• Gene id: 163882

Gene Summary

• Gene Symbol: CNST   Gene   UCSC   Ensembl
• Aliases: C1orf71, PPP1R64
• Gene name: consortin, connexin sorting protein
• Alternate names: consortin, protein phosphatase 1, regulatory subunit 64,
• Gene location: 1q44 (246566336: 246668594)     Exons: 14     NC_000001.11
• Gene summary(Entrez): Targeting of numerous transmembrane proteins to the cell surface is thought to depend on their recognition by cargo receptors that interact with the adaptor machinery for anterograde traffic at the distal end of the Golgi complex. Consortin (CNST) is an i
• OMIM: 613439

Protein Summary

• Protein general information: Q6PJW8  
  • Name: Consortin
  • Length: 725  
  • Mass: 79597
• Sequence:

  MDDSDTPTYYLQIEPQDGCHPGDSVERSVTCLPSASDENENQLDGDGHEHLTSSDSAMGKPQVSEQDSLNNNESC
  TLSCEVAAGENLQNTLCEASRDEQAFLGKDKKIPGKRSPRSKKGTAKKIPPGLFSGDIAPLMQEKVLSAVTYAVD
  DEEAAEVNANEQPEAPKLVLQSLFSLIRGEVEQLDSRALPLCLHQIAESYFQEEDYEKAMKFIQLERLYHEQLLA
  NLSAIQEQWETKWKTVQPHTVTALRNSEKGFNGEDFERLTKICATHQDPLLSKHKIAAVEKSQERKCSTQLLVSE
  DPKEGGATTKESESKTCLGTESSKESQHTVEPLGSSPCCHQMDVQTDSPSLSVTAGKDHMEELLCSAEATLALHT
  QSSETAGSPSGPDSSEDACEDDSRLQLAQTEACQDVARIEGIAEDPKVFLSSKSKTEPLISPGCDRIPPALISEG
  KYSQAQRKELRLPLRDASEALPTDQLENNELNELQQPDLTDSDGKSPQAQADSDGSENVLCGNNQISDLGILLPE
  VCMAPEEKGDKDDQLNKETEDYLNSLLEGCLKDTEDSLSYEDNQDDDSDLLQDLSPEEASYSLQENLPSDESCLS
  LDDLAKRIEIAEVVPTEGLVSILKKRNDTVGDHPAQMQHKPSKRRVRFQEIDDSLDQDEVGGGSCILLVLLCIAT
  VFLSVGGTALYCTFGDMESPVCTDFADNMDFYYTKLLQGVAELKHWIYLS

• Structural information:
  • Interpro: IPR042318  IPR028129  
  • STRING: ENSP00000355470
• Other Databases: GeneCards:  CNST  Malacards:  CNST

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005802	trans-Golgi network	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0030133	transport vesicle	IBA	cellular component
GO:0042998	positive regulation of Golgi to plasma membrane protein transport	IBA	biological process
GO:0071253	connexin binding	IBA	molecular function
GO:0019902	phosphatase binding	IDA	molecular function
GO:0010923	negative regulation of phosphatase activity	IDA	biological process
GO:0005802	trans-Golgi network	IEA	cellular component
GO:0042998	positive regulation of Golgi to plasma membrane protein transport	IEA	biological process
GO:0071253	connexin binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0032991	protein-containing complex	IDA	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071253	connexin binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0030133	transport vesicle	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0030133	transport vesicle	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0071253	connexin binding	ISS	molecular function
GO:0042998	positive regulation of Golgi to plasma membrane protein transport	IMP	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq