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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

UBXN8 Gene

protein-coding   GIFtS: 45
GCID: GC08P030601

UBX Domain Protein 8

(Previous name: UBX domain containing 6)
(Previous symbol: UBXD6)
  Search for UBXN8
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
UBX Domain Protein 81 2     Reproduction 8 Protein2 3
UBXD61 2 3     UBX Domain-Containing Protein 62 3
D8S2298E2 3 5     UBX Domain Containing 61
REP82 3 5     Reproduction/Chromosome 82
Rep-8 Protein2 3     UBX Domain-Containing Protein 82

External Ids:    HGNC: 303071   Entrez Gene: 79932   Ensembl: ENSG000001046917   OMIM: 6021555   UniProtKB: O001243   

Export aliases for UBXN8 gene to outside databases

Previous GC identifers: GC08P030723 GC08P029148


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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.

UniProtKB/Swiss-Prot: UBXN8_HUMAN, O00124
Function: May play a role in reproduction




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.2  NT_167187.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UBXN8 gene promoter:
         c-Fos   GR   p53   AP-1   ATF-2   GR-alpha   c-Jun   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUBXN8 promoter sequence
   Search SABiosciences Chromatin IP Primers for UBXN8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UBXN8


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p12-p11.2   Ensembl cytogenetic band:  8p12   HGNC cytogenetic band: 8p12-p11.2

UBXN8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UBXN8 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P030601:  view genomic region     (about GC identifiers)

Start:
30,589,764 bp from pter      End:
30,624,522 bp from pter
Size:
34,759 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: UBXN8_HUMAN, O00124 (See protein sequence)
Recommended Name: UBX domain-containing protein 8  
Size: 270 amino acids; 30541 Da
Secondary accessions: Q7Z6F2
Alternative splicing: 3 isoforms:  O00124-1   O00124-2   O00124-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for UBXN8: NX_O00124

Explore proteomics data for UBXN8 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O00124

  • UBXN8 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    UBXN8 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001269118.1  NP_001269128.1  NP_005662.1  

    Human Recombinant Protein Products for UBXN8: 
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    Cloud-Clone Corp. Proteins for UBXN8 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030176integral to endoplasmic reticulum membrane IDA--

    UBXN8 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    UBXN: UBX domain containing

    2 InterPro protein domains:
     IPR001012 UBX
     IPR017247 UBX_Rep6

    Graphical View of Domain Structure for InterPro Entry O00124

    ProtoNet protein and cluster: O00124

    1 Blocks protein domain: IPB001012 UBX domain

    UniProtKB/Swiss-Prot: UBXN8_HUMAN, O00124
    Similarity: Contains 1 UBX domain


    UBXN8 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UBXN8_HUMAN, O00124
    Function: May play a role in reproduction

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    UBXN8 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for UBXN8:
     Decreased POU5F1-GFP protein e 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for UBXN8 
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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for UBXN8

    5 Interacting proteins for UBXN8 (O001243) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NPLOC4Q8TAT63I2D: score=2 
    UFD1LQ928903I2D: score=2 
    VCPP550723I2D: score=2 
    VCPIP1Q96JH73I2D: score=2 
    GTF2F2P139843I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007338single fertilization TAS9027507
    GO:0030433ER-associated protein catabolic process IMP--

    UBXN8 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for UBXN8

    Search CenterWatch for drugs/clinical trials and news about UBXN8

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for UBXN8 gene (3 alternative transcripts): 
    NM_001282189.1  NM_001282199.1  NM_005671.3  

    Unigene Cluster for UBXN8:

    UBX domain protein 8
    Hs.153678  [show with all ESTs]
    Unigene Representative Sequence: D83767
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000522735 ENST00000522968 ENST00000517341(uc003xii.3 uc010lvi.3 uc003xij.3)
    ENST00000519246(uc011lbb.2) ENST00000523607 ENST00000518239 ENST00000518059
    ENST00000521598 ENST00000520436 ENST00000265616 ENST00000380154 ENST00000341403

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate UBXN8:
    hsa-miR-576-5p
    SwitchGear 3'UTR luciferase reporter plasmidUBXN8 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK296600.1 AY302140.1 BC020694.1 D83767.1 D83768.1 

    8 DOTS entries:

    DT.442436  DT.86854311  DT.100774668  DT.97838667  DT.101980189  DT.92422440  DT.100774666  DT.92422438 

    24/92 AceView cDNA sequences (see all 92):

    AI005235 AA826070 AW613009 BF061627 AA889069 AW474066 AA971769 AI382377 
    H65217 AA552711 AI824160 AA465216 AA769389 AI380966 AW204267 BI755534 
    BU618550 AL699805 BI828192 BG613570 AA010572 BC020694 AW194892 BX281253 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for UBXN8    About this scheme

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


    ECgene alternative splicing isoforms for UBXN8

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    UBXN8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTCAAATTC
    UBXN8 Expression
    About this image


    See UBXN8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UBXN8

    SOURCE GeneReport for Unigene cluster: Hs.153678

    UniProtKB/Swiss-Prot: UBXN8_HUMAN, O00124
    Tissue specificity: Expressed abundantly in ovary and testis, and weakly in all other tissues tested

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for UBXN8 gene from 2/6 species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ubxn81 , 5 UBX domain protein 81, 5 80.79(n)1
    75.46(a)1
      8 (20.65 cM)5
    1081591  NM_178648.21  NP_848763.21 
     336195865 
    zebrafish
    (Danio rerio)
    Actinopterygii ubxn81 UBX domain protein 8 50.28(n)
    40.76(a)
      554116  NM_001024412.1  NP_001019583.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/578 SNPs in UBXN8 are shown (see all 578)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0526884
    ----see VAR_0526882 I T mis40--------
    rs753917581,2
    F--30599837(+) GCCCTA/TGCAAC 1 -- us2k11Minor allele frequency- T:0.02NA 120
    rs1810639371,2
    --30599842(+) AGCAAC/TAATCT 1 -- us2k10--------
    rs1855488941,2
    --30599907(+) ATATCA/GCCCAG 1 -- us2k10--------
    rs37579191,2
    C,F,H--30600005(+) TGGGAC/GCACAG 1 -- us2k115Minor allele frequency- G:0.33NS EA NA WA CSA 792
    rs14691751,2
    C,F,O,A,H--30600304(-) TTGCAA/GAAGGC 1 -- us2k127Minor allele frequency- N:0.00NS EA NA WA CSA 2568
    rs14691741,2
    C,F,H--30600366(-) GCAGTG/TCCTGA 1 -- us2k116Minor allele frequency- T:0.00NS EA NA WA CSA 557
    rs14691731,2
    C,F,H--30600375(-) AAACAC/TAATGC 1 -- us2k1 tfbs318Minor allele frequency- T:0.02NS EA NA WA CSA 797
    rs29783061,2
    C,F,O,A,H--30600435(+) AACCAG/CAAAGT 1 -- us2k1 tfbs313Minor allele frequency- C:0.44NA WA EA 692
    rs168773261,2
    C,F,H--30600466(+) AGGACA/CAATTC 1 -- us2k113Minor allele frequency- C:0.06NA NS EA WA 1068

    HapMap Linkage Disequilibrium report for UBXN8 (30589764 - 30624522 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for UBXN8:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2665433CNV Deletion23128226
    esv2736833CNV Deletion23290073
    esv2554093CNV Deletion19546169
    nsv819626CNV Loss19587683
    esv23174CNV Loss19812545
    nsv824588CNV Loss20364138

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    UBXN8 for disorders           About MalaCards
    OMIM gene information: 602155    OMIM disorders: --


    UBXN8 for disorders           About GeneDecksing


    Export disorders for UBXN8 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for UBXN8 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with UBXN8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of Rep-8 (D8S2298E) in the human chromosome 8p11.2-p12. (PubMed id 9027507)1, 2, 3, 9 Yamabe Y.... Furuichi Y. (1997)
    2. The tissue-specific Rep8/UBXD6 tethers p97 to the endo plasmic reticulum membrane for degradation of misfolded proteins. (PubMed id 21949850)1, 3 Madsen L....Hartmann-Petersen R. (2011)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Novel, gel-free proteomics approach identifies RNF5 an d JAMP as modulators of GPCR stability. (PubMed id 23798571)1 Roy S.J....Parent J.L. (2013)
    5. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    6. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    7. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    8. UBXD7 binds multiple ubiquitin ligases and implicates p97 in HIF1alpha turnover. (PubMed id 18775313)1 Alexandru G....Deshaies R.J. (2008)
    9. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    10. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7993 HGNC: 30307 AceView: D8S2298E Ensembl:ENSG00000104691 euGenes: HUgn7993
    ECgene: UBXN8 H-InvDB: UBXN8

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for UBXN8 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for UBXN8 gene:
    Search GeneIP for patents involving UBXN8

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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