Gene: Colgalt1

Basic information

Tag Content
Uniprot ID Q8K297; Q3V3R5; Q6PGL1;
Entrez ID 234407
Genbank protein ID AAH32165.1; AAH56951.1; BAE43293.1;
Genbank nucleotide ID NM_146211.3
Ensembl protein ID ENSMUSP00000047923
Ensembl nucleotide ID ENSMUSG00000034807
Gene name Procollagen galactosyltransferase 1
Gene symbol Colgalt1
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage
Data sources Manually collected
Reference 29208648
Functional description Beta-galactosyltransferase that transfers beta-galactose to hydroxylysine residues of type I collagen. By acting on collagen glycosylation, facilitates the formation of collagen triple helix. Also involved in the biosynthesis of collagen type IV.
Sequence
MAALPRGSRG LPLLPLLLLL PPLGGPRGAD GYFPEERWSP ESPLQAPRVL IALLARNAAP 60
ALPATLGALE QLRHPRERTA LWVATDHNTD NTSAILREWL VAVKGLYHSV EWRPAEEPSS 120
YPDEEGPKHW SDSRYEHVMK LRQAALKSAR DMWADYILFM DIDNLITNPD TLSLLIAENK 180
TVVAPMLDSR AAYSNFWCGM TSQGYYKRTP AYIPIRKRDR RGCFAVPMVH STFLIDLRKA 240
ASRNLAFYPT HPDYTWSFDD IIVFAFSCKQ AEVQMYVCNK EVYGFLPVPL RAHSSLQDEA 300
ESFMHVQLEV MVKHPPVQLS RFISAPRKTS DKMGFDEVFM INLKRRRDRR ERMLRALHEQ 360
EIDCQLVEAV DGKAMNTSQV EAMGIQMLPG YRDPYHGRPL TKGELGCFLS HYNIWKEVVD 420
RGLQKSLVFE DDLRFEIFFK RRLMNLMRDV EREGLDWDLI YVGRKRMQVE HPEKAVPHVR 480
NLVEADYSYW TLAYVISLQG AQKLLAAKPL AKMLPVDEFL PVMFDKHPMS EYKSHFSPRN 540
LRAFSVEPLL IYPTHYTGDD GYVSDTETSV VWNNEQVKTD WDRAKSQKMR EQQALSREAK 600
NSDVLQSPLD STARDEL 617

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologCOLGALT1513167A5PK45Bos taurusPredictionMore>>
1:1 orthologCOLGALT1484834F1PMG8Canis lupus familiarisPredictionMore>>
1:1 orthologCOLGALT1102172883A0A452FC06Capra hircusPredictionMore>>
1:1 orthologCOLGALT179709Q8NBJ5Homo sapiensPredictionMore>>
1:1 orthologColgalt1234407Q8K297CPOMus musculusPublicationMore>>
1:1 orthologCOLGALT1H2R6A5Pan troglodytesPredictionMore>>
1:1 orthologCOLGALT1F1S940Sus scrofaPredictionMore>>
1:1 orthologColgalt1290637B1H282Rattus norvegicusPredictionMore>>

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0050211 procollagen galactosyltransferase activityISS
GO:0050211 procollagen galactosyltransferase activityISO
GO:0050211 procollagen galactosyltransferase activityIBA

GO:Biological Process

GO ID GO Term Evidence
GO:1904028 positive regulation of collagen fibril organizationISS
GO:1904028 positive regulation of collagen fibril organizationISO

GO:Cellular Component

GO ID GO Term Evidence
GO:0005788 endoplasmic reticulum lumenISS
GO:0005788 endoplasmic reticulum lumenISO

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-1474244 Extracellular matrix organizationIEA
R-MMU-1474290 Collagen formationIEA
R-MMU-1650814 Collagen biosynthesis and modifying enzymesIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0256 Endoplasmic reticulum
KW-0325 Glycoprotein
KW-0328 Glycosyltransferase
KW-1185 Reference proteome
KW-0732 Signal
KW-0808 Transferase

Interpro

InterPro ID InterPro Term
IPR002654 Glyco_trans_25
IPR029044 Nucleotide-diphossugar_trans

PROSITE

PROSITE ID PROSITE Term
PS00014 ER_TARGET

Pfam

Pfam ID Pfam Term
PF01755 Glyco_transf_25