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Aliases for UBXN1 Gene

Aliases for UBXN1 Gene

  • UBX Domain Protein 1 2 3 5
  • SAPK Substrate Protein 1 2 3 4
  • UBA/UBX 33.3 KDa Protein 3 4
  • SAKS1 3 4
  • UBX Domain-Containing Protein 1 3
  • UBXD10 3
  • 2B28 3

External Ids for UBXN1 Gene

Previous GeneCards Identifiers for UBXN1 Gene

  • GC11M062201
  • GC11M062444
  • GC11M058772
  • GC11M062447
  • GC11M062462
  • GC11M062471
  • GC11M062477
  • GC11M062489
  • GC11M062681
  • GC11M062706
  • GC11M062725
  • GC11M062737
  • GC11M062750
  • GC11M062769

Summaries for UBXN1 Gene

GeneCards Summary for UBXN1 Gene

UBXN1 (UBX Domain Protein 1) is a Protein Coding gene. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism of proteins. GO annotations related to this gene include ubiquitin protein ligase binding and ATPase binding. An important paralog of this gene is UBXN4.

UniProtKB/Swiss-Prot for UBXN1 Gene

  • Ubiquitin-binding protein that interacts with the BRCA1-BARD1 heterodimer, and regulates its activity. Specifically binds Lys-6-linked polyubiquitin chains. Interaction with autoubiquitinated BRCA1, leads to inhibit the E3 ubiquitin-protein ligase activity of the BRCA1-BARD1 heterodimer. Component of a complex required to couple deglycosylation and proteasome-mediated degradation of misfolded proteins in the endoplasmic reticulum that are retrotranslocated in the cytosol.

Additional gene information for UBXN1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UBXN1 Gene

Genomics for UBXN1 Gene

Regulatory Elements for UBXN1 Gene

Enhancers for UBXN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H062838 1.5 ENCODE dbSUPER 83.3 -161.7 -161729 4 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 ZC3H11A NFYC UBXN1 METTL12 WDR74 NXF1 SNHG1 INTS5 LOC105369332 STX5 MTA2 GANAB
GH11H061960 1.8 FANTOM5 ENCODE dbSUPER 47 +710.2 710194 16 MLX ZFP64 DMAP1 YBX1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D UBXN1 LOC105369332 WDR74 INTS5 MTA2 CPSF7 TMEM138 NXF1 EML3 STX5
GH11H062852 1.7 FANTOM5 ENCODE dbSUPER 45 -176.7 -176721 5 HNRNPUL1 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 SNHG1 METTL12 NXF1 MTA2 GANAB INTS5 UBXN1 EML3 STX5 LOC105369332
GH11H062669 1.1 ENCODE 37 +7.6 7629 4 HNRNPUL1 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF766 EML3 WDR74 LOC105369332 GANAB MTA2 STX5 INTS5 METTL12 NXF1 SNHG1
GH11H062664 1.1 ENCODE 28.9 +13.0 13022 3 HNRNPUL1 HDGF MLX ZFP64 ARID4B SIN3A DMAP1 YBX1 YY1 SLC30A9 EML3 METTL12 SNHG1 UBXN1 MTA2 BSCL2 NXF1 INTS5 TMEM179B STX5
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UBXN1 on UCSC Golden Path with GeneCards custom track

Promoters for UBXN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000040459 117 1201 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 DEK SP3

Genomic Location for UBXN1 Gene

Chromosome:
11
Start:
62,676,498 bp from pter
End:
62,679,117 bp from pter
Size:
2,620 bases
Orientation:
Minus strand

Genomic View for UBXN1 Gene

Genes around UBXN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBXN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBXN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBXN1 Gene

Proteins for UBXN1 Gene

  • Protein details for UBXN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q04323-UBXN1_HUMAN
    Recommended name:
    UBX domain-containing protein 1
    Protein Accession:
    Q04323
    Secondary Accessions:
    • Q9BV93
    • Q9BVV5

    Protein attributes for UBXN1 Gene

    Size:
    297 amino acids
    Molecular mass:
    33325 Da
    Quaternary structure:
    • Component of a complex required to couple retrotranslocation, ubiquitination and deglycosylation composed of NGLY1, SAKS1, AMFR, VCP and RAD23B. Interacts with HOMER2 (By similarity). Interacts directly with VCP. Interacts with BRCA1 and BARD1; interaction takes place when BRCA1 is not autoubiquitinated but is strongly enhanced in the presence of autoubiquitinated BRCA1.

    Alternative splice isoforms for UBXN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UBXN1 Gene

Post-translational modifications for UBXN1 Gene

  • Ubiquitination at posLast=8383, Lys105, posLast=154154, Lys178, and posLast=208208
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for UBXN1 Gene

Domains & Families for UBXN1 Gene

Gene Families for UBXN1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for UBXN1 Gene

Graphical View of Domain Structure for InterPro Entry

Q04323

UniProtKB/Swiss-Prot:

UBXN1_HUMAN :
  • The UBA domain specifically recognizes and binds Lys-6-linked polyubiquitin chains.
Domain:
  • The UBA domain specifically recognizes and binds Lys-6-linked polyubiquitin chains.
genes like me logo Genes that share domains with UBXN1: view

Function for UBXN1 Gene

Molecular function for UBXN1 Gene

UniProtKB/Swiss-Prot Function:
Ubiquitin-binding protein that interacts with the BRCA1-BARD1 heterodimer, and regulates its activity. Specifically binds Lys-6-linked polyubiquitin chains. Interaction with autoubiquitinated BRCA1, leads to inhibit the E3 ubiquitin-protein ligase activity of the BRCA1-BARD1 heterodimer. Component of a complex required to couple deglycosylation and proteasome-mediated degradation of misfolded proteins in the endoplasmic reticulum that are retrotranslocated in the cytosol.

Phenotypes From GWAS Catalog for UBXN1 Gene

Gene Ontology (GO) - Molecular Function for UBXN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18775313
GO:0031593 polyubiquitin binding IDA 15362974
GO:0031625 ubiquitin protein ligase binding IDA 18775313
GO:0036435 K48-linked polyubiquitin binding IDA 21135095
GO:0043130 ubiquitin binding IDA 18775313
genes like me logo Genes that share ontologies with UBXN1: view
genes like me logo Genes that share phenotypes with UBXN1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for UBXN1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for UBXN1 Gene

Localization for UBXN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBXN1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UBXN1 gene
Compartment Confidence
cytosol 5
nucleus 4
endoplasmic reticulum 4

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for UBXN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000502 colocalizes_with proteasome complex IDA 15362974
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA,IDA 10942595
GO:0005783 endoplasmic reticulum IDA 21135095
GO:0005829 cytosol TAS,IDA --
genes like me logo Genes that share ontologies with UBXN1: view

Pathways & Interactions for UBXN1 Gene

genes like me logo Genes that share pathways with UBXN1: view

Gene Ontology (GO) - Biological Process for UBXN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding TAS --
GO:0031397 negative regulation of protein ubiquitination IDA 20351172
GO:0032435 negative regulation of proteasomal ubiquitin-dependent protein catabolic process IDA 20351172
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process NAS 15362974
GO:1903094 negative regulation of protein K48-linked deubiquitination IDA 21135095
genes like me logo Genes that share ontologies with UBXN1: view

No data available for SIGNOR curated interactions for UBXN1 Gene

Drugs & Compounds for UBXN1 Gene

No Compound Related Data Available

Transcripts for UBXN1 Gene

Unigene Clusters for UBXN1 Gene

UBX domain protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for UBXN1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for UBXN1 Gene

No ASD Table

Relevant External Links for UBXN1 Gene

GeneLoc Exon Structure for
UBXN1
ECgene alternative splicing isoforms for
UBXN1

Expression for UBXN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UBXN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UBXN1 Gene

This gene is overexpressed in Uterus (6.7), Nasal epithelium (6.6), and Lymph node (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for UBXN1 Gene



Protein tissue co-expression partners for UBXN1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of UBXN1 Gene:

UBXN1

SOURCE GeneReport for Unigene cluster for UBXN1 Gene:

Hs.351296

Evidence on tissue expression from TISSUES for UBXN1 Gene

  • Skin(4.5)
  • Liver(4.4)
  • Intestine(4.3)
  • Nervous system(3.5)
  • Lung(3)
  • Eye(2.4)
genes like me logo Genes that share expression patterns with UBXN1: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for UBXN1 Gene

Orthologs for UBXN1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for UBXN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UBXN1 33 34
  • 99.66 (n)
cow
(Bos Taurus)
Mammalia UBXN1 33 34
  • 92.12 (n)
dog
(Canis familiaris)
Mammalia UBXN1 33 34
  • 90.2 (n)
rat
(Rattus norvegicus)
Mammalia Ubxn1 33
  • 89.11 (n)
mouse
(Mus musculus)
Mammalia Ubxn1 33 16 34
  • 88.66 (n)
oppossum
(Monodelphis domestica)
Mammalia UBXN1 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UBXN1 34
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UBXN1 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ubxn1 33
  • 62.54 (n)
Str.4804 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.1496 33
zebrafish
(Danio rerio)
Actinopterygii ubxn1 33 34 34
  • 59.44 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8209 33 34
  • 50.85 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009841 33
  • 49.05 (n)
worm
(Caenorhabditis elegans)
Secernentea ubxn-1 33 34
  • 28 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBX6 36
bread mold
(Neurospora crassa)
Ascomycetes NCU08955 33
  • 43.53 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1443 34
  • 36 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC17C9.11c 33
Species where no ortholog for UBXN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for UBXN1 Gene

ENSEMBL:
Gene Tree for UBXN1 (if available)
TreeFam:
Gene Tree for UBXN1 (if available)

Paralogs for UBXN1 Gene

Paralogs for UBXN1 Gene

genes like me logo Genes that share paralogs with UBXN1: view

Variants for UBXN1 Gene

Sequence variations from dbSNP and Humsavar for UBXN1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000431842 -- 62,678,813(+) CCGAG(A/G)CAGGT intron-variant
rs1002618667 -- 62,679,624(+) TGGCG(C/T)GATCT upstream-variant-2KB
rs1002630132 -- 62,679,337(+) TATGG(C/T)CCCTT upstream-variant-2KB
rs1002649502 -- 62,677,096(+) CCTTC(C/T)TCTTA intron-variant, downstream-variant-500B
rs1003600648 -- 62,681,101(+) GATTC(A/G)GGATT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for UBXN1 Gene

Variant ID Type Subtype PubMed ID
nsv555174 CNV gain 21841781
nsv832182 CNV gain+loss 17160897

Variation tolerance for UBXN1 Gene

Residual Variation Intolerance Score: 62% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.09; 38.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UBXN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
UBXN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBXN1 Gene

Disorders for UBXN1 Gene

Relevant External Links for UBXN1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UBXN1

No disorders were found for UBXN1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for UBXN1 Gene

Publications for UBXN1 Gene

  1. The UBXN1 protein associates with autoubiquitinated forms of the BRCA1 tumor suppressor and inhibits its enzymatic function. (PMID: 20351172) Wu-Baer F … Baer R (Molecular and cellular biology 2010) 2 3 4 60
  2. UBXD7 binds multiple ubiquitin ligases and implicates p97 in HIF1alpha turnover. (PMID: 18775313) Alexandru G … Deshaies RJ (Cell 2008) 3 4 60
  3. A novel protein specifically interacting with Homer2 regulates ubiquitin-proteasome systems. (PMID: 15944415) Ishibashi T … Sugiyama H (Journal of biochemistry 2005) 3 22 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. A novel UBA and UBX domain protein that binds polyubiquitin and VCP and is a substrate for SAPKs. (PMID: 15362974) McNeill H … Cohen P (The Biochemical journal 2004) 3 4 60

Products for UBXN1 Gene

Sources for UBXN1 Gene

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