Reactome | GJB1 [endoplasmic reticulum membrane]

GJB1 [endoplasmic reticulum membrane]

Stable Identifier

R-HSA-190656

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

endoplasmic reticulum membrane

Synonyms

Connexin 32

Locations in the PathwayBrowser for interactor UniProt:P43378 PTPN9

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External Reference Information

External Reference

UniProt:P08034 GJB1

Gene Names

GJB1, CX32

Chain

chain:1-283

Reference Genes

BioGPS Gene:2705 GJB1

COSMIC (genes):GJB1 GJB1

CTD Gene:2705 GJB1

dbSNP Gene:2705 GJB1

ENSEMBL:ENSG00000169562 GJB1

HGNC:4283 GJB1

KEGG Gene (Homo sapiens):2705 GJB1

Monarch:2705 GJB1

NCBI Gene:2705 GJB1

OMIM:304040 GJB1

UCSC:P08034 GJB1

Reference Transcript

Other Identifiers

0004210685

11724864_a_at

12994

17104656

1TXH

204973_at

2705

39598_at

3980868

3980869

3980870

3980871

3980872

3980873

3980874

3980875

3980876

3980877

5KK9

8168274

A0A2R8YD01

A_14_P132908

A_23_P250444

A_24_P404840

AAA75086

AAH02805

AAH22426

AAH39198

AAV38136

AK313474

BAG36259

BC002805

BC022426

BC039198

BT019329

C9JWU8

CAA27856

CAB012994

CCDS14408

CH471132

EAX05305

EAX05306

ENSG00000169562

ENSP00000354900

ENSP00000363141

ENSP00000494596

ENSP00000495960

ENST00000361726

ENST00000361726.6

ENST00000374029

ENST00000374029.1

ENST00000646835

ENST00000646835.1

ENST00000647424

ENST00000647424.1

EntrezGene:2705

EntrezGene:GJB1

g4504004_3p_at

GE59657

GJB1

GJB1-201

GJB1-202

GJB1-205

GJB1-206

GO:0000003

GO:0003674

GO:0005243

GO:0005575

GO:0005622

GO:0005623

GO:0005737

GO:0005783

GO:0005789

GO:0005886

GO:0005921

GO:0005922

GO:0006810

GO:0007154

GO:0007267

GO:0007399

GO:0008150

GO:0015868

GO:0016020

GO:0016021

GO:0016264

GO:0016328

GO:0022607

GO:0022857

GO:0030054

GO:0032991

GO:0034330

GO:0042803

GO:0043226

GO:0048856

GO:0051259

GO:0055085

GO:0065003

GO:1905867

HGNC:4283

ILMN_1799535

IPR000500

IPR002267

IPR013092

IPR017990

IPR019570

IPR038359

L47127

LRG_245

LRG_245t1

MIM:302800

MIM:304040

NM_000166

NM_001097642

NP_000157

NP_001091111

PF00029

PH_hs_0016322

PH_hs_0040104

PR00206

PR01138

SM00037

SM01089

TC0X000384.hg

UPI0000001C7E

X04325

X04325_at

XM_011530907

XP_011529209

Participant Of

hasComponent

Connexin 32 connexon [endoplasmic reticulum membrane]

input

Connexin oligomerization in endoplasmic reticulum membrane

output

Synthesis of GJB1 (Cx32)

hasCandidate

Cx26/Cx32 [endoplasmic reticulum membrane]

Other forms of this molecule

GJB1 [endoplasmic reticulum-Golgi intermediate compartment]

Inferred To

GJB1 [endoplasmic reticulum membrane] (Bos taurus)

GJB1 [endoplasmic reticulum membrane] (Canis familiaris)

GJB1 [endoplasmic reticulum membrane] (Danio rerio)

GJB1 [endoplasmic reticulum membrane] (Gallus gallus)

GJB1 [endoplasmic reticulum membrane] (Mus musculus)

GJB1 [endoplasmic reticulum membrane] (Rattus norvegicus)

GJB1 [endoplasmic reticulum membrane] (Sus scrofa)

GJB1 [endoplasmic reticulum membrane] (Xenopus tropicalis)

Cross References

RefSeq

NP_000157.1, XP_011529209.1, NP_001091111.1, XP_016884897.1

OpenTargets

ENSG00000169562

GeneCards

P08034

PRO

P08034

Orphanet

16129

PDB

5KK9, 1TXH

Interactors (43)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:A0PK00 T120B			0.488	2
UniProt:Q9Y6I9 TEX264	2	TEX264 [platelet alpha granule lumen] (R-HSA-8863000) TEX264 [extracellular region] (R-HSA-8863002)	0.488	2
UniProt:O00155 GPR25	1	GPR25 [plasma membrane] (R-HSA-6805220)	0.488	2
UniProt:O95236-2 APOL3			0.488	2
UniProt:Q96HH6 TMM19			0.488	2
UniProt:P11912 CD79A	2	CD79A [plasma membrane] (R-HSA-197154) p-Y188,Y199-CD79A [plasma membrane] (R-HSA-983539)	0.488	2
UniProt:Q9Y666-2 SLC12A7			0.488	2
UniProt:P11215 ITGAM	3	ITGAM [specific granule membrane] (R-HSA-6799647) ITGAM [tertiary granule membrane] (R-HSA-6800979) ITGAM [plasma membrane] (R-HSA-202757)	0.488	2
UniProt:Q4LDR2 CTXN3			0.488	2
UniProt:Q5J8X5 M4A13			0.488	2
UniProt:Q9GZY8-5 MFF			0.488	2
UniProt:Q6ZUX7 LHFPL2	2	LHFPL2 [platelet alpha granule membrane] (R-HSA-8862969) LHFPL2 [plasma membrane] (R-HSA-8862949)	0.488	2
UniProt:Q5BVD1 TTMP			0.488	2
UniProt:A2RU14 TM218			0.488	2
IntAct:EBI-17197065 C1GALT1			0.488	2
UniProt:P47884 OR1D4	1	OR1D4 [plasma membrane] (R-HSA-378651)	0.488	2
UniProt:P54852 EMP3			0.488	2
UniProt:Q9Y5U9 IR3IP			0.488	2
UniProt:Q9Y2Y6 TMM98			0.488	2
UniProt:Q9NX14 NDUFB11	1	NDUFB11 [mitochondrial inner membrane] (R-HSA-163933)	0.488	2
UniProt:Q5QGT7 RTP2	1	RTP2 [plasma membrane] (R-HSA-8939446)	0.488	2
UniProt:Q96DZ9-2 CMTM5			0.488	2
UniProt:Q0D2K0 NIPAL4	1	NIPAL4 [plasma membrane] (R-HSA-5216046)	0.488	2
UniProt:P21964 COMT	2	COMT [cytosol] (R-HSA-175974) COMT [plasma membrane] (R-HSA-379386)	0.488	2
UniProt:O00767 SCD	1	SCD [endoplasmic reticulum membrane] (R-HSA-400117)	0.488	2
UniProt:P15692-12 VEGFA			0.488	2
UniProt:P43378 PTPN9	1	PTPN9 [nucleoplasm] (R-HSA-9008907)	0.488	2
UniProt:Q969L2 MAL2			0.488	2
UniProt:Q96MX0 CKLF3			0.488	2
UniProt:O14523 C2C2L			0.488	2
UniProt:P21145 MAL			0.488	2
UniProt:O43561-2 LAT	2	LAT-2 [plasma membrane] (R-HSA-2396548) p-5Y-LAT-2 [plasma membrane] (R-HSA-2396597)	0.488	2
UniProt:Q9UNK0 STX8			0.488	2
UniProt:Q07325 CXCL9	1	CXCL9 [extracellular region] (R-HSA-373856)	0.488	2
UniProt:O75841 UPK1B			0.488	2
UniProt:P11049 CD37			0.488	2
UniProt:P52803 EFNA5	3	EFNA5 (?-203) C-ter [plasma membrane] (R-HSA-3928431) EFNA5 (21-?) N-ter [extracellular region] (R-HSA-3928456) EFNA5 [plasma membrane] (R-HSA-2682331)	0.488	2
UniProt:P48230 T4S4			0.488	2
UniProt:Q9P0S9 TM14C			0.488	2
UniProt:O95393 BMP10	2	BMP10 [extracellular region] (R-HSA-8858374) BMP10(22-424) [extracellular region] (R-HSA-2396409)	0.488	2
UniProt:A2A2V5 SRTM1			0.488	2
UniProt:Q9BXN2-6 CLEC7A			0.488	2
UniProt:Q96EC8 YIPF6	2	YIPF6 [cytoplasmic vesicle membrane] (R-HSA-434199) YIPF6 [Golgi membrane] (R-HSA-434346)	0.488	2