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FLASH GENE

Symbol

STOM

contributors: mct - updated : 06-04-2011

HGNC name	stomatin
HGNC id	3383

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HHST1 hereditary hydrocytosis 1
Location	9q34.1      Physical location : 124.101.353 - 124.132.545
Synonym name	erythrocyte membrane protein band 7.2 (stomatin)
Synonym symbol(s)	EPB72, BND7, EPB7, BAN7

DNA

TYPE	functioning gene
STRUCTURE	31.19 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	with three alternative forms generated from alternative polyadenylation signals

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004099 7 - 3108 - 288 - 2000 10713127 NM_198194 3 - 2593 - 123 - 2000 10713127

EXPRESSION

Type

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 blood / hematopoietic spleen         Cardiovascular heart         Digestive liver         Nervous brain         Respiratory lung

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic erthrocyte Homo sapiens Blood/Hematopoietic platelet

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal putative transmembrane hydrophobic domain (1TM) followed by a bipartite region made of a beta sheet and an alpha helical structure
	a PHB domain
	a large cytoplasmic C terminal domain

HOMOLOGY

interspecies

homolog to murine Epb72

Homologene

FAMILY

BAND7/MEC2 family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytoskeleton
text	at the alpha-granular membrane
	stomatin, sorcin, and synexin were shown to locate mainly outside induced GM1 (ganglioside M1) patches in the human erythrocyte membrane

basic FUNCTION	playing a role in the organization and function of alpha granules
	integral membrane protein that is monotopically exposed on the cytoplasmic side of the membrane
	regulating membrane protein function by binding sterols, perhaps by altering their local lipid environment
	stomatin-specific, raft-based process is involved in storage-associated vesiculation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	binding cholesterol
	stomatin-actin association is important in maintaining the structure and in modulating the function of stomatin-containing membrane rafts in red cells
	STOML1 interacts with stomatin and is targeted to late endosomes (

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HHST1

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS