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FLASH GENE

Symbol

OBSL1

contributors: mct/npt/pgu - updated : 03-06-2009

HGNC name	obscurin-like 1
HGNC id	29092

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	anonymous DNA segment
STRUCTURE	20.55 kb     21 Exon(s)

regulatory sequence

Binding site

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed OBSL1B - BC007201 - splicing 3316 AAH07201 130 1025 strongly expressed in the heart and placenta and expressed at lower levels across a broad range of tissues 2007 17289344 OBSL1A - variant 1 22 splicing 5841 isoform 1 207 1896 - 2007 17289344 a conserved splice donor site within this exon can be utilized to generate longer transcripts corresponding to OBSL1A OBSL1C - variant 3 - splicing 5523 isoform 3 170 1401 multiple noncardiac tissues 2007 17289344

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 Cardiovascular heart

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four tandem N-terminal immunoglobulin-like (Ig) domains
	a central fibronectin (Fn) domain
	three C-terminal Ig domains

HOMOLOGY

Homologene

FAMILY

UNC89/obscurin family

CATEGORY

adaptor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton
text	localizes to the intercalated discs and to the perinuclear region

basic FUNCTION	primary function is to interact with one or, more likely, multiple other proteins to stabilize cytoskeletal structures and/or scaffold signaling complexes
	likely functioning as a cytoskeletal linker, positioning and stabilizing cell contacts and organelles within the cytoskeletal framework
	likely having similarly important roles in striated muscle structure and function
	cytoskeletal adptor protein, that may have a role in the maintenance of normal level of CUL7
	required for the morphogenesis of the Golgi apparatus and the elaboration of dendrites
	OBSL1-regulated CUL7/FBXW8 ubiquitin signaling mechanism that orchestrates the morphogenesis of the Golgi apparatus and patterning of dendrites

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

OBSL1 forms a physical complex with the scaffold protein CUL7 and thereby localizes CUL7 at the Golgi apparatus

INTERACTION

DNA

RNA

small molecule

protein	interactions with titin, Myomesin and ankyrin
	head-to-tail interaction of the C-terminus of titin and the N-terminus of obscurin-like-1(OBSL1)
	physical interaction of OBSL1 with both CUL7 and CCDC8 and its potential role in the regulation of CUL7 expression suggesting all three proteins are members of the same growth-regulatory pathway

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

GFS2

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS