Gene: EXT1

Basic information

Tag Content
Uniprot ID A5D7I4
Entrez ID 538602
Genbank protein ID AAI40569.1
Genbank nucleotide ID NM_001098095.2
Ensembl protein ID ENSBTAP00000008154
Ensembl nucleotide ID ENSBTAG00000006209
Gene name Exostosin-1
Gene symbol EXT1
Organism Bos taurus
NCBI taxa ID 9913
Cleft type
Developmental stage
Data sources Homology search
Reference
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 FYFGGLQFRA SRSHSRREEH SGRNGLHHPS PDHFWPRFPD 60
ALRPFVPWDQ LENEDSSVHV SPRQKREANS SIYKGKKCRM ESCFDFTLCK KNGFKVYVYP 120
QQKGEKIAES YQNILAAIEG SRFYTSDPSQ ACLFVLSLDT LDRDQLSPQY VHNLRSKVQS 180
LHLWNNGRNH LIFNLYSGTW PDYTEDVGFD IGQAMLAKAS ISTENFRPNF DVSIPLFSKD 240
HPRTGGERGF LKFNTIPPLR KYMLVFKGKR YLTGIGSDTR NALYHVHNGE DVVLLTTCKH 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 ATSVPVIVIE 540
GESKVMSSRF LPYDNIITDA VLSLDEDTVL STTEVDFAFT VWQSFPERIV GYPARSHFWD 600
NSKERWGYTS KWTNDYSMVL TGAAIYHKYY HYLYTHYLPA 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.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologEXT1538602A5D7I4Bos taurusPredictionMore>>
1:1 orthologEXT1482024E2QRR1Canis lupus familiarisPredictionMore>>
1:1 orthologEXT1100056983F6TQG8Equus caballusPredictionMore>>
1:1 orthologEXT12131Q16394Homo sapiensPredictionMore>>
1:1 orthologExt114042P97464CPOMus musculusPublicationMore>>
1:1 orthologEXT1107976420K7DAN3Pan troglodytesPredictionMore>>
1:1 orthologEXT1100157655F1S274Sus scrofaPredictionMore>>
1:1 orthologExt1299907G3V901Rattus norvegicusPredictionMore>>
1:1 orthologext1aQ5IGR8Danio rerioPredictionMore>>

Gene ontology

GO ID GO Term
GO:0005794 Golgi apparatus
GO:0000139 Golgi membrane
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:0046982 protein heterodimerization activity
GO:0042803 protein homodimerization activity
GO:0016757 transferase activity, transferring glycosyl groups
GO:0007411 axon guidance
GO:0072498 embryonic skeletal joint development
GO:0007492 endoderm development
GO:0007369 gastrulation
GO:0006024 glycosaminoglycan biosynthetic process
GO:0015014 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process
GO:0007498 mesoderm development
GO:0021772 olfactory bulb development
GO:0001503 ossification
GO:0006486 protein glycosylation

Functional annotations

Keywords

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

Interpro

InterPro ID InterPro Term
IPR004263 Exostosin
IPR027670 Exostosin-1
IPR040911 Exostosin_GT47
IPR015338 GT64
IPR029044 Nucleotide-diphossugar_trans

PROSITE

PROSITE ID PROSITE Term

Pfam

Pfam ID Pfam Term
PF03016 Exostosin
PF09258 Glyco_transf_64