPERLAKHTPGGPWIRGNVYIHPTAKVAPSAV
LGPNVSIGKGVTVGEGVRLRESIVLHGATLQEHTCVLHSIVGWGSTVGRWARVEGTPSDP
NPNDPRARMDSESLFKDGKLLPAITILGCRVRIPAEVLILNSIVLPHKELSRSFTNQIIL

Sequence length

420

Interactions

View interactions

	KEGG
	Fructose and mannose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways Biosynthesis of cofactors Biosynthesis of nucleotide sugars

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Alacrima, achalasia, and intellectual disability syndrome	Likely pathogenic; Pathogenic	rs770582052, rs2125629897, rs1694593071, rs745806762, rs372628288, rs2546060637, rs1553624347, rs397518460, rs397518461, rs886037654, rs2125639654	RCV001638184 RCV001782205 RCV001822973 RCV003741295 RCV003741348 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chromosomal instability with tissue-specific radiosensitivity	Pathogenic	rs886037654	RCV004799180	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GMPPA-related disorder	Likely pathogenic; Pathogenic	rs747476158, rs372628288	RCV003402824 RCV003412179	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLUCOCORTICOID DEFICIENCY WITH ACHALASIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY, ALACRIMA, ACHALASIA SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRIPLE A SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRIPLE-A SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (27)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alacrima	Alacrima	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME	Alacrima, Achalasia, And Mental Retardation Syndrome	GENOMICS_ENGLAND_DG	24035193		★★★★★ ★☆☆☆☆ Found in Text Mining only
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME	Alacrima, Achalasia, And Mental Retardation Syndrome	UNIPROT_DG	24035193		★★★★★ ★☆☆☆☆ Found in Text Mining only
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME	Alacrima, Achalasia, And Mental Retardation Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME	Alacrima, Achalasia, And Mental Retardation Syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anterior hypopituitarism	Hypopituitarism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autonomic Nervous System Diseases	Autonomic nervous system disease	Pubtator	24035193	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	24035193, 35665995	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	35665995	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	9219076		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Achalasia	Esophageal achalasia	Pubtator	24035193, 35665995	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Achalasia	Achalasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glucocorticoid deficiency with achalasia	Glucocorticoid Deficiency With Achalasia	ORPHANET_DG	24035193		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	24035193, 35665995	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	9219076		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33791386	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple A syndrome	Triple A Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

GMPPA (GDP-mannose pyrophosphorylase A)