Reactome | UniProt:O75712 GJB3

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UniProt:O75712 GJB3 Show undefined attributes

chain	chain:1-270
checksum	E46D36E5835646A4
comment	FUNCTION One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.SUBUNIT A connexon is composed of a hexamer of connexins. Interacts with CNST (By similarity).INTERACTION The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the connexin family. Beta-type (group I) subfamily.ONLINE INFORMATION Gene page
crossReference	[DatabaseIdentifier:12335953] RefSeq:NP_076872.1 [DatabaseIdentifier:12335952] RefSeq:NP_001005752.1 [DatabaseIdentifier:12289750] Pharos - Targets:O75712 [DatabaseIdentifier:12251446] PRO:O75712 [DatabaseIdentifier:12137670] Orphanet:GJB3 [DatabaseIdentifier:12129539] OpenTargets:ENSG00000188910 [DatabaseIdentifier:11844904] HPA:ENSG00000188910-GJB3 [DatabaseIdentifier:11791907] GeneCards:GJB3 [DatabaseIdentifier:11780523] Guide to Pharmacology - Targets:720 [DatabaseIdentifier:11672320] ENSEMBL:ENST00000373366 [DatabaseIdentifier:11672319] ENSEMBL:ENST00000373362 [DatabaseIdentifier:11549620] ENSEMBL:ENSP00000362464 [DatabaseIdentifier:11549621] ENSEMBL:ENSP00000362460 [DatabaseIdentifier:11457901] ENSEMBL:ENSG00000188910
databaseName	UniProt
dbId	53214
description	recommendedName: Gap junction beta-3 protein alternativeName: Connexin-31 shortName: Cx31
displayName	UniProt:O75712 GJB3
geneName	GJB3 CX31
identifier	O75712
isSequenceChanged	false
keyword	Cell junction Cell membrane Deafness Disease variant Gap junction Membrane Non-syndromic deafness Palmoplantar keratoderma Proteomics identification Reference proteome Transmembrane Transmembrane helix
modified	[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
moleculeType	Protein
name	GJB3
otherIdentifier	11725825_a_at 16662322 205490_PM_x_at 205490_x_at 205491_PM_s_at 205491_s_at 215243_PM_s_at 215243_s_at 2707 4054415 4054416 4054417 4054419 4054420 41076_at 7899932 A_23_P201854 A_24_P379233 GE54484 GE88103 GO:0001890 GO:0005243 GO:0005515 GO:0005737 GO:0005886 GO:0005911 GO:0005921 GO:0005922 GO:0007154 GO:0007267 GO:0016020 GO:0030054 GO:0048856 GO:0055085 GO:0070161 HMNXSV003026534 Hs.98485.0.S1_3p_a_at ILMN_1731525 ILMN_1789575 ILMN_2334531 PH_hs_0025026 PH_hs_0028561 TC01000450.hg g13128959_3p_a_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-9839595] GJB3 [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-190625] GJB3 [endoplasmic reticulum membrane] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:12729622] UCSC:O75712 GJB3 [ReferenceDNASequence:12114178] OMIM:603324 GJB3 [ReferenceDNASequence:12036507] NCBI Gene:2707 GJB3 [ReferenceDNASequence:11952414] Monarch:2707 GJB3 [ReferenceDNASequence:11865254] KEGG:hsa:2707 GJB3 [ReferenceDNASequence:11823582] HGNC:4285 GJB3 [ReferenceDNASequence:11435090] dbSNP Gene:2707 GJB3 [ReferenceDNASequence:11419827] CTD Gene:2707 GJB3 [ReferenceDNASequence:11398289] COSMIC - genes:GJB3 GJB3 [ReferenceDNASequence:11322625] BioGPS Gene:2707 GJB3 [ReferenceDNASequence:ensembl:ENSG00000188910] ENSEMBL:ENSG00000188910 GJB3
referenceTranscript	[ReferenceRNASequence:12517829] RefSeq:NM_001005752.2 GJB3 [ReferenceRNASequence:12517830] RefSeq:NM_024009.3 GJB3
schemaClass	ReferenceGeneProduct
secondaryIdentifier	CXB3_HUMAN B2R790 Q2TAZ8
sequenceLength	270
species	[Species:48887] Homo sapiens
stId	uniprot:O75712
url	http://purl.uniprot.org/uniprot/O75712

Referrals

(interactor)	[UndirectedInteraction:11299963] UniProt:O43561-2 <-> UniProt:O75712 (IntAct) [UndirectedInteraction:11248695] UniProt:Q8WVV5 <-> UniProt:O75712 (IntAct) [UndirectedInteraction:11248315] UniProt:P24593 <-> UniProt:O75712 (IntAct) [UndirectedInteraction:11235323] UniProt:Q9Y6X1 <-> UniProt:O75712 (IntAct) [UndirectedInteraction:11202401] UniProt:P21964 <-> UniProt:O75712 (IntAct)
(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-9839595] GJB3 [plasma membrane] [EntityWithAccessionedSequence:R-HSA-190625] GJB3 [endoplasmic reticulum membrane]

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