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FLASH GENE

Symbol

ILDR1

contributors: mct - updated : 18-03-2011

HGNC name	immunoglobulin-like domain containing receptor 1
HGNC id	28741

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DFNB42 neurosensory deafness 42
Location	3q21.1      Physical location : 121.706.170 - 121.741.030
Synonym symbol(s)	MGC50831, ILDR1beta, ILDR1alpha

DNA

TYPE	functioning gene
STRUCTURE	34.86 kb     7 Exon(s)

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_175924 7 - 2765 - 502 - 2004 15381095 NM_001199799 - - 2908 - 546 - 2004 15381095 NM_001199800 - - 2641 - 457 - 2004 15381095

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         Homo sapiens Digestive liver         Homo sapiens Endocrine pancreas         Homo sapiens Hearing/Equilibrium ear inner cochlea     Homo sapiens Reproductive male system prostate     highly Homo sapiens   male system testis       Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Hearing / Equilibrium hair cell receptor Homo sapiens

cell lineage
cell lines	myeloma, lymphoblastoma, and Hodgkin lymphoma cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a signal sequence
	an Ig-like extracellular domain
	a transmembrane region
	a dileucine motif
	an arginine-rich region
	predicted functional domains such as a cysteine-rich and an arginine-rich domain, an LSR (lipolysis stimulated lipoprotein receptor) domain
	a 14-3-3 binding site
	a C-terminal domain containing a cysteine-rich region

mono polymer

homomer , oligo

HOMOLOGY

interspecies

homolog to murine Ildr1 (81.4pc)

Homologene

FAMILY	family of Ig domain-containing proteins
	LISCH7 family

CATEGORY

receptor membrane

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic
text	ILDR1beta is cytosolic
	putative transmembrane receptor

basic FUNCTION	may be involved in lipoprotein transport
	may be playing an essential role in hearing in vertebrates

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DFNB42

Susceptibility

Variant & Polymorphism

Candidate gene	expression of ILDR1beta may be related to the development and/or progression of cancer
Marker
Therapy target

ANIMAL & CELL MODELS