| Tag | Content |
|---|---|
| Uniprot ID | A5PK45 |
| Entrez ID | 513167 |
| Genbank protein ID | AAI42351.1 |
| Genbank nucleotide ID | NM_001098955.1 |
| Ensembl protein ID | ENSBTAP00000016841 |
| Ensembl nucleotide ID | ENSBTAG00000012678 |
| Gene name | Procollagen galactosyltransferase 1 |
| Gene symbol | COLGALT1 |
| Organism | Bos taurus |
| NCBI taxa ID | 9913 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| 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 | MAAAPRACKG HGRPLPVLLL LLLLALPPLG GPPGAAAYFP EERWSPESPL QAPRVLIALL 60 ARNAAHALPA TLGALERLRH PRERTALWVA TDHNADNTSA VLREWLVAVK GLYHSVEWRP 120 SEEPRSYPDE EGPKHWSDSR YEHVMKLRQA ALKSARDMWA DYILFVDADN LILNPDTLTL 180 LIAENKTVVA PMLDSRAAYS NFWCGMTSQG YYKRTPAYIP IRKRERRGCF AVPMVHSTFL 240 IDLRKAASRN LAFYPPHPDY TWSFDDIIVF AFSCKQAEVQ MYVCNKEVYG FLPVPLRSHS 300 TLQDEAESFM HVQLEVMVKH PPSEPSRFIS VPTKTPDKMG FDEVFMINLK RRQDRRERML 360 RALEEQEIAC RLVEAVDGKA MNTSQVEALG IQMLPGYRDP YHGRPLTKGE LGCFLSHYNI 420 WKEVVDRGLQ KSLVFEDDLR FEIFFKRRLM NLMQDVEREG LDWDLIYVGR KRMQVEHPEK 480 AVPRVRNLVE ADYSYWTLAY VISLQGARKL LAARPLSKML PVDEFLPVMF DKHPVSEYKA 540 HFSPRDLRAF SVEPLLIYPT HYTGDDGYVS DTETSVVWNN EHVKTDWDRA KSQKMREQQA 600 LSREAKNSDV LQSPLDSAAR DEL 623 |
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.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | COLGALT1 | 513167 | A5PK45 | Bos taurus | Prediction | More>> | ||
| 1:1 ortholog | COLGALT1 | 484834 | F1PMG8 | Canis lupus familiaris | Prediction | More>> | ||
| 1:1 ortholog | COLGALT1 | 102172883 | A0A452FC06 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | COLGALT1 | 79709 | Q8NBJ5 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Colgalt1 | 234407 | Q8K297 | CPO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | COLGALT1 | H2R6A5 | Pan troglodytes | Prediction | More>> | |||
| 1:1 ortholog | COLGALT1 | F1S940 | Sus scrofa | Prediction | More>> | |||
| 1:1 ortholog | Colgalt1 | 290637 | B1H282 | Rattus norvegicus | Prediction | More>> |
| GO ID | GO Term |
|---|---|
| GO:0005788 | endoplasmic reticulum lumen |
| GO:0050211 | procollagen galactosyltransferase activity |
| GO:1904028 | positive regulation of collagen fibril organization |
| PROSITE ID | PROSITE Term |
|---|---|
| PS00014 | ER_TARGET |
| Pfam ID | Pfam Term |
|---|---|
| PF01755 | Glyco_transf_25 |