NP_000156.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
43,008 Da
NCBI Official Full Name
gap junction alpha-1 protein
NCBI Official Synonym Full Names
gap junction protein, alpha 1, 43kDa
NCBI Official Synonym Symbols
HSS; CMDR; CX43; GJAL; ODDD; AVSD3; HLHS1 [Similar Products]
NCBI Protein Information
gap junction alpha-1 protein; connexin 43; connexin-43; gap junction 43 kDa heart protein
UniProt Protein Name
Gap junction alpha-1 protein
UniProt Synonym Protein Names
Connexin-43; Cx43; Gap junction 43 kDa heart protein
UniProt Synonym Gene Names
UniProt Entry Name
CXA1_HUMAN
NCBI Summary for GJA1
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]
UniProt Comments for GJA1
GJA1: an integral membrane protein of the connexin family, alpha-type (group II) subfamily. Hexamers of connexin-43 form connexons, which aggregate together to form gap junctions, through which materials of low MW diffuse from one cell to a neighboring cell. May play a critical role in the physiology of hearing by participating in the recycling of potassium to the cochlear endolymph.
Protein type: Motility/polarity/chemotaxis; Channel, misc.; Membrane protein, multi-pass; Membrane protein, integral
Chromosomal Location of Human Ortholog: 6q22.31
Cellular Component: Golgi apparatus; endoplasmic reticulum membrane; focal adhesion; contractile fiber; integral to plasma membrane; lysosome; early endosome; intermediate filament; fascia adherens; cytosol; lipid raft; Golgi membrane; multivesicular body; connexon complex; mitochondrial outer membrane; apical plasma membrane; gap junction; plasma membrane; lateral plasma membrane
Molecular Function: protein binding; signal transducer activity; ion transmembrane transporter activity; beta-tubulin binding; SH3 domain binding; gap junction channel activity; receptor binding; PDZ domain binding
Biological Process: lens development in camera-type eye; response to peptide hormone stimulus; apoptosis; heart development; neuron migration; milk ejection; signal transduction; positive regulation of vasodilation; elevation of cytosolic calcium ion concentration; cell-cell signaling; muscle contraction; positive regulation of glomerular filtration; negative regulation of cardiac muscle cell proliferation; transport; response to glucose stimulus; positive regulation of striated muscle development; heart looping; adult heart development; ATP transport; chronic inflammatory response; positive regulation of I-kappaB kinase/NF-kappaB cascade; gap junction assembly; epithelial cell maturation; in utero embryonic development; regulation of bone remodeling; skeletal muscle regeneration; positive regulation of insulin secretion; regulation of calcium ion transport; vascular transport; protein oligomerization; osteoblast differentiation; positive regulation of osteoblast differentiation; negative regulation of endothelial cell proliferation; positive regulation of vasoconstriction; positive regulation of protein catabolic process; blood vessel morphogenesis; embryonic digit morphogenesis; regulation of bone mineralization; neurite morphogenesis; response to pH
Disease: Syndactyly, Type Iii; Craniometaphyseal Dysplasia, Autosomal Recessive; Palmoplantar Keratoderma And Congenital Alopecia 1; Atrioventricular Septal Defect 3; Oculodentodigital Dysplasia; Erythrokeratodermia Variabilis Et Progressiva; Oculodentodigital Dysplasia, Autosomal Recessive; Hypoplastic Left Heart Syndrome 1
Research Articles on GJA1
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Products associated with anti-GJA1 antibody
Pathways associated with anti-GJA1 antibody
Diseases associated with anti-GJA1 antibody
Organs/Tissues associated with anti-GJA1 antibody
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