• Gene id: 5589

Gene Summary

• Gene Symbol: PRKCSH   Gene   UCSC   Ensembl
• Aliases: AGE-R2, G19P1, GIIB, PCLD, PCLD1, PKCSH, PLD1, VASAP-60
• Gene name: protein kinase C substrate 80K-H
• Alternate names: glucosidase 2 subunit beta, AGE-binding receptor 2, advanced glycation end-product receptor 2, glucosidase II subunit beta, hepatocystin, protein kinase C substrate 60.1 kDa protein heavy chain, protein kinase C substrate, 80 Kda protein,
• Gene location: 19p13.2 (11435256: 11450967)     Exons: 3     NC_000019.10
• Gene summary(Entrez): This gene encodes the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum. The encoded protein is an acidic phosphoprotein known to be a substrate for protein kinase C. Mutations in this gene have been associa
• OMIM: 177060

Protein Summary

• Protein general information: P14314  
  • Name: Glucosidase 2 subunit beta (80K H protein) (Glucosidase II subunit beta) (Protein kinase C substrate 60.1 kDa protein heavy chain) (PKCSH)
  • Length: 528  
  • Mass: 59425
• Sequence:

  MLLPLLLLLPMCWAVEVKRPRGVSLTNHHFYDESKPFTCLDGSATIPFDQVNDDYCDCKDGSDEPGTAACPNGSF
  HCTNTGYKPLYIPSNRVNDGVCDCCDGTDEYNSGVICENTCKEKGRKERESLQQMAEVTREGFRLKKILIEDWKK
  AREEKQKKLIELQAGKKSLEDQVEMLRTVKEEAEKPEREAKEQHQKLWEEQLAAAKAQQEQELAADAFKELDDDM
  DGTVSVTELQTHPELDTDGDGALSEAEAQALLSGDTQTDATSFYDRVWAAIRDKYRSEALPTDLPAPSAPDLTEP
  KEEQPPVPSSPTEEEEEEEEEEEEEAEEEEEEEDSEEAPPPLSPPQPASPAEEDKMPPYDEQTQAFIDAAQEARN
  KFEEAERSLKDMEESIRNLEQEISFDFGPNGEFAYLYSQCYELTTNEYVYRLCPFKLVSQKPKLGGSPTSLGTWG
  SWIGPDHDKFSAMKYEQGTGCWQGPNRSTTVRLLCGKETMVTSTTEPSRCEYLMELMTPAACPEPPPEAPTEDDH
  DEL

• Structural information:
  • Protein Domains: (37..7-)
    A (/note="LDL-receptor-class)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00124-)
    (72..11-)
    A (/note="LDL-receptor-class)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00124-)
    (209..24-)
    (/note="EF-hand-1)
    (/evidence="ECO:000-)
  • Interpro: IPR011992  IPR018247  IPR002048  IPR026874  IPR039794   IPR036055  IPR002172  IPR009011  IPR036607  IPR028146  
  • Prosite: PS00018 PS50222 PS00014
  • CDD: cd00112
  • STRING: ENSP00000466134
• Other Databases: GeneCards:  PRKCSH  Malacards:  PRKCSH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006491	N-glycan processing	IBA	biological process
GO:0001889	liver development	IBA	biological process
GO:0017177	glucosidase II complex	IBA	cellular component
GO:0006491	N-glycan processing	IDA	biological process
GO:0017177	glucosidase II complex	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IMP	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0006491	N-glycan processing	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0006457	protein folding	TAS	biological process
GO:0043687	post-translational protein modification	TAS	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0044325	ion channel binding	IPI	molecular function
GO:0051219	phosphoprotein binding	IPI	molecular function
GO:0005080	protein kinase C binding	IPI	molecular function
GO:0035556	intracellular signal transduction	NAS	biological process
GO:0035556	intracellular signal transduction	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum

Diseases

Associated diseases	References
Polycystic liver disease	KEGG:H00545
Polycystic liver disease	KEGG:H00545
Polycystic liver disease	PMID:15057895
Liver disease	PMID:12529853
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq