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GJC1

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From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens

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)^[1]

Band	17q21.31	Start	44,798,448bp^[1]
Band	17q21.31	End	44,830,816bp^[1]

Gene location (Mouse)

Chr.	Chromosome 11 (mouse)^[2]

Band	11\|11 E1	Start	102,690,405bp^[2]
Band	11\|11 E1	End	102,710,526bp^[2]

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 development of the heart 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

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Gap junction gamma-1 protein (GJC1), also known asgap junction alpha-7 protein (GJA7) andconnexin 45 (Cx45) — is aprotein that in humans is encoded by theGJC1gene.^[5]^[6]

Function

[edit]

This gene is a member of theconnexin gene family. The encoded protein is a component ofgap 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

[edit]

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000182963 –Ensembl, May 2017
^^a ^b ^cGRCm38: 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".

External links

[edit]

GJC1 human gene location in theUCSC Genome Browser.
GJC1 human gene details in theUCSC Genome Browser.

Membrane transport protein:ion channels (TC 1A)

Ca²⁺:Calcium channel

Ligand-gated	Inositol trisphosphate receptor 1 2 3 Ryanodine receptor 1 2 3
Voltage-gated	L-type/Ca_vα 1.1 1.2 1.3 1.4 N-type/Ca_vα2.2 P-type/Ca_vα 2.1 Q-type/Ca_vα2.1 R-type/Ca_vα2.3 T-type/Ca_vα 3.1 3.2 3.3 α₂δ-subunits 1 2 β-subunits β1 β2 β3 β4 γ-subunits γ1 γ2 γ3 γ4 Cation channels of sperm 1 2 3 4 Two-pore channel 1 2

Na⁺:Sodium channel

Constitutively active	Epithelial sodium channel α β γ δ
Proton-gated	Amiloride-sensitive cation channel 1 2 3 4
Voltage-gated	Na_vα 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 1.9 7A Na_vβ 1 2 3 4

K⁺:Potassium channel

Calcium-activated	BK channel α1 β1 β2 β3 β4 SK channel SK1 SK2 SK3 IK channel IK1 K_Ca 1.1 2.1 2.2 2.3 3.1 4.1 4.2 5.1
Inward-rectifier	K_ATP K_ir 1.1 2.1 2.2 2.3 2.4 2.6 GIRK/K_ir 3.1 3.2 3.3 3.4 K_ir 4.1 4.2 5.1 6.1 6.2 7.1
Tandem pore domain	K2P 1 2 3 4 5 6 7 9 10 12 13 15 16 17 18
Voltage-gated	K_vα1-6 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 2.1 2.2 3.1 3.2 3.3 3.4 4.1 4.2 4.3 5.1 6.1 6.2 6.3 6.4 K_vα7-12 7.1 7.2 7.3 7.4 7.5 8.1 8.2 9.1 9.2 9.3 10.1 10.2 11.1/hERG 11.2 11.3 12.1 12.2 12.3 K_vβ 1 2 3 KCNIP 1 2 3 4 minK/ISK minK/ISK-like MiRP 1 2 3 Shaker (gene)

Miscellaneous

Cl⁻:Chloride channel	Calcium-activated chloride channels Anoctamin ANO1 Bestrophin 1 2 Chloride Channel Accessory 1 2 3 4 CFTR CLCN 1 2 3 4 5 6 7 KA KB CLIC 1 2 3 4 5 6 L1 CLNS 1A 1B
H⁺:Proton channel	HVCN1
M⁺:CNG cation channel	α 1 2 3 4 β 1 2 3 HCN FC 1 2 3 4
M⁺:TRP cation channel	TRPA (1) TRPC 1 2 3 4 4AP 5 6 7 TRPM 1 2 3 4 5 6 7 8 TRPML 1 2 3 TRPN TRPP 1 2 TRPV 1 2 3 4 5 6
H₂O (+solutes):Porin	Aquaporin 0 1 2 3 4 5 6 7 8 9 Voltage-dependent anion channel 1 2 3 General bacterial porin family
Cytoplasm:Gap junction	Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin