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    UBXN8 UBX domain protein 8 [ Homo sapiens (human) ]

    Gene ID: 7993, updated on 26-Nov-2024

    Summary

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    Official Symbol
    UBXN8provided by HGNC
    Official Full Name
    UBX domain protein 8provided by HGNC
    Primary source
    HGNC:HGNC:30307
    See related
    Ensembl:ENSG00000104691 MIM:602155; AllianceGenome:HGNC:30307
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    REP8; UBXD6; D8S2298E
    Summary
    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]
    Expression
    Ubiquitous expression in ovary (RPKM 15.4), testis (RPKM 6.3) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See UBXN8 in Genome Data Viewer
    Location:
    8p12
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (30729135..30767006)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (31008589..31048026)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (30601681..30624522)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene general transcription factor IIE subunit 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:30514282-30514953 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19080 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30515625-30516296 Neighboring gene RNA, U5A small nuclear 3, pseudogene Neighboring gene small integral membrane protein 18 Neighboring gene NANOG hESC enhancer GRCh37_chr8:30560335-30560881 Neighboring gene glutathione-disulfide reductase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19082 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30584261-30584948 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19083 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19084 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:30586711-30587235 Neighboring gene uncharacterized LOC105379356 Neighboring gene uncharacterized LOC105379355 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27214 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30601364-30602332 Neighboring gene HIKESHI pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19085 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19086 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19087 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19088 Neighboring gene protein phosphatase 2 catalytic subunit beta Neighboring gene testis expressed 15, meiosis and synapsis associated Neighboring gene uncharacterized LOC105379357

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Cloning and characterization of Rep-8 (D8S2298E) in the human chromosome 8p11.2-p12. Yamabe Y, et al. Genomics, 1997 Jan 15. PMID 9027507
    2. Epigenetic silencing of UBXN8 contributes to leukemogenesis in t(8;21) acute myeloid leukemia. Yang E, et al. Exp Mol Med, 2021 Dec. PMID 34921223, Free PMC Article
    3. The tissue-specific Rep8/UBXD6 tethers p97 to the endoplasmic reticulum membrane for degradation of misfolded proteins. Madsen L, et al. PLoS One, 2011. PMID 21949850, Free PMC Article
    4. Human ASPL/TUG interacts with p97 and complements the proteasome mislocalization of a yeast ubx4 mutant, but not the ER-associated degradation defect. Madsen L, et al. BMC Cell Biol, 2014 Jul 31. PMID 25078495, Free PMC Article
    5. UBXD7 binds multiple ubiquitin ligases and implicates p97 in HIF1alpha turnover. Alexandru G, et al. Cell, 2008 Sep 5. PMID 18775313, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Epigenetic silencing of UBXN8 contributes to leukemogenesis in t(8;21) acute myeloid leukemia.
      Title: Epigenetic silencing of UBXN8 contributes to leukemogenesis in t(8;21) acute myeloid leukemia.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-macromolecule adaptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables ubiquitin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in ERAD pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in single fertilization TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		  
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    part_of ubiquitin ligase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    UBX domain-containing protein 8
    Names
    Reproduction/chromosome 8
    UBX domain-containing protein 6
    rep-8 protein
    reproduction 8 protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033787.2 RefSeqGene

      Range
      20031..42873
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001282189.2 → NP_001269118.1  UBX domain-containing protein 8 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001269118.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate splice site in the 5' coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1. Isoform 2 is predicted to be a secretory protein.
      Source sequence(s)
      AC009314, KF459648
      Consensus CDS
      CCDS75725.1
      UniProtKB/Swiss-Prot
      O00124
      Related
      ENSP00000481635.1, ENST00000615729.4
      Conserved Domains (1) summary
      pfam00789
      Location:149 → 228
      UBX; UBX domain

    2. NM_001282199.2 → NP_001269128.2  UBX domain-containing protein 8 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the CDS, compared to variant 1. The resulting isoform (3) lacks an internal segment, compared to isoform 1. Isoform 3 is a transmembrane protein.
      Source sequence(s)
      AC009314, KF459648
      Consensus CDS
      CCDS75724.1
      UniProtKB/TrEMBL
      A0A087WUA4
      Related
      ENSP00000478502.1, ENST00000341403.9
      Conserved Domains (1) summary
      cl28922
      Location:149 → 224
      Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold

    3. NM_005671.4 → NP_005662.2  UBX domain-containing protein 8 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1), which is a transmembrane protein.
      Source sequence(s)
      AC009314, KF459648
      Consensus CDS
      CCDS75723.1
      UniProtKB/TrEMBL
      A0A087WV67
      Related
      ENSP00000479216.1, ENST00000265616.10
      Conserved Domains (1) summary
      pfam00789
      Location:186 → 265
      UBX; UBX domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      30729135..30767006
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544655.3 → XP_011542957.1  UBX domain-containing protein 8 isoform X1

      UniProtKB/TrEMBL
      A0A087WT23
      Related
      ENSP00000477532.1, ENST00000620074.5
      Conserved Domains (1) summary
      pfam00789
      Location:243 → 322
      UBX; UBX domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      31008589..31048026
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361280.1 → XP_054217255.1  UBX domain-containing protein 8 isoform X1

    2. XM_054361284.1 → XP_054217259.1  UBX domain-containing protein 8 isoform X5

      UniProtKB/TrEMBL
      B4DKK1

    3. XM_054361281.1 → XP_054217256.1  UBX domain-containing protein 8 isoform X4

      UniProtKB/Swiss-Prot
      O00124, Q7Z6F2

    4. XM_054361282.1 → XP_054217257.1  UBX domain-containing protein 8 isoform X2

    5. XM_054361283.1 → XP_054217258.1  UBX domain-containing protein 8 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O00124.2 GenPept UniProtKB/Swiss-Prot:O00124

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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