GJC1

Gap junction gamma-1 protein (GJC1), also known as gap junction alpha-7 protein (GJA7) and connexin 45 (Cx45) — is a protein that in humans is encoded by the GJC1 gene.

GJC1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3SHW
Identifiers
Aliases	GJC1, CX45, GJA7, gap junction protein gamma 1
External IDs	OMIM: 608655; MGI: 95718; HomoloGene: 4016; GeneCards: GJC1; OMA:GJC1 - orthologs
Gene location (Human) Chr. Chromosome 17 (human) Band 17q21.31 Start 44,798,448 bp End 44,830,816 bp
Gene location (Mouse) Chr. Chromosome 11 (mouse) Band 11|11 E1 Start 102,690,405 bp End 102,710,526 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tail of epididymis seminal vesicula cartilage tissue secondary oocyte visceral pleura saphenous vein placenta ventricular zone epithelium of colon myometrium Top expressed in abdominal wall renal corpuscle internal carotid artery superior surface of tongue vas deferens endocardial cushion tail of embryo external carotid artery medullary collecting duct primitive streak More reference expression data BioGPS More reference expression data
Gene ontology Molecular function ion channel activity gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling gap junction channel activity Cellular component integral component of membrane endoplasmic reticulum membrane membrane intercalated disc plasma membrane cell junction gap junction connexin complex Biological process muscle contraction cell development cardiac muscle tissue development cell-cell signaling vasculogenesis cell communication heart development ion transmembrane transport atrial cardiac muscle cell action potential cell-cell junction assembly visual perception chemical synaptic transmission gap junction assembly SA node cell to atrial cardiac muscle cell communication by electrical coupling AV node cell to bundle of His cell communication by electrical coupling transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10052 14615 Ensembl ENSG00000182963 ENSMUSG00000034520 UniProt P36383 P28229 RefSeq (mRNA) NM_001080383 NM_005497 NM_001159382 NM_001159383 NM_008122 NM_001359040 RefSeq (protein) NP_001073852 NP_005488 NP_001152854 NP_001152855 NP_032148 NP_001345969 Location (UCSC) Chr 17: 44.8 – 44.83 Mb Chr 11: 102.69 – 102.71 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Function

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. Alternatively spliced transcript variants encoding the same isoform have been described.

Further reading

• Andrew L Harris; Darren Locke (2009). Connexins, A Guide. New York: Springer. p. 574. ISBN 978-1-934115-46-6.
• Kilarski WM, Dupont E, Coppen S, et al. (1998). "Identification of two further gap-junctional proteins, connexin40 and connexin45, in human myometrial smooth muscle cells at term". Eur. J. Cell Biol. 75 (1): 1–8. doi:10.1016/S0171-9335(98)80040-X. PMID 9523149.
• Vozzi C, Dupont E, Coppen SR, et al. (1999). "Chamber-related differences in connexin expression in the human heart". J. Mol. Cell. Cardiol. 31 (5): 991–1003. doi:10.1006/jmcc.1999.0937. PMID 10336839.
• Chanson M, Scerri I, Suter S (1999). "Defective regulation of gap junctional coupling in cystic fibrosis pancreatic duct cells". J. Clin. Invest. 103 (12): 1677–84. doi:10.1172/JCI5645. PMC 408381. PMID 10377174.
• Kausalya PJ, Reichert M, Hunziker W (2001). "Connexin45 directly binds to ZO-1 and localizes to the tight junction region in epithelial MDCK cells". FEBS Lett. 505 (1): 92–6. doi:10.1016/S0014-5793(01)02786-7. PMID 11557048. S2CID 13489358.
• Laing JG, Manley-Markowski RN, Koval M, et al. (2003). "Connexin45 interacts with zonula occludens-1 in osteoblastic cells". Cell Commun. Adhes. 8 (4–6): 209–12. doi:10.3109/15419060109080725. PMID 12064590. S2CID 23039209.
• Kaba RA, Coppen SR, Dupont E, et al. (2003). "Comparison of connexin 43, 40 and 45 expression patterns in the developing human and mouse hearts". Cell Commun. Adhes. 8 (4–6): 339–43. doi:10.3109/15419060109080750. PMID 12064615. S2CID 23388741.
• Xiang Q, Fan SQ, Li J, et al. (2003). "[Expression of connexin43 and connexin45 in nasopharyngeal carcinoma]". AI Zheng. 21 (6): 593–6. PMID 12452056.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Tsai MY, Lan KC, Huang KE, et al. (2004). "Significance of mRNA levels of connexin37, connexin43, and connexin45 in luteinized granulosa cells of controlled hyperstimulated follicles". Fertil. Steril. 80 (6): 1437–43. doi:10.1016/j.fertnstert.2003.05.015. PMID 14667880.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Valiunas V, Doronin S, Valiuniene L, et al. (2004). "Human mesenchymal stem cells make cardiac connexins and form functional gap junctions". J. Physiol. 555 (Pt 3): 617–26. doi:10.1113/jphysiol.2003.058719. PMC 1664864. PMID 14766937.
• Brandenberger R, Wei H, Zhang S, et al. (2005). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nat. Biotechnol. 22 (6): 707–16. doi:10.1038/nbt971. PMID 15146197. S2CID 27764390.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
• Laing JG, Koval M, Steinberg TH (2007). "Association with ZO-1 correlates with plasma membrane partitioning in truncated connexin45 mutants". J. Membr. Biol. 207 (1): 45–53. doi:10.1007/s00232-005-0803-2. PMID 16463142. S2CID 20032015.
• Rackauskas M, Kreuzberg MM, Pranevicius M, et al. (2007). "Gating properties of heterotypic gap junction channels formed of connexins 40, 43, and 45". Biophys. J. 92 (6): 1952–65. Bibcode:2007BpJ....92.1952R. doi:10.1529/biophysj.106.099358. PMC 1861779. PMID 17189315.
• Kotsias BA, Salim M, Peracchia LL, Peracchia C (2007). "Interplay between cystic fibrosis transmembrane regulator and gap junction channels made of connexins 45, 40, 32 and 50 expressed in oocytes". J. Membr. Biol. 214 (1): 1–8. doi:10.1007/s00232-006-0064-8. PMID 17546509. S2CID 7095255.

External links

• GJC1 human gene location in the UCSC Genome Browser.
• GJC1 human gene details in the UCSC Genome Browser.