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.[5][6]

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
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q21.31 Start 44,798,448 bp[1] End 44,830,816 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 E1 Start 102,799,579 bp[2] End 102,819,700 bp[2]
RNA expression pattern 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 • cell membrane • cell junction • gap junction • connexon 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: 102.8 – 102.82 Mb
PubMed search	[3]	[4]
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.[6]

References

1. GRCh38: Ensembl release 89: ENSG00000182963 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000034520 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Kanter HL, Saffitz JE, Beyer EC (Dec 1994). "Molecular cloning of two human cardiac gap junction proteins, connexin40 and connexin45". J Mol Cell Cardiol. 26 (7): 861–8. doi:10.1006/jmcc.1994.1103. PMID 7966354.
6. "Entrez Gene: GJA7 gap junction protein, alpha 7, 45kDa".

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.
• 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.
• 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.
• 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. 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.
• 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.
• 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. 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.

External links

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