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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

  • single fertilization Source: ProtInc
  • ubiquitin-dependent ERAD pathway Source: UniProtKB

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

EuPathDBiHostDB:ENSG00000104691.14.
HGNCiHGNC:30307. UBXN8.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1CytoplasmicSequence analysis1
Transmembranei2 – 22HelicalSequence analysisAdd BLAST21
Topological domaini23 – 33LumenalSequence analysisAdd BLAST11
Transmembranei34 – 54HelicalSequence analysisAdd BLAST21
Topological domaini55 – 270CytoplasmicSequence analysisAdd BLAST216

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000104691.
PharmGKBiPA162408474.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002110331 – 270UBX domain-containing protein 8Add BLAST270

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei167PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO00124.
MaxQBiO00124.
PeptideAtlasiO00124.
PRIDEiO00124.

PTM databases

iPTMnetiO00124.
PhosphoSitePlusiO00124.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000104691.
CleanExiHS_UBXN8.
ExpressionAtlasiO00124. baseline and differential.
GenevisibleiO00124. HS.

Organism-specific databases

HPAiHPA017725.
HPA077538.

Interactioni

Subunit structurei

Interacts with SYVN1 and VCP.1 Publication

Protein-protein interaction databases

BioGridi113702. 26 interactors.
IntActiO00124. 6 interactors.

Structurei

3D structure databases

ProteinModelPortaliO00124.
SMRiO00124.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini187 – 263UBXPROSITE-ProRule annotationAdd BLAST77

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi71 – 74Poly-Glu4

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

GeneTreeiENSGT00390000018326.
HOGENOMiHOG000132969.
HOVERGENiHBG010843.
InParanoidiO00124.
PhylomeDBiO00124.

Family and domain databases

InterProiView protein in InterPro
IPR029071. Ubiquitin-rel_dom.
IPR001012. UBX_dom.
IPR017247. UBXN8.
PfamiView protein in Pfam
PF00789. UBX. 1 hit.
PIRSFiPIRSF037632. UBX_Rep6. 1 hit.
SUPFAMiSSF54236. SSF54236. 1 hit.
PROSITEiView protein in PROSITE
PS50033. UBX. 1 hit.

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_05268718V → M. Corresponds to variant dbSNP:rs3174043Ensembl.1
Natural variantiVAR_05268851I → T. Corresponds to variant dbSNP:rs2911690Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_01553530 – 66Missing in isoform 3. 1 PublicationAdd BLAST37
Alternative sequenceiVSP_00437695 – 135Missing in isoform 2. 1 PublicationAdd BLAST41

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

Similar proteinsi

Entry informationi

Entry nameiUBXN8_HUMAN
AccessioniPrimary (citable) accession number: O00124
Secondary accession number(s): Q7Z6F2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: December 15, 1998
Last modified: September 27, 2017
This is version 133 of the entry and version 2 of the sequence. See 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