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Aliases for UBXN8 Gene

Aliases for UBXN8 Gene

  • UBX Domain Protein 8 2 3 5
  • UBX Domain-Containing Protein 6 3 4
  • Reproduction 8 Protein 3 4
  • Rep-8 Protein 3 4
  • D8S2298E 3 4
  • UBXD6 3 4
  • REP8 3 4
  • UBX Domain-Containing Protein 8 3
  • Reproduction/Chromosome 8 3
  • UBX Domain Containing 6 2

External Ids for UBXN8 Gene

Previous HGNC Symbols for UBXN8 Gene

  • UBXD6

Previous GeneCards Identifiers for UBXN8 Gene

  • GC08P030601
  • GC08P029148

Summaries for UBXN8 Gene

Entrez Gene Summary for UBXN8 Gene

  • p97 or VCP (valosin-containing protein) is a versatile ATPase complex, and many cofactors are required for the p97 functional diversity. This gene encodes one of the p97 cofactors. This cofactor is a transmembrane protein and localized in the endoplasmic reticulum (ER) membrane. It tethers p97 to the ER membrane via its UBX domain. The association of this cofactor with p97 facilitates efficient ER-associated degradation of misfolded proteins. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2013]

GeneCards Summary for UBXN8 Gene

UBXN8 (UBX Domain Protein 8) is a Protein Coding gene. GO annotations related to this gene include nucleic acid binding and RNA-DNA hybrid ribonuclease activity.

UniProtKB/Swiss-Prot for UBXN8 Gene

  • Involved in endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal proteins, possibly by tethering VCP to the endoplasmic reticulum membrane. May play a role in reproduction.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UBXN8 Gene

Genomics for UBXN8 Gene

Regulatory Elements for UBXN8 Gene

Enhancers for UBXN8 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
GH08F030721 1.6 FANTOM5 ENCODE 8.9 -2.3 -2265 10.3 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC GTF2E2 WRN GSR UBXN8 ENSG00000272375 RBPMS-AS1
GH08F030390 1.3 Ensembl ENCODE 7.6 -332.8 -332778 12.3 MLX ARID4B SIN3A FEZF1 ETS1 YY1 FOS SP3 SP5 MXD4 RBPMS-AS1 UBXN8 GTF2E2 SARAF PIR31328
GH08F030743 1.1 ENCODE 8.4 +15.0 15035 2.5 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 SP3 MXD4 WRN RBPMS-AS1 GTF2E2 PPP2CB RNU5A-3P GSR UBXN8 GC08M030742 LOC105379355
GH08F030436 1 Ensembl ENCODE 5.8 -289.4 -289364 7.1 BCOR RING1 ZNF146 RNF2 TEAD4 BMI1 ETS1 JUND SMARCA4 POLR2A RBPMS-AS1 RBPMS UBXN8 GTF2E2 ENSG00000254152 PIR31328
GH08F030714 0.6 ENCODE 9.6 -13.8 -13836 0.7 ZNF121 ZFHX2 POLR2A FEZF1 EGR2 UBXN8 GSR GTF2E2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UBXN8 on UCSC Golden Path with GeneCards custom track

Promoters for UBXN8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001440143 -1807 2201 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for UBXN8 Gene

Chromosome:
8
Start:
30,729,107 bp from pter
End:
30,767,006 bp from pter
Size:
37,900 bases
Orientation:
Plus strand

Genomic View for UBXN8 Gene

Genes around UBXN8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBXN8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBXN8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBXN8 Gene

Proteins for UBXN8 Gene

  • Protein details for UBXN8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00124-UBXN8_HUMAN
    Recommended name:
    UBX domain-containing protein 8
    Protein Accession:
    O00124
    Secondary Accessions:
    • Q7Z6F2

    Protein attributes for UBXN8 Gene

    Size:
    270 amino acids
    Molecular mass:
    30541 Da
    Quaternary structure:
    • Interacts with SYVN1 and VCP.

    Alternative splice isoforms for UBXN8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UBXN8 Gene

Post-translational modifications for UBXN8 Gene

  • Ubiquitination at Lys 104
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for UBXN8 Gene

Domains & Families for UBXN8 Gene

Gene Families for UBXN8 Gene

Protein Domains for UBXN8 Gene

Suggested Antigen Peptide Sequences for UBXN8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O00124

UniProtKB/Swiss-Prot:

UBXN8_HUMAN :
  • Contains 1 UBX domain.
Domain:
  • Contains 1 UBX domain.
genes like me logo Genes that share domains with UBXN8: view

Function for UBXN8 Gene

Molecular function for UBXN8 Gene

UniProtKB/Swiss-Prot Function:
Involved in endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal proteins, possibly by tethering VCP to the endoplasmic reticulum membrane. May play a role in reproduction.

Gene Ontology (GO) - Molecular Function for UBXN8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004523 RNA-DNA hybrid ribonuclease activity IEA --
GO:0005515 protein binding IPI 21949850
genes like me logo Genes that share ontologies with UBXN8: view
genes like me logo Genes that share phenotypes with UBXN8: view

Animal Model Products

miRNA for UBXN8 Gene

miRTarBase miRNAs that target UBXN8

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 UBXN8 Gene

Localization for UBXN8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBXN8 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Gene Ontology (GO) - Cellular Components for UBXN8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030176 integral component of endoplasmic reticulum membrane IDA 21949850
genes like me logo Genes that share ontologies with UBXN8: view

No data available for Subcellular locations from COMPARTMENTS for UBXN8 Gene

Pathways & Interactions for UBXN8 Gene

SuperPathways for UBXN8 Gene

No Data Available

Interacting Proteins for UBXN8 Gene

Selected Interacting proteins: O00124-UBXN8_HUMAN for UBXN8 Gene via IID

Gene Ontology (GO) - Biological Process for UBXN8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007338 single fertilization TAS 9027507
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process IEA,IMP 21949850
GO:0090502 RNA phosphodiester bond hydrolysis, endonucleolytic IEA --
genes like me logo Genes that share ontologies with UBXN8: view

No data available for Pathways by source and SIGNOR curated interactions for UBXN8 Gene

Transcripts for UBXN8 Gene

Unigene Clusters for UBXN8 Gene

UBX domain protein 8:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for UBXN8 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b
SP1: - -
SP2: - - -
SP3:
SP4:

Relevant External Links for UBXN8 Gene

GeneLoc Exon Structure for
UBXN8
ECgene alternative splicing isoforms for
UBXN8

Expression for UBXN8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UBXN8 Gene

mRNA differential expression in normal tissues according to GTEx for UBXN8 Gene

This gene is overexpressed in Ovary (x6.4).

Protein differential expression in normal tissues from HIPED for UBXN8 Gene

This gene is overexpressed in Bone (45.7) and Heart (13.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UBXN8 Gene



Protein tissue co-expression partners for UBXN8 Gene

NURSA nuclear receptor signaling pathways regulating expression of UBXN8 Gene:

UBXN8

SOURCE GeneReport for Unigene cluster for UBXN8 Gene:

Hs.153678

mRNA Expression by UniProt/SwissProt for UBXN8 Gene:

O00124-UBXN8_HUMAN
Tissue specificity: Expressed abundantly in ovary and testis, and weakly in all other tissues tested.
genes like me logo Genes that share expression patterns with UBXN8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for UBXN8 Gene

Orthologs for UBXN8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for UBXN8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UBXN8 34
  • 99.38 (n)
dog
(Canis familiaris)
Mammalia UBXN8 34
  • 87.11 (n)
cow
(Bos Taurus)
Mammalia UBXN8 34
  • 86.54 (n)
mouse
(Mus musculus)
Mammalia Ubxn8 34 16
  • 80.79 (n)
rat
(Rattus norvegicus)
Mammalia Ubxn8 34
  • 80.74 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia ubxn8 34
  • 52.93 (n)
zebrafish
(Danio rerio)
Actinopterygii ubxn8 34
  • 52.73 (n)
Species where no ortholog for UBXN8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for UBXN8 Gene

ENSEMBL:
Gene Tree for UBXN8 (if available)
TreeFam:
Gene Tree for UBXN8 (if available)

Paralogs for UBXN8 Gene

Pseudogenes.org Pseudogenes for UBXN8 Gene

genes like me logo Genes that share paralogs with UBXN8: view

No data available for Paralogs for UBXN8 Gene

Variants for UBXN8 Gene

Sequence variations from dbSNP and Humsavar for UBXN8 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1002149 -- 30,728,221(+) TCGAA(G/T)GGTTG upstream-variant-2KB
rs10087681 -- 30,738,892(+) caggg(G/T)ttaca intron-variant
rs10099235 -- 30,739,299(+) cagca(C/T)tttgg intron-variant
rs10105009 -- 30,739,341(+) agatc(A/G)agacc intron-variant
rs10108432 -- 30,739,355(+) ctggc(C/T)aacac intron-variant

Structural Variations from Database of Genomic Variants (DGV) for UBXN8 Gene

Variant ID Type Subtype PubMed ID
nsv824588 CNV loss 20364138
nsv819626 CNV loss 19587683
nsv1144224 CNV deletion 24896259
nsv1115084 CNV deletion 24896259
esv3616794 CNV loss 21293372
esv3543296 CNV deletion 23714750
esv2736833 CNV deletion 23290073
esv2665433 CNV deletion 23128226
esv2554093 CNV deletion 19546169
esv23174 CNV loss 19812545

Relevant External Links for UBXN8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
UBXN8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for UBXN8 Gene

Disorders for UBXN8 Gene

Relevant External Links for UBXN8

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UBXN8

No disorders were found for UBXN8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for UBXN8 Gene

Publications for UBXN8 Gene

  1. Cloning and characterization of Rep-8 (D8S2298E) in the human chromosome 8p11.2-p12. (PMID: 9027507) Yamabe Y. … Furuichi Y. (Genomics 1997) 2 3 4 22 64
  2. The tissue-specific Rep8/UBXD6 tethers p97 to the endoplasmic reticulum membrane for degradation of misfolded proteins. (PMID: 21949850) Madsen L. … Hartmann-Petersen R. (PLoS ONE 2011) 2 3 4 64
  3. 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
  4. Systematic proteomics of the VCP-UBXD adaptor network identifies a role for UBXN10 in regulating ciliogenesis. (PMID: 26389662) Raman M. … Harper J.W. (Nat. Cell Biol. 2015) 3 64
  5. Novel, gel-free proteomics approach identifies RNF5 and JAMP as modulators of GPCR stability. (PMID: 23798571) Roy S.J. … Parent J.L. (Mol. Endocrinol. 2013) 3 64

Products for UBXN8 Gene

Sources for UBXN8 Gene

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