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

Gene ID: 7993, updated on 3-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (30729135..30767006)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (31008589..31048026)
105.20220307 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. 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
  2. Cloning and characterization of Rep-8 (D8S2298E) in the human chromosome 8p11.2-p12. Yamabe Y, et al. Genomics, 1997 Jan 15. PMID 9027507
  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 (31) 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)

Genotypes

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 IBA
Inferred from Biological aspect of Ancestor
more info
  
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
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
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_2023_10

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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