Gene: TBC1D32

Basic information

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.

Gene expression information

Gene expression in different tissues (GTEx V7)