• Gene id: 8624

Gene Summary

• Gene Symbol: PSMG1   Gene   UCSC   Ensembl
• Aliases: C21LRP, DSCR2, LRPC21, PAC-1, PAC1
• Gene name: proteasome assembly chaperone 1
• Alternate names: proteasome assembly chaperone 1, Down syndrome critical region gene 2, Down syndrome critical region protein 2, chromosome 21 leucine-rich protein, leucine rich protein C21-LRP, proteasome (prosome, macropain) assembly chaperone 1, proteasome assembling chapero,
• Gene location: 21q22.2 (39183513: 39174768)     Exons: 7     NC_000021.9
• OMIM: 605296

Protein Summary

• Protein general information: O95456  
  • Name: Proteasome assembly chaperone 1 (PAC 1) (Chromosome 21 leucine rich protein) (C21 LRP) (Down syndrome critical region protein 2)
  • Length: 288  
  • Mass: 32854
  • Tissue specificity: In the adult, detected in brain, colon, leukocytes, breast and testis. Widely expressed in the fetus. Also expressed in a variety of proliferating cell lines. {ECO
• Sequence:

  MAATFFGEVVKAPCRAGTEDEEEEEEGRRETPEDREVRLQLARKREVRLLRRQTKTSLEVSLLEKYPCSKFIIAI
  GNNAVAFLSSFVMNSGVWEEVGCAKLWNEWCRTTDTTHLSSTEAFCVFYHLKSNPSVFLCQCSCYVAEDQQYQWL
  EKVFGSCPRKNMQITILTCRHVTDYKTSESTGSLPSPFLRALKTQNFKDSACCPLLEQPNIVHDLPAAVLSYCQV
  WKIPAILYLCYTDVMKLDLITVEAFKPILSTRSLKGLVKNIPQSTEILKKLMTTNEIQSNIYT

• Structural information:
  • Interpro: IPR016565  
  • STRING: ENSP00000329915
• Other Databases: GeneCards:  PSMG1  Malacards:  PSMG1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0080129	proteasome core complex assembly	IBA	biological process
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0070628	proteasome binding	IBA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0043248	proteasome assembly	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0021930	cerebellar granule cell precursor proliferation	IEA	biological process
GO:0080129	proteasome core complex assembly	IEA	biological process
GO:0070628	proteasome binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0051131	chaperone-mediated protein complex assembly	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0101031	chaperone complex	IDA	cellular component
GO:0060090	molecular adaptor activity	IDA	molecular function
GO:0005634	nucleus	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051131	chaperone-mediated protein complex assembly	IGI	biological process
GO:0060090	molecular adaptor activity	IGI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray