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FLASH GENE

Symbol

PCDHGB1

contributors: npt - updated : 16/10/2008

HGNC name	protocadherin gamma subfamily B, 1
HGNC id	8708

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	5q31.3      Physical location : 140.729.827 - 140.892.546
Synonym name	protocadherin, cadherin related neuronal receptor, gamma B1, in the gamma cluster
	protocadherin gamma subfamily B, 1, isoform 2
Synonym symbol(s)	PCDHVGB1, PCDH-GAMMA-B1, MGC119466, MGC119467, MGC119469

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem, component of a cluster
text	component of PCDHG@, subfamily B
STRUCTURE	162.72 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

text structure	the first large exon corresponding to the variable region B1 of the alpha cluster encodes the N terminal extracellular and transmembrane domains
	the three small last exons corresponding to the constant region of the alpha cluster encode the C terminal cytoplasmic domain (identical for each protein in the cluster)

MAPPING

cloned

Y

linked

Y

status

provisional

Map	cen - PCDHGA1 - PCDHGA2 - PCDHGA3 - PCDHGB1 - PCDHGA4 - PCDHGB2 - PCDHGA5 - PCDHGB3 - PCDHGA6 - PCDHGA7 - PCDHGB4 - PCDHGA8 - PCDHGB5 - PCDHGA9 - PCDHGB6 - PCDHGA10 - PCDHGB7 - PCDHGA11 - PCDHGA12 - PCDHGC3 - PCDHGC4 - PCDHGC5 - qter
Authors	Wu (01)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 - - 4590 101.2 927 - Wu variable region B1and constant region of gamma cluster variant 2 - - 2433 88 810 - Wu terminating downstream intron 1, putatively secreted

EXPRESSION

Type

widely

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       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a signal peptide
	six extracellular cadherin repeats
	a transmembrane segment encoded by a unique exon
	a cytoplasmic tail identical for each protein in the cluster

conjugated

GlycoP

HOMOLOGY

interspecies

homolog to murine Pcdhgb1 protocadherin gamma subfamily B,1

intraspecies

homolog to cadherin

Homologene

FAMILY	cadherin superfamily of calcium dependent cell-cell adhesion glycoproteins
	protocadherin subfamily

CATEGORY

adhesion , receptor membrane

SUBCELLULAR LOCALIZATION	plasma membrane,junction
text	integral membrane protein type I, localized at the synaptic junction

basic FUNCTION

cadherin-related neuronal receptor, putatively involved in the specificity of neuronal connections

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development , nervous system

text	playing a putative role in cell-cell interactions critical in the development of the central nervous system, mediating adhesion in synaptic junctions through lack-in process

PATHWAY

metabolism

signaling

neurotransmission

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	Ca2+

protein

cytoplasmic domain putatively connecting to intermediate filaments

cell & other

cells expressing the same protocadherin

REGULATION

ASSOCIATED DISORDERS

ANIMAL & CELL MODELS