GJC1

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)
End	44,830,816 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	102,710,526 bp
RNA expression pattern
	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
	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
	10052
	14615
	ENSG00000182963
	ENSMUSG00000034520
	P36383
	P28229
	NM_001080383; NM_005497
	NM_001159382; NM_001159383; NM_008122; NM_001359040
	NP_001073852; NP_005488
	NP_001152854; NP_001152855; NP_032148; NP_001345969
	Wikidata
View/Edit Human	View/Edit Mouse

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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]

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000182963 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000034520 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ ^a ^b "Entrez Gene: GJA7 gap junction protein, alpha 7, 45kDa".

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.

This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000182963 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid7966354-5] 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.

[entrez-6] "Entrez Gene: GJA7 gap junction protein, alpha 7, 45kDa".

[1]

[2]

[3]

[4]

[5]

[6]

Function

References

Further reading

External links