• Gene id: 55666

Gene Summary

• Gene Symbol: NPLOC4   Gene   UCSC   Ensembl
• Aliases: NPL4
• Gene name: NPL4 homolog, ubiquitin recognition factor
• Alternate names: nuclear protein localization protein 4 homolog, NPLOC4 ubiquitin recognition factor, nuclear protein localization 4 homolog,
• Gene location: 17q25.3 (81637147: 81556884)     Exons: 21     NC_000017.11
• OMIM: 616475

Protein Summary

• Protein general information: Q8TAT6  
  • Name: Nuclear protein localization protein 4 homolog (Protein NPL4)
  • Length: 608  
  • Mass: 68120
  • Tissue specificity: Expressed at highest levels in brain, heart, skeletal muscle, kidney and fetal liver. {ECO
• Sequence:

  MAESIIIRVQSPDGVKRITATKRETAATFLKKVAKEFGFQNNGFSVYINRNKTGEITASSNKSLNLLKIKHGDLL
  FLFPSSLAGPSSEMETSVPPGFKVFGAPNVVEDEIDQYLSKQDGKIYRSRDPQLCRHGPLGKCVHCVPLEPFDED
  YLNHLEPPVKHMSFHAYIRKLTGGADKGKFVALENISCKIKSGCEGHLPWPNGICTKCQPSAITLNRQKYRHVDN
  IMFENHTVADRFLDFWRKTGNQHFGYLYGRYTEHKDIPLGIRAEVAAIYEPPQIGTQNSLELLEDPKAEVVDEIA
  AKLGLRKVGWIFTDLVSEDTRKGTVRYSRNKDTYFLSSEECITAGDFQNKHPNMCRLSPDGHFGSKFVTAVATGG
  PDNQVHFEGYQVSNQCMALVRDECLLPCKDAPELGYAKESSSEQYVPDVFYKDVDKFGNEITQLARPLPVEYLII
  DITTTFPKDPVYTFSISQNPFPIENRDVLGETQDFHSLATYLSQNTSSVFLDTISDFHLLLFLVTNEVMPLQDSI
  SLLLEAVRTRNEELAQTWKRSEQWATIEQLCSTVGGQLPGLHEYGAVGGSTHTATAAMWACQHCTFMNQPGTGHC
  EMCSLPRT

• Structural information:
  • Protein Domains: (226..36-)
    (/note="MPN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01182"-)
  • Interpro: IPR037518  IPR016563  IPR007717  IPR024682  IPR007716   IPR029071  IPR001876  IPR036443  
  • Prosite: PS50249 PS01358 PS50199
  • CDD: cd08061
  • DIP: 44059
  • STRING: ENSP00000331487
• Other Databases: GeneCards:  NPLOC4  Malacards:  NPLOC4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0036501	UFD1-NPL4 complex	IPI	cellular component
GO:0034098	VCP-NPL4-UFD1 AAA ATPase complex	ISS	cellular component
GO:0030970	retrograde protein transport, ER to cytosol	IMP	biological process
GO:0007030	Golgi organization	ISS	biological process
GO:0005783	endoplasmic reticulum	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0042175	nuclear outer membrane-endoplasmic reticulum membrane network	ISS	cellular component
GO:0030433	ubiquitin-dependent ERAD pathway	ISS	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0031625	ubiquitin protein ligase binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0043130	ubiquitin binding	IBA	molecular function
GO:0034098	VCP-NPL4-UFD1 AAA ATPase complex	IDA	cellular component
GO:0006511	ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0032480	negative regulation of type I interferon production	IMP	biological process
GO:0039536	negative regulation of RIG-I signaling pathway	IMP	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0070987	error-free translesion synthesis	TAS	biological process
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:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0005634	nucleus	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray