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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	29926
Gene name Gene Name - the full gene name approved by the HGNC.	GDP-mannose pyrophosphorylase A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GMPPA
Synonyms (NCBI Gene) Gene synonyms aliases	AAMR
Disease Acronyms (UniProt) Disease acronyms from UniProt database	AAMR
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q35
Summary Summary of gene provided in NCBI Entrez Gene.	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

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 26871637, 31515488, 32296183, 32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0009058	Process	Biosynthetic process	IEA
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145

MIM	HGNC	e!Ensembl
615495	22923	ENSG00000144591

Protein

UniProt ID

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

Show/Hide Causal Diseases (9)

Disease term	Disease name	dbSNP ID	References
Causal
Alacrima, achalasia, and mental retardation syndrome	ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME	rs397518460, rs397518461, rs886037654, rs2125639654, rs1553624347	24035193
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Developmental regression	Developmental regression	rs1224421127
Glucocorticoid deficiency with achalasia	Glucocorticoid deficiency with achalasia	rs121918547, rs121918548, rs387906326, rs1565781382, rs121918549, rs121918550, rs1035139364, rs754637718, rs773601814, rs150511103, rs770214071, rs552637666, rs746305979, rs766542823, rs1592513048, rs758057774, rs758440592 View all (2 more)	24035193
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)
Palmoplantar keratoderma	Keratoderma, Palmoplantar	rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951 View all (10 more)

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text Mining
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)