Bioinformatics and Systems Medicine Laboratory
General information | Expression | Regulation | Mutation | Interaction

Basic Information

Gene ID

2697

Name

GJA1

Synonymous

AVSD3|CX43|DFNB38|GJAL|HSS|ODDD;gap junction protein, alpha 1, 43kDa;GJA1;gap junction protein, alpha 1, 43kDa

Definition

connexin 43|connexin-43|gap junction 43 kDa heart protein|gap junction alpha-1 protein

Position

6q21-q23.2

Gene Type

protein-coding

Gene Regulation:

Transcription Factors
Post Transcriptional Modification From dbPTM
Methylation Profile From DiseaseMeth database

Transcription Factors

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Regulation From TransFac database

GJA1(h) --> gja1(h) (expression).
PKCalpha(h) + gja1(h) <==> PKCalpha(h):gja1(h) (binding)
PKCepsilon(h) + gja1(h) <==> PKCepsilon(h):gja1(h) (binding)
gja1(h) + ATP --PKCepsilon(m.s.)--> gja1(h){p} + ADP (phosphorylation)
gja1(h) + ATP --PKCalpha(m.s.)--> gja1(h){p} + ADP (phosphorylation)
zo-1(h) + gja1(h) <==> zo-1(h):gja1(h) (binding)
gja1(h) --> cyclinE(h) (increase of abundance)
GJA1(h) --> gja1(h) (expression).
angiotensin II(m.s.) --> gja1(h) (increase of abundance)

Post Transcriptional Modification From dbPTM

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Location (AA)

PTM type

Literature

Database

262Phosphoserine.Swiss-Prot 53.0
306Phosphoserine (By similarity).Swiss-Prot 53.0
314Phosphoserine (By similarity).Swiss-Prot 53.0
326Phosphothreonine (By similarity).Swiss-Prot 53.0
328Phosphoserine (By similarity).Swiss-Prot 53.0
330Phosphoserine (By similarity).Swiss-Prot 53.0
367Phosphoserine (PKC epsilon)15534005Phospho.ELM 6.0
254Phosphoserine15605363Phospho.ELM 6.0
261Phosphoserine15605363Phospho.ELM 6.0
278Phosphoserine15605363Phospho.ELM 6.0
281Phosphoserine15605363Phospho.ELM 6.0

Methylation Profile From DiseaseMeth database

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There is no record for GJA1



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