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Gene, Transcriptome, Protein, Pathway or Disease. 

Gene basic information

LiverAtlas Gene ID

HuLG001809

Entrez Gene ID

2697

Official Gene Symbol

GJA1

Synonyms

CX43|DFNB38|GJAL|HSS|ODDD

Gene name

gap junction protein, alpha 1, 43kDa

Gene Type

protein-coding

Chromosome

6

Genomics Location

6q21-q23.2

Known cancer genes

Yes

Protein products

Gap junction alpha-1 protein

Related liver disease name

Hepatocellular carcinoma

Database cross reference

HGNC:4274
MIM:121014
Ensembl:ENSG00000152661
HPRD:00414
RefSeq Genomic nucleotide accession:AC_000049
RefSeq Genomic nucleotide gi:89161209

Liver relevance

HCC significant genes

Yes/No

Yes

Evidence

HCC.net

Quality score

 

Ontology annotation

GO ID

GO annotation

GO:0000139

Golgi membrane

GO:0004871

signal transducer activity

GO:0005243

gap junction channel activity

GO:0005515

protein binding

GO:0005737

cytoplasm

GO:0005741

mitochondrial outer membrane

GO:0005764

lysosome

GO:0005769

early endosome

GO:0005771

multivesicular body

GO:0005783

endoplasmic reticulum

GO:0005794

Golgi apparatus

GO:0005886

plasma membrane

GO:0005887

integral to plasma membrane

GO:0005916

fascia adherens

GO:0005921

gap junction

GO:0005922

connexon complex

GO:0006810

transport

GO:0006915

apoptosis

GO:0006936

muscle contraction

GO:0007165

signal transduction

GO:0007267

cell-cell signaling

GO:0007507

heart development

GO:0008285

negative regulation of cell proliferation

GO:0009268

response to pH

GO:0010232

vascular transport

GO:0015075

ion transmembrane transporter activity

GO:0015867

ATP transport

GO:0016044

cellular membrane organization

GO:0016264

gap junction assembly

GO:0017124

SH3 domain binding

GO:0022857

transmembrane transporter activity

GO:0030054

cell junction

GO:0030165

PDZ domain binding

GO:0030660

Golgi-associated vesicle membrane

GO:0034220

ion transmembrane transport

GO:0043123

positive regulation of I-kappaB kinase/NF-kappaB cascade

GO:0043434

response to peptide hormone stimulus

GO:0045121

membrane raft

GO:0045732

positive regulation of protein catabolic process

GO:0048812

neuron projection morphogenesis

GO:0051259

protein oligomerization

GO:0051924

regulation of calcium ion transport