UBXN8_HUMAN
ID UBXN8_HUMAN Reviewed; 270 AA.
AC O00124; Q7Z6F2;
DT 15-JUL-1998, integrated into UniProtKB/Swiss-Prot.
DT 15-DEC-1998, sequence version 2.
DT 03-AUG-2022, entry version 159.
DE RecName: Full=UBX domain-containing protein 8;
DE AltName: Full=Reproduction 8 protein;
DE Short=Rep-8 protein;
DE AltName: Full=UBX domain-containing protein 6;
GN Name=UBXN8; Synonyms=D8S2298E, REP8, UBXD6;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Embryonic carcinoma;
RX PubMed=9027507; DOI=10.1006/geno.1996.4480;
RA Yamabe Y., Ichikawa K., Sugawara K., Imamura O., Shimamoto A., Suzuki N.,
RA Tokutake Y., Goto M., Sugawara M., Furuichi Y.;
RT "Cloning and characterization of Rep-8 (D8S2298E) in the human chromosome
RT 8p11.2-p12.";
RL Genomics 39:198-204(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RA Lin L., Zheng G., Li H., Zhou G., Ke R., Shen C., Li M., Xiao W., Zhong G.,
RA Yu R., Yang S.;
RL Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-167, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full phosphorylation
RT site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [6]
RP FUNCTION, SUBCELLULAR LOCATION, AND INTERACTION WITH SYVN1 AND VCP.
RX PubMed=21949850; DOI=10.1371/journal.pone.0025061;
RA Madsen L., Kriegenburg F., Vala A., Best D., Prag S., Hofmann K.,
RA Seeger M., Adams I.R., Hartmann-Petersen R.;
RT "The tissue-specific Rep8/UBXD6 tethers p97 to the endoplasmic reticulum
RT membrane for degradation of misfolded proteins.";
RL PLoS ONE 6:E25061-E25061(2011).
CC -!- FUNCTION: Involved in endoplasmic reticulum-associated degradation
CC (ERAD) for misfolded lumenal proteins, possibly by tethering VCP to the
CC endoplasmic reticulum membrane. May play a role in reproduction.
CC {ECO:0000269|PubMed:21949850}.
CC -!- SUBUNIT: Interacts with SYVN1 and VCP. {ECO:0000269|PubMed:21949850}.
CC -!- INTERACTION:
CC O00124; Q13520: AQP6; NbExp=3; IntAct=EBI-1993850, EBI-13059134;
CC O00124; P14136: GFAP; NbExp=3; IntAct=EBI-1993850, EBI-744302;
CC O00124; P48165: GJA8; NbExp=3; IntAct=EBI-1993850, EBI-17458373;
CC O00124; Q7Z5P4: HSD17B13; NbExp=3; IntAct=EBI-1993850, EBI-18053395;
CC O00124; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-1993850, EBI-16439278;
CC O00124; O15173: PGRMC2; NbExp=3; IntAct=EBI-1993850, EBI-1050125;
CC O00124; Q9NUH8: TMEM14B; NbExp=3; IntAct=EBI-1993850, EBI-8638294;
CC O00124; P55072: VCP; NbExp=8; IntAct=EBI-1993850, EBI-355164;
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane
CC {ECO:0000269|PubMed:21949850}; Multi-pass membrane protein
CC {ECO:0000269|PubMed:21949850}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1; Synonyms=Long;
CC IsoId=O00124-1; Sequence=Displayed;
CC Name=2; Synonyms=Short;
CC IsoId=O00124-2; Sequence=VSP_004376;
CC Name=3;
CC IsoId=O00124-3; Sequence=VSP_015535;
CC -!- TISSUE SPECIFICITY: Expressed abundantly in ovary and testis, and
CC weakly in all other tissues tested.
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DR EMBL; D83767; BAA18958.1; -; mRNA.
DR EMBL; D83768; BAA18959.1; -; mRNA.
DR EMBL; AY302140; AAP57632.1; -; mRNA.
DR EMBL; BC020694; AAH20694.1; -; mRNA.
DR CCDS; CCDS75723.1; -. [O00124-1]
DR CCDS; CCDS75724.1; -. [O00124-2]
DR CCDS; CCDS75725.1; -. [O00124-3]
DR RefSeq; NP_001269118.1; NM_001282189.1. [O00124-3]
DR RefSeq; NP_001269128.1; NM_001282199.1. [O00124-2]
DR RefSeq; NP_005662.1; NM_005671.3.
DR AlphaFoldDB; O00124; -.
DR SMR; O00124; -.
DR BioGRID; 113702; 94.
DR IntAct; O00124; 20.
DR MINT; O00124; -.
DR STRING; 9606.ENSP00000479216; -.
DR iPTMnet; O00124; -.
DR PhosphoSitePlus; O00124; -.
DR BioMuta; UBXN8; -.
DR EPD; O00124; -.
DR jPOST; O00124; -.
DR MassIVE; O00124; -.
DR MaxQB; O00124; -.
DR PeptideAtlas; O00124; -.
DR PRIDE; O00124; -.
DR ProteomicsDB; 47719; -. [O00124-1]
DR ProteomicsDB; 47720; -. [O00124-2]
DR ProteomicsDB; 47721; -. [O00124-3]
DR Antibodypedia; 2989; 102 antibodies from 16 providers.
DR DNASU; 7993; -.
DR Ensembl; ENST00000615729.4; ENSP00000481635.1; ENSG00000104691.16. [O00124-3]
DR GeneID; 7993; -.
DR KEGG; hsa:7993; -.
DR UCSC; uc033bgi.2; human. [O00124-1]
DR CTD; 7993; -.
DR DisGeNET; 7993; -.
DR GeneCards; UBXN8; -.
DR HGNC; HGNC:30307; UBXN8.
DR HPA; ENSG00000104691; Tissue enhanced (ovary).
DR MIM; 602155; gene.
DR neXtProt; NX_O00124; -.
DR OpenTargets; ENSG00000104691; -.
DR PharmGKB; PA162408474; -.
DR VEuPathDB; HostDB:ENSG00000104691; -.
DR eggNOG; KOG1363; Eukaryota.
DR GeneTree; ENSGT00390000018326; -.
DR HOGENOM; CLU_077976_0_0_1; -.
DR InParanoid; O00124; -.
DR OrthoDB; 1194290at2759; -.
DR PhylomeDB; O00124; -.
DR PathwayCommons; O00124; -.
DR SignaLink; O00124; -.
DR SIGNOR; O00124; -.
DR BioGRID-ORCS; 7993; 10 hits in 211 CRISPR screens.
DR ChiTaRS; UBXN8; human.
DR GenomeRNAi; 7993; -.
DR Pharos; O00124; Tbio.
DR PRO; PR:O00124; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; O00124; protein.
DR Bgee; ENSG00000104691; Expressed in left ovary and 150 other tissues.
DR ExpressionAtlas; O00124; baseline and differential.
DR Genevisible; O00124; HS.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:HPA.
DR GO; GO:0030176; C:integral component of endoplasmic reticulum membrane; IDA:UniProtKB.
DR GO; GO:0005730; C:nucleolus; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0000151; C:ubiquitin ligase complex; ISS:FlyBase.
DR GO; GO:0030674; F:protein-macromolecule adaptor activity; ISS:FlyBase.
DR GO; GO:0043130; F:ubiquitin binding; IBA:GO_Central.
DR GO; GO:0007338; P:single fertilization; TAS:ProtInc.
DR GO; GO:0030433; P:ubiquitin-dependent ERAD pathway; IMP:UniProtKB.
DR InterPro; IPR029071; Ubiquitin-like_domsf.
DR InterPro; IPR001012; UBX_dom.
DR InterPro; IPR017247; UBXN8.
DR Pfam; PF00789; UBX; 1.
DR PIRSF; PIRSF037632; UBX_Rep6; 1.
DR SUPFAM; SSF54236; SSF54236; 1.
DR PROSITE; PS50033; UBX; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Endoplasmic reticulum; Membrane; Phosphoprotein;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..270
FT /note="UBX domain-containing protein 8"
FT /id="PRO_0000211033"
FT TOPO_DOM 1
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 2..22
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 23..33
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT TRANSMEM 34..54
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 55..270
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 187..263
FT /note="UBX"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00215"
FT REGION 130..171
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 135..162
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 167
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648"
FT VAR_SEQ 30..66
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|Ref.2"
FT /id="VSP_015535"
FT VAR_SEQ 95..135
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:9027507"
FT /id="VSP_004376"
FT VARIANT 18
FT /note="V -> M (in dbSNP:rs3174043)"
FT /id="VAR_052687"
FT VARIANT 51
FT /note="I -> T (in dbSNP:rs2911690)"
FT /id="VAR_052688"
SQ SEQUENCE 270 AA; 30541 MW; 13398A33D0CAC076 CRC64;
MASRGVVGIF FLSAVPLVCL ELRRGIPDIG IKDFLLLCGR ILLLLALLTL IISVTTSWLN
SFKSPQVYLK EEEEKNEKRQ KLVRKKQQEA QGEKASRYIE NVLKPHQEMK LRKLEERFYQ
MTGEAWKLSS GHKLGGDEGT SQTSFETSNR EAAKSQNLPK PLTEFPSPAE QPTCKEIPDL
PEEPSQTAEE VVTVALRCPS GNVLRRRFLK SYSSQVLFDW MTRIGYHISL YSLSTSFPRR
PLAVEGGQSL EDIGITVDTV LILEEKEQTN
