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P39656

- OST48_HUMAN

UniProt

P39656 - OST48_HUMAN

Protein

Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit

Gene

DDOST

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 145 (01 Oct 2014)
      Sequence version 4 (16 Jun 2009)
      Previous versions | rss
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    Functioni

    Essential subunit of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains.

    Catalytic activityi

    Dolichyl diphosphooligosaccharide + [protein]-L-asparagine = dolichyl diphosphate + a glycoprotein with the oligosaccharide chain attached by N-beta-D-glycosyl linkage to a protein L-asparagine.

    Pathwayi

    GO - Molecular functioni

    1. dolichyl-diphosphooligosaccharide-protein glycotransferase activity Source: InterPro
    2. protein binding Source: IntAct

    GO - Biological processi

    1. cellular protein metabolic process Source: Reactome
    2. gene expression Source: Reactome
    3. innate immune response Source: Reactome
    4. post-translational protein modification Source: Reactome
    5. protein glycosylation Source: UniProtKB
    6. protein N-linked glycosylation Source: UniProtKB
    7. protein N-linked glycosylation via asparagine Source: HGNC
    8. response to cytokine Source: UniProtKB
    9. SRP-dependent cotranslational protein targeting to membrane Source: Reactome
    10. T cell activation Source: UniProtKB
    11. translation Source: Reactome

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Enzyme and pathway databases

    ReactomeiREACT_115902. SRP-dependent cotranslational protein targeting to membrane.
    REACT_22426. Asparagine N-linked glycosylation.
    REACT_25195. Advanced glycosylation endproduct receptor signaling.
    UniPathwayiUPA00378.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit (EC:2.4.99.18)
    Short name:
    DDOST 48 kDa subunit
    Short name:
    Oligosaccharyl transferase 48 kDa subunit
    Gene namesi
    Name:DDOST
    Synonyms:KIAA0115, OST48
    ORF Names:OK/SW-cl.45
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:2728. DDOST.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum Source: HPA
    2. endoplasmic reticulum membrane Source: Reactome
    3. integral component of membrane Source: UniProtKB-KW
    4. intracellular membrane-bounded organelle Source: UniProtKB
    5. membrane Source: UniProtKB
    6. oligosaccharyltransferase complex Source: UniProtKB
    7. protein complex Source: UniProtKB

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Congenital disorder of glycosylation 1R (CDG1R) [MIM:614507]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti217 – 2171G → D in CDG1R. 1 Publication
    VAR_067544

    Keywords - Diseasei

    Congenital disorder of glycosylation, Disease mutation

    Organism-specific databases

    MIMi614507. phenotype.
    Orphaneti300536. DDOST-CDG.
    PharmGKBiPA27195.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 4242By similarityAdd
    BLAST
    Chaini43 – 456414Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunitPRO_0000021957Add
    BLAST

    Proteomic databases

    MaxQBiP39656.
    PaxDbiP39656.
    PRIDEiP39656.

    PTM databases

    PhosphoSiteiP39656.

    Expressioni

    Gene expression databases

    ArrayExpressiP39656.
    BgeeiP39656.
    CleanExiHS_DDOST.
    GenevestigatoriP39656.

    Organism-specific databases

    HPAiCAB009746.
    HPA046841.

    Interactioni

    Subunit structurei

    Component of the oligosaccharyltransferase (OST) complex. OST seems to exist in different forms which contain at least RPN1, RPN2, OST48, DAD1, OSTC, KRTCAP2 and either STT3A or STT3B. OST can form stable complexes with the Sec61 complex or with both the Sec61 and TRAP complexes even after release from the ribosome By similarity. Also identified as part of a complex which includes CANX, DERL1, DERL2, DDOST/OST48, RPN1, RPN2, SELK, VIMP, STT3A AND VCP. This contains known members of the OST complex and may be a form of this complex.By similarity1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    TMEM173Q86WV62EBI-358866,EBI-2800345

    Protein-protein interaction databases

    BioGridi108017. 35 interactions.
    IntActiP39656. 19 interactions.
    MINTiMINT-1144346.
    STRINGi9606.ENSP00000364188.

    Structurei

    3D structure databases

    ProteinModelPortaliP39656.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini43 – 427385LumenalSequence AnalysisAdd
    BLAST
    Topological domaini448 – 4569CytoplasmicSequence Analysis

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei428 – 44720HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the DDOST 48 kDa subunit family.Curated

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG263094.
    HOGENOMiHOG000173744.
    HOVERGENiHBG053378.
    InParanoidiP39656.
    KOiK12670.
    OMAiDVSDLGQ.
    OrthoDBiEOG7K6PV7.
    PhylomeDBiP39656.
    TreeFamiTF314821.

    Family and domain databases

    InterProiIPR005013. WBP1.
    [Graphical view]
    PANTHERiPTHR10830. PTHR10830. 1 hit.
    PfamiPF03345. DDOST_48kD. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

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

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P39656-1) [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

    MGYFRCARAG SFGRRRKMEP STAARAWALF WLLLPLLGAV CASGPRTLVL    50
    LDNLNVRETH SLFFRSLKDR GFELTFKTAD DPSLSLIKYG EFLYDNLIIF 100
    SPSVEDFGGN INVETISAFI DGGGSVLVAA SSDIGDPLRE LGSECGIEFD 150
    EEKTAVIDHH NYDISDLGQH TLIVADTENL LKAPTIVGKS SLNPILFRGV 200
    GMVADPDNPL VLDILTGSST SYSFFPDKPI TQYPHAVGKN TLLIAGLQAR 250
    NNARVIFSGS LDFFSDSFFN SAVQKAAPGS QRYSQTGNYE LAVALSRWVF 300
    KEEGVLRVGP VSHHRVGETA PPNAYTVTDL VEYSIVIQQL SNGKWVPFDG 350
    DDIQLEFVRI DPFVRTFLKK KGGKYSVQFK LPDVYGVFQF KVDYNRLGYT 400
    HLYSSTQVSV RPLQHTQYER FIPSAYPYYA SAFSMMLGLF IFSIVFLHMK 450
    EKEKSD 456
    Length:456
    Mass (Da):50,801
    Last modified:June 16, 2009 - v4
    Checksum:i2707ABAC8FF158CB
    GO
    Isoform 2 (identifier: P39656-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         69-105: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:419
    Mass (Da):46,577
    Checksum:i10E4676DD22C6150
    GO
    Isoform 3 (identifier: P39656-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         124-141: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:438
    Mass (Da):49,020
    Checksum:i1757A69899347B0D
    GO

    Sequence cautioni

    The sequence BAB93478.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti229 – 2291P → R in BAG59544. (PubMed:14702039)Curated
    Sequence conflicti343 – 3431G → A in BAA23670. (PubMed:9367678)Curated
    Sequence conflicti434 – 4341S → P in BAA23670. (PubMed:9367678)Curated
    Sequence conflicti434 – 4341S → P in BAA06126. (PubMed:7788527)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti8 – 81R → G.5 Publications
    Corresponds to variant rs537816 [ dbSNP | Ensembl ].
    VAR_047911
    Natural varianti217 – 2171G → D in CDG1R. 1 Publication
    VAR_067544

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei69 – 10537Missing in isoform 2. 1 PublicationVSP_055498Add
    BLAST
    Alternative sequencei124 – 14118Missing in isoform 3. 1 PublicationVSP_055499Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D89060 Genomic DNA. Translation: BAA23670.1.
    D29643 mRNA. Translation: BAA06126.1.
    AK296041 mRNA. Translation: BAG58805.1.
    AK297009 mRNA. Translation: BAG59544.1.
    AK315633 mRNA. Translation: BAG38001.1.
    AL391357 Genomic DNA. Translation: CAH73476.1.
    CH471134 Genomic DNA. Translation: EAW94938.1.
    BC002594 mRNA. Translation: AAH02594.1.
    AB062391 mRNA. Translation: BAB93478.1. Different initiation.
    CCDSiCCDS212.1.
    PIRiS66254. A44654.
    RefSeqiNP_005207.2. NM_005216.4.
    UniGeneiHs.523145.

    Genome annotation databases

    EnsembliENST00000375048; ENSP00000364188; ENSG00000244038. [P39656-1]
    ENST00000415136; ENSP00000399457; ENSG00000244038. [P39656-2]
    ENST00000602624; ENSP00000473655; ENSG00000244038.
    GeneIDi1650.
    KEGGihsa:1650.
    UCSCiuc001bdo.1. human.

    Polymorphism databases

    DMDMi239938926.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D89060 Genomic DNA. Translation: BAA23670.1 .
    D29643 mRNA. Translation: BAA06126.1 .
    AK296041 mRNA. Translation: BAG58805.1 .
    AK297009 mRNA. Translation: BAG59544.1 .
    AK315633 mRNA. Translation: BAG38001.1 .
    AL391357 Genomic DNA. Translation: CAH73476.1 .
    CH471134 Genomic DNA. Translation: EAW94938.1 .
    BC002594 mRNA. Translation: AAH02594.1 .
    AB062391 mRNA. Translation: BAB93478.1 . Different initiation.
    CCDSi CCDS212.1.
    PIRi S66254. A44654.
    RefSeqi NP_005207.2. NM_005216.4.
    UniGenei Hs.523145.

    3D structure databases

    ProteinModelPortali P39656.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108017. 35 interactions.
    IntActi P39656. 19 interactions.
    MINTi MINT-1144346.
    STRINGi 9606.ENSP00000364188.

    Chemistry

    BindingDBi P39656.
    ChEMBLi CHEMBL4239.

    PTM databases

    PhosphoSitei P39656.

    Polymorphism databases

    DMDMi 239938926.

    Proteomic databases

    MaxQBi P39656.
    PaxDbi P39656.
    PRIDEi P39656.

    Protocols and materials databases

    DNASUi 1650.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000375048 ; ENSP00000364188 ; ENSG00000244038 . [P39656-1 ]
    ENST00000415136 ; ENSP00000399457 ; ENSG00000244038 . [P39656-2 ]
    ENST00000602624 ; ENSP00000473655 ; ENSG00000244038 .
    GeneIDi 1650.
    KEGGi hsa:1650.
    UCSCi uc001bdo.1. human.

    Organism-specific databases

    CTDi 1650.
    GeneCardsi GC01M020978.
    GeneReviewsi DDOST.
    HGNCi HGNC:2728. DDOST.
    HPAi CAB009746.
    HPA046841.
    MIMi 602202. gene.
    614507. phenotype.
    neXtProti NX_P39656.
    Orphaneti 300536. DDOST-CDG.
    PharmGKBi PA27195.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG263094.
    HOGENOMi HOG000173744.
    HOVERGENi HBG053378.
    InParanoidi P39656.
    KOi K12670.
    OMAi DVSDLGQ.
    OrthoDBi EOG7K6PV7.
    PhylomeDBi P39656.
    TreeFami TF314821.

    Enzyme and pathway databases

    UniPathwayi UPA00378 .
    Reactomei REACT_115902. SRP-dependent cotranslational protein targeting to membrane.
    REACT_22426. Asparagine N-linked glycosylation.
    REACT_25195. Advanced glycosylation endproduct receptor signaling.

    Miscellaneous databases

    ChiTaRSi DDOST. human.
    GeneWikii DDOST.
    GenomeRNAii 1650.
    NextBioi 6796.
    PROi P39656.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P39656.
    Bgeei P39656.
    CleanExi HS_DDOST.
    Genevestigatori P39656.

    Family and domain databases

    InterProi IPR005013. WBP1.
    [Graphical view ]
    PANTHERi PTHR10830. PTHR10830. 1 hit.
    Pfami PF03345. DDOST_48kD. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Genome organization of human 48-kDa oligosaccharyltransferase (DDOST)."
      Yamagata T., Tsuru T., Momoi M.Y., Suwa K., Nozaki Y., Mukasa T., Ohashi H., Fukushima Y., Momoi T.
      Genomics 45:535-540(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT GLY-8.
    2. "Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1."
      Nagase T., Miyajima N., Tanaka A., Sazuka T., Seki N., Sato S., Tabata S., Ishikawa K., Kawarabayasi Y., Kotani H., Nomura N.
      DNA Res. 2:37-43(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT GLY-8.
      Tissue: Bone marrow.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3), VARIANT GLY-8.
      Tissue: Subthalamic nucleus, Synovium and Umbilical cord blood.
    4. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT GLY-8.
    6. "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), VARIANT GLY-8.
      Tissue: Brain.
    7. "Identification of immuno-peptidmics that are recognized by tumor-reactive CTL generated from TIL of colon cancer patients."
      Shichijo S., Itoh K.
      Submitted (MAY-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 9-456 (ISOFORM 1).
      Tissue: Colon adenocarcinoma.
    8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. "Selenoprotein K binds multiprotein complexes and is involved in the regulation of endoplasmic reticulum homeostasis."
      Shchedrina V.A., Everley R.A., Zhang Y., Gygi S.P., Hatfield D.L., Gladyshev V.N.
      J. Biol. Chem. 286:42937-42948(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION IN A COMPLEX WITH CANX; DERL1; DERL2; RPN1; RPN2; SELK; STT3A; VCP AND VIMP.
    10. "DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation."
      Jones M.A., Ng B.G., Bhide S., Chin E., Rhodenizer D., He P., Losfeld M.E., He M., Raymond K., Berry G., Freeze H.H., Hegde M.R.
      Am. J. Hum. Genet. 90:363-368(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CDG1R ASP-217.

    Entry informationi

    Entry nameiOST48_HUMAN
    AccessioniPrimary (citable) accession number: P39656
    Secondary accession number(s): B2RDQ4
    , B4DJE3, B4DLI2, O43244, Q5VWA5, Q8NI93, Q9BUI2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 1995
    Last sequence update: June 16, 2009
    Last modified: October 1, 2014
    This is version 145 of the entry and version 4 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 1
      Human chromosome 1: 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. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3