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Protein

UBX domain-containing protein 8

Gene

UBXN8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.1 Publication

GO - Biological processi

  • ER-associated ubiquitin-dependent protein catabolic process Source: UniProtKB
  • single fertilization Source: ProtInc
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
UBX domain-containing protein 8
Alternative name(s):
Reproduction 8 protein
Short name:
Rep-8 protein
UBX domain-containing protein 6
Gene namesi
Name:UBXN8
Synonyms:D8S2298E, REP8, UBXD6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:30307. UBXN8.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 11CytoplasmicSequence analysis
Transmembranei2 – 2221HelicalSequence analysisAdd
BLAST
Topological domaini23 – 3311LumenalSequence analysisAdd
BLAST
Transmembranei34 – 5421HelicalSequence analysisAdd
BLAST
Topological domaini55 – 270216CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

  • integral component of endoplasmic reticulum membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162408474.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 270270UBX domain-containing protein 8PRO_0000211033Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei167 – 1671PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO00124.
MaxQBiO00124.
PRIDEiO00124.

PTM databases

iPTMnetiO00124.
PhosphoSiteiO00124.

Expressioni

Tissue specificityi

Expressed abundantly in ovary and testis, and weakly in all other tissues tested.

Gene expression databases

CleanExiHS_UBXN8.
ExpressionAtlasiO00124. baseline and differential.
GenevisibleiO00124. HS.

Interactioni

Subunit structurei

Interacts with SYVN1 and VCP.1 Publication

Protein-protein interaction databases

BioGridi113702. 12 interactions.
IntActiO00124. 5 interactions.

Structurei

3D structure databases

ProteinModelPortaliO00124.
SMRiO00124. Positions 176-267.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini187 – 26377UBXPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi71 – 744Poly-Glu

Sequence similaritiesi

Contains 1 UBX domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

GeneTreeiENSGT00390000018326.
HOGENOMiHOG000132969.
HOVERGENiHBG010843.
InParanoidiO00124.
PhylomeDBiO00124.

Family and domain databases

InterProiIPR029071. Ubiquitin-rel_dom.
IPR001012. UBX_dom.
IPR017247. UBXN8.
[Graphical view]
PfamiPF00789. UBX. 1 hit.
[Graphical view]
PIRSFiPIRSF037632. UBX_Rep6. 1 hit.
SUPFAMiSSF54236. SSF54236. 1 hit.
PROSITEiPS50033. UBX. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O00124-1) [UniParc]FASTAAdd to basket

Also known as: Long

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MASRGVVGIF FLSAVPLVCL ELRRGIPDIG IKDFLLLCGR ILLLLALLTL
60 70 80 90 100
IISVTTSWLN SFKSPQVYLK EEEEKNEKRQ KLVRKKQQEA QGEKASRYIE
110 120 130 140 150
NVLKPHQEMK LRKLEERFYQ MTGEAWKLSS GHKLGGDEGT SQTSFETSNR
160 170 180 190 200
EAAKSQNLPK PLTEFPSPAE QPTCKEIPDL PEEPSQTAEE VVTVALRCPS
210 220 230 240 250
GNVLRRRFLK SYSSQVLFDW MTRIGYHISL YSLSTSFPRR PLAVEGGQSL
260 270
EDIGITVDTV LILEEKEQTN
Length:270
Mass (Da):30,541
Last modified:December 15, 1998 - v2
Checksum:i13398A33D0CAC076
GO
Isoform 2 (identifier: O00124-2) [UniParc]FASTAAdd to basket

Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     95-135: Missing.

Show »
Length:229
Mass (Da):25,669
Checksum:iA13F92D08FBF77DE
GO
Isoform 3 (identifier: O00124-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     30-66: Missing.

Note: No experimental confirmation available.
Show »
Length:233
Mass (Da):26,457
Checksum:i049766C81CFAE1C7
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti18 – 181V → M.
Corresponds to variant rs3174043 [ dbSNP | Ensembl ].
VAR_052687
Natural varianti51 – 511I → T.
Corresponds to variant rs2911690 [ dbSNP | Ensembl ].
VAR_052688

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei30 – 6637Missing in isoform 3. 1 PublicationVSP_015535Add
BLAST
Alternative sequencei95 – 13541Missing in isoform 2. 1 PublicationVSP_004376Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D83767 mRNA. Translation: BAA18958.1.
D83768 mRNA. Translation: BAA18959.1.
AY302140 mRNA. Translation: AAP57632.1.
BC020694 mRNA. Translation: AAH20694.1.
CCDSiCCDS75723.1. [O00124-1]
CCDS75724.1. [O00124-2]
CCDS75725.1. [O00124-3]
RefSeqiNP_001269118.1. NM_001282189.1. [O00124-3]
NP_001269128.1. NM_001282199.1. [O00124-2]
NP_005662.1. NM_005671.3. [O00124-1]
UniGeneiHs.153678.

Genome annotation databases

EnsembliENST00000615729; ENSP00000481635; ENSG00000104691. [O00124-3]
GeneIDi7993.
KEGGihsa:7993.
UCSCiuc033bgi.2. human. [O00124-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D83767 mRNA. Translation: BAA18958.1.
D83768 mRNA. Translation: BAA18959.1.
AY302140 mRNA. Translation: AAP57632.1.
BC020694 mRNA. Translation: AAH20694.1.
CCDSiCCDS75723.1. [O00124-1]
CCDS75724.1. [O00124-2]
CCDS75725.1. [O00124-3]
RefSeqiNP_001269118.1. NM_001282189.1. [O00124-3]
NP_001269128.1. NM_001282199.1. [O00124-2]
NP_005662.1. NM_005671.3. [O00124-1]
UniGeneiHs.153678.

3D structure databases

ProteinModelPortaliO00124.
SMRiO00124. Positions 176-267.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113702. 12 interactions.
IntActiO00124. 5 interactions.

PTM databases

iPTMnetiO00124.
PhosphoSiteiO00124.

Proteomic databases

EPDiO00124.
MaxQBiO00124.
PRIDEiO00124.

Protocols and materials databases

DNASUi7993.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000615729; ENSP00000481635; ENSG00000104691. [O00124-3]
GeneIDi7993.
KEGGihsa:7993.
UCSCiuc033bgi.2. human. [O00124-1]

Organism-specific databases

CTDi7993.
GeneCardsiUBXN8.
HGNCiHGNC:30307. UBXN8.
MIMi602155. gene.
neXtProtiNX_O00124.
PharmGKBiPA162408474.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00390000018326.
HOGENOMiHOG000132969.
HOVERGENiHBG010843.
InParanoidiO00124.
PhylomeDBiO00124.

Miscellaneous databases

GenomeRNAii7993.
PROiO00124.
SOURCEiSearch...

Gene expression databases

CleanExiHS_UBXN8.
ExpressionAtlasiO00124. baseline and differential.
GenevisibleiO00124. HS.

Family and domain databases

InterProiIPR029071. Ubiquitin-rel_dom.
IPR001012. UBX_dom.
IPR017247. UBXN8.
[Graphical view]
PfamiPF00789. UBX. 1 hit.
[Graphical view]
PIRSFiPIRSF037632. UBX_Rep6. 1 hit.
SUPFAMiSSF54236. SSF54236. 1 hit.
PROSITEiPS50033. UBX. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and characterization of Rep-8 (D8S2298E) in the human chromosome 8p11.2-p12."
    Yamabe Y., Ichikawa K., Sugawara K., Imamura O., Shimamoto A., Suzuki N., Tokutake Y., Goto M., Sugawara M., Furuichi Y.
    Genomics 39:198-204(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
    Tissue: Embryonic carcinoma.
  2. Lin L., Zheng G., Li H., Zhou G., Ke R., Shen C., Li M., Xiao W., Zhong G., Yu R., Yang S.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Testis.
  4. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-167, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  5. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  6. "The tissue-specific Rep8/UBXD6 tethers p97 to the endoplasmic reticulum membrane for degradation of misfolded proteins."
    Madsen L., Kriegenburg F., Vala A., Best D., Prag S., Hofmann K., Seeger M., Adams I.R., Hartmann-Petersen R.
    PLoS ONE 6:E25061-E25061(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH SYVN1 AND VCP.

Entry informationi

Entry nameiUBXN8_HUMAN
AccessioniPrimary (citable) accession number: O00124
Secondary accession number(s): Q7Z6F2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: December 15, 1998
Last modified: June 8, 2016
This is version 124 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.