Human Gene UBQLN1 (ENST00000376395.9_13) from GENCODE V47lift37
  Description: ubiquilin 1, transcript variant 1 (from RefSeq NM_013438.5)
Gencode Transcript: ENST00000376395.9_13
Gencode Gene: ENSG00000135018.14_14
Transcript (Including UTRs)
   Position: hg19 chr9:86,274,883-86,322,873 Size: 47,991 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr9:86,276,702-86,322,594 Size: 45,893 Coding Exon Count: 11 

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 (chr9:86,274,883-86,322,873)mRNA (may differ from genome)Protein (589 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: UBQL1_HUMAN
DESCRIPTION: RecName: Full=Ubiquilin-1; AltName: Full=Protein linking IAP with cytoskeleton 1; Short=PLIC-1; Short=hPLIC-1;
FUNCTION: Links CD47 to the cytoskeleton. Promotes the surface expression of GABA-A receptors (By similarity). Promotes the accumulation of uncleaved PSEN1 and PSEN2 by stimulating their biosynthesis. Has no effect on PSEN1 and PSEN2 degradation.
SUBUNIT: Binds CD47, NBL1, GABRA1, GABRA2, GABRA3, GABRA6, GABRB1, GABRB2 and GABRB3 (By similarity). Binds UBE3A, BTRC, P4HB, MTOR, PSEN1 and PSEN2. Interacts with the proteasome 19S subunit.
SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
TISSUE SPECIFICITY: Ubiquitous. Highly expressed throughout the brain; detected in neurons and in neuropathological lesions, such as neurofibrillary tangles and Lewy bodies. Highly expressed in heart, placenta, pancreas, lung, liver, skeletal muscle and kidney.
DOMAIN: Binds PSEN1 and PSEN2 via its UBA domain.
PTM: Phosphorylated.
SIMILARITY: Contains 1 UBA domain.
SIMILARITY: Contains 1 ubiquitin-like domain.

-  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: UBQLN1
Diseases sorted by gene-association score: brown-vialetto-van laere syndrome (12), alzheimer disease (2)

-  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: 40.98 RPKM in Muscle - Skeletal
Total median expression: 1511.57 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 -129.00279-0.462 Picture PostScript Text
3' UTR -438.401819-0.241 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
IPR016024 - ARM-type_fold
IPR006636 - STI1_HS-bd
IPR009060 - UBA-like
IPR000449 - UBA/transl_elong_EF1B_N
IPR015940 - UBA/transl_elong_EF1B_N_euk
IPR015496 - Ubiquilin
IPR000626 - Ubiquitin
IPR019955 - Ubiquitin_supergroup

Pfam Domains:
PF00240 - Ubiquitin family
PF00627 - UBA/TS-N domain
PF11976 - Ubiquitin-2 like Rad60 SUMO-like
PF13881 - Ubiquitin-2 like Rad60 SUMO-like

SCOP Domains:
48179 - 6-phosphogluconate dehydrogenase C-terminal domain-like
48371 - ARM repeat
101238 - XPC-binding domain
46934 - UBA-like
54236 - Ubiquitin-like
54277 - CAD & PB1 domains

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2JY5 - NMR MuPIT 2JY6 - NMR MuPIT 2KLC - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q9UMX0
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 orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGD  WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0019900 kinase binding
GO:0031593 polyubiquitin binding
GO:0042802 identical protein binding

Biological Process:
GO:0000045 autophagosome assembly
GO:0006914 autophagy
GO:0016236 macroautophagy
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process
GO:0031396 regulation of protein ubiquitination
GO:0031398 positive regulation of protein ubiquitination
GO:0034140 negative regulation of toll-like receptor 3 signaling pathway
GO:0034976 response to endoplasmic reticulum stress
GO:0035973 aggrephagy
GO:0071456 cellular response to hypoxia
GO:0097352 autophagosome maturation
GO:1901340 negative regulation of store-operated calcium channel activity
GO:1902175 regulation of oxidative stress-induced intrinsic apoptotic signaling pathway
GO:1903071 positive regulation of ER-associated ubiquitin-dependent protein catabolic process

Cellular Component:
GO:0000502 proteasome complex
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005776 autophagosome
GO:0005783 endoplasmic reticulum
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016235 aggresome
GO:0031410 cytoplasmic vesicle
GO:0032991 macromolecular complex
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  LF384925 - JP 2014500723-A/192428: Polycomb-Associated Non-Coding RNAs.
AK125815 - Homo sapiens cDNA FLJ43827 fis, clone TESTI4002754.
BC039294 - Homo sapiens ubiquilin 1, mRNA (cDNA clone MGC:39500 IMAGE:5263680), complete cds.
AB209468 - Homo sapiens mRNA for ubiquilin 1 isoform 1 variant protein.
LF331811 - JP 2014500723-A/139314: Polycomb-Associated Non-Coding RNAs.
LF331812 - JP 2014500723-A/139315: Polycomb-Associated Non-Coding RNAs.
LF331813 - JP 2014500723-A/139316: Polycomb-Associated Non-Coding RNAs.
AK027576 - Homo sapiens cDNA FLJ14670 fis, clone NT2RP2003272, highly similar to Ubiquilin-1.
AL136643 - Homo sapiens mRNA; cDNA DKFZp564L023 (from clone DKFZp564L023).
AB035275 - Homo sapiens DA41 mRNA, complete cds.
JD293736 - Sequence 274760 from Patent EP1572962.
JD358895 - Sequence 339919 from Patent EP1572962.
JD038677 - Sequence 19701 from Patent EP1572962.
JD026118 - Sequence 7142 from Patent EP1572962.
JD433965 - Sequence 414989 from Patent EP1572962.
JD032054 - Sequence 13078 from Patent EP1572962.
JD303634 - Sequence 284658 from Patent EP1572962.
JD502758 - Sequence 483782 from Patent EP1572962.
JD155580 - Sequence 136604 from Patent EP1572962.
BC010066 - Homo sapiens ubiquilin 1, mRNA (cDNA clone MGC:19622 IMAGE:4110398), complete cds.
AK027556 - Homo sapiens cDNA FLJ14650 fis, clone NT2RP2002185, highly similar to Ubiquilin-1.
JD454991 - Sequence 436015 from Patent EP1572962.
JD088720 - Sequence 69744 from Patent EP1572962.
LF331814 - JP 2014500723-A/139317: Polycomb-Associated Non-Coding RNAs.
JD303243 - Sequence 284267 from Patent EP1572962.
HM005532 - Homo sapiens clone HTL-T-219 testicular tissue protein Li 219 mRNA, complete cds.
AF176069 - Homo sapiens ubiquilin mRNA, complete cds.
AF293384 - Homo sapiens PLIC-1 mRNA, complete cds.
AB528730 - Synthetic construct DNA, clone: pF1KB9906, Homo sapiens UBQLN1 gene for ubiquilin 1, without stop codon, in Flexi system.
BC017289 - Homo sapiens ubiquilin 1, mRNA (cDNA clone IMAGE:4902881), **** WARNING: chimeric clone ****.
AK074535 - Homo sapiens cDNA FLJ90054 fis, clone HEMBA1002992.
LF331817 - JP 2014500723-A/139320: Polycomb-Associated Non-Coding RNAs.
LF331818 - JP 2014500723-A/139321: Polycomb-Associated Non-Coding RNAs.
LF331820 - JP 2014500723-A/139323: Polycomb-Associated Non-Coding RNAs.
LF331823 - JP 2014500723-A/139326: Polycomb-Associated Non-Coding RNAs.
JD406023 - Sequence 387047 from Patent EP1572962.
JD099133 - Sequence 80157 from Patent EP1572962.
JD536979 - Sequence 518003 from Patent EP1572962.
JD403161 - Sequence 384185 from Patent EP1572962.
JD223606 - Sequence 204630 from Patent EP1572962.
JD152851 - Sequence 133875 from Patent EP1572962.
JD465427 - Sequence 446451 from Patent EP1572962.
JD392879 - Sequence 373903 from Patent EP1572962.
JD099075 - Sequence 80099 from Patent EP1572962.
JD443877 - Sequence 424901 from Patent EP1572962.
MA620502 - JP 2018138019-A/192428: Polycomb-Associated Non-Coding RNAs.
MA567388 - JP 2018138019-A/139314: Polycomb-Associated Non-Coding RNAs.
MA567389 - JP 2018138019-A/139315: Polycomb-Associated Non-Coding RNAs.
MA567390 - JP 2018138019-A/139316: Polycomb-Associated Non-Coding RNAs.
MA567391 - JP 2018138019-A/139317: Polycomb-Associated Non-Coding RNAs.
MA567394 - JP 2018138019-A/139320: Polycomb-Associated Non-Coding RNAs.
MA567395 - JP 2018138019-A/139321: Polycomb-Associated Non-Coding RNAs.
MA567397 - JP 2018138019-A/139323: Polycomb-Associated Non-Coding RNAs.
MA567400 - JP 2018138019-A/139326: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_gabaPathway - Gamma-aminobutyric Acid Receptor Life Cycle

Reactome (by CSHL, EBI, and GO)

Protein Q9UMX0 (Reactome details) participates in the following event(s):

R-HSA-8866275 UBQLNs bind UIM-containing adaptor proteins
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: A0A024R284, DA41, ENST00000376395.1, ENST00000376395.2, ENST00000376395.3, ENST00000376395.4, ENST00000376395.5, ENST00000376395.6, ENST00000376395.7, ENST00000376395.8, NM_013438, PLIC1, Q5T6J5, Q5T6J9, Q8IXS9, Q8N2Q3, Q9H0T8, Q9H3R4, Q9HAZ5, Q9UMX0, UBQL1_HUMAN, uc318mxl.1, uc318mxl.2
UCSC ID: ENST00000376395.9_13
RefSeq Accession: NM_013438.5
Protein: Q9UMX0 (aka UBQL1_HUMAN or UBQ1_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.