CleftGeneDB-Search

Gene: Tbc1d32

Basic information

Tag	Content
Uniprot ID	Q3URV1
Entrez ID	544696
Genbank protein ID	BAE24586.1
Genbank nucleotide ID	NM_001033385.3
Ensembl protein ID	ENSMUSP00000097328
Ensembl nucleotide ID	ENSMUSG00000038122
Gene name	Protein broad-minded
Gene symbol	Tbc1d32
Organism	Mus musculus
NCBI taxa ID	10090
Cleft type	CPO
Developmental stage
Data sources	Manually collected
Reference	25807483
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.
Sequence	MAHFSSEDEV MLQAMLRQLF QSVKEKITGA PSLECAEEIL LRLEETDENF HNYEFVKYLR 60 QHICNMLGSM IEEEMEKCTS DQNQGEDSGY DTVVQHVTKR TQESKEYKEM MHSLKNIMMV 120 VVEAMINKFE EDETRSEDRQ RKMQSGSCCT DNCSDSDSSF NQSYKFCQGK LRLILDQLDP 180 GQPKEVRYEA LQTLCSAPPS DVLSCENWTT LCEKLTTSLS DPDPMFTDRI LKFYAQTFTL 240 SPLHMTKEIY TSLAKYLEVY FLSRENHLPT LSTGVDITSP NVTRLLKKVR LLNEYQKEAP 300 SFWIRHPEKY MEEIVESTLS LLSVKHEQSH LVPQKILDPI YFFALVDTKA VWFKKWMHAY 360 YSRTAVLRLL EKKYKCLITT AVQQCVQYLE LCEAMKADEI LRHPKHCGTK QKSFYYSGQE 420 LQYIYFIHSL CLLGRLLIYT QGRKLFPIKL KNRKDSVSLT NLLVLFTQLI YYSPSCPKMT 480 SIMCSENYSP ASMVTDVLRM LCDQKECAVE CLYNSTVTEA LLLPIHNLTK GTAAAPDCSE 540 TALIHIADIL ARIASVEEGL ILLLYGENMN SSEEESLTGA HIIAKFSKKL LEEDISIFSG 600 SEMLPVVKGA FISVCRQIYG TCEGLQVLLP YGLHESIAKA WKKTSLLSER IPTPVEGSDS 660 VSSVSQVSPN SVAWEDNLLD DLLNFAATPK GLLLLQRTGA INECVTFMLS QYAKKPQVNR 720 QKKFGYEVLV VQVASTAAGA VALQNSGFIS ALITELWSNL ECGRDDVRLT HPRATPVDPI 780 DRSCQKSFLA LVNLLSYPAV YELTANQELP NKAEYSLREV PTCIIDIMDR LIVLNSEAKI 840 RSLLNYEQSH TFGLRLLSVV CCDLDALLLL EAQYQVSNML LHAQEENTFE ISENHRNFII 900 DGLSVERNHV LVRINLIGGP SERILPPRML EKGDDPYPWP MFSSYPLPHC YQSEGPRSAD 960 LKQDNDIGNL LSCFKMSDKQ TEWIENCRRQ FCKTMKSKPD AVHGSALGEL LEKFVLLLTE 1020 NPSECYFPSV EYTATDANVK NESLSSVQQL GMKMTVRYGR FLNLLKDGAE NELALVLKHC 1080 EKFLKQQQSP VTSSLLCLQG NYAGHDWFVS SLFMIMLGDK GKTFHFLQHF SRLLTSAFLW 1140 VPRLHNSRYL PVDTLGTGIH PIYFCSAHYI EMLLKAEVPL VFSAFHMSGF APSQICLQWI 1200 TQCFWNYLDW IEICHYIATC VVLGPDYQVY VCIAVLKHLQ RDILQHTQTQ DLQVFLKEEA 1260 LHGFRVSNYF EYMENLEQNY RPVLLRDMRS IRVQNT 1296

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 structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	TBC1D32		F1PS18		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	TBC1D32		A0A452FLC7		Capra hircus	Prediction	More>>
1:1 ortholog	TBC1D32	221322	Q96NH3		Homo sapiens	Prediction	More>>
1:1 ortholog	Tbc1d32	544696	Q3URV1	CPO	Mus musculus	Publication	More>>
1:1 ortholog	TBC1D32	472114	A0A2I3TUU2		Pan troglodytes	Prediction	More>>
1:1 ortholog	TBC1D32	100156680	F1SF42		Sus scrofa	Prediction	More>>
1:1 ortholog	Tbc1d32		D4A050		Rattus norvegicus	Prediction	More>>
1:1 ortholog	tbc1d32	566474	Q5RHR6		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs49107684	p.Met66Thr	missense variant	-	NC_000076.6:g.56224684A>G	UniProt
rs230444589	p.Thr379Ser	missense variant	-	NC_000076.6:g.56187829G>C	UniProt
rs251282513	p.Pro404Ser	missense variant	-	NC_000076.6:g.56187755G>A	UniProt
rs234048124	p.Ile470Leu	missense variant	-	NC_000076.6:g.56177540T>G	UniProt
rs218814431	p.Thr480Ala	missense variant	-	NC_000076.6:g.56177510T>C	UniProt
rs47241696	p.Met483Val	missense variant	-	NC_000076.6:g.56177501T>C	UniProt
rs250988441	p.Tyr488Cys	missense variant	-	NC_000076.6:g.56173978T>C	UniProt
rs264736094	p.Met493Val	missense variant	-	NC_000076.6:g.56173964T>C	UniProt
rs219701163	p.Leu523Gln	missense variant	-	NC_000076.6:g.56173873A>T	UniProt
rs250506109	p.Thr529Met	missense variant	-	NC_000076.6:g.56173855G>A	UniProt
rs49293634	p.Thr532Ile	missense variant	-	NC_000076.6:g.56173846G>A	UniProt
rs232514999	p.Val667Glu	missense variant	-	NC_000076.6:g.56161147A>T	UniProt
rs257242112	p.Leu678Val	missense variant	-	NC_000076.6:g.56155799A>C	UniProt
rs239203675	p.Thr688Ile	missense variant	-	NC_000076.6:g.56155768G>A	UniProt
rs245879727	p.Leu695Ile	missense variant	-	NC_000076.6:g.56155748G>T	UniProt
rs217288491	p.Phe707Leu	missense variant	-	NC_000076.6:g.56155712A>G	UniProt
rs230663713	p.Ala790Glu	missense variant	-	NC_000076.6:g.56129167G>T	UniProt
rs254812451	p.Ala790Thr	missense variant	-	NC_000076.6:g.56129168C>T	UniProt
rs46095785	p.Ala866Val	missense variant	-	NC_000076.6:g.56089807G>A	UniProt
rs213859575	p.Arg1060Lys	missense variant	-	NC_000076.6:g.56049869C>T	UniProt
rs254142567	p.Met1114Val	missense variant	-	NC_000076.6:g.56048964T>C	UniProt
rs239769597	p.Gly1121Glu	missense variant	-	NC_000076.6:g.56048942C>T	UniProt
rs219479752	p.Phe1124Leu	missense variant	-	NC_000076.6:g.56048934A>G	UniProt
rs231705180	p.Asn1295Ser	missense variant	-	NC_000076.6:g.56017592T>C	UniProt

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0002088	lens development in camera-type eye	IMP
GO:0003406	retinal pigment epithelium development	IMP
GO:0007224	smoothened signaling pathway	IMP
GO:0007368	determination of left/right symmetry	IMP
GO:0007507	heart development	IMP
GO:0021532	neural tube patterning	IGI
GO:0021915	neural tube development	IMP
GO:0035082	axoneme assembly	ISO
GO:0042733	embryonic digit morphogenesis	IMP
GO:0043010	camera-type eye development	IMP
GO:0060041	retina development in camera-type eye	IMP
GO:0060271	cilium assembly	IBA
GO:0060271	cilium assembly	IGI
GO:0060831	smoothened signaling pathway involved in dorsal/ventral neural tube patterning	IGI
GO:0061512	protein localization to cilium	IMP
GO:1905515	non-motile cilium assembly	IMP
GO:1905515	non-motile cilium assembly	IBA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005575	cellular_component	ND
GO:0005737	cytoplasm	IEA
GO:0005929	cilium	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0966	Cell projection
KW-0969	Cilium
KW-0963	Cytoplasm
KW-0217	Developmental protein
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR032735	BROMI
IPR035969	Rab-GTPase_TBC_sf
IPR039156	UPF0183/BROMI

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF14961	BROMI