GJC1

Protein-coding gene in the species Homo sapiens
GJC1
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

3SHW

Identifiers
AliasesGJC1, CX45, GJA7, gap junction protein gamma 1
External IDsOMIM: 608655 MGI: 95718 HomoloGene: 4016 GeneCards: GJC1
Gene location (Human)
Chromosome 17 (human)
Chr.Chromosome 17 (human)[1]
Chromosome 17 (human)
Genomic location for GJC1
Genomic location for GJC1
Band17q21.31Start44,798,448 bp[1]
End44,830,816 bp[1]
Gene location (Mouse)
Chromosome 11 (mouse)
Chr.Chromosome 11 (mouse)[2]
Chromosome 11 (mouse)
Genomic location for GJC1
Genomic location for GJC1
Band11|11 E1Start102,690,405 bp[2]
End102,710,526 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • seminal vesicula

  • secondary oocyte

  • visceral pleura

  • saphenous vein

  • placenta

  • myometrium

  • urethra

  • ganglionic eminence

  • parietal pleura

  • stromal cell of endometrium
Top expressed in
  • abdominal wall

  • renal corpuscle

  • internal carotid artery

  • superior surface of tongue

  • vas deferens

  • endocardial cushion

  • external carotid artery

  • medullary collecting duct

  • primitive streak

  • dermis
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
SpeciesHumanMouse
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 MbChr 11: 102.69 – 102.71 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000182963 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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. 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

  • v
  • t
  • e
Ligand-gated
Voltage-gated
Constitutively active
Proton-gated
Voltage-gated
Calcium-activated
Inward-rectifier
Tandem pore domain
Voltage-gated
Miscellaneous
Cl−: Chloride channel
H+: Proton channel
M+: CNG cation channel
M+: TRP cation channel
H2O (+ solutes): Porin
Cytoplasm: Gap junction
By gating mechanism
Ion channel class
see also disorders


Stub icon

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

  • v
  • t
  • e