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

Gene ID: 7993, updated on 1-Jun-2020

Summary

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
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

Genomic context

See UBXN8 in Genome Data Viewer
Location:
8p12
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (30729131..30767006)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (30601690..30624522)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene general transcription factor IIE subunit 2 Neighboring gene RNA, U5A small nuclear 3, pseudogene Neighboring gene small integral membrane protein 18 Neighboring gene glutathione-disulfide reductase Neighboring gene uncharacterized LOC105379356 Neighboring gene uncharacterized LOC105379355 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

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
single fertilization TAS
Traceable Author Statement
more info
PubMed 
ubiquitin-dependent ERAD pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
integral component of endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

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)

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_033787.1 RefSeqGene

    Range
    5001..27842
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001282189.1NP_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)
    AY302140, BI462115, BQ019612
    Consensus CDS
    CCDS75725.1
    UniProtKB/Swiss-Prot
    O00124
    Related
    ENSP00000481635.1, ENST00000615729.4
    Conserved Domains (1) summary
    pfam00789
    Location:149228
    UBX; UBX domain
  2. NM_001282199.1NP_001269128.1  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)
    BI462115, BI755534, BQ019612
    Consensus CDS
    CCDS75724.1
    UniProtKB/Swiss-Prot
    O00124
    Related
    ENSP00000478502.1, ENST00000341403.9
    Conserved Domains (1) summary
    pfam00789
    Location:145224
    UBX; UBX domain
  3. NM_005671.4NP_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
    Related
    ENSP00000479216.1, ENST00000265616.10
    Conserved Domains (1) summary
    pfam00789
    Location:186265
    UBX; UBX domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    30729131..30767006
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544655.2XP_011542957.1  UBX domain-containing protein 8 isoform X1

    Related
    ENSP00000477532.1, ENST00000620074.4
    Conserved Domains (1) summary
    pfam00789
    Location:243322
    UBX; UBX domain
  2. XM_017013862.1XP_016869351.1  UBX domain-containing protein 8 isoform X2

    UniProtKB/TrEMBL
    B4DKK1
    Conserved Domains (1) summary
    pfam00789
    Location:78157
    UBX; UBX domain
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