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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

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 Calnexin/calreticulin cycle. 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.

No data available for Entrez Gene 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
GH11F062838 1.2 ENCODE 43.2 -161.7 -161729 4.8 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 METTL12 UBXN1 LRRN4CL NXF1 TAF6L INTS5 IMMP1LP1 SNHG1 TTC9C STX5
GH11F061960 1.6 FANTOM5 ENCODE 32.1 +710.2 710194 16.4 CREB3L1 MLX ZFP64 YBX1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC INTS5 UBXN1 METTL12 NXF1 TTC9C MTA2 TMEM138 EML3 STX5 BEST1
GH11F062852 1.5 FANTOM5 ENCODE 32.7 -176.7 -176721 5.9 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC METTL12 INTS5 NXF1 SNHG1 UBXN1 MTA2 EML3 MIR6748 LOC105369332 STX5
GH11F062041 1.4 Ensembl ENCODE 24.1 +633.7 633690 8.1 MLX CREB3L1 ZFP64 DMAP1 FEZF1 YY1 ZNF143 SP3 NFYC MEF2D METTL12 INTS5 SNHG1 NXF1 TMEM138 LOC105369332 VPS37C EML3 MTA2 TAF6L
GH11F061826 1.5 FANTOM5 ENCODE 21.6 +846.7 846748 12.6 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A YY1 ZNF143 FOS FADS2 INTS5 NXF1 UBXN1 METTL12 MTA2 FADS1 TMEM138 EML3 TMEM109
- 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
ENSR00001570675 217 1401 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 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 Lys 83, Lys 105, Lys 154, Lys 178, and Lys 208
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for UBXN1 Gene

Domains & Families for UBXN1 Gene

Gene Families for UBXN1 Gene

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.
  • Contains 1 UBA domain.
  • Contains 1 UBX domain.
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.

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

Inhibitory RNA Products

Flow Cytometry Products

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

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 IDA 21135095
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: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
GO:1904293 negative regulation of ERAD pathway IMP 21135095
genes like me logo Genes that share ontologies with UBXN1: view

No data available for SIGNOR curated interactions for UBXN1 Gene

Transcripts for UBXN1 Gene

Unigene Clusters for UBXN1 Gene

UBX domain protein 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 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
genes like me logo Genes that share expression patterns with UBXN1: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.66 (n)
cow
(Bos Taurus)
Mammalia UBXN1 34 35
  • 92.12 (n)
dog
(Canis familiaris)
Mammalia UBXN1 34 35
  • 90.2 (n)
rat
(Rattus norvegicus)
Mammalia Ubxn1 34
  • 89.11 (n)
mouse
(Mus musculus)
Mammalia Ubxn1 34 16 35
  • 88.66 (n)
oppossum
(Monodelphis domestica)
Mammalia UBXN1 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UBXN1 35
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UBXN1 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ubxn1 34
  • 62.54 (n)
Str.4804 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.1496 34
zebrafish
(Danio rerio)
Actinopterygii ubxn1 34 35 35
  • 59.44 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8209 34 35
  • 50.85 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009841 34
  • 49.05 (n)
worm
(Caenorhabditis elegans)
Secernentea ubxn-1 34 35
  • 28 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBX6 37
bread mold
(Neurospora crassa)
Ascomycetes NCU08955 34
  • 43.53 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1443 35
  • 36 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC17C9.11c 34
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
rs1050329 -- 62,677,570(-) CTCTT(C/T)TCCCA reference, missense, utr-variant-3-prime
rs1050383 -- 62,676,920(-) GCTCC(A/C)CCGTG reference, missense
rs111264343 -- 62,678,744(+) TCTCC(C/G)TGGGG splice-acceptor-variant
rs111325595 -- 62,676,912(+) TTCCT(C/G)CCCAC reference, missense
rs111403744 -- 62,678,745(+) CTCCC(A/C/T)GGGGG splice-acceptor-variant

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

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

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. (Mol. Cell. Biol. 2010) 2 3 4 64
  2. UBXD7 binds multiple ubiquitin ligases and implicates p97 in HIF1alpha turnover. (PMID: 18775313) Alexandru G. … Deshaies R.J. (Cell 2008) 3 4 64
  3. A novel protein specifically interacting with Homer2 regulates ubiquitin-proteasome systems. (PMID: 15944415) Ishibashi T. … Sugiyama H. (J. Biochem. 2005) 3 22 64
  4. A novel UBA and UBX domain protein that binds polyubiquitin and VCP and is a substrate for SAPKs. (PMID: 15362974) McNeill H. … Cohen P. (Biochem. J. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for UBXN1 Gene

Sources for UBXN1 Gene

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