Free for academic non-profit institutions. Other users need a Commercial license

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
  • Procollagen Galactosyltransferase 2 3
  • GLT25D1 3 4
  • Procollagen Galactosyltransferase 1 3
  • 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 Lysine degradation and Other types of O-glycan biosynthesis. GO annotations related to this gene include procollagen galactosyltransferase activity. An important paralog of this gene is COLGALT2.

UniProtKB/Swiss-Prot for COLGALT1 Gene

  • Has a beta-galactosyltransferase activity; transfers beta-galactose to hydroxylysine residues of collagen.

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

Genomics for COLGALT1 Gene

Regulatory Elements for COLGALT1 Gene

Enhancers for COLGALT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around COLGALT1 on UCSC Golden Path with GeneCards custom track

Promoters for COLGALT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for COLGALT1 Gene

Chromosome:
19
Start:
17,555,594 bp from pter
End:
17,583,162 bp from pter
Size:
27,569 bases
Orientation:
Plus strand

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

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for COLGALT1 Gene

Domains & Families for COLGALT1 Gene

Gene Families for COLGALT1 Gene

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 BiophysicochemicalProperties:
Kinetic parameters: KM=18.7 uM for UDP-galactose {ECO:0000269 PubMed:19075007};
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-galactose + 5-hydroxy-L-lysine-[procollagen] = UDP + 5-(D-galactosyloxy)-L-lysine-[procollagen].
UniProtKB/Swiss-Prot Function:
Has a beta-galactosyltransferase activity; transfers beta-galactose to hydroxylysine residues of collagen.

Enzyme Numbers (IUBMB) for COLGALT1 Gene

Gene Ontology (GO) - Molecular Function for COLGALT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0050211 procollagen galactosyltransferase activity TAS --
genes like me logo Genes that share ontologies with COLGALT1: view

Phenotypes for COLGALT1 Gene

GenomeRNAi human phenotypes for COLGALT1:
genes like me logo Genes that share phenotypes with COLGALT1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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.

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 IDA 19946888
genes like me logo Genes that share ontologies with COLGALT1: view

No data available for Subcellular locations from COMPARTMENTS for COLGALT1 Gene

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

None

No data available for SIGNOR curated interactions for COLGALT1 Gene

Drugs & Compounds for COLGALT1 Gene

(1) Drugs for COLGALT1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine-5'-Diphosphate Experimental Pharma 0

(1) Additional Compounds for COLGALT1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Uridine diphosphategalactose
  • GDU
  • UDP Galactose
  • UDP-a-D-Galactose
  • UDP-alpha-D-Galactose
  • UDP-alpha-delta-Galactose
2956-16-3
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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.
genes like me logo Genes that share expression patterns with COLGALT1: view

Primer Products

Orthologs for COLGALT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for COLGALT1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia COLGALT1 34
  • 89.66 (n)
  • 94.37 (a)
COLGALT1 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COLGALT1 34
  • 90.73 (n)
  • 97.61 (a)
COLGALT1 35
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Glt25d1 34
  • 86.79 (n)
  • 93.71 (a)
Colgalt1 16
Colgalt1 35
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GLT25D1 34
  • 98.79 (n)
  • 99.15 (a)
GLT25D1 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Colgalt1 34
  • 86.05 (n)
  • 93.88 (a)
oppossum
(Monodelphis domestica)
Mammalia COLGALT1 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COLGALT1 35
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 35
  • 84 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia COLGALT1 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488616 34
  • 69.34 (n)
  • 69.28 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13613 34
zebrafish
(Danio rerio)
Actinopterygii colgalt1 34
  • 68.37 (n)
  • 72.74 (a)
colgalt1 35
  • 69 (a)
OneToMany
COLGALT1 (1 of 3) 35
  • 73 (a)
OneToMany
COLGALT1 (3 of 3) 35
  • 75 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4024 34
fruit fly
(Drosophila melanogaster)
Insecta CG31915 35
  • 41 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea D2045.9 35
  • 34 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

Paralogs for COLGALT1 Gene

Paralogs for COLGALT1 Gene

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

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 Sequence Context AA Info Type
rs3052537 -- 17,565,164(+) AGACT(-/C/CC/CT)TTTTT intron-variant
rs3177708 -- 17,582,110(+) CACCA(C/T)GTTGG utr-variant-3-prime
rs3177716 -- 17,583,157(+) TTTTC(A/C)CAGCA downstream-variant-500B, utr-variant-3-prime
rs3180582 -- 17,583,161(+) CACAG(A/C)AGTTT downstream-variant-500B, utr-variant-3-prime
rs3746317 -- 17,556,110(-) CGATG(A/G)GGGTA intron-variant, upstream-variant-2KB

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)

Relevant External Links 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

Relevant External Links for COLGALT1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Mol. Cell. Biol. 2009) 2 3 4 65
  2. The human collagen beta(1-O)galactosyltransferase, GLT25D1, is a soluble endoplasmic reticulum localized protein. (PMID: 20470363) Liefhebber J.M. … van Leeuwen H.C. (BMC Cell Biol. 2010) 3 4 65
  3. 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 Res. 2005) 3 4 65
  4. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3 65
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3 65

Products for COLGALT1 Gene

Sources for COLGALT1 Gene

Content
Loading form....