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P39656 (OST48_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 140. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit

Short name=DDOST 48 kDa subunit
Short name=Oligosaccharyl transferase 48 kDa subunit
EC=2.4.99.18
Gene names
Name:DDOST
Synonyms:KIAA0115, OST48
ORF Names:OK/SW-cl.45
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length456 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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 activity

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.

Pathway

Protein modification; protein glycosylation.

Subunit structure

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. Ref.9

Subcellular location

Endoplasmic reticulum membrane; Single-pass type I membrane protein.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10

Sequence similarities

Belongs to the DDOST 48 kDa subunit family.

Caution

It is uncertain whether Met-1 or Met-18 is the initiator.

Sequence caution

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

Ontologies

Keywords
   Cellular componentEndoplasmic reticulum
Membrane
   Coding sequence diversityPolymorphism
   DiseaseCongenital disorder of glycosylation
Disease mutation
   DomainSignal
Transmembrane
Transmembrane helix
   Molecular functionGlycosyltransferase
Transferase
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processSRP-dependent cotranslational protein targeting to membrane

Traceable author statement. Source: Reactome

T cell activation

Inferred from direct assay PubMed 9642163. Source: UniProtKB

cellular protein metabolic process

Traceable author statement. Source: Reactome

gene expression

Traceable author statement. Source: Reactome

innate immune response

Traceable author statement. Source: Reactome

post-translational protein modification

Traceable author statement. Source: Reactome

protein N-linked glycosylation

Inferred from direct assay PubMed 9642163. Source: UniProtKB

protein N-linked glycosylation via asparagine

Inferred by curator PubMed 15835887. Source: HGNC

protein glycosylation

Inferred from sequence or structural similarity. Source: UniProtKB

response to cytokine

Inferred from direct assay PubMed 9642163. Source: UniProtKB

translation

Traceable author statement. Source: Reactome

   Cellular_componentendoplasmic reticulum

Inferred from direct assay. Source: HPA

endoplasmic reticulum membrane

Traceable author statement. Source: Reactome

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

intracellular membrane-bounded organelle

Inferred from direct assay PubMed 9642163. Source: UniProtKB

oligosaccharyltransferase complex

Inferred from sequence or structural similarity. Source: UniProtKB

protein complex

Inferred from direct assay PubMed 9642163. Source: UniProtKB

   Molecular_functiondolichyl-diphosphooligosaccharide-protein glycotransferase activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

TMEM173Q86WV62EBI-358866,EBI-2800345

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 4242 By similarity
Chain43 – 456414Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit
PRO_0000021957

Regions

Topological domain43 – 427385Lumenal Potential
Transmembrane428 – 44720Helical; Potential
Topological domain448 – 4569Cytoplasmic Potential

Natural variations

Natural variant81R → G. Ref.1 Ref.2 Ref.3 Ref.5 Ref.6
Corresponds to variant rs537816 [ dbSNP | Ensembl ].
VAR_047911
Natural variant2171G → D in CDG1R. Ref.10
VAR_067544

Experimental info

Sequence conflict3431G → A in BAA23670. Ref.1
Sequence conflict4341S → P in BAA23670. Ref.1
Sequence conflict4341S → P in BAA06126. Ref.2

Sequences

Sequence LengthMass (Da)Tools
P39656 [UniParc].

Last modified June 16, 2009. Version 4.
Checksum: 2707ABAC8FF158CB

FASTA45650,801
        10         20         30         40         50         60 
MGYFRCARAG SFGRRRKMEP STAARAWALF WLLLPLLGAV CASGPRTLVL LDNLNVRETH 

        70         80         90        100        110        120 
SLFFRSLKDR GFELTFKTAD DPSLSLIKYG EFLYDNLIIF SPSVEDFGGN INVETISAFI 

       130        140        150        160        170        180 
DGGGSVLVAA SSDIGDPLRE LGSECGIEFD EEKTAVIDHH NYDISDLGQH TLIVADTENL 

       190        200        210        220        230        240 
LKAPTIVGKS SLNPILFRGV GMVADPDNPL VLDILTGSST SYSFFPDKPI TQYPHAVGKN 

       250        260        270        280        290        300 
TLLIAGLQAR NNARVIFSGS LDFFSDSFFN SAVQKAAPGS QRYSQTGNYE LAVALSRWVF 

       310        320        330        340        350        360 
KEEGVLRVGP VSHHRVGETA PPNAYTVTDL VEYSIVIQQL SNGKWVPFDG DDIQLEFVRI 

       370        380        390        400        410        420 
DPFVRTFLKK KGGKYSVQFK LPDVYGVFQF KVDYNRLGYT HLYSSTQVSV RPLQHTQYER 

       430        440        450 
FIPSAYPYYA SAFSMMLGLF IFSIVFLHMK EKEKSD 

« Hide

References

« Hide 'large scale' references
[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], 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. expand/collapse author list , 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], VARIANT GLY-8.
Tissue: Synovium.
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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], 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.
Tissue: Colon adenocarcinoma.
[8]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
D89060 Genomic DNA. Translation: BAA23670.1.
D29643 mRNA. Translation: BAA06126.1.
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.
PIRA44654. S66254.
RefSeqNP_005207.2. NM_005216.4.
UniGeneHs.523145.

3D structure databases

ProteinModelPortalP39656.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108017. 32 interactions.
IntActP39656. 19 interactions.
MINTMINT-1144346.
STRING9606.ENSP00000364188.

Chemistry

BindingDBP39656.
ChEMBLCHEMBL4239.

PTM databases

PhosphoSiteP39656.

Polymorphism databases

DMDM239938926.

Proteomic databases

PaxDbP39656.
PRIDEP39656.

Protocols and materials databases

DNASU1650.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000375048; ENSP00000364188; ENSG00000244038.
ENST00000602624; ENSP00000473655; ENSG00000244038.
GeneID1650.
KEGGhsa:1650.
UCSCuc001bdo.1. human.

Organism-specific databases

CTD1650.
GeneCardsGC01M020978.
HGNCHGNC:2728. DDOST.
HPACAB009746.
HPA046841.
MIM602202. gene.
614507. phenotype.
neXtProtNX_P39656.
Orphanet300536. DDOST-CDG.
PharmGKBPA27195.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG263094.
HOGENOMHOG000173744.
HOVERGENHBG053378.
InParanoidP39656.
KOK12670.
OMALEHTQYE.
OrthoDBEOG7K6PV7.
PhylomeDBP39656.
TreeFamTF314821.

Enzyme and pathway databases

ReactomeREACT_17015. Metabolism of proteins.
REACT_6900. Immune System.
REACT_71. Gene Expression.
UniPathwayUPA00378.

Gene expression databases

ArrayExpressP39656.
BgeeP39656.
CleanExHS_DDOST.
GenevestigatorP39656.

Family and domain databases

InterProIPR005013. WBP1.
[Graphical view]
PANTHERPTHR10830. PTHR10830. 1 hit.
PfamPF03345. DDOST_48kD. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSDDOST. human.
GeneWikiDDOST.
GenomeRNAi1650.
NextBio6796.
PROP39656.
SOURCESearch...

Entry information

Entry nameOST48_HUMAN
AccessionPrimary (citable) accession number: P39656
Secondary accession number(s): B2RDQ4 expand/collapse secondary AC list , O43244, Q5VWA5, Q8NI93, Q9BUI2
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: June 16, 2009
Last modified: April 16, 2014
This is version 140 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM