Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Procollagen galactosyltransferase 1

Gene

COLGALT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Beta-galactosyltransferase that transfers beta-galactose to hydroxylysine residues of type I collagen (PubMed:19075007, PubMed:22216269, PubMed:27402836). By acting on collagen glycosylation, facilitates the formation of collagen triple helix (PubMed:27402836).3 Publications

Catalytic activityi

UDP-alpha-D-galactose + [procollagen]-(2S,5R)-5-hydroxy-L-lysine = UDP + [procollagen]-(2S,5R)-5-O-(beta-D-galactosyl)-5-hydroxy-L-lysine.1 Publication

Kineticsi

  1. KM=18.7 µM for UDP-galactose (at 37 degrees Celsius and pH 7.4)1 Publication
  2. KM=29.9 µM for UDP-galactose (at 37 degrees Celsius and pH 7.4)1 Publication

    GO - Molecular functioni

    • procollagen galactosyltransferase activity Source: UniProtKB

    GO - Biological processi

    • positive regulation of collagen fibril organization Source: UniProtKB

    Keywordsi

    Molecular functionGlycosyltransferase, Transferase

    Enzyme and pathway databases

    BRENDAi2.4.1.50. 2681.
    ReactomeiR-HSA-1650814. Collagen biosynthesis and modifying enzymes.
    SABIO-RKiQ8NBJ5.

    Protein family/group databases

    CAZyiGT25. Glycosyltransferase Family 25.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Procollagen galactosyltransferase 1 (EC:2.4.1.501 Publication)
    Alternative name(s):
    Collagen beta(1-O)galactosyltransferase 1
    Short name:
    ColGalT 1
    Glycosyltransferase 25 family member 1
    Hydroxylysine galactosyltransferase 1
    Gene namesi
    Name:COLGALT1
    Synonyms:GLT25D1
    ORF Names:PSEC0241
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome 19

    Organism-specific databases

    EuPathDBiHostDB:ENSG00000130309.10.
    HGNCiHGNC:26182. COLGALT1.

    Subcellular locationi

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

    Keywords - Cellular componenti

    Endoplasmic reticulum

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Mutagenesisi166D → A: Loss of galactosyltransferase activity; when associated with A-168. 1 Publication1
    Mutagenesisi168D → A: Loss of galactosyltransferase activity; when associated with A-166. 1 Publication1
    Mutagenesisi292P → N: Small decrease of galactosyltransferase activity. 1 Publication1
    Mutagenesisi336D → S: Small decrease of galactosyltransferase activity. 1 Publication1
    Mutagenesisi461D → A: Loss of galactosyltransferase activity; when associated with A-463. 1 Publication1
    Mutagenesisi463D → A: Loss of galactosyltransferase activity; when associated with A-461. 1 Publication1
    Mutagenesisi585D → A: No effect on galactosyltransferase activity; when associated with A-587. 1 Publication1
    Mutagenesisi587D → A: No effect on galactosyltransferase activity; when associated with A-585. 1 Publication1

    Organism-specific databases

    OpenTargetsiENSG00000130309.
    PharmGKBiPA134991138.

    Polymorphism and mutation databases

    BioMutaiCOLGALT1.
    DMDMi74715064.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Signal peptidei1 – 29Sequence analysisAdd BLAST29
    ChainiPRO_000030953630 – 622Procollagen galactosyltransferase 1Add BLAST593

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Glycosylationi96N-linked (GlcNAc...) asparagine1 Publication1
    Glycosylationi184N-linked (GlcNAc...) asparagineSequence analysis1
    Glycosylationi381N-linked (GlcNAc...) asparagine1 Publication1

    Post-translational modificationi

    N-glycosylated.2 Publications

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    EPDiQ8NBJ5.
    MaxQBiQ8NBJ5.
    PaxDbiQ8NBJ5.
    PeptideAtlasiQ8NBJ5.
    PRIDEiQ8NBJ5.
    TopDownProteomicsiQ8NBJ5.

    PTM databases

    iPTMnetiQ8NBJ5.
    PhosphoSitePlusiQ8NBJ5.

    Expressioni

    Tissue specificityi

    Ubiquitous with higher levels in placenta, heart, lung and spleen.1 Publication

    Gene expression databases

    BgeeiENSG00000130309.
    CleanExiHS_GLT25D1.
    ExpressionAtlasiQ8NBJ5. baseline and differential.
    GenevisibleiQ8NBJ5. HS.

    Organism-specific databases

    HPAiHPA047821.

    Interactioni

    Protein-protein interaction databases

    BioGridi122826. 29 interactors.
    IntActiQ8NBJ5. 14 interactors.
    STRINGi9606.ENSP00000252599.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NBJ5.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Motif

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Motifi619 – 622Endoplasmic reticulum retention motif4

    Sequence similaritiesi

    Belongs to the glycosyltransferase 25 family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiKOG4179. Eukaryota.
    ENOG410XQQN. LUCA.
    GeneTreeiENSGT00550000074427.
    HOGENOMiHOG000007198.
    HOVERGENiHBG058097.
    InParanoidiQ8NBJ5.
    KOiK11703.
    OMAiMWADYIL.
    OrthoDBiEOG091G0SKW.
    PhylomeDBiQ8NBJ5.
    TreeFamiTF313826.

    Family and domain databases

    CDDicd06532. Glyco_transf_25. 1 hit.
    Gene3Di3.90.550.10. 1 hit.
    InterProiView protein in InterPro
    IPR002654. Glyco_trans_25.
    IPR029044. Nucleotide-diphossugar_trans.
    PfamiView protein in Pfam
    PF01755. Glyco_transf_25. 1 hit.
    SUPFAMiSSF53448. SSF53448. 1 hit.
    PROSITEiView protein in PROSITE
    PS00014. ER_TARGET. 1 hit.

    Sequencei

    Sequence statusi: Complete.

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

    Q8NBJ5-1 [UniParc]FASTAAdd to basket

    « Hide

            10         20         30         40         50
    MAAAPRAGRR RGQPLLALLL LLLAPLPPGA PPGADAYFPE ERWSPESPLQ
    60 70 80 90 100
    APRVLIALLA RNAAHALPTT LGALERLRHP RERTALWVAT DHNMDNTSTV
    110 120 130 140 150
    LREWLVAVKS LYHSVEWRPA EEPRSYPDEE GPKHWSDSRY EHVMKLRQAA
    160 170 180 190 200
    LKSARDMWAD YILFVDADNL ILNPDTLSLL IAENKTVVAP MLDSRAAYSN
    210 220 230 240 250
    FWCGMTSQGY YKRTPAYIPI RKRDRRGCFA VPMVHSTFLI DLRKAASRNL
    260 270 280 290 300
    AFYPPHPDYT WSFDDIIVFA FSCKQAEVQM YVCNKEEYGF LPVPLRAHST
    310 320 330 340 350
    LQDEAESFMH VQLEVMVKHP PAEPSRFISA PTKTPDKMGF DEVFMINLRR
    360 370 380 390 400
    RQDRRERMLR ALQAQEIECR LVEAVDGKAM NTSQVEALGI QMLPGYRDPY
    410 420 430 440 450
    HGRPLTKGEL GCFLSHYNIW KEVVDRGLQK SLVFEDDLRF EIFFKRRLMN
    460 470 480 490 500
    LMRDVEREGL DWDLIYVGRK RMQVEHPEKA VPRVRNLVEA DYSYWTLAYV
    510 520 530 540 550
    ISLQGARKLL AAEPLSKMLP VDEFLPVMFD KHPVSEYKAH FSLRNLHAFS
    560 570 580 590 600
    VEPLLIYPTH YTGDDGYVSD TETSVVWNNE HVKTDWDRAK SQKMREQQAL
    610 620
    SREAKNSDVL QSPLDSAARD EL
    Length:622
    Mass (Da):71,636
    Last modified:October 1, 2002 - v1
    Checksum:iC430974CB1CF5280
    GO

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Sequence conflicti100V → E in BAC11307 (PubMed:16303743).Curated1
    Sequence conflicti220I → T in BAC11307 (PubMed:16303743).Curated1

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AK074941 mRNA. Translation: BAC11307.1.
    AK075541 mRNA. Translation: BAC11684.1.
    AC010618 Genomic DNA. No translation available.
    CH471106 Genomic DNA. Translation: EAW84622.1.
    BC108308 mRNA. Translation: AAI08309.1.
    CCDSiCCDS12363.1.
    RefSeqiNP_078932.2. NM_024656.3.
    UniGeneiHs.418795.

    Genome annotation databases

    EnsembliENST00000252599; ENSP00000252599; ENSG00000130309.
    GeneIDi79709.
    KEGGihsa:79709.
    UCSCiuc002nhc.2. human.

    Similar proteinsi

    Entry informationi

    Entry nameiGT251_HUMAN
    AccessioniPrimary (citable) accession number: Q8NBJ5
    Secondary accession number(s): Q8NC64
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 4, 2007
    Last sequence update: October 1, 2002
    Last modified: October 25, 2017
    This is version 123 of the entry and version 1 of the sequence. See 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

    Caution

    Has no glucosyltransferase activity.Curated

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 19
      Human chromosome 19: 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. SIMILARITY comments
      Index of protein domains and families