| Tag | Content |
|---|---|
| Uniprot ID | Q96NH3; Q5SZD6; Q5SZM6; Q6ZMY4; Q6ZUR7; Q8NB47; |
| Entrez ID | 221322 |
| Genbank protein ID | BAD18591.1; BAB70925.1; BAC03694.1; BAC86152.1; |
| Genbank nucleotide ID | XM_017010398.1; NM_152730.5; XM_017010397.1; XM_005266861.2; XM_017010401.1; |
| Ensembl protein ID | ENSP00000428839; ENSP00000275159; ENSP00000381270; |
| Ensembl nucleotide ID | ENSG00000146350 |
| Gene name | Protein broad-minded |
| Gene symbol | TBC1D32 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | Required for high-level Shh responses in the developing neural tube. Together with CDK20, controls the structure of the primary cilium by coordinating assembly of the ciliary membrane and axoneme, allowing GLI2 to be properly activated in response to Shh signaling (By similarity). |
| Sequence | MAHFSSEDQA MLQAMLRRLF QSVKEKITGA PSLECAEEIL LHLEETDENF HNYEFVKYLR 60 QHIGNTLGSM IEEEMEKCTS DRNQGEECGY DTVVQQVTKR TQESKEYKEM MHYLKNIMIA 120 VVESMINKFE EDETRNQERQ KKIQKEKSHS YRTDNCSDSD SSLNQSYKFC QGKLQLILDQ 180 LDPGQPKEVR YEALQTLCSA PPSDVLNCEN WTTLCEKLTV SLSDPDPVFS DRILKFCAQT 240 FLLSPLHMTK EIYTSLAKYL ESYFLSRENH IPTLSAGVDI TNPNMTRLLK KVRLLNEYQK 300 EAPSFWIRHP EKYMEEIVES TLSLLTVKHN QSHVVSQKIL DPIYFFALVD TKAVWFKKWM 360 HAHYSRTTVL RLLETKYKSL VTTAIQQCVQ YFEMCKTRKA DETLGHSKHC RNKQKTFYYL 420 GQELQYIYFI HSLCLLGRLL IYKQGRKLFP IKLKNKKGLV SLIDLLVLFT QLIYYSPSCP 480 KMTSAAHSEN YSPASMVTEV LWILSDQKEC AVECLYNNIV IETLLQPIHN LMKGNEASPN 540 CSETALIHIA GILARIASVE EGLILLLYGA NMNSSEESPT GAHIIAQFSK KLLDEDISIF 600 SGSEMLPVVK GAFISVCRHI YSTCEGLQVL ITYNLHESIA KAWKKTSLLS ERIPTPVEGS 660 DSVSSVSQES QNIMAWEDNL LDDLLHFAAT PKGLLLLQRT GAINECVTFI FNRYAKKLQV 720 SRHKKFGYGV LVTRVASTAA GGIALKKSGF INELITELWS NLEYGRDDVR VTHPRTTPVD 780 PIDRSCQKSF LALVNLLSYP AIYELVRNQD LPNKTEYSLR EVPTCVIDII DRLIILNSEA 840 KIRSLFNYEQ SHIFGLRDFI IDGLSVERNH VLVRINLVGG PLERILPPRL LEKSDNPYPW 900 PMFSSYPLPN CYLSDITRNA GIKQDNDLDK LLLCLKISDK QTEWIENCQR QFCKMMKAKP 960 DIISGEALIE LLEKFVLHLT ESPSECYFPS VEYTATDANV KNESLSSVQQ LGIKMTVRYG 1020 KFLSLLKDGA ENDLTWVLKH CERFLKQQQT SIKSSLLCLQ GNYAGHDWFV SSLFMIMLGD 1080 KEKTFQFLHQ FSRLLTSAFL WLPRLHISSY LPNDTVESGI HPVYFCSTHY IEMLLKAELP 1140 LVFSAFHMSG FAPSQICLQW ITQCFWNYLD WIEICHYIAT CVFLGPDYQV YICIAVFKHL 1200 QQDILQHTQT QDLQVFLKEE ALHGFRVSDY FEYMEILEQN YRTVLLRDMR NIRLQST 1257 |
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.