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FLASH GENE

Symbol

POMT1

contributors: mct/shn - updated : 02-07-2019

HGNC name	protein-O-mannosyltransferase 1
HGNC id	9202

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	LGMD2K limb-girdle muscular dystrophy 2K WLKWS1 Walker-Warburg syndrome 1
Location	9q34.1      Physical location : 134.378.288 - 134.399.192
Synonym name	dolichyl-phosphate-mannose--protein mannosyltransferase 1
	protein O-mannosyl-transferase 1
Synonym symbol(s)	RP11-334J6.2, LGMD2K, MDDGA1, MDDGB1, MDDGC1, RT
EC.number	2.4.1.109

DNA

TYPE	functioning gene
STRUCTURE	20.91 kb     20 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D9S1861 - D9S1863 - POMT1 - D9S179 - D9S1847 - qter
Authors	Jurado (99)
Text	[POMT1 ]

RNA

TRANSCRIPTS	type	messenger

text	several alternatively spliced isoforms, widely expressed (Jurado)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001136113 20 - 3320 NP_001129585 - 725 - 2010 19880378 NM_007171 20 splicing 3146 NP_009102 - 747 - 2010 19880378 NM_001077365 20 splicing 3080 NP_001070833 - 725 - 2010 19880378 NM_001077366 19 splicing 2928 NP_001070834 - 671 - 2010 19880378 NM_001136114 18 splicing 2821 NP_001129586 - 607 - 2010 19880378

EXPRESSION

Type	ubiquitous

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       highly Homo sapiens Digestive liver       lowly Homo sapiens Endocrine pancreas       moderately Homo sapiens Nervous brain       lowly Homo sapiens Reproductive female system placenta     lowly Homo sapiens Respiratory lung       lowly Homo sapiens Urinary kidney       moderately Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   highly Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text

brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	three MIR domain
	seven-transmembrane helices and four potential N-glycosylation sites

HOMOLOGY

interspecies	ortholog to Pomt1, Mus musculus
	ortholog to Pomt1, Rattus norvegicus
	ortholog to POMT1, Pan troglodytes
	ortholog to pomt1, Danio rerio

Homologene

FAMILY

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum

basic FUNCTION	putative integral constituent of the endoplasmic reticulum membrane involved in O-mannosylation of proteins (essential to the alpha- dystroglycan stability)
	POMT1 and POMT2 catalyzes the initial step of O-mannosyl glycan biosynthesis
	POMT1 and POMT2 have discrete functions since the effect of amino acid substitutions on enzymatic activity are different
	with POMT2, are responsible for the catalysis of the first step in O-mannosyl glycan synthesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	catalysis of the first step in O-mannosyl glycan synthesis

PATHWAY

metabolism

carbohydrate

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

Other	N-glycosylation of POMT1 and POMT2 is required for maintaining the conformation as well as the activity of the POMT1-POMT2 complex

ASSOCIATED DISORDERS

corresponding disease(s)

WLKWS1 , LGMD2K

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	homozygous Pomt1(-/-) mice suffer developmental arrest around embryonic day (E) 7.5 and die between E7.5 and E9.5 with defects in the formation of Reichert's membrane
	Amino acid substitution in POMT1 abolished enzymatic activity