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FLASH GENE

Symbol

CDHR1

contributors: mct - updated : 12-6-2009

HGNC name	cadherin-related family member 1
HGNC id	14550

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CORD15 cone-rod dystrophy 15
Location	10q23.1      Physical location : 85.954.411 - 85.979.374
Synonym name	photoreceptor cadherin
	MT-protocadherin
	protocadherin 21
Synonym symbol(s)	KIAA1775, DKFZp434A132, PRCAD, PCDH21

DNA

TYPE	functioning gene
STRUCTURE	22.61 kb     17 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_033100 17 - 5440 NP_149091 91.4 859 - Nakajima (2001) NM_001171971 - - 2698 NP_001165442 81.4 745 - -

EXPRESSION

Type	restricted

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 Nervous brain forebrain cerebral cortex     Homo sapiens Olfactory (smell) olfactory bulb       highly Homo sapiens Visual eye retina     highly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Nervous mitral cell Nervous tufted cell Visual cone photoreceptor Homo sapiens Visual rod photoreceptor Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a signal peptide
	six cadherin repeat domains
	an intracellular domain, which is not homologous to that of other cadherins
	a single transmembrane region
	a unique cytoplasmic region

conjugated

GlycoP

isoforms

Precursor

HOMOLOGY

interspecies

homolog to murine Prcad-pending

Homologene

FAMILY

cadherin superfamily of calcium-dependant cell-cell adhesion molecule

CATEGORY

adhesion

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	a possible role in the formation and maintenance of neuronal networks
	possible role for PROM1 and PCDH21 in macular degeneration (Yang 2008)
	involved in outer segment structure and/or assembly but not in phototransduction in rods and cones

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	ion Ca2+ binding

protein	interacting with PROM1 (Yang 2008)
	interaction between CDHR1 and PROM1 is necessary for both proteins to function normally

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CORD15

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	A PCDH21 knockout mouse model has previously shown loss of photoreceptor cells and abnormal cone and rod function
	In transgenic mice expressing R373C mutant human PROM1, both mutant and endogenous PROM1 were found throughout the layers of the photoreceptors, rather than at the base of the photoreceptor outer segments, where PROM1 is normally localized (Yang 2008)