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FLASH GENE

Symbol

ROM1

contributors: npt/ - updated : 29-12-2006

HGNC name	retinal outer segment membrane protein 1
HGNC id	10254

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	1.97 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	cen - MS4A2 - PGA@ - ROM1 - SLC3A2 - PYGM PYGM - D11S146 - BCL1 - qter
Authors	Bascom (92)
Text	see PYGM

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 3 - 1894 isoform 1 37.1 351 - Bascom (1995)

EXPRESSION

Type

widely

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 mouth       highly Nervous nerve cranial nerve     highly Visual eye       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial sensory visual

cells

System Cell Pubmed Species Stage Rna symbol Visual cone photoreceptor Visual rod photoreceptor

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

homomer , dimer

HOMOLOGY

Homologene

FAMILY	RDS (peripherin)/ROM1 family
	PRPH2/ROM1 family

CATEGORY

receptor membrane

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane

basic FUNCTION	regulation of disk morphogenesis and viability of rod phosphoreceptors
	may function as an adhesion molecule involved in stabilization and compaction of outer segment disks

CELLULAR PROCESS

cell organization/biogenesis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

probably forms a complex with a RDS homodimer

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

related resource

Retinal Information Network

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       double heterozygotes mutation in RDS and ROM1 develop retinitis pigmentosa (Kajiwara 1994)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS