Cell Biology Antibodies 8
Anti-GJA1 Antibody (CAB2163)
- SKU:
- CAB2163
- Product Type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Host Species:
- Rabbit
- Isotype:
- IgG
- Research Area:
- Cell Biology
Description
Antibody Name: | Anti-GJA1 Antibody |
Antibody SKU: | CAB2163 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB |
Reactivity: | Human, Mouse |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 233-382 of human GJA1 (NP_000156.1). |
Application: | WB |
Recommended Dilution: | WB 1:500 - 1:2000 |
Reactivity: | Human, Mouse |
Positive Samples: | Mouse brain |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 233-382 of human GJA1 (NP_000156.1). |
Purification Method: | Affinity purification |
Storage Buffer: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Isotype: | IgG |
Sequence: | FKGV KDRV KGKS DPYH ATSG ALSP AKDC GSQK YAYF NGCS SPTA PLSP MSPP GYKL VTGD RNNS SCRN YNKQ ASEQ NWAN YSAE QNRM GQAG STIS NSHA QPFD FPDD NQNS KKLA AGHE LQPL AIVD QRPS SRAS SRAS SRPR PDDL EI |
Gene ID: | 2697 |
Uniprot: | P17302 |
Cellular Location: | Cell junction, Cell membrane, Endoplasmic reticulum, Multi-pass membrane protein, gap junction |
Calculated MW: | 43kDa |
Observed MW: | 43kDa |
Synonyms: | GJA1, AVSD3, CMDR, CX43, EKVP, GJAL, HLHS1, HSS, ODDD, PPKCA, EKVP3 |
Background: | 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. |
UniProt Protein Function: | 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. |
UniProt Protein Details: | Protein type:Membrane protein, integral; Channel, misc.; Motility/polarity/chemotaxis; Membrane protein, multi-pass 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; positive regulation of vasodilation; signal transduction; elevation of cytosolic calcium ion concentration; muscle contraction; cell-cell signaling; negative regulation of cardiac muscle cell proliferation; positive regulation of glomerular filtration; transport; response to glucose stimulus; positive regulation of striated muscle development; heart looping; ATP transport; adult heart development; chronic inflammatory response; positive regulation of I-kappaB kinase/NF-kappaB cascade; gap junction assembly; in utero embryonic development; epithelial cell maturation; regulation of bone remodeling; positive regulation of insulin secretion; skeletal muscle regeneration; 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 |
NCBI Summary: | 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 Code: | P17302 |
NCBI GenInfo Identifier: | 117706 |
NCBI Gene ID: | 2697 |
NCBI Accession: | P17302.2 |
UniProt Secondary Accession: | P17302,Q6FHU1, Q9Y5I8, B2R5U9, |
UniProt Related Accession: | P17302 |
Molecular Weight: | 382 |
NCBI Full Name: | Gap junction alpha-1 protein |
NCBI Synonym Full Names: | gap junction protein, alpha 1, 43kDa |
NCBI Official Symbol: | GJA1Â Â |
NCBI Official Synonym Symbols: | HSS; CMDR; CX43; GJAL; ODDD; AVSD3; HLHS1Â Â |
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 |
Protein Family: | Gap junction alpha-1 protein |
UniProt Gene Name: | GJA1Â Â |
UniProt Entry Name: | CXA1_HUMAN |