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Q9UGP8

- SEC63_HUMAN

UniProt

Q9UGP8 - SEC63_HUMAN

Protein

Translocation protein SEC63 homolog

Gene

SEC63

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 131 (01 Oct 2014)
      Sequence version 2 (23 Jan 2007)
      Previous versions | rss
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    Functioni

    Required for integral membrane and secreted preprotein translocation across the endoplasmic reticulum membrane.

    GO - Molecular functioni

    1. poly(A) RNA binding Source: UniProtKB
    2. protein binding Source: IntAct
    3. protein transporter activity Source: InterPro
    4. receptor activity Source: ProtInc

    GO - Biological processi

    1. liver development Source: Ensembl
    2. multicellular organismal aging Source: Ensembl
    3. nitrogen compound metabolic process Source: Ensembl
    4. posttranslational protein targeting to membrane Source: MGI
    5. posttranslational protein targeting to membrane, translocation Source: InterPro
    6. protein targeting to membrane Source: ProtInc
    7. renal system development Source: Ensembl
    8. SRP-dependent cotranslational protein targeting to membrane Source: MGI

    Keywords - Molecular functioni

    Chaperone

    Keywords - Biological processi

    Protein transport, Transport

    Protein family/group databases

    TCDBi3.A.5.9.1. the general secretory pathway (sec) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Translocation protein SEC63 homolog
    Gene namesi
    Name:SEC63
    Synonyms:SEC63L
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:21082. SEC63.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum Source: ProtInc
    2. endoplasmic reticulum membrane Source: UniProtKB-SubCell
    3. integral component of membrane Source: UniProtKB-KW
    4. membrane Source: MGI

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Polycystic liver disease (PCLD) [MIM:174050]: A hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti568 – 5681Missing in PCLD. 1 Publication
    VAR_019645

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi174050. phenotype.
    Orphaneti2924. Isolated polycystic liver disease.
    PharmGKBiPA134936990.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 760760Translocation protein SEC63 homologPRO_0000071097Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei742 – 7421Phosphoserine1 Publication
    Modified residuei748 – 7481Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ9UGP8.
    PaxDbiQ9UGP8.
    PeptideAtlasiQ9UGP8.
    PRIDEiQ9UGP8.

    PTM databases

    PhosphoSiteiQ9UGP8.

    Expressioni

    Tissue specificityi

    Widely expressed, with high levels in the liver.1 Publication

    Gene expression databases

    ArrayExpressiQ9UGP8.
    BgeeiQ9UGP8.
    CleanExiHS_SEC63.
    GenevestigatoriQ9UGP8.

    Organism-specific databases

    HPAiHPA053295.

    Interactioni

    Subunit structurei

    Part of the multicomponent translocon that contains the trimeric SEC61 complex, SEC62 and SEC63.

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    NxnP973466EBI-1045560,EBI-309684From a different organism.

    Protein-protein interaction databases

    BioGridi116397. 3 interactions.
    IntActiQ9UGP8. 5 interactions.
    MINTiMINT-3079991.
    STRINGi9606.ENSP00000357998.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UGP8.
    SMRiQ9UGP8. Positions 106-176, 243-477, 628-708.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 1414LumenalSequence AnalysisAdd
    BLAST
    Topological domaini36 – 6934CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini91 – 18898LumenalSequence AnalysisAdd
    BLAST
    Topological domaini210 – 760551CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei15 – 3521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei70 – 9021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei189 – 20921HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini104 – 16562JPROSITE-ProRule annotationAdd
    BLAST
    Domaini197 – 541345SEC63 1Add
    BLAST
    Domaini637 – 71478SEC63 2Add
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili597 – 63539Sequence AnalysisAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi734 – 76027Asp/Glu-rich (highly acidic)Add
    BLAST

    Sequence similaritiesi

    Contains 1 J domain.PROSITE-ProRule annotation
    Contains 2 SEC63 domains.Curated

    Keywords - Domaini

    Coiled coil, Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG5407.
    HOGENOMiHOG000037933.
    HOVERGENiHBG057075.
    InParanoidiQ9UGP8.
    KOiK09540.
    OMAiTIENCMK.
    OrthoDBiEOG7HMS0K.
    PhylomeDBiQ9UGP8.
    TreeFamiTF105904.

    Family and domain databases

    Gene3Di1.10.287.110. 1 hit.
    2.60.40.150. 2 hits.
    InterProiIPR000008. C2_dom.
    IPR001623. DnaJ_domain.
    IPR014756. Ig_E-set.
    IPR027137. Sec63.
    IPR004179. Sec63-dom.
    [Graphical view]
    PANTHERiPTHR24075. PTHR24075. 1 hit.
    PfamiPF00226. DnaJ. 1 hit.
    PF02889. Sec63. 1 hit.
    [Graphical view]
    PRINTSiPR00625. JDOMAIN.
    SMARTiSM00271. DnaJ. 1 hit.
    SM00611. SEC63. 1 hit.
    SM00973. Sec63. 1 hit.
    [Graphical view]
    SUPFAMiSSF46565. SSF46565. 1 hit.
    SSF81296. SSF81296. 2 hits.
    PROSITEiPS50076. DNAJ_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9UGP8-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAGQQFQYDD SGNTFFYFLT SFVGLIVIPA TYYLWPRDQN AEQIRLKNIR    50
    KVYGRCMWYR LRLLKPQPNI IPTVKKIVLL AGWALFLFLA YKVSKTDREY 100
    QEYNPYEVLN LDPGATVAEI KKQYRLLSLK YHPDKGGDEV MFMRIAKAYA 150
    ALTDEESRKN WEEFGNPDGP QATSFGIALP AWIVDQKNSI LVLLVYGLAF 200
    MVILPVVVGS WWYRSIRYSG DQILIRTTQI YTYFVYKTRN MDMKRLIMVL 250
    AGASEFDPQY NKDATSRPTD NILIPQLIRE IGSINLKKNE PPLTCPYSLK 300
    ARVLLLSHLA RMKIPETLEE DQQFMLKKCP ALLQEMVNVI CQLIVMARNR 350
    EEREFRAPTL ASLENCMKLS QMAVQGLQQF KSPLLQLPHI EEDNLRRVSN 400
    HKKYKIKTIQ DLVSLKESDR HTLLHFLEDE KYEEVMAVLG SFPYVTMDIK 450
    SQVLDDEDSN NITVGSLVTV LVKLTRQTMA EVFEKEQSIC AAEEQPAEDG 500
    QGETNKNRTK GGWQQKSKGP KKTAKSKKKK PLKKKPTPVL LPQSKQQKQK 550
    QANGVVGNEA AVKEDEEEVS DKGSDSEEEE TNRDSQSEKD DGSDRDSDRE 600
    QDEKQNKDDE AEWQELQQSI QRKERALLET KSKITHPVYS LYFPEEKQEW 650
    WWLYIADRKE QTLISMPYHV CTLKDTEEVE LKFPAPGKPG NYQYTVFLRS 700
    DSYMGLDQIK PLKLEVHEAK PVPENHPQWD TAIEGDEDQE DSEGFEDSFE 750
    EEEEEEEDDD 760
    Length:760
    Mass (Da):87,997
    Last modified:January 23, 2007 - v2
    Checksum:i81BBF269A3FCCF0D
    GO

    Sequence cautioni

    The sequence AAH23598.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti115 – 1151A → V in AAH23598. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti556 – 5561V → I.1 Publication
    Corresponds to variant rs17854547 [ dbSNP | Ensembl ].
    VAR_061146
    Natural varianti568 – 5681Missing in PCLD. 1 Publication
    VAR_019645

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ011779 mRNA. Translation: CAB46275.1.
    AF100141 mRNA. Translation: AAC83375.1.
    AL024507 Genomic DNA. Translation: CAI19745.1.
    BC023598 mRNA. Translation: AAH23598.1. Sequence problems.
    BC047221 mRNA. Translation: AAH47221.1.
    BC048287 mRNA. Translation: AAH48287.1.
    AL137338 mRNA. Translation: CAB70701.1.
    CCDSiCCDS5061.1.
    PIRiT46504.
    RefSeqiNP_009145.1. NM_007214.4.
    UniGeneiHs.26904.

    Genome annotation databases

    EnsembliENST00000369002; ENSP00000357998; ENSG00000025796.
    GeneIDi11231.
    KEGGihsa:11231.
    UCSCiuc003psb.4. human.

    Polymorphism databases

    DMDMi18203500.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ011779 mRNA. Translation: CAB46275.1 .
    AF100141 mRNA. Translation: AAC83375.1 .
    AL024507 Genomic DNA. Translation: CAI19745.1 .
    BC023598 mRNA. Translation: AAH23598.1 . Sequence problems.
    BC047221 mRNA. Translation: AAH47221.1 .
    BC048287 mRNA. Translation: AAH48287.1 .
    AL137338 mRNA. Translation: CAB70701.1 .
    CCDSi CCDS5061.1.
    PIRi T46504.
    RefSeqi NP_009145.1. NM_007214.4.
    UniGenei Hs.26904.

    3D structure databases

    ProteinModelPortali Q9UGP8.
    SMRi Q9UGP8. Positions 106-176, 243-477, 628-708.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116397. 3 interactions.
    IntActi Q9UGP8. 5 interactions.
    MINTi MINT-3079991.
    STRINGi 9606.ENSP00000357998.

    Protein family/group databases

    TCDBi 3.A.5.9.1. the general secretory pathway (sec) family.

    PTM databases

    PhosphoSitei Q9UGP8.

    Polymorphism databases

    DMDMi 18203500.

    Proteomic databases

    MaxQBi Q9UGP8.
    PaxDbi Q9UGP8.
    PeptideAtlasi Q9UGP8.
    PRIDEi Q9UGP8.

    Protocols and materials databases

    DNASUi 11231.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000369002 ; ENSP00000357998 ; ENSG00000025796 .
    GeneIDi 11231.
    KEGGi hsa:11231.
    UCSCi uc003psb.4. human.

    Organism-specific databases

    CTDi 11231.
    GeneCardsi GC06M108237.
    HGNCi HGNC:21082. SEC63.
    HPAi HPA053295.
    MIMi 174050. phenotype.
    608648. gene.
    neXtProti NX_Q9UGP8.
    Orphaneti 2924. Isolated polycystic liver disease.
    PharmGKBi PA134936990.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5407.
    HOGENOMi HOG000037933.
    HOVERGENi HBG057075.
    InParanoidi Q9UGP8.
    KOi K09540.
    OMAi TIENCMK.
    OrthoDBi EOG7HMS0K.
    PhylomeDBi Q9UGP8.
    TreeFami TF105904.

    Miscellaneous databases

    ChiTaRSi sec63. human.
    GeneWikii SEC63.
    GenomeRNAii 11231.
    NextBioi 42742.
    PROi Q9UGP8.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UGP8.
    Bgeei Q9UGP8.
    CleanExi HS_SEC63.
    Genevestigatori Q9UGP8.

    Family and domain databases

    Gene3Di 1.10.287.110. 1 hit.
    2.60.40.150. 2 hits.
    InterProi IPR000008. C2_dom.
    IPR001623. DnaJ_domain.
    IPR014756. Ig_E-set.
    IPR027137. Sec63.
    IPR004179. Sec63-dom.
    [Graphical view ]
    PANTHERi PTHR24075. PTHR24075. 1 hit.
    Pfami PF00226. DnaJ. 1 hit.
    PF02889. Sec63. 1 hit.
    [Graphical view ]
    PRINTSi PR00625. JDOMAIN.
    SMARTi SM00271. DnaJ. 1 hit.
    SM00611. SEC63. 1 hit.
    SM00973. Sec63. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46565. SSF46565. 1 hit.
    SSF81296. SSF81296. 2 hits.
    PROSITEi PS50076. DNAJ_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular characterization of a novel mammalian DnaJ-like Sec63p homolog."
      Skowronek M.H., Rotter M., Haas I.G.
      Biol. Chem. 380:1133-1138(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    3. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ILE-556.
    4. "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].
      Tissue: Brain, Kidney and Leukocyte.
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 129-760.
      Tissue: Testis.
    6. Cited for: TISSUE SPECIFICITY, VARIANT PCLD GLU-568 DEL.
    7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-742 AND SER-748, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiSEC63_HUMAN
    AccessioniPrimary (citable) accession number: Q9UGP8
    Secondary accession number(s): O95380
    , Q5THN4, Q86VS9, Q8IWL0, Q9NTE0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 18, 2001
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 131 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 6
      Human chromosome 6: 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

    External Data

    Dasty 3