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FLASH GENE

Symbol

GMPPA

contributors: mct - updated : 23-11-2013

HGNC name	GDP-mannose pyrophosphorylase A
HGNC id	22923

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AAMR Alacrima, achalasia, and mental retardation syndrome
Location	2q36.1      Physical location : 220.363.586 - 220.371.717
Synonym name	mannose-1-phosphate guanylyltransferase (GDP)
	hypothetical protein tmp_locus_11
EC.number	2.7.7.22/ 2.7.7.13

DNA

TYPE	functioning gene
STRUCTURE	8.13 kb     15 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_013335 13 - 1564 NP_037467 46 420 - 2013 24035193 NM_205847 13 - 1845 NP_995319 46 420 - 2013 24035193 differs in the 5'UTR compared to variant 1

EXPRESSION

Type

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive pharynx         Reproductive female system breast mammary gland       male system prostate

cell lineage
cell lines
fluid/secretion	blood, lymph

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a nucleotidyltransferase domain (AAs 3–19) shared by a wide range of enzymes that transfer nucleotides onto phosphosugars
	a hexapep domain (amino acids 286–319 likewise found in several members of the transferase families

HOMOLOGY

interspecies	homolog to murine Gmppa (97.6pc)
	homolog to rattus Gmppa (96.7pc)

Homologene

FAMILY

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION

basic FUNCTION

catalyzing the reaction which converts mannose-1-phosphate and GTP to GDP-mannose which is involved in the production of N-linked oligosaccharides

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	nucleotide,
	GTP binding

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

AAMR

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS