Aliases for UBXN1 Gene

Aliases for UBXN1 Gene

  • UBX Domain Protein 1 2 3 5
  • SAPK Substrate Protein 1 2 3 4
  • SAKS1 2 3 4
  • UBX Domain-Containing Protein 1 3 4
  • UBA/UBX 33.3 KDa Protein 3 4
  • UBXD10 2 3
  • 2B28 2 3
  • LOC51035 2
  • UBXN1 5

External Ids for UBXN1 Gene

Previous GeneCards Identifiers for UBXN1 Gene

  • GC11M062201
  • GC11M062444
  • GC11M058772
  • GC11M062447
  • GC11M062462
  • GC11M062471
  • GC11M062477
  • GC11M062489
  • GC11M062681
  • GC11M062706
  • GC11M062951
  • GC11M062981
  • GC11M063014
  • GC11M063078
  • GC11M062725
  • GC11M062737
  • GC11M062750
  • GC11M062769
  • GC11M062785
  • GC11M062803
  • GC11M062822
  • GC11M062840

Summaries for UBXN1 Gene

GeneCards Summary for UBXN1 Gene

UBXN1 (UBX Domain Protein 1) is a Protein Coding gene. Diseases associated with UBXN1 include 3-Methylcrotonyl-Coa Carboxylase Deficiency. Among its related pathways are Calnexin/calreticulin cycle and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include ubiquitin protein ligase binding and ATPase binding. An important paralog of this gene is TNRC6A.

UniProtKB/Swiss-Prot Summary for UBXN1 Gene

  • Ubiquitin-binding protein that plays a role in the modulation of innate immune response. Blocks both the RIG-I-like receptors (RLR) and NF-kappa-B pathways. Following viral infection, UBXN1 is induced and recruited to the RLR component MAVS. In turn, interferes with MAVS oligomerization, and disrupts the MAVS/TRAF3/TRAF6 signalosome. This function probably serves as a brake to prevent excessive RLR signaling (PubMed:23545497). Interferes with the TNFalpha-triggered NF-kappa-B pathway by interacting with cellular inhibitors of apoptosis proteins (cIAPs) and thereby inhibiting their recruitment to TNFR1 (PubMed:25681446). Prevents also the activation of NF-kappa-B by associating with CUL1 and thus inhibiting NF-kappa-B inhibitor alpha/NFKBIA degradation that remains bound to NF-kappa-B (PubMed:28152074). Interacts with the BRCA1-BARD1 heterodimer and regulates its activity. Specifically binds 'Lys-6'-linked polyubiquitin chains. Interaction with autoubiquitinated BRCA1 leads to the inhibition of the E3 ubiquitin-protein ligase activity of the BRCA1-BARD1 heterodimer (PubMed:20351172). 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 , Rfam classification and piRNA Summary for UBXN1 Gene

Genomics for UBXN1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for UBXN1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UBXN1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UBXN1

Top Transcription factor binding sites by QIAGEN in the UBXN1 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • NF-1
  • NF-1/L
  • RORalpha1
  • ZIC2

Genomic Locations for UBXN1 Gene

Genomic Locations for UBXN1 Gene
chr11:62,676,498-62,679,117
(GRCh38/hg38)
Size:
2,620 bases
Orientation:
Minus strand
chr11:62,443,970-62,446,567
(GRCh37/hg19)
Size:
2,598 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:
    • Interacts with MAVS; this interaction prevents MAVS oligomerization and thus disrupts the RLR signaling pathway (PubMed:23545497). Interacts with CUL1; this interaction inhibits CUL1-mediated degradation of NF-kappa-B inhibitors (PubMed:28152074). Interacts with BIRC2/c-IAP1; this interaction prevents TNFalpha-stimulated RIP1 ubiquitination and subsequent NF-kappa-B activation (PubMed:25681446). 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.
    • (Microbial infection) Interacts (via C-terminal UBX domain) with nipah virus protein V.

    Alternative splice isoforms for UBXN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UBXN1 Gene

Post-translational modifications for UBXN1 Gene

  • Ubiquitination at Lys83, Lys105, Lys154, Lys178, and Lys208
  • 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

InterPro:
Blocks:
  • UBX domain
ProtoNet:

Suggested Antigen Peptide Sequences for UBXN1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53007, highly similar to UBA/UBX 33.3 kDa protein (B4E0P8_HUMAN)
  • cDNA FLJ30270 fis, clone BRACE2002661, highly similar to UBA/UBX 33.3 kDa protein (Q05BV2_HUMAN)
  • UBA/UBX 33.3 kDa protein (UBXN1_HUMAN)

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 plays a role in the modulation of innate immune response. Blocks both the RIG-I-like receptors (RLR) and NF-kappa-B pathways. Following viral infection, UBXN1 is induced and recruited to the RLR component MAVS. In turn, interferes with MAVS oligomerization, and disrupts the MAVS/TRAF3/TRAF6 signalosome. This function probably serves as a brake to prevent excessive RLR signaling (PubMed:23545497). Interferes with the TNFalpha-triggered NF-kappa-B pathway by interacting with cellular inhibitors of apoptosis proteins (cIAPs) and thereby inhibiting their recruitment to TNFR1 (PubMed:25681446). Prevents also the activation of NF-kappa-B by associating with CUL1 and thus inhibiting NF-kappa-B inhibitor alpha/NFKBIA degradation that remains bound to NF-kappa-B (PubMed:28152074). Interacts with the BRCA1-BARD1 heterodimer and regulates its activity. Specifically binds 'Lys-6'-linked polyubiquitin chains. Interaction with autoubiquitinated BRCA1 leads to the inhibition of the E3 ubiquitin-protein ligase activity of the BRCA1-BARD1 heterodimer (PubMed:20351172). 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 IEA,IPI 18775313
GO:0031593 polyubiquitin modification-dependent protein binding IDA 15362974
GO:0031625 ubiquitin protein ligase binding IDA 18775313
GO:0036435 K48-linked polyubiquitin modification-dependent protein 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBXN1

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
nucleus 4
endoplasmic reticulum 4
cytosol 4
cytoskeleton 1
mitochondrion 1
peroxisome 1
endosome 1
lysosome 1

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:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA,IDA 10942595
GO:0005783 endoplasmic reticulum IDA 21135095
GO:0005829 cytosol IDA,TAS --
GO:0030425 dendrite IEA --
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

SIGNOR curated interactions for UBXN1 Gene

Activates:

Gene Ontology (GO) - Biological Process for UBXN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding TAS --
GO:0016032 viral process IEA --
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
genes like me logo Genes that share ontologies with UBXN1: view

Drugs & Compounds for UBXN1 Gene

No Compound Related Data Available

Transcripts for UBXN1 Gene

mRNA/cDNA for UBXN1 Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBXN1

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

No ASD Table

Relevant External Links for UBXN1 Gene

GeneLoc Exon Structure 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, MaxQB, and MOPED for UBXN1 Gene



Protein tissue co-expression partners for UBXN1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UBXN1

SOURCE GeneReport for Unigene cluster for UBXN1 Gene:

Hs.351296

Evidence on tissue expression from TISSUES for UBXN1 Gene

  • Skin(4.6)
  • Liver(4.5)
  • Intestine(4.5)
  • Nervous system(3.7)
  • Lung(3.4)
  • Kidney(2.5)
  • Eye(2.4)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with UBXN1: view

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 30 31
  • 99.66 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia UBXN1 30 31
  • 92.12 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia UBXN1 30 31
  • 90.2 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ubxn1 30
  • 89.11 (n)
Mouse
(Mus musculus)
Mammalia Ubxn1 30 17 31
  • 88.66 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia UBXN1 31
  • 78 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia UBXN1 31
  • 63 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia UBXN1 31
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ubxn1 30
  • 62.54 (n)
Str.4804 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.1496 30
Zebrafish
(Danio rerio)
Actinopterygii ubxn1 30 31 31
  • 59.44 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG8209 30 31
  • 50.85 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009841 30
  • 49.05 (n)
Worm
(Caenorhabditis elegans)
Secernentea ubxn-1 30 31
  • 28 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBX6 33
Bread mold
(Neurospora crassa)
Ascomycetes NCU08955 30
  • 43.53 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1443 31
  • 36 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC17C9.11c 30
Species where no ortholog for UBXN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for UBXN1: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UBXN1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs11543359 - p.Leu56Phe

Additional dbSNP identifiers (rs#s) for UBXN1 Gene

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)

Additional Variant Information for UBXN1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for UBXN1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for UBXN1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
3-methylcrotonyl-coa carboxylase deficiency
  • 3-methylcrotonylglycinuria
- elite association - COSMIC cancer census association via MalaCards
Search UBXN1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with UBXN1: view

No data available for 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
  2. Multiple UBXN family members inhibit retrovirus and lentivirus production and canonical NFκΒ signaling by stabilizing IκBα. (PMID: 28152074) Hu Y … Sutton RE (PLoS pathogens 2017) 3 4
  3. Ubiquitin-associated domain-containing ubiquitin regulatory X (UBX) protein UBXN1 is a negative regulator of nuclear factor κB (NF-κB) signaling. (PMID: 25681446) Wang YB … Li HY (The Journal of biological chemistry 2015) 3 4
  4. UBXN1 interferes with Rig-I-like receptor-mediated antiviral immune response by targeting MAVS. (PMID: 23545497) Wang P … Sutton RE (Cell reports 2013) 3 4
  5. UBXD7 binds multiple ubiquitin ligases and implicates p97 in HIF1alpha turnover. (PMID: 18775313) Alexandru G … Deshaies RJ (Cell 2008) 3 4

Products for UBXN1 Gene

  • Signalway Proteins for UBXN1

Sources for UBXN1 Gene