| Tag | Content |
|---|---|
| Uniprot ID | Q3UHN9; O70353; Q3TBX3; Q3TDS3; Q8BZE5; Q9R206; |
| Entrez ID | 15531 |
| Genbank protein ID | BAE41527.1; BAE27818.1; BAE42184.1; BAC29136.1; AAC17228.1; AAH79561.1; AAD15980.1; AAH66098.1; |
| Genbank nucleotide ID | NM_001348101.1; NM_001348146.1; XM_006525668.2; XM_011246844.2; XM_006525670.3; XM_006525669.3; XM_006525671.1; XM_006525667.3; NM_001348103.1; NM_008306.5; NM_001348100.1; NM_001348102.1; |
| Ensembl protein ID | ENSMUSP00000158312; ENSMUSP00000126623; |
| Ensembl nucleotide ID | ENSMUSG00000054008 |
| Gene name | Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 |
| Gene symbol | Ndst1 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 18385133; 16020517; 17183530; |
| Functional description | Essential bifunctional enzyme that catalyzes both the N-deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate. Modifies the GlcNAc-GlcA disaccharide repeating sugar backbone to make N-sulfated heparosan, a prerequisite substrate for later modifications in heparin biosynthesis. Plays a role in determining the extent and pattern of sulfation of heparan sulfate. Compared to other NDST enzymes, its presence is absolutely required. Participates in biosynthesis of heparan sulfate that can ultimately serve as L-selectin ligands, thereby playing a role in inflammatory response. Required for the exosomal release of SDCBP, CD63 and syndecan (By similarity). |
| Sequence | MPALACLRRL CRHLSPQAVL FLLFVFCLFS VFVSAYYLYG WNRGLEPSAD ASESDCGDPP 60 PVAPSRLLPI KPVQAVAPSR TDPLVLVFVE SLYSQLGQEV VAILESSRFK YRTEIAPGKG 120 DMPTLTDKGR GRFALIIYEN ILKYVNLDAW NRELLDKYCV AYGVGIIGFF KANENSLLSA 180 QLKGFPLFLH SNLGLKDCSI NPKSPLLYVT RPSEVEKGVL PGEDWTVFQS NHSTYEPVLL 240 AKTRSSESIP HLGADAGLHA ALHATVVQDL GLHDGIQRVL FGNNLNFWLH KLVFVDAVAF 300 LTGKRLSLPL DRYILVDIDD IFVGKEGTRM KVEDVKALFD TQNELRTHIP NFTFNLGYSG 360 KFFHTGTDAE DAGDDLLLSY VKEFWWFPHM WSHMQPHLFH NQSVLAEQMA LNKKFAVEHG 420 IPTDMGYAVA PHHSGVYPVH VQLYEAWKQV WGIRVTSTEE YPHLKPARYR RGFIHNGIMV 480 LPRQTCGLFT HTIFYNEYPG GSSELDKIIN GGELFLTVLL NPISIFMTHL SNYGNDRLGL 540 YTFKHLVRFL HSWTNLRLQT LPPVQLAQKY FQIFSEEKDP LWQDPCEDKR HKDIWSKEKT 600 CDRFPKLLII GPQKTGTTAL YLFLGMHPDL SSNYPSSETF EEIQFFNGHN YHKGIDWYME 660 FFPIPSNTTS DFYFEKSANY FDSEVAPRRA AALLPKAKIL SILINPADRA YSWYQHQRAH 720 DDPVALKYTF HEVITAGPDA SSKLRALQNR CLVPGWYATH IERWLSAFHA NQILVLDGKL 780 LRTEPAKVMD TVQKFLGVTS TVDYHKTLAF DPKKGFWCQL LEGGKTKCLG KSKGRKYPEM 840 DLDSRAFLKD YFRDHNIELS KLLYKMGQTL PTWLREDLQN TR 882 |
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 | NDST1 | 514172 | E1BCG5 | Bos taurus | Prediction | More>> | ||
| 1:1 ortholog | NDST1 | 102174299 | A0A452EZE5 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | NDST1 | 3340 | P52848 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Ndst1 | 15531 | Q3UHN9 | CPO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | NDST1 | 462194 | H2R584 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | NDST1 | M3V841 | Sus scrofa | Prediction | More>> | |||
| 1:1 ortholog | NDST1 | 100344304 | G1T1F7 | Oryctolagus cuniculus | Prediction | More>> | ||
| 1:1 ortholog | Ndst1 | 29633 | Q02353 | Rattus norvegicus | Prediction | More>> | ||
| 1:1 ortholog | ndst1b | 570459 | A0A0R4IR84 | Danio rerio | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005515 | protein binding | IPI |
| GO:0008146 | sulfotransferase activity | IDA |
| GO:0015016 | [heparan sulfate]-glucosamine N-sulfotransferase activity | ISO |
| GO:0015016 | [heparan sulfate]-glucosamine N-sulfotransferase activity | TAS |
| GO:0015016 | [heparan sulfate]-glucosamine N-sulfotransferase activity | IBA |
| GO:0019213 | deacetylase activity | IDA |
| GO:0019213 | deacetylase activity | IBA |
| GO:0042328 | heparan sulfate N-acetylglucosaminyltransferase activity | ISO |
| GO:0042328 | heparan sulfate N-acetylglucosaminyltransferase activity | IBA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000271 | polysaccharide biosynthetic process | IMP |
| GO:0003279 | cardiac septum development | IMP |
| GO:0006476 | protein deacetylation | TAS |
| GO:0006477 | protein sulfation | TAS |
| GO:0006477 | protein sulfation | IMP |
| GO:0006954 | inflammatory response | IEA |
| GO:0007507 | heart development | IMP |
| GO:0007585 | respiratory gaseous exchange by respiratory system | IMP |
| GO:0008543 | fibroblast growth factor receptor signaling pathway | IMP |
| GO:0009887 | animal organ morphogenesis | IMP |
| GO:0015012 | heparan sulfate proteoglycan biosynthetic process | ISO |
| GO:0015014 | heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process | ISO |
| GO:0015014 | heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process | IBA |
| GO:0030203 | glycosaminoglycan metabolic process | IMP |
| GO:0030210 | heparin biosynthetic process | IEA |
| GO:0030900 | forebrain development | IGI |
| GO:0030900 | forebrain development | IMP |
| GO:0030901 | midbrain development | IGI |
| GO:0035904 | aorta development | IMP |
| GO:0043410 | positive regulation of MAPK cascade | IMP |
| GO:0045880 | positive regulation of smoothened signaling pathway | IGI |
| GO:0048702 | embryonic neurocranium morphogenesis | IMP |
| GO:0048703 | embryonic viscerocranium morphogenesis | IMP |
| GO:0060976 | coronary vasculature development | IMP |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000139 | Golgi membrane | IEA |
| GO:0005794 | Golgi apparatus | IBA |
| GO:0016021 | integral component of membrane | IEA |
| 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-0025 | Alternative splicing |
| KW-1015 | Disulfide bond |
| KW-0325 | Glycoprotein |
| KW-0333 | Golgi apparatus |
| KW-0378 | Hydrolase |
| KW-0395 | Inflammatory response |
| KW-0472 | Membrane |
| KW-0511 | Multifunctional enzyme |
| KW-1185 | Reference proteome |
| KW-0735 | Signal-anchor |
| KW-0808 | Transferase |
| KW-0812 | Transmembrane |
| KW-1133 | Transmembrane helix |