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:O75841 UPK1B

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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:hsa:2705 GJB1

Monarch:2705 GJB1

NCBI Gene:2705 GJB1

OMIM:304040 GJB1

UCSC:P08034 GJB1

Reference Transcript

Other Identifiers

11724864_a_at

17104656

204973_PM_at

204973_at

2705

39598_at

3980868

3980869

3980871

3980872

3980873

3980874

3980875

3980876

3980877

8168274

A_14_P132908

A_23_P250444

A_24_P404840

GE59657

GO:0005215

GO:0005243

GO:0005515

GO:0005737

GO:0005789

GO:0005886

GO:0005921

GO:0005922

GO:0007154

GO:0007267

GO:0007399

GO:0015868

GO:0016264

GO:0016328

GO:0023052

GO:0032991

GO:0034330

GO:0042802

GO:0048856

GO:0055085

GO:1905867

HMNXSV003057214

ILMN_1799535

PH_hs_0016322

PH_hs_0040104

TC0X000384.hg

X04325_at

g4504004_3p_at

Participates

as a candidate of

Cx26/Cx32 [endoplasmic reticulum membrane] (Homo sapiens)

as an output of

Synthesis of GJB1 (Cx32) (Homo sapiens)

as a component of

Connexin 32 connexon [endoplasmic reticulum membrane] (Homo sapiens)

as an input of

Connexin oligomerization in endoplasmic reticulum membrane (Homo sapiens)

Other forms of this molecule

GJB1 [endoplasmic reticulum-Golgi intermediate compartment]

Inferred To

Gjb1 [endoplasmic reticulum membrane] (Mus musculus)

Gjb1 [endoplasmic reticulum membrane] (Rattus norvegicus)

GJB1 [endoplasmic reticulum membrane] (Bos taurus)

GJB1 [endoplasmic reticulum membrane] (Gallus gallus)

GJB1 [endoplasmic reticulum membrane] (Sus scrofa)

gjb1a [endoplasmic reticulum membrane] (Danio rerio)

CXNG [endoplasmic reticulum membrane] (Canis familiaris)

gjb1 [endoplasmic reticulum membrane] (Xenopus tropicalis)

Cross References

RefSeq

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

Guide to Pharmacology - Targets

723

OpenTargets

ENSG00000169562

ENSEMBL

ENSP00000494596, ENSP00000494142, ENSP00000495960, ENST00000674844, ENSP00000363141, ENST00000675609, ENST00000675209, ENST00000674549, ENST00000374029, ENSP00000354900, ENSP00000407223, ENSP00000502556, ENSP00000502766, ENST00000647424, ENSP00000501757, ENST00000646835, ENST00000645009, ENST00000361726, ENSP00000501813, ENSP00000501571, ENST00000675368, ENST00000447581

HPA

ENSG00000169562-GJB1

PRO

P08034

Pharos - Targets

P08034

Orphanet

GJB1

PDB

7ZXO, 7ZXM, 5KK9, 7ZXN, 7ZXP, 7ZXT, 7ZXQ

Interactors (45)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
IntAct:EBI-22331701 CCSB ORF ID			0.556	3
UniProt:P29033 GJB2	3	GJB2 [endoplasmic reticulum-Golgi intermediate compartment] (R-HSA-190614) GJB2 [endoplasmic reticulum membrane] (R-HSA-1629779) GJB2 [plasma membrane] (R-HSA-53211)	0.556	3
UniProt:P21964 COMT	2	COMT [cytosol] (R-HSA-175974) COMT [plasma membrane] (R-HSA-379386)	0.556	3
UniProt:Q5QGT7 RTP2	2	RTP2 [endoplasmic reticulum membrane] (R-HSA-9752982) RTP2 [plasma membrane] (R-HSA-8939446)	0.556	3
UniProt:P15692-12 VEGFA			0.556	3
UniProt:P43378 PTPN9	1	PTPN9 [nucleoplasm] (R-HSA-9008907)	0.556	3
UniProt:Q969L2 MAL2			0.556	3
UniProt:Q96MX0 CKLF3			0.556	3
UniProt:O14523 C2C2L			0.556	3
UniProt:P21145 MAL			0.556	3
UniProt:O43561-2 LAT	2	p-5Y-LAT-2 [plasma membrane] (R-HSA-2396597) LAT-2 [plasma membrane] (R-HSA-2396548)	0.556	3
UniProt:Q9UNK0 STX8			0.556	3
UniProt:P02787 TF	6	TF [endoplasmic reticulum lumen] (R-HSA-8956763) p-TF [endoplasmic reticulum lumen] (R-HSA-8957001) apoTF [endosome membrane] (R-HSA-917974) apoTF [extracellular region] (R-HSA-350754) TF [secretory granule lumen] (R-HSA-350704) apoTF [clathrin-coated endocytic vesicle membrane] (R-HSA-8869140)	0.556	3
UniProt:Q07325 CXCL9	1	CXCL9 [extracellular region] (R-HSA-373856)	0.556	3
UniProt:O00767 SCD	1	SCD [endoplasmic reticulum membrane] (R-HSA-400117)	0.556	3
UniProt:O75841 UPK1B			0.556	3
UniProt:P11049 CD37			0.556	3
UniProt:P52803 EFNA5	3	EFNA5 (21-?) N-ter [extracellular region] (R-HSA-3928456) EFNA5 (?-203) C-ter [plasma membrane] (R-HSA-3928431) EFNA5 [plasma membrane] (R-HSA-2682331)	0.556	3
UniProt:P48230 T4S4			0.556	3
UniProt:Q9P0S9 TM14C			0.556	3
UniProt:O95393 BMP10	2	BMP10(22-424) [extracellular region] (R-HSA-2396409) BMP10 [extracellular region] (R-HSA-8858374)	0.556	3
UniProt:A2A2V5 SRTM1			0.556	3
UniProt:Q96EC8 YIPF6	2	YIPF6 [Golgi membrane] (R-HSA-434346) YIPF6 [cytoplasmic vesicle membrane] (R-HSA-434199)	0.556	3
UniProt:Q9BXN2-6 CLEC7A			0.556	3
UniProt:Q0D2K0 NIPAL4	1	NIPAL4 [plasma membrane] (R-HSA-5216046)	0.556	3
UniProt:Q96DZ9-2 CMTM5			0.556	3
UniProt:Q9NX14 NDUFB11	1	NDUFB11 [mitochondrial inner membrane] (R-HSA-163933)	0.556	3
UniProt:Q9Y2Y6 TMM98			0.556	3
UniProt:O14735 CDIPT	1	CDIPT [endoplasmic reticulum membrane] (R-HSA-1498749)	0.556	3
UniProt:P54852 EMP3			0.556	3
UniProt:Q9Y5U9 IR3IP			0.556	3
UniProt:A2RU14 TM218			0.556	3
UniProt:Q5BVD1 TTMP			0.556	3
UniProt:Q6ZUX7 LHFPL2	2	LHFPL2 [plasma membrane] (R-HSA-8862949) LHFPL2 [platelet alpha granule membrane] (R-HSA-8862969)	0.556	3
UniProt:Q9GZY8-5 MFF			0.556	3
UniProt:Q5J8X5 M4A13			0.556	3
UniProt:Q4LDR2 CTXN3			0.556	3
UniProt:P11215 ITGAM	3	ITGAM [plasma membrane] (R-HSA-202757) ITGAM [specific granule membrane] (R-HSA-6799647) ITGAM [tertiary granule membrane] (R-HSA-6800979)	0.556	3
UniProt:Q9Y666-2 SLC12A7			0.556	3
UniProt:P11912 CD79A	2	p-Y188,Y199-CD79A [plasma membrane] (R-HSA-983539) CD79A [plasma membrane] (R-HSA-197154)	0.556	3
UniProt:Q96HH6 TMM19			0.556	3
UniProt:O95236-2 APOL3			0.556	3
UniProt:O00155 GPR25	1	GPR25 [plasma membrane] (R-HSA-6805220)	0.556	3
UniProt:Q9Y6I9 TEX264	2	TEX264 [platelet alpha granule lumen] (R-HSA-8863000) TEX264 [extracellular region] (R-HSA-8863002)	0.556	3
UniProt:A0PK00 T120B			0.556	3

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