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Entry version 145 (07 Oct 2020)
Sequence version 1 (01 Oct 2002)
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Protein

Procollagen galactosyltransferase 1

Gene

COLGALT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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). Also involved in the biosynthesis of collagen type IV (PubMed:30412317).4 Publications

Caution

Has no glucosyltransferase activity.Curated

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>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

    <p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

    • procollagen galactosyltransferase activity Source: UniProtKB

    GO - Biological processi

    <p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

    Molecular functionGlycosyltransferase, Transferase

    Enzyme and pathway databases

    BioCyc Collection of Pathway/Genome Databases

    More...
    BioCyci
    MetaCyc:ENSG00000130309-MONOMER

    BRENDA Comprehensive Enzyme Information System

    More...
    BRENDAi
    2.4.1.50, 2681

    Pathway Commons web resource for biological pathway data

    More...
    PathwayCommonsi
    Q8NBJ5

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-1650814, Collagen biosynthesis and modifying enzymes

    SABIO-RK: Biochemical Reaction Kinetics Database

    More...
    SABIO-RKi
    Q8NBJ5

    SIGNOR Signaling Network Open Resource

    More...
    SIGNORi
    Q8NBJ5

    Protein family/group databases

    Carbohydrate-Active enZymes

    More...
    CAZyi
    GT25, Glycosyltransferase Family 25

    <p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
    Name:COLGALT1
    Synonyms:GLT25D1
    ORF Names:PSEC0241
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
    • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

    Organism-specific databases

    Eukaryotic Pathogen Database Resources

    More...
    EuPathDBi
    HostDB:ENSG00000130309.10

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:26182, COLGALT1

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    617531, gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_Q8NBJ5

    <p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

    Keywords - Cellular componenti

    Endoplasmic reticulum

    <p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

    <p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

    Brain small vessel disease 3 (BSVD3)1 Publication
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionAn autosomal recessive form of brain small vessel disease, a cerebrovascular disorder with variable manifestations reflecting the location and severity of the vascular defect. BSVD3 patients may have disease onset in utero or early infancy with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration.
    Related information in OMIM
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_081752151L → R in BSVD3; loss of galactosyltransferase activity. 1 PublicationCorresponds to variant dbSNP:rs1478523191EnsemblClinVar.1
    Natural variantiVAR_081753154A → P in BSVD3. 1 PublicationCorresponds to variant dbSNP:rs181844791EnsemblClinVar.1
    Natural variantiVAR_081754377G → R in BSVD3. 1 PublicationCorresponds to variant dbSNP:rs1568481244EnsemblClinVar.1

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    79709

    MalaCards human disease database

    More...
    MalaCardsi
    COLGALT1
    MIMi618360, phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000130309

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA134991138

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...
    Pharosi
    Q8NBJ5, Tbio

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    COLGALT1

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    74715064

    <p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 29Sequence analysisAdd BLAST29
    <p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000030953630 – 622Procollagen galactosyltransferase 1Add BLAST593

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi96N-linked (GlcNAc...) asparagine1 Publication1
    Glycosylationi184N-linked (GlcNAc...) asparagineSequence analysis1
    Glycosylationi381N-linked (GlcNAc...) asparagine1 Publication1

    <p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

    N-glycosylated.2 Publications

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    The CPTAC Assay portal

    More...
    CPTACi
    CPTAC-1298
    CPTAC-208
    CPTAC-209

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    Q8NBJ5

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    Q8NBJ5

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...
    MassIVEi
    Q8NBJ5

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    Q8NBJ5

    PaxDb, a database of protein abundance averages across all three domains of life

    More...
    PaxDbi
    Q8NBJ5

    PeptideAtlas

    More...
    PeptideAtlasi
    Q8NBJ5

    PRoteomics IDEntifications database

    More...
    PRIDEi
    Q8NBJ5

    ProteomicsDB: a multi-organism proteome resource

    More...
    ProteomicsDBi
    72778

    Consortium for Top Down Proteomics

    More...
    TopDownProteomicsi
    Q8NBJ5

    PTM databases

    GlyConnect protein glycosylation platform

    More...
    GlyConnecti
    1631, 8 N-Linked glycans (3 sites)

    GlyGen: Computational and Informatics Resources for Glycoscience

    More...
    GlyGeni
    Q8NBJ5, 4 sites

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    Q8NBJ5

    Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

    More...
    PhosphoSitePlusi
    Q8NBJ5

    <p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

    <p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000130309, Expressed in heart left ventricle and 228 other tissues

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    Q8NBJ5, baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    Q8NBJ5, HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    ENSG00000130309, Low tissue specificity

    <p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGRID)

    More...
    BioGRIDi
    122826, 40 interactors

    CORUM comprehensive resource of mammalian protein complexes

    More...
    CORUMi
    Q8NBJ5

    Protein interaction database and analysis system

    More...
    IntActi
    Q8NBJ5, 20 interactors

    Molecular INTeraction database

    More...
    MINTi
    Q8NBJ5

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000252599

    Miscellaneous databases

    RNAct, Protein-RNA interaction predictions for model organisms.

    More...
    RNActi
    Q8NBJ5, protein

    <p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

    Motif

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi619 – 622Endoplasmic reticulum retention motif1 Publication4

    <p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

    Belongs to the glycosyltransferase 25 family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG4179, Eukaryota

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00990000203603

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    CLU_024037_2_0_1

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    Q8NBJ5

    KEGG Orthology (KO)

    More...
    KOi
    K11703

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    VVWNNEQ

    Database of Orthologous Groups

    More...
    OrthoDBi
    931915at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    Q8NBJ5

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF313826

    Family and domain databases

    Conserved Domains Database

    More...
    CDDi
    cd06532, Glyco_transf_25, 1 hit

    Gene3D Structural and Functional Annotation of Protein Families

    More...
    Gene3Di
    3.90.550.10, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR002654, Glyco_trans_25
    IPR029044, Nucleotide-diphossugar_trans

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF01755, Glyco_transf_25, 1 hit

    Superfamily database of structural and functional annotation

    More...
    SUPFAMi
    SSF53448, SSF53448, 1 hit

    PROSITE; a protein domain and family database

    More...
    PROSITEi
    View protein in PROSITE
    PS00014, ER_TARGET, 1 hit

    <p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

    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
    <p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iC430974CB1CF5280
    GO

    <p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

    There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    M0QX72M0QX72_HUMAN
    Procollagen galactosyltransferase 1
    COLGALT1
    218Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    M0QYH0M0QYH0_HUMAN
    Procollagen galactosyltransferase 1
    COLGALT1
    138Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti100V → E in BAC11307 (PubMed:16303743).Curated1
    Sequence conflicti220I → T in BAC11307 (PubMed:16303743).Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_081752151L → R in BSVD3; loss of galactosyltransferase activity. 1 PublicationCorresponds to variant dbSNP:rs1478523191EnsemblClinVar.1
    Natural variantiVAR_081753154A → P in BSVD3. 1 PublicationCorresponds to variant dbSNP:rs181844791EnsemblClinVar.1
    Natural variantiVAR_081754377G → R in BSVD3. 1 PublicationCorresponds to variant dbSNP:rs1568481244EnsemblClinVar.1

    Sequence databases

    Select the link destinations:

    EMBL nucleotide sequence database

    More...
    EMBLi

    GenBank nucleotide sequence database

    More...
    GenBanki

    DNA Data Bank of Japan; a nucleotide sequence database

    More...
    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

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS12363.1

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_078932.2, NM_024656.3

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000252599; ENSP00000252599; ENSG00000130309

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    79709

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:79709

    UCSC genome browser

    More...
    UCSCi
    uc002nhc.2, human

    <p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

    <p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

    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

    3D structure databases

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    SWISS-MODEL Interactive Workspace

    More...
    SWISS-MODEL-Workspacei
    Submit a new modelling project...

    Protein-protein interaction databases

    BioGRIDi122826, 40 interactors
    CORUMiQ8NBJ5
    IntActiQ8NBJ5, 20 interactors
    MINTiQ8NBJ5
    STRINGi9606.ENSP00000252599

    Protein family/group databases

    CAZyiGT25, Glycosyltransferase Family 25

    PTM databases

    GlyConnecti1631, 8 N-Linked glycans (3 sites)
    GlyGeniQ8NBJ5, 4 sites
    iPTMnetiQ8NBJ5
    PhosphoSitePlusiQ8NBJ5

    Polymorphism and mutation databases

    BioMutaiCOLGALT1
    DMDMi74715064

    Proteomic databases

    CPTACiCPTAC-1298
    CPTAC-208
    CPTAC-209
    EPDiQ8NBJ5
    jPOSTiQ8NBJ5
    MassIVEiQ8NBJ5
    MaxQBiQ8NBJ5
    PaxDbiQ8NBJ5
    PeptideAtlasiQ8NBJ5
    PRIDEiQ8NBJ5
    ProteomicsDBi72778
    TopDownProteomicsiQ8NBJ5

    Protocols and materials databases

    Antibodypedia a portal for validated antibodies

    More...
    Antibodypediai
    54139, 44 antibodies

    Genome annotation databases

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

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    79709
    DisGeNETi79709
    EuPathDBiHostDB:ENSG00000130309.10

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    COLGALT1
    HGNCiHGNC:26182, COLGALT1
    HPAiENSG00000130309, Low tissue specificity
    MalaCardsiCOLGALT1
    MIMi617531, gene
    618360, phenotype
    neXtProtiNX_Q8NBJ5
    OpenTargetsiENSG00000130309
    PharmGKBiPA134991138

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG4179, Eukaryota
    GeneTreeiENSGT00990000203603
    HOGENOMiCLU_024037_2_0_1
    InParanoidiQ8NBJ5
    KOiK11703
    OMAiVVWNNEQ
    OrthoDBi931915at2759
    PhylomeDBiQ8NBJ5
    TreeFamiTF313826

    Enzyme and pathway databases

    BioCyciMetaCyc:ENSG00000130309-MONOMER
    BRENDAi2.4.1.50, 2681
    PathwayCommonsiQ8NBJ5
    ReactomeiR-HSA-1650814, Collagen biosynthesis and modifying enzymes
    SABIO-RKiQ8NBJ5
    SIGNORiQ8NBJ5

    Miscellaneous databases

    BioGRID ORCS database of CRISPR phenotype screens

    More...
    BioGRID-ORCSi
    79709, 3 hits in 870 CRISPR screens

    ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

    More...
    ChiTaRSi
    COLGALT1, human

    Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

    More...
    GenomeRNAii
    79709
    PharosiQ8NBJ5, Tbio

    Protein Ontology

    More...
    PROi
    PR:Q8NBJ5
    RNActiQ8NBJ5, protein

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000130309, Expressed in heart left ventricle and 228 other tissues
    ExpressionAtlasiQ8NBJ5, baseline and differential
    GenevisibleiQ8NBJ5, HS

    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

    ProtoNet; Automatic hierarchical classification of proteins

    More...
    ProtoNeti
    Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...
    MobiDBi
    Search...

    <p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

    <p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGT251_HUMAN
    <p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8NBJ5
    Secondary accession number(s): Q8NC64
    <p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 4, 2007
    Last sequence update: October 1, 2002
    Last modified: October 7, 2020
    This is version 145 of the entry and version 1 of the sequence. See complete history.
    <p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

    <p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

    Keywords - Technical termi

    Reference proteome

    Documents

    1. Human chromosome 19
      Human chromosome 19: entries, gene names and cross-references to MIM
    2. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    3. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    4. SIMILARITY comments
      Index of protein domains and families
    5. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
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