• Gene id: 10052

Gene Summary

• Gene Symbol: GJC1   Gene   UCSC   Ensembl
• Aliases: CX45, GJA7
• Gene name: gap junction protein gamma 1
• Alternate names: gap junction gamma-1 protein, CTC-296K1.4, connexin-45, gap junction alpha-7 protein, gap junction protein, gamma 1, 45kDa,
• Gene location: 17q21.31 (44831363: 44794987)     Exons: 9     NC_000017.11
• Gene summary(Entrez): 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. Alte
• OMIM: 602157

SNPs

rs6563386

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.36202894C>A
NC_000013.11   g.36202894C>G
NC_000013.11   g.36202894C>T
NC_000013.10   g.36777031C>A
NC_000013.10   g.36777031C>G
NC_000013.10   g.36777031C>T
NG_033786.1   g.16722G>T
NG_033786.1   g.16722G>C
NG_033786.1   g.16722G>A|SEQ=[C/A/G/T]|GENE=

rs2231829

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.45547937G>A
NC_000020.10   g.44176576G>A|SEQ=[G/A]|GENE=EPPIN
EPPIN-WFDC6   100526773

rs1328626

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.36204635C>A
NC_000013.10   g.36778772C>A
NG_033786.1   g.14981G>T|SEQ=[C/A]|GENE=SOHLH2
CCDC169-SOHLH2   100526761

rs11594

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.45542073C>A
NC_000020.11   g.45542073C>G
NC_000020.11   g.45542073C>T
NC_000020.10   g.44170712C>A
NC_000020.10   g.44170712C>G
NC_000020.10   g.44170712C>T
NM_020398.3   c.*71G>T
NM_020398.3   c.*71G>C
NM_020398.3   c.*71G>A
NM_020398.4   c.*71G>T
NM_0  

Protein Summary

• Protein general information: P36383  
  • Name: Gap junction gamma 1 protein (Connexin 45) (Cx45) (Gap junction alpha 7 protein)
  • Length: 396  
  • Mass: 45470
• Sequence:

  MSWSFLTRLLEEIHNHSTFVGKIWLTVLIVFRIVLTAVGGESIYYDEQSKFVCNTEQPGCENVCYDAFAPLSHVR
  FWVFQIILVATPSVMYLGYAIHKIAKMEHGEADKKAARSKPYAMRWKQHRALEETEEDNEEDPMMYPEMELESDK
  ENKEQSQPKPKHDGRRRIREDGLMKIYVLQLLARTVFEVGFLIGQYFLYGFQVHPFYVCSRLPCPHKIDCFISRP
  TEKTIFLLIMYGVTGLCLLLNIWEMLHLGFGTIRDSLNSKRRELEDPGAYNYPFTWNTPSAPPGYNIAVKPDQIQ
  YTELSNAKIAYKQNKANTAQEQQYGSHEENLPADLEALQREIRMAQERLDLAVQAYSHQNNPHGPREKKAKVGSK
  AGSNKSTASSKSGDGKTSVWI

• Structural information:
  • Interpro: IPR000500  IPR002265  IPR019570  IPR017990  IPR013092   IPR038359  
  • Prosite: PS00407 PS00408
  • PDB: 3SHW
  • PDBsum: 3SHW
  • STRING: ENSP00000411528
• Other Databases: GeneCards:  GJC1  Malacards:  GJC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005243	gap junction channel activity	IBA	molecular function
GO:0007267	cell-cell signaling	IBA	biological process
GO:0005922	connexin complex	IBA	cellular component
GO:0007154	cell communication	IEA	biological process
GO:0005922	connexin complex	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005921	gap junction	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005921	gap junction	TAS	cellular component
GO:0006936	muscle contraction	TAS	biological process
GO:0007043	cell-cell junction assembly	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0016264	gap junction assembly	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007267	cell-cell signaling	IEA	biological process
GO:0005243	gap junction channel activity	IEA	molecular function
GO:0007601	visual perception	IEA	biological process
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0007267	cell-cell signaling	IEA	biological process
GO:0001570	vasculogenesis	IEA	biological process
GO:0005921	gap junction	IEA	cellular component
GO:0007507	heart development	IEA	biological process
GO:0005922	connexin complex	IEA	cellular component
GO:0005921	gap junction	IEA	cellular component
GO:0005216	ion channel activity	IEA	molecular function
GO:0086077	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling	IEA	molecular function
GO:0086053	AV node cell to bundle of His cell communication by electrical coupling	IEA	biological process
GO:0048738	cardiac muscle tissue development	IEA	biological process
GO:0048468	cell development	IEA	biological process
GO:0016264	gap junction assembly	IEA	biological process
GO:0086077	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling	ISS	molecular function
GO:0086020	gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling	NAS	molecular function
GO:0014704	intercalated disc	TAS	cellular component
GO:0086014	atrial cardiac muscle cell action potential	TAS	biological process
GO:0016264	gap junction assembly	ISS	biological process
GO:0086053	AV node cell to bundle of His cell communication by electrical coupling	ISS	biological process
GO:0086021	SA node cell to atrial cardiac muscle cell communication by electrical coupling	NAS	biological process
GO:0005922	connexin complex	ISS	cellular component
GO:0005921	gap junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0034220	ion transmembrane transport	IEA	biological process

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray