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Q04323

- UBXN1_HUMAN

UniProt

Q04323 - UBXN1_HUMAN

Protein

UBX domain-containing protein 1

Gene

UBXN1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 115 (01 Oct 2014)
      Sequence version 2 (16 May 2003)
      Previous versions | rss
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    Functioni

    Ubiquitin-binding protein that interacts with the BRCA1-BARD1 heterodimer, and regulates its activity. Specifically binds 'Lys-6'-linked polyubiquitin chains. Interaction with autoubiquitinated BRCA1, leads to inhibit the E3 ubiquitin-protein ligase activity of the BRCA1-BARD1 heterodimer. Component of a complex required to couple deglycosylation and proteasome-mediated degradation of misfolded proteins in the endoplasmic reticulum that are retrotranslocated in the cytosol.

    GO - Molecular functioni

    1. ATPase binding Source: UniProtKB
    2. K6-linked polyubiquitin binding Source: UniProtKB
    3. polyubiquitin binding Source: UniProtKB
    4. protein binding Source: UniProtKB
    5. ubiquitin binding Source: BHF-UCL
    6. ubiquitin protein ligase binding Source: BHF-UCL

    GO - Biological processi

    1. negative regulation of proteasomal ubiquitin-dependent protein catabolic process Source: UniProtKB
    2. negative regulation of protein ubiquitination Source: UniProtKB
    3. proteasome-mediated ubiquitin-dependent protein catabolic process Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    UBX domain-containing protein 1
    Alternative name(s):
    SAPK substrate protein 1
    UBA/UBX 33.3 kDa protein
    Gene namesi
    Name:UBXN1
    Synonyms:SAKS1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:18402. UBXN1.

    Subcellular locationi

    Cytoplasm By similarity

    GO - Cellular componenti

    1. Cdc48p-Npl4p-Ufd1p AAA ATPase complex Source: BHF-UCL
    2. cytoplasm Source: UniProtKB
    3. dendrite Source: Ensembl
    4. neuronal cell body Source: Ensembl
    5. nucleus Source: Ensembl

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi13 – 131M → T: Abolishes binding to 'Lys-6'-linked polyubiquitin chains and ability to inhibit E3 ubiquitin-protein ligase activity of the BRCA1-BARD1 heterodimer. 1 Publication
    Mutagenesisi219 – 2191R → A: Does not affect binding to 'Lys-6'-linked polyubiquitin chains and ability to inhibit E3 ubiquitin-protein ligase activity of the BRCA1-BARD1 heterodimer. 1 Publication

    Organism-specific databases

    PharmGKBiPA162408336.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 297296UBX domain-containing protein 1PRO_0000211023Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine1 Publication
    Modified residuei199 – 1991Phosphoserine1 Publication
    Modified residuei200 – 2001Phosphoserine; by MAPK121 Publication
    Modified residuei270 – 2701Phosphoserine1 Publication

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiQ04323.
    PaxDbiQ04323.
    PeptideAtlasiQ04323.
    PRIDEiQ04323.

    PTM databases

    PhosphoSiteiQ04323.

    Expressioni

    Gene expression databases

    ArrayExpressiQ04323.
    BgeeiQ04323.
    CleanExiHS_UBXN1.
    GenevestigatoriQ04323.

    Organism-specific databases

    HPAiHPA012669.

    Interactioni

    Subunit structurei

    Component of a complex required to couple retrotranslocation, ubiquitination and deglycosylation composed of NGLY1, SAKS1, AMFR, VCP and RAD23B. Interacts with HOMER2 By similarity. Interacts directly with VCP. Interacts with BRCA1 and BARD1; interaction takes place when BRCA1 is not autoubiquitinated but is strongly enhanced in the presence of autoubiquitinated BRCA1.By similarity3 Publications

    Protein-protein interaction databases

    BioGridi119239. 90 interactions.
    DIPiDIP-29467N.
    IntActiQ04323. 30 interactions.
    STRINGi9606.ENSP00000294119.

    Structurei

    3D structure databases

    ProteinModelPortaliQ04323.
    SMRiQ04323. Positions 2-55.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini2 – 4241UBAPROSITE-ProRule annotationAdd
    BLAST
    Domaini211 – 29383UBXPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni43 – 297255Interaction with BRCA1Add
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili87 – 17286Sequence AnalysisAdd
    BLAST

    Domaini

    The UBA domain specifically recognizes and binds 'Lys-6'-linked polyubiquitin chains.1 Publication

    Sequence similaritiesi

    Contains 1 UBA domain.PROSITE-ProRule annotation
    Contains 1 UBX domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiCOG5207.
    HOGENOMiHOG000188321.
    HOVERGENiHBG082310.
    OMAiQWLEDNQ.
    OrthoDBiEOG7SR4PG.
    PhylomeDBiQ04323.
    TreeFamiTF313944.

    Family and domain databases

    InterProiIPR009060. UBA-like.
    IPR015940. UBA/transl_elong_EF1B_N_euk.
    IPR000449. UBA/Ts_N.
    IPR029071. Ubiquitin-rel_dom.
    IPR001012. UBX_dom.
    [Graphical view]
    PfamiPF00627. UBA. 1 hit.
    PF00789. UBX. 1 hit.
    [Graphical view]
    SMARTiSM00165. UBA. 1 hit.
    SM00166. UBX. 1 hit.
    [Graphical view]
    SUPFAMiSSF46934. SSF46934. 1 hit.
    SSF54236. SSF54236. 1 hit.
    PROSITEiPS50030. UBA. 1 hit.
    PS50033. UBX. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q04323-1) [UniParc]FASTAAdd to Basket

    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

    MAELTALESL IEMGFPRGRA EKALALTGNQ GIEAAMDWLM EHEDDPDVDE    50
    PLETPLGHIL GREPTSSEQG GLEGSGSAAG EGKPALSEEE RQEQTKRMLE 100
    LVAQKQRERE EREEREALER ERQRRRQGQE LSAARQRLQE DEMRRAAEER 150
    RREKAEELAA RQRVREKIER DKAERAKKYG GSVGSQPPPV APEPGPVPSS 200
    PSQEPPTKRE YDQCRIQVRL PDGTSLTQTF RAREQLAAVR LYVELHRGEE 250
    LGGGQDPVQL LSGFPRRAFS EADMERPLQE LGLVPSAVLI VAKKCPS 297
    Length:297
    Mass (Da):33,325
    Last modified:May 16, 2003 - v2
    Checksum:iE4E0C8BBAC93F2BB
    GO
    Isoform 2 (identifier: Q04323-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         283-297: LVPSAVLIVAKKCPS → MAARLETRTRNWGSREACLGKGGMQREGAL

    Note: No experimental confirmation available.

    Show »
    Length:312
    Mass (Da):35,107
    Checksum:i75C94CB67C03EB78
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti76 – 761G → A in AAA36396. 1 PublicationCurated
    Sequence conflicti148 – 1481E → AE in AAA36396. 1 PublicationCurated
    Sequence conflicti154 – 1541K → N in AAA36396. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti56 – 561L → F.
    Corresponds to variant rs11543359 [ dbSNP | Ensembl ].
    VAR_057370

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei283 – 29715LVPSA…KKCPS → MAARLETRTRNWGSREACLG KGGMQREGAL in isoform 2. 1 PublicationVSP_020367Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M68864 mRNA. Translation: AAA36396.1.
    BC000902 mRNA. Translation: AAH00902.1.
    BC001372 mRNA. Translation: AAH01372.1.
    BC040129 mRNA. Translation: AAH40129.1.
    CCDSiCCDS66105.1. [Q04323-1]
    CCDS8029.1. [Q04323-2]
    PIRiS27965.
    RefSeqiNP_001273006.1. NM_001286077.1. [Q04323-1]
    NP_001273007.1. NM_001286078.1.
    NP_056937.2. NM_015853.4. [Q04323-2]
    XP_005274090.1. XM_005274033.2. [Q04323-2]
    UniGeneiHs.351296.
    Hs.731509.

    Genome annotation databases

    EnsembliENST00000294119; ENSP00000294119; ENSG00000162191. [Q04323-2]
    ENST00000301935; ENSP00000303991; ENSG00000162191. [Q04323-1]
    GeneIDi51035.
    KEGGihsa:51035.
    UCSCiuc001nuj.3. human. [Q04323-2]
    uc001nul.2. human. [Q04323-1]

    Polymorphism databases

    DMDMi30923268.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M68864 mRNA. Translation: AAA36396.1 .
    BC000902 mRNA. Translation: AAH00902.1 .
    BC001372 mRNA. Translation: AAH01372.1 .
    BC040129 mRNA. Translation: AAH40129.1 .
    CCDSi CCDS66105.1. [Q04323-1 ]
    CCDS8029.1. [Q04323-2 ]
    PIRi S27965.
    RefSeqi NP_001273006.1. NM_001286077.1. [Q04323-1 ]
    NP_001273007.1. NM_001286078.1.
    NP_056937.2. NM_015853.4. [Q04323-2 ]
    XP_005274090.1. XM_005274033.2. [Q04323-2 ]
    UniGenei Hs.351296.
    Hs.731509.

    3D structure databases

    ProteinModelPortali Q04323.
    SMRi Q04323. Positions 2-55.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119239. 90 interactions.
    DIPi DIP-29467N.
    IntActi Q04323. 30 interactions.
    STRINGi 9606.ENSP00000294119.

    PTM databases

    PhosphoSitei Q04323.

    Polymorphism databases

    DMDMi 30923268.

    Proteomic databases

    MaxQBi Q04323.
    PaxDbi Q04323.
    PeptideAtlasi Q04323.
    PRIDEi Q04323.

    Protocols and materials databases

    DNASUi 51035.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000294119 ; ENSP00000294119 ; ENSG00000162191 . [Q04323-2 ]
    ENST00000301935 ; ENSP00000303991 ; ENSG00000162191 . [Q04323-1 ]
    GeneIDi 51035.
    KEGGi hsa:51035.
    UCSCi uc001nuj.3. human. [Q04323-2 ]
    uc001nul.2. human. [Q04323-1 ]

    Organism-specific databases

    CTDi 51035.
    GeneCardsi GC11M062477.
    H-InvDB HIX0009719.
    HGNCi HGNC:18402. UBXN1.
    HPAi HPA012669.
    neXtProti NX_Q04323.
    PharmGKBi PA162408336.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5207.
    HOGENOMi HOG000188321.
    HOVERGENi HBG082310.
    OMAi QWLEDNQ.
    OrthoDBi EOG7SR4PG.
    PhylomeDBi Q04323.
    TreeFami TF313944.

    Miscellaneous databases

    ChiTaRSi UBXN1. human.
    GenomeRNAii 51035.
    NextBioi 53592.
    PROi Q04323.

    Gene expression databases

    ArrayExpressi Q04323.
    Bgeei Q04323.
    CleanExi HS_UBXN1.
    Genevestigatori Q04323.

    Family and domain databases

    InterProi IPR009060. UBA-like.
    IPR015940. UBA/transl_elong_EF1B_N_euk.
    IPR000449. UBA/Ts_N.
    IPR029071. Ubiquitin-rel_dom.
    IPR001012. UBX_dom.
    [Graphical view ]
    Pfami PF00627. UBA. 1 hit.
    PF00789. UBX. 1 hit.
    [Graphical view ]
    SMARTi SM00165. UBA. 1 hit.
    SM00166. UBX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46934. SSF46934. 1 hit.
    SSF54236. SSF54236. 1 hit.
    PROSITEi PS50030. UBA. 1 hit.
    PS50033. UBX. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Pollard K.M.
      Submitted (JUN-1991) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "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] (ISOFORMS 1 AND 2).
      Tissue: Colon, Placenta and Skin.
    3. "A novel UBA and UBX domain protein that binds polyubiquitin and VCP and is a substrate for SAPKs."
      McNeill H., Knebel A., Arthur J.S., Cuenda A., Cohen P.
      Biochem. J. 384:391-400(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 220-231 AND 276-285, PHOSPHORYLATION AT SER-200, INTERACTION WITH VCP.
    4. Lubec G., Chen W.-Q., Sun Y.
      Submitted (DEC-2008) to UniProtKB
      Cited for: PROTEIN SEQUENCE OF 220-231, IDENTIFICATION BY MASS SPECTROMETRY.
      Tissue: Fetal brain cortex.
    5. "UBXD7 binds multiple ubiquitin ligases and implicates p97 in HIF1alpha turnover."
      Alexandru G., Graumann J., Smith G.T., Kolawa N.J., Fang R., Deshaies R.J.
      Cell 134:804-816(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: UBIQUITIN-BINDING, INTERACTION WITH VCP.
    6. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-199, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    7. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
    8. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-270, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    9. "The UBXN1 protein associates with autoubiquitinated forms of the BRCA1 tumor suppressor and inhibits its enzymatic function."
      Wu-Baer F., Ludwig T., Baer R.
      Mol. Cell. Biol. 30:2787-2798(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: UBIQUITIN-BINDING, DOMAIN UBA, INTERACTION WITH BRCA1 AND BARD1, MUTAGENESIS OF MET-13 AND ARG-219.
    10. "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.
    11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiUBXN1_HUMAN
    AccessioniPrimary (citable) accession number: Q04323
    Secondary accession number(s): Q9BV93, Q9BVV5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: May 16, 2003
    Last modified: October 1, 2014
    This is version 115 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, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3