The GJA1 gene and its putative association with human ageing

Cell Types

Chondrocyte

Cell Lines

T/C-28a2

Cancer Cell?

No

Method

Overexpression

Type of senescence

Unclear

Senescence Effect

Induces

Primary Reference

Varela-Eirín et al. (2019) Targeting of chondrocyte plasticity via connexin43 modulation attenuates cellular senescence and fosters a pro-regenerative environment in osteoarthritis. Cell Death Dis 9(12)1166 (PubMed)

HGNC symbol

GJA1

Aliases

CX43; GJAL; ODD; ODDD; ODOD; SDTY3

Common name

gap junction protein alpha 1

Entrez Id

2697

Description

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014].

Gene Ontology

Process:

GO:43123; positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:60348; bone development
GO:7154; cell communication
GO:7283; spermatogenesis
GO:7507; heart development
GO:7267; cell-cell signaling
GO:34775; glutathione transmembrane transport
GO:30308; negative regulation of cell growth
GO:10628; positive regulation of gene expression
GO:1904646; cellular response to amyloid-beta
GO:35633; maintenance of blood-brain barrier
GO:120162; positive regulation of cold-induced thermogenesis
GO:42908; xenobiotic transport
GO:140115; export across plasma membrane
GO:46849; bone remodeling
GO:2000648; positive regulation of stem cell proliferation
GO:7165; signal transduction
GO:3161; cardiac conduction system development
GO:86064; cell communication by electrical coupling involved in cardiac conduction
GO:132; establishment of mitotic spindle orientation
GO:1904707; positive regulation of vascular associated smooth muscle cell proliferation
GO:10644; cell communication by electrical coupling
GO:14047; glutamate secretion
GO:16264; gap junction assembly
GO:32277; negative regulation of gonadotropin secretion
GO:34220; ion transmembrane transport
GO:34613; cellular protein localization
GO:86014; atrial cardiac muscle cell action potential
GO:1901164; negative regulation of trophoblast cell migration
GO:1905332; positive regulation of morphogenesis of an epithelium
GO:1905772; positive regulation of mesodermal cell differentiation
GO:1649; osteoblast differentiation
GO:1701; in utero embryonic development
GO:1764; neuron migration
GO:1947; heart looping
GO:2070; epithelial cell maturation
GO:2088; lens development in camera-type eye
GO:3294; atrial ventricular junction remodeling
GO:7512; adult heart development
GO:8016; regulation of heart contraction
GO:8584; male gonad development
GO:10629; negative regulation of gene expression
GO:10643; cell communication by chemical coupling
GO:30500; regulation of bone mineralization
GO:35050; embryonic heart tube development
GO:42098; T cell proliferation
GO:42110; T cell activation
GO:42733; embryonic digit morphogenesis
GO:43403; skeletal muscle tissue regeneration
GO:45216; cell-cell junction organization
GO:45844; positive regulation of striated muscle tissue development
GO:46850; regulation of bone remodeling
GO:48514; blood vessel morphogenesis
GO:60156; milk ejection reflex
GO:60307; regulation of ventricular cardiac muscle cell membrane repolarization
GO:60371; regulation of atrial cardiac muscle cell membrane depolarization
GO:60373; regulation of ventricular cardiac muscle cell membrane depolarization
GO:61337; cardiac conduction
GO:71467; cellular response to pH

Cellular component:

GO:16020; membrane
GO:16021; integral component of membrane
GO:43231; intracellular membrane-bounded organelle
GO:5783; endoplasmic reticulum
GO:5654; nucleoplasm
GO:5886; plasma membrane
GO:5739; mitochondrion
GO:5925; focal adhesion
GO:30054; cell junction
GO:16324; apical plasma membrane
GO:5921; gap junction
GO:5922; connexin complex
GO:5887; integral component of plasma membrane
GO:5789; endoplasmic reticulum membrane
GO:70160; tight junction
GO:5737; cytoplasm
GO:139; Golgi membrane
GO:45121; membrane raft
GO:5794; Golgi apparatus
GO:14704; intercalated disc
GO:30660; Golgi-associated vesicle membrane
GO:44291; cell-cell contact zone
GO:5829; cytosol
GO:5882; intermediate filament
GO:5911; cell-cell junction
GO:5916; fascia adherens
GO:16328; lateral plasma membrane
GO:43292; contractile fiber

Function:

GO:22857; transmembrane transporter activity
GO:5515; protein binding
GO:5243; gap junction channel activity
GO:15631; tubulin binding
GO:15562; efflux transmembrane transporter activity
GO:34634; glutathione transmembrane transporter activity
GO:8013; beta-catenin binding
GO:15075; ion transmembrane transporter activity
GO:55077; gap junction hemi-channel activity
GO:86075; gap junction channel activity involved in cardiac conduction electrical coupling
GO:1903763; gap junction channel activity involved in cell communication by electrical coupling
GO:5102; signaling receptor binding
GO:48487; beta-tubulin binding
GO:97110; scaffold protein binding
GO:1990782; protein tyrosine kinase binding

Hide GO terms

Danio rerio

Mus musculus

Rattus norvegicus

OMIM

Ensembl

Entrez Gene