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FLASH GENE

Symbol

DYM

contributors: mct - updated : 29/11/2008

HGNC name	dymeclin
HGNC id	21317

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DMC Dyggve-Melchior-Clausen syndrome SMCD Smith-McCort dysplasia
Location	18q21.1      Physical location : 46.570.171 - 46.987.079
Synonym name	Dyggve-Melchior-Clausen syndrome protein
Synonym symbol(s)	FLJ20130, FLJ20071, SMC, DMC

DNA

TYPE	functioning gene
STRUCTURE	416.91 kb     17 Exon(s)

regulatory sequence

Promoter

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_017653 17 - 2628 NP_060123 76 669 - 2002 12161821

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)

cells

System Cell Pubmed Species Stage Rna symbol not specific chondrocyte not specific fibroblast

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal

Text	brain, widely in embryo
	prominent head and cartilage DYM expression during early development

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	6 transmembrane segments
	a putative N-myristoylation site
	30 to 36 dileucine motifs

conjugated

GlycoP

HOMOLOGY

interspecies

ortholog to murine Dym

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic
	intracellular,nuclear envelope
text	located in multiple cellular compartments
	not an integral membrane protein of the ER, but rather a peripheral membrane protein dynamically associated with the Golgi apparatus
	localizes to the cytosol and Golgi
	PPIB colocalized with Dymeclin and displayed a perinuclear distribution, likely aggregating within Golgi and/or ER structures

basic FUNCTION	may be involved in proteoglycans metabolism and in intracellular digestion of proteins
	involved in Golgi organization and intracellular vesicle traffic
	could influence vesicle traffic at a number of levels, including the budding, movement, sorting, and fusion of vesicle membranes, possibly by acting as a membrane-spanning adaptor and could also play a direct role in Golgi organization
	peripheral nonanchored Golgi protein capable of shuttling between cellular compartments

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	associates with multiple cellular proteins involved in vesicular traffic
	GOLM1 and PPIB are interacting partner (role of Dymeclin in secretory pathways essential to endochondral bone formation during early development)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DMC , SMCD

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS