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Aliases for COLGALT1 Gene

Aliases for COLGALT1 Gene

  • Collagen Beta(1-O)Galactosyltransferase 1 2 3 4 5
  • Glycosyltransferase 25 Domain Containing 1 2 3
  • Glycosyltransferase 25 Family Member 1 3 4
  • Hydroxylysine Galactosyltransferase 1 3 4
  • ColGalT 1 3 4
  • GLT25D1 3 4
  • Procollagen Galactosyltransferase 1 3
  • Hydroxylysine Galactosyltransferase 2
  • Procollagen Galactosyltransferase 2
  • EC 2.4.1.50 4

External Ids for COLGALT1 Gene

Previous HGNC Symbols for COLGALT1 Gene

  • GLT25D1

Previous GeneCards Identifiers for COLGALT1 Gene

  • GC19P017747
  • GC19P017916

Summaries for COLGALT1 Gene

Entrez Gene Summary for COLGALT1 Gene

  • The protein encoded by this gene is one of two enzymes that transfers galactose moieties to hydroxylysine residues of collagen and mannose binding lectin. This gene is constitutively expressed and encodes a soluble protein that localizes to the endoplasmic reticulum. [provided by RefSeq, Dec 2015]

GeneCards Summary for COLGALT1 Gene

COLGALT1 (Collagen Beta(1-O)Galactosyltransferase 1) is a Protein Coding gene. Among its related pathways are Collagen chain trimerization and Degradation of the extracellular matrix. Gene Ontology (GO) annotations related to this gene include procollagen galactosyltransferase activity. An important paralog of this gene is COLGALT2.

UniProtKB/Swiss-Prot for COLGALT1 Gene

  • 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).

Additional gene information for COLGALT1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COLGALT1 Gene

Genomics for COLGALT1 Gene

GeneHancer (GH) Regulatory Elements for COLGALT1 Gene

Promoters and enhancers for COLGALT1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J017552 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 675.8 -0.7 -736 4.4 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF213 COLGALT1 ENSG00000269578 ENSG00000267904 ENSG00000268087 MVB12A ENSG00000268938 ENSG00000268743 GTPBP3 IQCN ENSG00000269191
GH19J017336 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 66.8 -218.2 -218238 2.5 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 GTPBP3 ANO8 CHERP ENSG00000269578 IQCN ENSG00000268743 COLGALT1 C19orf44 HAUS8 SIN3B
GH19J018372 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 30.7 +825.5 825506 18 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 GDF15 NR2C2AP ENSG00000268030 IQCN UPF1 ENSG00000268938 MAU2 MEF2B ENSG00000269191 COLGALT1
GH19J018414 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 31.1 +863.1 863101 9.2 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 MEF2D SSRP1 ZNF610 GLIS1 RCOR2 SSBP4 NR2C2AP ENSG00000268030 MAU2 UPF1 IQCN ENSG00000268938 ENSG00000269191 COLGALT1 MEF2B
GH19J018289 Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 38.7 +736.6 736642 6.1 YBX1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 MEF2D ENSG00000268030 NR2C2AP IQCN UPF1 SUGP2 ENSG00000268938 MVB12A COLGALT1 GTPBP3 ENSG00000269439
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around COLGALT1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for COLGALT1 Gene

Genomic Locations for COLGALT1 Gene
chr19:17,555,594-17,583,162
(GRCh38/hg38)
Size:
27,569 bases
Orientation:
Plus strand
chr19:17,666,403-17,693,971
(GRCh37/hg19)

Genomic View for COLGALT1 Gene

Genes around COLGALT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COLGALT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COLGALT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COLGALT1 Gene

Proteins for COLGALT1 Gene

  • Protein details for COLGALT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NBJ5-GT251_HUMAN
    Recommended name:
    Procollagen galactosyltransferase 1
    Protein Accession:
    Q8NBJ5
    Secondary Accessions:
    • Q8NC64

    Protein attributes for COLGALT1 Gene

    Size:
    622 amino acids
    Molecular mass:
    71636 Da
    Quaternary structure:
    No Data Available

neXtProt entry for COLGALT1 Gene

Post-translational modifications for COLGALT1 Gene

Other Protein References for COLGALT1 Gene

No data available for DME Specific Peptides for COLGALT1 Gene

Domains & Families for COLGALT1 Gene

Gene Families for COLGALT1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for COLGALT1 Gene

Suggested Antigen Peptide Sequences for COLGALT1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8NBJ5

UniProtKB/Swiss-Prot:

GT251_HUMAN :
  • Belongs to the glycosyltransferase 25 family.
Family:
  • Belongs to the glycosyltransferase 25 family.
genes like me logo Genes that share domains with COLGALT1: view

Function for COLGALT1 Gene

Molecular function for COLGALT1 Gene

UniProtKB/Swiss-Prot Function:
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).
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-galactose + [procollagen]-(2S,5R)-5-hydroxy-L-lysine = UDP + [procollagen]-(2S,5R)-5-O-(beta-D-galactosyl)-5-hydroxy-L-lysine.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=18.7 uM for UDP-galactose (at 37 degrees Celsius and pH 7.4) {ECO:0000269 PubMed:19075007}; KM=29.9 uM for UDP-galactose (at 37 degrees Celsius and pH 7.4) {ECO:0000269 PubMed:22216269};

Enzyme Numbers (IUBMB) for COLGALT1 Gene

Phenotypes From GWAS Catalog for COLGALT1 Gene

Gene Ontology (GO) - Molecular Function for COLGALT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0050211 procollagen galactosyltransferase activity TAS,IMP --
genes like me logo Genes that share ontologies with COLGALT1: view
genes like me logo Genes that share phenotypes with COLGALT1: view

Animal Model Products

miRNA for COLGALT1 Gene

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for COLGALT1 Gene

Localization for COLGALT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COLGALT1 Gene

Endoplasmic reticulum lumen. Note=Colocalized with PLOD3 and mannose binding lectin/MBL2.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COLGALT1 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 2
plasma membrane 1
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for COLGALT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with COLGALT1: view

Pathways & Interactions for COLGALT1 Gene

genes like me logo Genes that share pathways with COLGALT1: view

Pathways by source for COLGALT1 Gene

Gene Ontology (GO) - Biological Process for COLGALT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:1904028 positive regulation of collagen fibril organization IMP 27402836
genes like me logo Genes that share ontologies with COLGALT1: view

No data available for SIGNOR curated interactions for COLGALT1 Gene

Drugs & Compounds for COLGALT1 Gene

(2) Drugs for COLGALT1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine 5'-diphosphate Experimental Pharma 0
Uridine diphosphategalactose Experimental Pharma 0
genes like me logo Genes that share compounds with COLGALT1: view

Transcripts for COLGALT1 Gene

Unigene Clusters for COLGALT1 Gene

Collagen beta(1-O)galactosyltransferase 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COLGALT1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c · 13d · 13e ^ 14a · 14b
SP1: - - - - -
SP2: - -
SP3: - - - - -
SP4: -
SP5:
SP6:

Relevant External Links for COLGALT1 Gene

GeneLoc Exon Structure for
COLGALT1
ECgene alternative splicing isoforms for
COLGALT1

Expression for COLGALT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COLGALT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COLGALT1 Gene

This gene is overexpressed in Whole Blood (x4.4).

Protein differential expression in normal tissues from HIPED for COLGALT1 Gene

This gene is overexpressed in Lymph node (12.4), Peripheral blood mononuclear cells (10.1), and Bone marrow stromal cell (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COLGALT1 Gene



Protein tissue co-expression partners for COLGALT1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COLGALT1 Gene:

COLGALT1

SOURCE GeneReport for Unigene cluster for COLGALT1 Gene:

Hs.418795

mRNA Expression by UniProt/SwissProt for COLGALT1 Gene:

Q8NBJ5-GT251_HUMAN
Tissue specificity: Ubiquitous with higher levels in placenta, heart, lung and spleen.

Evidence on tissue expression from TISSUES for COLGALT1 Gene

  • Liver(4.3)
genes like me logo Genes that share expression patterns with COLGALT1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for COLGALT1 Gene

Orthologs for COLGALT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for COLGALT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GLT25D1 34 33
  • 98.79 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Colgalt1 16 34
  • 92 (a)
Glt25d1 33
  • 86.79 (n)
dog
(Canis familiaris)
Mammalia COLGALT1 34 33
  • 90.73 (n)
OneToOne
cow
(Bos Taurus)
Mammalia COLGALT1 34 33
  • 89.66 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COLGALT1 34
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Colgalt1 33
  • 86.05 (n)
oppossum
(Monodelphis domestica)
Mammalia COLGALT1 34
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 84 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia COLGALT1 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488616 33
  • 69.34 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13613 33
zebrafish
(Danio rerio)
Actinopterygii COLGALT1 (3 of 3) 34
  • 75 (a)
OneToMany
COLGALT1 (1 of 3) 34
  • 73 (a)
OneToMany
colgalt1 34 33
  • 68.37 (n)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4024 33
fruit fly
(Drosophila melanogaster)
Insecta CG31915 34
  • 41 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea D2045.9 34
  • 34 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 47 (a)
OneToMany
Species where no ortholog for COLGALT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for COLGALT1 Gene

ENSEMBL:
Gene Tree for COLGALT1 (if available)
TreeFam:
Gene Tree for COLGALT1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COLGALT1: view image

Paralogs for COLGALT1 Gene

Paralogs for COLGALT1 Gene

(5) SIMAP similar genes for COLGALT1 Gene using alignment to 3 proteins:

  • GT251_HUMAN
  • M0QX72_HUMAN
  • M0QYH0_HUMAN
genes like me logo Genes that share paralogs with COLGALT1: view

Variants for COLGALT1 Gene

Sequence variations from dbSNP and Humsavar for COLGALT1 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000092675 -- 17,579,057(+) C/T intron_variant
rs1000152465 -- 17,554,237(+) T/C upstream_transcript_variant
rs1000210078 -- 17,554,537(+) A/G upstream_transcript_variant
rs1000215364 -- 17,563,435(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000332474 -- 17,566,087(+) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for COLGALT1 Gene

Variant ID Type Subtype PubMed ID
esv2422429 CNV duplication 17116639
nsv138503 CNV insertion 16902084
nsv952419 CNV deletion 24416366

Variation tolerance for COLGALT1 Gene

Residual Variation Intolerance Score: 33.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.27; 52.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COLGALT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
COLGALT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COLGALT1 Gene

Disorders for COLGALT1 Gene

Additional Disease Information for COLGALT1

No disorders were found for COLGALT1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for COLGALT1 Gene

Publications for COLGALT1 Gene

  1. Core glycosylation of collagen is initiated by two beta(1-O)galactosyltransferases. (PMID: 19075007) Schegg B … Hennet T (Molecular and cellular biology 2009) 2 3 4 58
  2. Collagen Accumulation in Osteosarcoma Cells lacking GLT25D1 Collagen Galactosyltransferase. (PMID: 27402836) Baumann S … Hennet T (The Journal of biological chemistry 2016) 3 4 58
  3. Identification of domains and amino acids essential to the collagen galactosyltransferase activity of GLT25D1. (PMID: 22216269) Perrin-Tricaud C … Hennet T (PloS one 2011) 3 4 58
  4. The human collagen beta(1-O)galactosyltransferase, GLT25D1, is a soluble endoplasmic reticulum localized protein. (PMID: 20470363) Liefhebber JM … van Leeuwen HC (BMC cell biology 2010) 3 4 58
  5. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4 58

Products for COLGALT1 Gene

Sources for COLGALT1 Gene

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