| Tag | Content |
|---|---|
| Uniprot ID | P97464; Q61546; |
| Entrez ID | 14042 |
| Genbank protein ID | CAA65443.1; AAH04741.1; AAB41728.1; |
| Genbank nucleotide ID | NM_010162.2 |
| Ensembl protein ID | ENSMUSP00000076505 |
| Ensembl nucleotide ID | ENSMUSG00000061731 |
| Gene name | Exostosin-1 |
| Gene symbol | Ext1 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 19509472 |
| Functional description | Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Required for the exosomal release of SDCBP, CD63 and syndecan (By similarity). |
| Sequence | MQAKKRYFIL LSAGSCLALL FYFGGVQFRA SRSHSRREEH SGRNGLHQPS PDHFWPRFPD 60 ALRPFFPWDQ LENEDSSVHI SPRQKRDANS SIYKGKKCRM ESCFDFTLCK KNGFKVYVYP 120 QQKGEKIAES YQNILAAIEG SRFYTSDPSQ ACLFVLSLDT LDRDQLSPQY VHNLRSKVQS 180 LHLWNNGRNH LIFNLYSGTW PDYTEDVGFD IGQAMLAKAS ISTENFRPNF DVSIPLFSKD 240 HPRTGGERGF LKFNTIPPLR KYMLVFKGKR YLTGIGSDTR NALYHVHNGE DVLLLTTCKH 300 GKDWQKHKDS RCDRDNTEYE KYDYREMLHN ATFCLVPRGR RLGSFRFLEA LQAACVPVML 360 SNGWELPFSE VINWNQAAVI GDERLLLQIP STIRSIHQDK ILALRQQTQF LWEAYFSSVE 420 KIVLTTLEII QDRIFKHISR NSLIWNKHPG GLFVLPQYSS YLGDFPYYYA NLGLKPPSKF 480 TAVIHAVTPL VSQSQPVLKL LVAAAKSQYC AQIIVLWNCD KPLPAKHRWP ATAVPVIVIE 540 GESKVMSSRF LPYDNIITDA VLSLDEDTVL STTEVDFAFT VWQSFPERIV GYPARSHFWD 600 NSKERWGYTS KWTNDYSMVL TGAAIYHKYY HYLYSHYLPA SLKNMVDQLA NCEDILMNFL 660 VSAVTKLPPI KVTQKKQYKE TMMGQTSRAS RWADPDHFAQ RQSCMNTFAS WFGYMPLIHS 720 QMRLDPVLFK DQVSILRKKY RDIERL 746 |
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 | EXT1 | 538602 | A5D7I4 | Bos taurus | Prediction | More>> | ||
| 1:1 ortholog | EXT1 | 482024 | E2QRR1 | Canis lupus familiaris | Prediction | More>> | ||
| 1:1 ortholog | EXT1 | 100056983 | F6TQG8 | Equus caballus | Prediction | More>> | ||
| 1:1 ortholog | EXT1 | 2131 | Q16394 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Ext1 | 14042 | P97464 | CPO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | EXT1 | 107976420 | K7DAN3 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | EXT1 | 100157655 | F1S274 | Sus scrofa | Prediction | More>> | ||
| 1:1 ortholog | Ext1 | 299907 | G3V901 | Rattus norvegicus | Prediction | More>> | ||
| 1:1 ortholog | ext1a | Q5IGR8 | Danio rerio | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0008375 | acetylglucosaminyltransferase activity | ISO |
| GO:0008375 | acetylglucosaminyltransferase activity | IBA |
| GO:0015020 | glucuronosyltransferase activity | ISO |
| GO:0015020 | glucuronosyltransferase activity | IBA |
| GO:0016757 | transferase activity, transferring glycosyl groups | ISO |
| GO:0016757 | transferase activity, transferring glycosyl groups | IBA |
| GO:0042803 | protein homodimerization activity | ISO |
| GO:0046872 | metal ion binding | IEA |
| GO:0046982 | protein heterodimerization activity | ISO |
| GO:0050508 | glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity | IDA |
| GO:0050509 | N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity | IDA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001503 | ossification | ISO |
| GO:0006024 | glycosaminoglycan biosynthetic process | ISO |
| GO:0006486 | protein glycosylation | IEA |
| GO:0007369 | gastrulation | IMP |
| GO:0007411 | axon guidance | IGI |
| GO:0007411 | axon guidance | IMP |
| GO:0007420 | brain development | IMP |
| GO:0007492 | endoderm development | IMP |
| GO:0007498 | mesoderm development | IMP |
| GO:0015012 | heparan sulfate proteoglycan biosynthetic process | ISO |
| GO:0015012 | heparan sulfate proteoglycan biosynthetic process | IDA |
| GO:0015014 | heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process | ISO |
| GO:0021772 | olfactory bulb development | IMP |
| GO:0033692 | cellular polysaccharide biosynthetic process | ISO |
| GO:0072498 | embryonic skeletal joint development | IMP |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000139 | Golgi membrane | IEA |
| GO:0005783 | endoplasmic reticulum | ISO |
| GO:0005794 | Golgi apparatus | ISO |
| GO:0005794 | Golgi apparatus | IBA |
| GO:0030176 | integral component of endoplasmic reticulum membrane | IDA |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-1430728 | Metabolism | IEA |
| R-MMU-1630316 | Glycosaminoglycan metabolism | IEA |
| R-MMU-1638091 | Heparan sulfate/heparin (HS-GAG) metabolism | IEA |
| R-MMU-2022928 | HS-GAG biosynthesis | IEA |
| R-MMU-71387 | Metabolism of carbohydrates | IEA |
| Keyword ID | Keyword Term |
|---|---|
| KW-1015 | Disulfide bond |
| KW-0256 | Endoplasmic reticulum |
| KW-0325 | Glycoprotein |
| KW-0328 | Glycosyltransferase |
| KW-0333 | Golgi apparatus |
| KW-0464 | Manganese |
| KW-0472 | Membrane |
| KW-0479 | Metal-binding |
| KW-1185 | Reference proteome |
| KW-0735 | Signal-anchor |
| KW-0808 | Transferase |
| KW-0812 | Transmembrane |
| KW-1133 | Transmembrane helix |