Human Gene NPLOC4 (ENST00000331134.11_7) from GENCODE V47lift37
  Description: NPL4 homolog, ubiquitin recognition factor, transcript variant 1 (from RefSeq NM_017921.4)
Gencode Transcript: ENST00000331134.11_7
Gencode Gene: ENSG00000182446.15_12
Transcript (Including UTRs)
   Position: hg19 chr17:79,523,913-79,604,138 Size: 80,226 Total Exon Count: 17 Strand: -
Coding Region
   Position: hg19 chr17:79,526,285-79,603,956 Size: 77,672 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:79,523,913-79,604,138)mRNA (may differ from genome)Protein (608 aa)
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UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NPL4_HUMAN
DESCRIPTION: RecName: Full=Nuclear protein localization protein 4 homolog; Short=Protein NPL4;
FUNCTION: The ternary complex containing UFD1L, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the proteasome. The NPLOC4-UFD1L-VCP complex regulates spindle disassembly at the end of mitosis and is necessary for the formation of a closed nuclear envelope (By similarity).
PATHWAY: Protein degradation; proteasomal ubiquitin-dependent pathway.
SUBUNIT: Heterodimer with UFD1L. The heterodimer binds ubiquitinated proteins. The heterodimer binds to VCP and inhibits Golgi membrane fusion.
SUBCELLULAR LOCATION: Cytoplasm, cytosol (By similarity). Endoplasmic reticulum (By similarity). Nucleus (By similarity). Note=Associated with the endoplasmic reticulum and nuclear (By similarity).
TISSUE SPECIFICITY: Expressed at highest levels in brain, heart, skeletal muscle, kidney and fetal liver.
DOMAIN: Binds ubiquitinated proteins via its RanBP2-type zinc finger.
SIMILARITY: Belongs to the NPL4 family.
SIMILARITY: Contains 1 RanBP2-type zinc finger.
SEQUENCE CAUTION: Sequence=BAA91314.1; Type=Erroneous initiation; Sequence=BAA96023.1; Type=Erroneous initiation; Sequence=BAB14372.1; Type=Erroneous initiation; Sequence=BAB14499.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NPLOC4
Diseases sorted by gene-association score: dementia, frontotemporal (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 27.29 RPKM in Muscle - Skeletal
Total median expression: 643.48 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -100.80182-0.554 Picture PostScript Text
3' UTR -966.002372-0.407 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007717 - NPL4
IPR024682 - Npl4_Ub-like_dom
IPR007716 - NPL4_Zn-bd_put
IPR016563 - PolyUb_recognition_cplx_Npl4
IPR001876 - Znf_RanBP2

Pfam Domains:
PF00641 - Zn-finger in Ran binding protein and others
PF05020 - NPL4 family, putative zinc binding region
PF05021 - NPL4 family
PF11543 - Nuclear pore localisation protein NPL4

SCOP Domains:
54236 - Ubiquitin-like
90209 - Ran binding protein zinc finger-like

ModBase Predicted Comparative 3D Structure on Q8TAT6
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0031625 ubiquitin protein ligase binding
GO:0043130 ubiquitin binding
GO:0046872 metal ion binding

Biological Process:
GO:0006511 ubiquitin-dependent protein catabolic process
GO:0007030 Golgi organization
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process
GO:0030970 retrograde protein transport, ER to cytosol
GO:0032480 negative regulation of type I interferon production
GO:0039536 negative regulation of RIG-I signaling pathway
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process
GO:0070987 error-free translesion synthesis

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005829 cytosol
GO:0034098 VCP-NPL4-UFD1 AAA ATPase complex
GO:0036501 UFD1-NPL4 complex
GO:0042175 nuclear outer membrane-endoplasmic reticulum membrane network


-  Descriptions from all associated GenBank mRNAs
  AK000664 - Homo sapiens cDNA FLJ20657 fis, clone KAT01069.
AK023272 - Homo sapiens cDNA FLJ13210 fis, clone NT2RP4000528, weakly similar to NPL4 PROTEIN.
AK023046 - Homo sapiens cDNA FLJ12984 fis, clone NT2RP3000047, weakly similar to NPL4 PROTEIN.
BC025930 - Homo sapiens nuclear protein localization 4 homolog (S. cerevisiae), mRNA (cDNA clone MGC:31840 IMAGE:5017718), complete cds.
AL834300 - Homo sapiens mRNA; cDNA DKFZp762C213 (from clone DKFZp762C213).
DQ895356 - Synthetic construct Homo sapiens clone IMAGE:100009816; FLH183590.01L; RZPDo839E05141D nuclear protein localization 4 homolog (S. cerevisiae) (NPLOC4) gene, encodes complete protein.
AB040932 - Homo sapiens mRNA for KIAA1499 protein, partial cds.
AK294473 - Homo sapiens cDNA FLJ57969 complete cds, highly similar to Nuclear protein localization protein 4 homolog.
AB462921 - Synthetic construct DNA, clone: pF1KSDA1499, Homo sapiens NPLOC4 gene for nuclear protein localization 4 homolog, without stop codon, in Flexi system.
AL133629 - Homo sapiens mRNA; cDNA DKFZp434N1223 (from clone DKFZp434N1223).
AK074322 - Homo sapiens cDNA FLJ23742 fis, clone HEP15403.
BC013406 - Homo sapiens nuclear protein localization 4 homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:2967712).
AK024398 - Homo sapiens cDNA FLJ14336 fis, clone PLACE4000487.
JD111029 - Sequence 92053 from Patent EP1572962.
JD384580 - Sequence 365604 from Patent EP1572962.
JD181370 - Sequence 162394 from Patent EP1572962.
JD026733 - Sequence 7757 from Patent EP1572962.
JD032424 - Sequence 13448 from Patent EP1572962.
DQ595391 - Homo sapiens piRNA piR-61503, complete sequence.
JD409904 - Sequence 390928 from Patent EP1572962.
JD364689 - Sequence 345713 from Patent EP1572962.
JD115509 - Sequence 96533 from Patent EP1572962.
JD162232 - Sequence 143256 from Patent EP1572962.
JD275797 - Sequence 256821 from Patent EP1572962.
JD130871 - Sequence 111895 from Patent EP1572962.
JD532429 - Sequence 513453 from Patent EP1572962.
JD547442 - Sequence 528466 from Patent EP1572962.
JD387890 - Sequence 368914 from Patent EP1572962.
JD419948 - Sequence 400972 from Patent EP1572962.
DQ587568 - Homo sapiens piRNA piR-54680, complete sequence.
JD189236 - Sequence 170260 from Patent EP1572962.
JD143160 - Sequence 124184 from Patent EP1572962.
JD257503 - Sequence 238527 from Patent EP1572962.
JD289368 - Sequence 270392 from Patent EP1572962.
JD201037 - Sequence 182061 from Patent EP1572962.
JD273512 - Sequence 254536 from Patent EP1572962.
JD449500 - Sequence 430524 from Patent EP1572962.
LF209447 - JP 2014500723-A/16950: Polycomb-Associated Non-Coding RNAs.
JD445160 - Sequence 426184 from Patent EP1572962.
JD533390 - Sequence 514414 from Patent EP1572962.
JD300196 - Sequence 281220 from Patent EP1572962.
JD229069 - Sequence 210093 from Patent EP1572962.
JD403660 - Sequence 384684 from Patent EP1572962.
JD442099 - Sequence 423123 from Patent EP1572962.
LF328577 - JP 2014500723-A/136080: Polycomb-Associated Non-Coding RNAs.
JD515628 - Sequence 496652 from Patent EP1572962.
AK311741 - Homo sapiens cDNA, FLJ18783.
LF328578 - JP 2014500723-A/136081: Polycomb-Associated Non-Coding RNAs.
JD115726 - Sequence 96750 from Patent EP1572962.
JD189289 - Sequence 170313 from Patent EP1572962.
JD098599 - Sequence 79623 from Patent EP1572962.
JD452087 - Sequence 433111 from Patent EP1572962.
LF328579 - JP 2014500723-A/136082: Polycomb-Associated Non-Coding RNAs.
JD480650 - Sequence 461674 from Patent EP1572962.
JD483234 - Sequence 464258 from Patent EP1572962.
JD110561 - Sequence 91585 from Patent EP1572962.
JD387557 - Sequence 368581 from Patent EP1572962.
MA564154 - JP 2018138019-A/136080: Polycomb-Associated Non-Coding RNAs.
MA564155 - JP 2018138019-A/136081: Polycomb-Associated Non-Coding RNAs.
MA564156 - JP 2018138019-A/136082: Polycomb-Associated Non-Coding RNAs.
MA445024 - JP 2018138019-A/16950: Polycomb-Associated Non-Coding RNAs.
DQ587272 - Homo sapiens piRNA piR-54384, complete sequence.
DQ575019 - Homo sapiens piRNA piR-43131, complete sequence.
JD210693 - Sequence 191717 from Patent EP1572962.
JD484913 - Sequence 465937 from Patent EP1572962.
JD484762 - Sequence 465786 from Patent EP1572962.
JD462697 - Sequence 443721 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8TAT6 (Reactome details) participates in the following event(s):

R-HSA-5654985 SPRTN recruits VCP to monoUb:K164-PCNA associated with POLH
R-HSA-5654989 SPRTN:VCP-mediated release of POLH from monoUb:K164-PCNA
R-HSA-110320 Translesion Synthesis by POLH
R-HSA-110313 Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template
R-HSA-73893 DNA Damage Bypass
R-HSA-73894 DNA Repair

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000331134.1, ENST00000331134.10, ENST00000331134.2, ENST00000331134.3, ENST00000331134.4, ENST00000331134.5, ENST00000331134.6, ENST00000331134.7, ENST00000331134.8, ENST00000331134.9, KIAA1499, NM_017921, NPL4, NPL4_HUMAN, Q8N3J1, Q8TAT6, Q9H8V2, Q9H964, Q9NWR5, Q9P229, uc317tdf.1, uc317tdf.2
UCSC ID: ENST00000331134.11_7
RefSeq Accession: NM_017921.4
Protein: Q8TAT6 (aka NPL4_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.