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

129

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
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 RCV003582016 RCV000515501 RCV000074374 RCV000074375 RCV000074377 RCV000074378
Chromosomal instability with tissue-specific radiosensitivity	Pathogenic	rs886037654	RCV004799180
GMPPA-related disorder	Likely pathogenic; Pathogenic	rs747476158, rs372628288	RCV003402824 RCV003412179

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs111553864	RCV005896429
Cervical cancer	Benign	rs111553864	RCV005896430
Cholangiocarcinoma	Benign	rs62193808	RCV005923133
Gastric cancer	Benign	rs13428617, rs111553864	RCV005896354 RCV005896432
Hepatocellular carcinoma	Benign	rs13428617	RCV005896351
Lung cancer	Benign	rs13428617, rs111553864	RCV005896356 RCV005896435
Malignant lymphoma, large B-cell, diffuse	Benign	rs62193808	RCV005923130
Malignant tumor of esophagus	Benign	rs13428617	RCV005896352
Ovarian serous cystadenocarcinoma	Benign	rs13428617, rs111553864	RCV005896355 RCV005896433
Sarcoma	Benign	rs13428617, rs111553864	RCV005896353 RCV005896431
Thymoma	Benign	rs62193808	RCV005923132
Uterine carcinosarcoma	Benign	rs62193808, rs111553864	RCV005923131 RCV005896434
Uterine corpus endometrial carcinoma	Benign	rs62193808, rs111553864	RCV005923134 RCV005896436
Uveal melanoma	Benign	rs62193808	RCV005923129

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Achalasia Addisonianism Alacrimia syndrome	Associate	24035193, 35665995
Adenocarcinoma of Lung	Associate	30419062
Adrenal Insufficiency	Associate	24035193
Alacrima	Associate	24035193, 35665995
Autonomic Nervous System Diseases	Associate	24035193
Congenital Disorders of Glycosylation	Associate	24035193, 35665995
Developmental Disabilities	Associate	35665995
Esophageal Achalasia	Associate	24035193, 35665995
Gait Disorders Neurologic	Associate	24035193
Intellectual Disability	Associate	24035193, 35665995
Neurologic Manifestations	Associate	24035193
Stomach Neoplasms	Associate	33791386

GMPPA (GDP-mannose pyrophosphorylase A)