Tag | Content |
---|---|
Uniprot ID | Q6NXT6; Q8N2S3; Q9NZK9; |
Entrez ID | 202018 |
Genbank protein ID | BAC11022.1; EAW92754.1; AAH66899.1; AAF28308.1; |
Genbank nucleotide ID | NM_153365.2 |
Ensembl protein ID | ENSP00000385347 |
Ensembl nucleotide ID | ENSG00000169762 |
Gene name | Transmembrane anterior posterior transformation protein 1 homolog |
Gene symbol | TAPT1 |
Organism | Homo sapiens |
NCBI taxa ID | 9606 |
Cleft type | |
Developmental stage | |
Data sources | Homology search |
Reference | |
Functional description | Plays a role in primary cilia formation (PubMed:26365339). May act as a downstream effector of HOXC8 possibly by transducing or transmitting extracellular information required for axial skeletal patterning during development (By similarity). May be involved in cartilage and bone development (By similarity). May play a role in the differentiation of cranial neural crest cells (By similarity). |
Sequence | MAGVGDAAAP GEGGGGGVDG PQRDGRGEAE QPGGSGGQGP PPAPQLTETL GFYESDRRRE 60 RRRGRTELSL LRFLSAELTR GYFLEHNEAK YTERRERVYT CLRIPRELEK LMVFGIFLCL 120 DAFLYVFTLL PLRVFLALFR LLTLPCYGLR DRRLLQPAQV CDILKGVILV ICYFMMHYVD 180 YSMMYHLIRG QSVIKLYIIY NMLEVADRLF SSFGQDILDA LYWTATEPKE RKRAHIGVIP 240 HFFMAVLYVF LHAILIMVQA TTLNVAFNSH NKSLLTIMMS NNFVEIKGSV FKKFEKNNLF 300 QMSNSDIKER FTNYVLLLIV CLRNMEQFSW NPDHLWVLFP DVCMVIASEI AVDIVKHAFI 360 TKFNDITADV YSEYRASLAF DLVSSRQKNA YTDYSDSVAR RMGFIPLPLA VLLIRVVTSS 420 IKVQGILSYA CVILFYFGLI SLKVLNSIVL LGKSCQYVKE AKMEEKLSNP PATCTPGKPS 480 SKSQNKCKPS QGLSTEENLS ASITKQPIHQ KENIIPLLVT SNSDQFLTTP DGDEKDITQD 540 NSELKHRSSK KDLLEIDRFT ICGNRID 567 |
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.