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Q9Y673

- ALG5_HUMAN

UniProt

Q9Y673 - ALG5_HUMAN

Protein

Dolichyl-phosphate beta-glucosyltransferase

Gene

ALG5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 120 (01 Oct 2014)
      Sequence version 1 (01 Nov 1999)
      Previous versions | rss
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    Functioni

    Catalytic activityi

    UDP-glucose + dolichyl phosphate = UDP + dolichyl beta-D-glucosyl phosphate.

    Pathwayi

    GO - Molecular functioni

    1. dolichyl-phosphate beta-glucosyltransferase activity Source: UniProtKB-EC
    2. oligosaccharyl transferase activity Source: ProtInc

    GO - Biological processi

    1. cellular protein metabolic process Source: Reactome
    2. determination of left/right symmetry Source: Ensembl
    3. dolichol-linked oligosaccharide biosynthetic process Source: Reactome
    4. post-translational protein modification Source: Reactome
    5. protein glycosylation Source: ProtInc
    6. protein N-linked glycosylation via asparagine Source: Reactome

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Enzyme and pathway databases

    ReactomeiREACT_22346. Synthesis of dolichyl-phosphate-glucose.
    SABIO-RKQ9Y673.
    UniPathwayiUPA00378.

    Protein family/group databases

    CAZyiGT2. Glycosyltransferase Family 2.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Dolichyl-phosphate beta-glucosyltransferase (EC:2.4.1.117)
    Short name:
    DolP-glucosyltransferase
    Alternative name(s):
    Asparagine-linked glycosylation protein 5 homolog
    Gene namesi
    Name:ALG5
    ORF Names:HSPC149
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 13

    Organism-specific databases

    HGNCiHGNC:20266. ALG5.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: Reactome
    2. integral component of membrane Source: UniProtKB-KW
    3. membrane Source: UniProtKB

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134977026.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 324324Dolichyl-phosphate beta-glucosyltransferasePRO_0000059098Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi281 – 2811N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ9Y673.
    PaxDbiQ9Y673.
    PRIDEiQ9Y673.

    PTM databases

    PhosphoSiteiQ9Y673.

    Expressioni

    Tissue specificityi

    Expressed in pancreas, placenta, liver, heart, brain, kidney, skeletal muscle, and lung.

    Gene expression databases

    ArrayExpressiQ9Y673.
    BgeeiQ9Y673.
    CleanExiHS_ALG5.
    GenevestigatoriQ9Y673.

    Organism-specific databases

    HPAiHPA007989.

    Interactioni

    Protein-protein interaction databases

    BioGridi118935. 1 interaction.
    STRINGi9606.ENSP00000239891.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Y673.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 77CytoplasmicSequence Analysis
    Topological domaini29 – 324296LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei8 – 2821Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the glycosyltransferase 2 family.Curated

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0463.
    HOGENOMiHOG000283250.
    HOVERGENiHBG024330.
    InParanoidiQ9Y673.
    KOiK00729.
    OMAiVRMGVFS.
    OrthoDBiEOG7XPZ6G.
    PhylomeDBiQ9Y673.
    TreeFamiTF314844.

    Family and domain databases

    Gene3Di3.90.550.10. 1 hit.
    InterProiIPR001173. Glyco_trans_2-like.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view]
    PfamiPF00535. Glycos_transf_2. 1 hit.
    [Graphical view]
    SUPFAMiSSF53448. SSF53448. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9Y673-1) [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

    MAPLLLQLAV LGAALAAAAL VLISIVAFTT ATKMPALHRH EEEKFFLNAK    50
    GQKETLPSIW DSPTKQLSVV VPSYNEEKRL PVMMDEALSY LEKRQKRDPA 100
    FTYEVIVVDD GSKDQTSKVA FKYCQKYGSD KVRVITLVKN RGKGGAIRMG 150
    IFSSRGEKIL MADADGATKF PDVEKLEKGL NDLQPWPNQM AIACGSRAHL 200
    EKESIAQRSY FRTLLMYGFH FLVWFLCVKG IRDTQCGFKL FTREAASRTF 250
    SSLHVERWAF DVELLYIAQF FKIPIAEIAV NWTEIEGSKL VPFWSWLQMG 300
    KDLLFIRLRY LTGAWRLEQT RKMN 324
    Length:324
    Mass (Da):36,946
    Last modified:November 1, 1999 - v1
    Checksum:i44E1826BAB5B36CB
    GO
    Isoform 2 (identifier: Q9Y673-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         95-124: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:294
    Mass (Da):33,525
    Checksum:i3A5E796B95FDC6C6
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei95 – 12430Missing in isoform 2. 1 PublicationVSP_041019Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF102850 mRNA. Translation: AAD41465.1.
    AF161498 mRNA. Translation: AAF29113.1.
    AK299085 mRNA. Translation: BAG61149.1.
    AL138706 Genomic DNA. Translation: CAI14011.1.
    CH471075 Genomic DNA. Translation: EAX08578.1.
    BC012531 mRNA. Translation: AAH12531.1.
    CCDSiCCDS45033.1. [Q9Y673-2]
    CCDS9361.1. [Q9Y673-1]
    PIRiT51776.
    RefSeqiNP_001135836.1. NM_001142364.1. [Q9Y673-2]
    NP_037470.1. NM_013338.4. [Q9Y673-1]
    UniGeneiHs.507769.

    Genome annotation databases

    EnsembliENST00000239891; ENSP00000239891; ENSG00000120697. [Q9Y673-1]
    ENST00000443765; ENSP00000390533; ENSG00000120697. [Q9Y673-2]
    GeneIDi29880.
    KEGGihsa:29880.
    UCSCiuc001uvy.3. human. [Q9Y673-1]
    uc010teq.2. human. [Q9Y673-2]

    Polymorphism databases

    DMDMi27734217.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Web resourcesi

    GGDB

    GlycoGene database

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF102850 mRNA. Translation: AAD41465.1 .
    AF161498 mRNA. Translation: AAF29113.1 .
    AK299085 mRNA. Translation: BAG61149.1 .
    AL138706 Genomic DNA. Translation: CAI14011.1 .
    CH471075 Genomic DNA. Translation: EAX08578.1 .
    BC012531 mRNA. Translation: AAH12531.1 .
    CCDSi CCDS45033.1. [Q9Y673-2 ]
    CCDS9361.1. [Q9Y673-1 ]
    PIRi T51776.
    RefSeqi NP_001135836.1. NM_001142364.1. [Q9Y673-2 ]
    NP_037470.1. NM_013338.4. [Q9Y673-1 ]
    UniGenei Hs.507769.

    3D structure databases

    ProteinModelPortali Q9Y673.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 118935. 1 interaction.
    STRINGi 9606.ENSP00000239891.

    Protein family/group databases

    CAZyi GT2. Glycosyltransferase Family 2.

    PTM databases

    PhosphoSitei Q9Y673.

    Polymorphism databases

    DMDMi 27734217.

    Proteomic databases

    MaxQBi Q9Y673.
    PaxDbi Q9Y673.
    PRIDEi Q9Y673.

    Protocols and materials databases

    DNASUi 29880.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000239891 ; ENSP00000239891 ; ENSG00000120697 . [Q9Y673-1 ]
    ENST00000443765 ; ENSP00000390533 ; ENSG00000120697 . [Q9Y673-2 ]
    GeneIDi 29880.
    KEGGi hsa:29880.
    UCSCi uc001uvy.3. human. [Q9Y673-1 ]
    uc010teq.2. human. [Q9Y673-2 ]

    Organism-specific databases

    CTDi 29880.
    GeneCardsi GC13M037523.
    HGNCi HGNC:20266. ALG5.
    HPAi HPA007989.
    MIMi 604565. gene.
    neXtProti NX_Q9Y673.
    PharmGKBi PA134977026.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0463.
    HOGENOMi HOG000283250.
    HOVERGENi HBG024330.
    InParanoidi Q9Y673.
    KOi K00729.
    OMAi VRMGVFS.
    OrthoDBi EOG7XPZ6G.
    PhylomeDBi Q9Y673.
    TreeFami TF314844.

    Enzyme and pathway databases

    UniPathwayi UPA00378 .
    Reactomei REACT_22346. Synthesis of dolichyl-phosphate-glucose.
    SABIO-RK Q9Y673.

    Miscellaneous databases

    GenomeRNAii 29880.
    NextBioi 52401.
    PROi Q9Y673.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9Y673.
    Bgeei Q9Y673.
    CleanExi HS_ALG5.
    Genevestigatori Q9Y673.

    Family and domain databases

    Gene3Di 3.90.550.10. 1 hit.
    InterProi IPR001173. Glyco_trans_2-like.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view ]
    Pfami PF00535. Glycos_transf_2. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53448. SSF53448. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic."
      Imbach T., Burda P., Kuhnert P., Wevers R.A., Aebi M., Berger E.G., Hennet T.
      Proc. Natl. Acad. Sci. U.S.A. 96:6982-6987(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells."
      Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X.
      , Gu J., Chen S.-J., Chen Z.
      Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Umbilical cord blood.
    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] (ISOFORM 2).
    4. "The DNA sequence and analysis of human chromosome 13."
      Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
      Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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).
      Tissue: Prostate.
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiALG5_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y673
    Secondary accession number(s): B4DR37, Q5TBA6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 10, 2003
    Last sequence update: November 1, 1999
    Last modified: October 1, 2014
    This is version 120 of the entry and version 1 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 13
      Human chromosome 13: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3