NPLOC4

NPLOC4
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2PJH
Identifiers
Aliases	NPLOC4 , NPL4, NPL4 homolog, ubiquitin recognition factor
External IDs	OMIM: 606590 MGI: 2679787 HomoloGene: 5403 GeneCards: NPLOC4
Gene location (Human) Chr. Chromosome 17 (human) [1] Band 17q25.3 Start 81,556,887 bp [1] End 81,648,465 bp [1]
Gene location (Mouse) Chr. Chromosome 11 (mouse) [2] Band 11|11 E2 Start 120,271,196 bp [2] End 120,328,534 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastrocnemius muscle stromal cell of endometrium right coronary artery islet of Langerhans left ventricle right adrenal gland ascending aorta left adrenal gland sural nerve monocyte Top expressed in spermatocyte cumulus cell interventricular septum ascending aorta aortic valve spermatid supraoptic nucleus seminiferous tubule lip somite More reference expression data BioGPS More reference expression data
Gene ontology Molecular function ubiquitin binding protein binding metal ion binding ubiquitin protein ligase binding Cellular component cytoplasm cytosol nuclear outer membrane-endoplasmic reticulum membrane network endoplasmic reticulum nucleus UFD1-NPL4 complex nucleoplasm VCP-NPL4-UFD1 AAA ATPase complex Biological process error-free translesion synthesis retrograde protein transport, ER to cytosol Golgi organization ubiquitin-dependent ERAD pathway proteasome-mediated ubiquitin-dependent protein catabolic process negative regulation of type I interferon production negative regulation of RIG-I signaling pathway ubiquitin-dependent protein catabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 55666 217365 Ensembl ENSG00000182446 ENSMUSG00000039703 UniProt Q8TAT6 P60670 RefSeq (mRNA) NM_017921 NM_001369698 NM_001195023 NM_199469 RefSeq (protein) NP_060391 NP_001356627 NP_060391.2 NP_001181952 NP_955763 Location (UCSC) Chr 17: 81.56 – 81.65 Mb Chr 11: 120.27 – 120.33 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Nuclear protein localization protein 4 homolog is a protein that in humans is encoded by the NPLOC4 gene. ^{[5] [6] [7]}

Model organisms

Nploc4 knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Abnormal
Recessive lethal study	Abnormal
Fertility	Normal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Plasma immunoglobulins	Normal
Haematology	Normal
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Normal
Skin Histopathology	Normal
Brain histopathology	Normal
Salmonella infection	Normal [8]
Citrobacter infection	Normal [9]
All tests and analysis from [10] [11]

Model organisms have been used in the study of NPLOC4 function. A conditional knockout mouse line, called Nploc4^{tm1a(EUCOMM)Wtsi [12] [13]} was generated as part of the International Knockout Mouse Consortium program—a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists—at the Wellcome Trust Sanger Institute. ^{[14] [15] [16]}

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. ^{[10] [17]} Twenty six tests were carried out and two phenotypes were reported. No homozygous mutant embryos were identified during gestation, and therefore none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice; no significant abnormalities were observed in these animals. ^[10]

Interactions

NPLOC4 has been shown to interact with UFD1L. ^{[5] [18]}

References

1. GRCh38: Ensembl release 89: ENSG00000182446 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000039703 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Botta A, Tandoi C, Fini G, Calabrese G, Dallapiccola B, Novelli G (Sep 2001). "Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L)". Gene. 275 (1): 39–46. doi:10.1016/S0378-1119(01)00649-7. PMID   11574150.
6. Meyer HH, Shorter JG, Seemann J, Pappin D, Warren G (Jun 2000). "A complex of mammalian Ufd1 and Npl4 links the AAA-ATPase, p97, to ubiquitin and nuclear transport pathways". EMBO J. 19 (10): 2181–92. doi:10.1093/emboj/19.10.2181. PMC   384367 . PMID   10811609.
7. "Entrez Gene: NPLOC4 nuclear protein localization 4 homolog (S. cerevisiae)".
8. "Salmonella infection data for Nploc4". Wellcome Trust Sanger Institute.
9. "Citrobacter infection data for Nploc4". Wellcome Trust Sanger Institute.
10. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x. S2CID   85911512.
11. Mouse Resources Portal, Wellcome Trust Sanger Institute.
12. "International Knockout Mouse Consortium".
13. "Mouse Genome Informatics".
14. Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC   3572410 . PMID   21677750.
15. Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi: 10.1038/474262a . PMID   21677718.
16. Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi: 10.1016/j.cell.2006.12.018 . PMID   17218247. S2CID   18872015.
17. van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi: 10.1186/gb-2011-12-6-224 . PMC   3218837 . PMID   21722353.
18. Lass A, McConnell E, Fleck K, Palamarchuk A, Wójcik C (Aug 2008). "Analysis of Npl4 deletion mutants in mammalian cells unravels new Ufd1-interacting motifs and suggests a regulatory role of Npl4 in ERAD". Exp. Cell Res. 314 (14): 2715–23. doi:10.1016/j.yexcr.2008.06.008. PMID   18586029.

Further reading

• McConnell E, Lass A, Wójcik C (2007). "Ufd1-Npl4 is a negative regulator of cholera toxin retrotranslocation". Biochem. Biophys. Res. Commun. 355 (4): 1087–90. doi:10.1016/j.bbrc.2007.02.077. PMID   17331469.
• Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J (2004). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nat. Biotechnol. 21 (5): 566–9. doi:10.1038/nbt810. PMID   12665801. S2CID   23783563.
• Nagase T, Kikuno R, Ishikawa K, Hirosawa M, Ohara O (2000). "Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 7 (2): 143–50. doi: 10.1093/dnares/7.2.143 . PMID   10819331.