• Gene id: 51371

Gene Summary

• Gene Symbol: POMP   Gene   UCSC   Ensembl
• Aliases: C13orf12, HSPC014, PNAS-110, PRAAS2, UMP1
• Gene name: proteasome maturation protein
• Alternate names: proteasome maturation protein, 2510048O06Rik, hUMP1, proteassemblin, protein UMP1 homolog, voltage-gated K channel beta subunit 4.1, voltage-gated potassium channel beta subunit 4.1,
• Gene location: 13q12.3 (28659129: 28678958)     Exons: 6     NC_000013.11
• Gene summary(Entrez): The protein encoded by this gene is a molecular chaperone that binds 20S preproteasome components and is essential for 20S proteasome formation. The 20S proteasome is the proteolytically active component of the 26S proteasome complex. The encoded protein
• OMIM: 613386

Protein Summary

• Protein general information: Q9Y244  
  • Name: Proteasome maturation protein (Proteassemblin) (Protein UMP1 homolog) (hUMP1) (Voltage gated K channel beta subunit 4.1)
  • Length: 141  
  • Mass: 15789
  • Tissue specificity: Strongly expressed from the basal layer to the granular layer of healthy epidermis, whereas in KLICK patients there is a gradual decrease of expression toward the granular layer. {ECO
• Sequence:

  MNARGLGSELKDSIPVTELSASGPFESHDLLRKGFSCVKNELLPSHPLELSEKNFQLNQDKMNFSTLRNIQGLFA
  PLKLQMEFKAVQQVQRLPFLSSSNLSLDVLRGNDETIGFEDILNDPSQSEVMGEPHLMVEYKLGLL

• Structural information:
  • Interpro: IPR008012  
  • STRING: ENSP00000370222
• Other Databases: GeneCards:  POMP  Malacards:  POMP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043248	proteasome assembly	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0043248	proteasome assembly	IMP	biological process
GO:0043248	proteasome assembly	IEA	biological process
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	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: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:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0031090	organelle membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03050	Proteasome

Diseases

Associated diseases	References
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma	KEGG:H00790
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma	KEGG:H00790
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
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