| Tag | Content |
|---|---|
| Uniprot ID | Q5IGR8 |
| Entrez ID | |
| Genbank protein ID | AAW29033.1 |
| Genbank nucleotide ID | |
| Ensembl protein ID | ENSDARP00000135521 |
| Ensembl nucleotide ID | ENSDARG00000103155 |
| Gene name | Exostosin-1a |
| Gene symbol | ext1a |
| Organism | Danio rerio |
| NCBI taxa ID | 7955 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | Glycosyltransferase required for the biosynthesis of heparan-sulfate. |
| Sequence | MQAKKRYLIL FSAGVCLILL FYLQGPASRR TPKRGDDPHP HWPHFSDPLR AFIPWDQTET 60 EDYNVRASPR HKRDDSTGAD KCRMDSCFDF ELCKRNGFKV YVYPQQKGEK ISESYQNILS 120 SIEGSRFYTS DPGQACLFVL NLDTLDRDQL SPQYVHNLKT KIQNLNLWNN GRNHLIFNLY 180 SGTWPDYTED LGFDIGQAML AKASISTESF RPNFDISIPL FSKDHPRTGG ERGFLKYNTI 240 PPFRKYMLVF KGKRYLTGIG SDTRNALYHI HNAEDVVLLT TCKHGKDWQK HKDARCDKDN 300 AEYDRYDYKE MLHNSTFCLV PRGRRLGSFR FLEALQAACV PVMLSNGWEL PFSEIIDWRT 360 AAVIGDERLL LQIPSTVRSI HQDRILSLRQ QTQFLWEAYF SSVEKIVLTT LEIIQDRVLQ 420 HSAHSTLMWN RLPGGLFTLP QYSSYLGDFP FFYALLGIKP HQKFTAVIHA VTPLVSQSQP 480 IFKLLVAVAK SQFCAQIMVL WNCDKPLPSK HRWPATSVPV IVIEGESKVM SSRFLPYENI 540 ITDAVLSLDE DTVLSTTEVD FAFTVWQSFP ERIVGYPARS HFWDSNKERW GYTSKWTNDY 600 SMVLTGAAFY HRYYNYLYTH YLPGSLKGLV DQLSNCEDIL MNFLVSAVTK MPPIKVTQKK 660 QYKETMMGQT SRASRWADPD HFAQRQTCMN KFASWFGTMP LVHSQMRLDP VLFRDQVSIL 720 RKKYRDIERL |
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 |
|---|---|
| GO:0005794 | Golgi apparatus |
| GO:0030176 | integral component of endoplasmic reticulum membrane |
| GO:0008375 | acetylglucosaminyltransferase activity |
| GO:0050508 | glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity |
| GO:0015020 | glucuronosyltransferase activity |
| GO:0046872 | metal ion binding |
| GO:0050509 | N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity |
| GO:0016757 | transferase activity, transferring glycosyl groups |
| GO:0015012 | heparan sulfate proteoglycan biosynthetic process |
| GO:0006486 | protein glycosylation |