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FLASH GENE

Symbol

PGM1

contributors: mct - updated : 24-02-2016

HGNC name	phosphoglucomutase 1
HGNC id	8905

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CDG1T congenital disorder of glycosylation, type 1T
Location	1p31.3      Physical location : 64.058.946 - 64.125.914
Synonym symbol(s)	GSD14
EC.number	5.4.2.2

DNA

TYPE	functioning gene
STRUCTURE	66.97 kb     11 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	pter - RH - (C8A C8A - D1S2 ) - PGM1 - cen pter - D1S19 - PGM1 - D1S22 - ACADM ACADM - cen
Authors	Pakstis (89), CEPH (91), Hoyheim (91)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002633 11 - 2487 NP_002624 - 562 - 1999 10738524 NM_001172818 11 - 2573 NP_001166289 - 580 - 1999 10738524 NM_001172819 11 - 2364 NP_001166290 - 365 - 1999 10738524

EXPRESSION

Type

widely

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 Cardiovascular heart         Digestive salivary gland           stomach         Reproductive female system uterus cervix       female system ovary       Skin/Tegument skin

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

monomer

HOMOLOGY

Homologene

FAMILY

phosphohexose mutase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	participating in both the breakdown and synthesis of glucose
	catalyzes the reversible conversion reaction between glucose-1-phosphate (G-1-P) and glucose-6-phosphate (G-6-P)
	is likely required for sustained cell growth during nutritional changes, probably through regulating the balance of G-1-P and G-6-P in order to satisfy the cellular demands during nutritional stress

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

carbohydrate

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	magnesium

protein

PGM1 bound to LDB3 at the domains encoded by exons 4 and 10, and LDB3 anchors PGM1 to Z-disc under conditions of stress

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CDG1T

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS