| Tag | Content |
|---|---|
| Uniprot ID | Q9R0E1; Q542E0; Q9CYY9; |
| Entrez ID | 26433 |
| Genbank protein ID | AAD54618.1; AAK00576.1; AAH54734.1; BAB28704.1; BAC28246.1; BAC40669.1; AAH43047.1; |
| Genbank nucleotide ID | NM_011962.3 |
| Ensembl protein ID | ENSMUSP00000004968 |
| Ensembl nucleotide ID | ENSMUSG00000004846 |
| Gene name | Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 |
| Gene symbol | Plod3 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 29208648 |
| Functional description | Multifunctional enzyme that catalyzes a series of post-translational modifications on Lys residues in procollagen (PubMed:16447251). Plays a redundant role in catalyzing the formation of hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens (PubMed:16447251). Plays a redundant role in catalyzing the transfer of galactose onto hydroxylysine groups, giving rise to galactosyl 5-hydroxylysine (By similarity). Has an essential role by catalyzing the subsequent transfer of glucose moieties, giving rise to 1,2-glucosylgalactosyl-5-hydroxylysine residues (PubMed:16447251, PubMed:16467571, PubMed:21220425). Catalyzes hydroxylation and glycosylation of Lys residues in the MBL1 collagen-like domain, giving rise to hydroxylysine and 1,2-glucosylgalactosyl-5-hydroxylysine residues (PubMed:25419660). Catalyzes hydroxylation and glycosylation of Lys residues in the ADIPOQ collagen-like domain, giving rise to hydroxylysine and 1,2-glucosylgalactosyl-5-hydroxylysine residues (PubMed:23209641). Essential for normal biosynthesis and secretion of type IV collagens (PubMed:15377789, PubMed:16467571, PubMed:17873278). Essential for normal formation of basement membranes (PubMed:15377789, PubMed:16467571). |
| Sequence | MAAAGPEPRL LLLLLLLLPP LPPVTSASDR PRGANAVNPD KLLVITVATA ETEGYRRFLQ 60 SAEFFNYTVR TLGLGQEWRG GDVARTVGGG QKVRWLKKEM EKYADQKDMI IMFVDSYDVI 120 LASSPTELLK KFVQSGSHLL FSAESFCWPE WGLAEQYPEV GMGKRFLNSG GFIGFAPTIH 180 QIVRQWNYKD DDDDQLFYTQ LYLDPGLREK LKLSLDHKSR IFQNLNGALD EVILKFDQNR 240 VRIRNVAYDT LPVVVHGNGP TKLQLNYLGN YVPNGWTPQG GCGFCNQTLR TLPGGQPPPR 300 VLLAVFVEQP TPFLPRFLQR LLLLDYPPDR ISLFLHNSEV YHEPHIADAW PQLQDHFSAV 360 KLVGPEEALS AGEARDMAMD SCRQNPECEF YFSLDADAVL TNPETLRVLI EQNRKVIAPM 420 LSRHGKLWSN FWGALSPNEY YARSEDYVEL VQRKRVGVWN VPYISQAYVI RGETLRTELP 480 QKEVFSSSDT DPDMAFCKSV RDKGIFLHLS NQHEFGRLLA TSRYDTDHLH PDLWQIFDNP 540 VDWREQYIHE NYSRALDGEG LVEQPCPDVY WFPLLTEQMC DELVEEMEHY GQWSGGRHED 600 SRLAGGYENV PTVDIHMKQV GYEDQWLQLL RTYVGPMTEY LFPGYHTKTR AVMNFVVRYR 660 PDEQPSLRPH HDSSTFTLNV ALNHKGVDYE GGGCRFLRYD CRISSPRKGW ALLHPGRLTH 720 YHEGLPTTRG TRYIMVSFVD P 741 |
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 | PLOD3 | 514996 | F1MET0 | Bos taurus | Prediction | More>> | ||
| 1:1 ortholog | PLOD3 | 479730 | E2RTL4 | Canis lupus familiaris | Prediction | More>> | ||
| 1:1 ortholog | PLOD3 | 100861039 | A0A452EQP3 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | PLOD3 | 8985 | O60568 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Plod3 | 26433 | Q9R0E1 | CPO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | PLOD3 | I3LA84 | Sus scrofa | Prediction | More>> | |||
| 1:1 ortholog | Plod3 | 288583 | Q5U367 | Rattus norvegicus | Prediction | More>> | ||
| 1:1 ortholog | plod3 | 556077 | A3KNH4 | Danio rerio | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005506 | iron ion binding | IEA |
| GO:0008475 | procollagen-lysine 5-dioxygenase activity | ISO |
| GO:0008475 | procollagen-lysine 5-dioxygenase activity | IDA |
| GO:0008475 | procollagen-lysine 5-dioxygenase activity | IBA |
| GO:0031418 | L-ascorbic acid binding | IEA |
| GO:0033823 | procollagen glucosyltransferase activity | ISO |
| GO:0033823 | procollagen glucosyltransferase activity | IDA |
| GO:0033823 | procollagen glucosyltransferase activity | IBA |
| GO:0050211 | procollagen galactosyltransferase activity | ISS |
| GO:0050211 | procollagen galactosyltransferase activity | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001701 | in utero embryonic development | IMP |
| GO:0001886 | endothelial cell morphogenesis | IMP |
| GO:0006493 | protein O-linked glycosylation | ISO |
| GO:0008104 | protein localization | IMP |
| GO:0017185 | peptidyl-lysine hydroxylation | ISS |
| GO:0017185 | peptidyl-lysine hydroxylation | ISO |
| GO:0017185 | peptidyl-lysine hydroxylation | IDA |
| GO:0017185 | peptidyl-lysine hydroxylation | IBA |
| GO:0017185 | peptidyl-lysine hydroxylation | IMP |
| GO:0021915 | neural tube development | IMP |
| GO:0030199 | collagen fibril organization | IMP |
| GO:0032870 | cellular response to hormone stimulus | IEA |
| GO:0032963 | collagen metabolic process | IMP |
| GO:0042311 | vasodilation | IMP |
| GO:0046947 | hydroxylysine biosynthetic process | IDA |
| GO:0048730 | epidermis morphogenesis | IMP |
| GO:0055114 | oxidation-reduction process | IEA |
| GO:0060425 | lung morphogenesis | IMP |
| GO:0070831 | basement membrane assembly | IMP |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005615 | extracellular space | IDA |
| GO:0005783 | endoplasmic reticulum | ISO |
| GO:0005783 | endoplasmic reticulum | IDA |
| GO:0005783 | endoplasmic reticulum | IBA |
| GO:0005788 | endoplasmic reticulum lumen | IEA |
| GO:0005789 | endoplasmic reticulum membrane | IEA |
| GO:0005791 | rough endoplasmic reticulum | IEA |
| GO:0005794 | Golgi apparatus | ISO |
| GO:0005802 | trans-Golgi network | IDA |
| GO:0062023 | collagen-containing extracellular matrix | HDA |
| GO:0062023 | collagen-containing extracellular matrix | IDA |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-1474244 | Extracellular matrix organization | IEA |
| R-MMU-1474290 | Collagen formation | IEA |
| R-MMU-1650814 | Collagen biosynthesis and modifying enzymes | IEA |
| Keyword ID | Keyword Term |
|---|---|
| KW-0223 | Dioxygenase |
| KW-1015 | Disulfide bond |
| KW-0256 | Endoplasmic reticulum |
| KW-0325 | Glycoprotein |
| KW-0328 | Glycosyltransferase |
| KW-0408 | Iron |
| KW-0464 | Manganese |
| KW-0472 | Membrane |
| KW-0479 | Metal-binding |
| KW-0511 | Multifunctional enzyme |
| KW-0560 | Oxidoreductase |
| KW-1185 | Reference proteome |
| KW-0964 | Secreted |
| KW-0732 | Signal |
| KW-0808 | Transferase |
| KW-0847 | Vitamin C |
| Pfam ID | Pfam Term |
|---|---|
| PF03171 | 2OG-FeII_Oxy |