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FLASH GENE

Symbol

GJB1

contributors: mct/npt/shn/pgu - updated : 04-04-2019

HGNC name	gap junction protein, beta 1, 32kDa
HGNC id	4283

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMTX1 Charcot-Marie-Tooth disease, type 1
Location	Xq13.1      Physical location : 70.435.061 - 70.445.065
Synonym name	gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)
	gap junction protein, beta 1, 32kDa (connexin 32)
	Charcot-Marie-Tooth neuropathy, X-linked
	connexin 32
	GAP junction 28 kDa liver protein
Synonym symbol(s)	CX32, CMTX, GJIC

DNA

TYPE	functioning gene
STRUCTURE	2.01 kb     2 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Binding site
text structure	SOX10 binding sites and EGR2 binding sites

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - DXS8052 - DXS8052 - GJB1 - DXS8030 - DXS8101 - qter

RNA

TRANSCRIPTS	type	messenger

text	variants 1 and 2 encode the same protein

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001097642 2 - 1623 NP_001091111 - 283 - 2007 17644736 NM_000166 2 - 1674 NP_000157 - 283 - 2007 17644736

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 Digestive intestine large intestine colon   highly   intestine small intestine     highly   liver       highly Homo sapiens Lymphoid/Immune spleen       highly Nervous brain       highly Homo sapiens Reproductive male system male genital tract epididymis   highly Homo sapiens Skin/Tegument skin       highly Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central white matter   highly Homo sapiens Nervous peripherous     highly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic mature hematopoietic Cardiovascular endothelial cell Nervous oligodendrocyte Homo sapiens Nervous Schawnn cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminal internal entry site
	four putative membrane spanning alpha helices, separating the N terminal intracellular domain
	two extracellular loops
	a C terminal intracellular domain, C-terminal domain that is likely not directly involved in the gating mechanism but acts as a modulator
	and dileucine-like motifs in the C-terminal tail of GJB1 control its endocytosis and assembly into gap junctions
	two targeting motifs at the N and C terminus
	a calcium binding site

mono polymer

hexamer

HOMOLOGY

interspecies	ortholog to Gjb1, Rattus norvegicus
	ortholog to Gjb1, Mus musculus
	ortholog to GJB1, Pan troglodytes

intraspecies

homolog to GJB2

Homologene

FAMILY	connexin family
	beta type subfamily

CATEGORY

signaling , transport channel

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	plays an important role in peripheral nerve
	potentially inducing axonopathy in CMTX1
	involved in the auditory pathway and in interactions axon Schwann cell with defective interaction
	involved in the calcium regulation by connexin 32 hemichannel
	plays roles in tumorigenesis and liver regeneration, and plays important roles in the maintenance of homeostasis in several tissue
	may modulate the endothelial function associated with a number of cardiovascular diseases
	protects endothelial cells from inflammation by regulating cytokine expression and plays an important role in the maintenance of vascular function
	is a fundamental protein in the PNS as its dysfunction cannot be compensated by other mechanisms

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

cell to cell transport

text	small molecule transport

PATHWAY

metabolism

signaling

a component	monomer constituent of the connexon (six subunits including GJA3, GJA8, GJB1, GJB2)
	exists in a complex with DLG1 and CALM1

INTERACTION

DNA

RNA

small molecule	metal binding,
	Ca2+

protein	gap junction protein beta 2 26kDa, GJB2; gap junction protein alpha 3 46kDa, GJA3; gap junction protein alpha 5 40kDa, GJA5; gap junction protein alpha 8 50kDa, GJA8
	occludin, OCLN
	link between its expression and NRG1 regulation of Schwann cells proliferation that does not involve GJB1-mediated intercellular communication
	GJA1-mediated GJB1 and SLC1A5 interaction play important functional roles in trophoblast cell fusion

cell & other

REGULATION

activated by

SOX10 in synergy with EGR2

Other	phosphorylated by EGFR
	phosphorylated by protein kinase A and protein kinase C

ASSOCIATED DISORDERS

corresponding disease(s)

CMTX1

related resource

The Connexin-deafness homepage

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS