Gene: Tulp3

Basic information

Tag Content
Uniprot ID O88413
Entrez ID 22158
Genbank protein ID BAA74752.1; AAC95430.1; AAH60068.1;
Genbank nucleotide ID NM_011657.2
Ensembl protein ID ENSMUSP00000001562
Ensembl nucleotide ID ENSMUSG00000001521
Gene name Tubby-related protein 3
Gene symbol Tulp3
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage
Data sources Manually collected
Reference 11406614
Functional description Negative regulator of the Shh signaling transduction pathway: recruited to primary cilia via association with the IFT complex A (IFT-A) and is required for recruitment of G protein-coupled receptor GPR161 to cilia, a promoter of PKA-dependent basal repression machinery in Shh signaling. Binds to phosphorylated inositide (phosphoinositide) lipids. Both IFT-A- and phosphoinositide-binding properties are required to regulate ciliary G protein-coupled receptor trafficking. Not involved in ciliogenesis. During adipogenesis, regulates ciliary trafficking of FFAR4 in preadipocytes.
Sequence
MEAARCAPGP RGDSAFDDET LRLRQLKLDN QRALLEKKQR KKRLEPLMVQ PNPEARLRRL 60
KPRGSEEHTP LVDPQMPRSD VILHGIDGPA AFLKPEAQDL ESKPQVLSVG SPAPEEGTEG 120
SADGESPEET APKPDLQEIL QKHGILSSVN YDEEPDKEED EGGNLSSPSA RSEESAAASQ 180
KAASETGASG VTAQQGDAQL GEVENLEDFA YSPAPRGVTV KCKVTRDKKG MDRGLFPTYY 240
MHLEREENRK IFLLAGRKRK KSKTSNYLVS TDPTDLSREG ESYIGKLRSN LMGTKFTVYD 300
HGVNPVKAQG LVEKAHTRQE LAAICYETNV LGFKGPRKMS VIIPGMNMNH ERIPFRPRNE 360
HESLLSKWQN KSMENLIELH NKAPVWNDDT QSYVLNFHGR VTQASVKNFQ IVHGNDPDYI 420
VMQFGRVADD VFTLDYNYPL CALQAFAIGL SSFDSKLACE

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 Developmental stage Species Evidence Details
1:1 orthologTULP3F1N7S0Bos taurusPredictionMore>>
1:1 orthologTULP3611832F1PNR7Canis lupus familiarisPredictionMore>>
1:1 orthologTULP3102170303A0A452G8R3Capra hircusPredictionMore>>
1:1 orthologTULP37289O75386Homo sapiensPredictionMore>>
1:1 orthologTulp322158O88413CPOMus musculusPublicationMore>>
1:1 orthologTULP3H2R7L6Pan troglodytesPredictionMore>>
1:1 ortholog100511196A0A480JWW4Sus scrofaPredictionMore>>
1:1 orthologTULP3100341264G1SUQ3Oryctolagus cuniculusPredictionMore>>
1:1 orthologTulp3F1M656Rattus norvegicusPredictionMore>>

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0001664 G protein-coupled receptor bindingISO
GO:0019899 enzyme bindingISO
GO:0035091 phosphatidylinositol bindingISS
GO:0035091 phosphatidylinositol bindingISO
GO:0044877 protein-containing complex bindingISO
GO:0120160 intraciliary transport particle A bindingISO
GO:0120160 intraciliary transport particle A bindingISS

GO:Biological Process

GO ID GO Term Evidence
GO:0001841 neural tube formationIMP
GO:0001843 neural tube closureIMP
GO:0007420 brain developmentIMP
GO:0008277 regulation of G protein-coupled receptor signaling pathwayISS
GO:0008277 regulation of G protein-coupled receptor signaling pathwayISO
GO:0008277 regulation of G protein-coupled receptor signaling pathwayIMP
GO:0008589 regulation of smoothened signaling pathwayIMP
GO:0009952 anterior/posterior pattern specificationIMP
GO:0021904 dorsal/ventral neural tube patterningIMP
GO:0021914 negative regulation of smoothened signaling pathway involved in ventral spinal cord patterningIMP
GO:0021915 neural tube developmentIMP
GO:0021953 central nervous system neuron differentiationIMP
GO:0031076 embryonic camera-type eye developmentIMP
GO:0042733 embryonic digit morphogenesisIMP
GO:0045879 negative regulation of smoothened signaling pathwayISO
GO:0045879 negative regulation of smoothened signaling pathwayIMP
GO:0048702 embryonic neurocranium morphogenesisIMP
GO:0060173 limb developmentIGI
GO:0060173 limb developmentIMP
GO:0060348 bone developmentIMP
GO:0060434 bronchus morphogenesisIMP
GO:0060831 smoothened signaling pathway involved in dorsal/ventral neural tube patterningIMP
GO:0061512 protein localization to ciliumIBA
GO:0061512 protein localization to ciliumIMP
GO:0061512 protein localization to ciliumISO
GO:0061548 ganglion developmentIMP
GO:1901621 negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterningIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0005576 extracellular regionIEA
GO:0005634 nucleusISS
GO:0005634 nucleusISO
GO:0005654 nucleoplasmISO
GO:0005730 nucleolusISO
GO:0005886 plasma membraneISO
GO:0005929 ciliumISO
GO:0005929 ciliumIDA
GO:0005929 ciliumIBA
GO:0005930 axonemeIDA
GO:0097546 ciliary baseISO
GO:0097731 9+0 non-motile ciliumISO

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-162582 Signal TransductionIEA
R-MMU-5358351 Signaling by HedgehogIEA
R-MMU-5610787 Hedgehog 'off' stateIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-1003 Cell membrane
KW-0966 Cell projection
KW-0969 Cilium
KW-0963 Cytoplasm
KW-0217 Developmental protein
KW-0472 Membrane
KW-0539 Nucleus
KW-1185 Reference proteome
KW-0964 Secreted

Interpro

InterPro ID InterPro Term
IPR025659 Tubby-like_C
IPR000007 Tubby_C
IPR018066 Tubby_C_CS
IPR005398 Tubby_N

PROSITE

PROSITE ID PROSITE Term
PS01200 TUB_1
PS01201 TUB_2

Pfam

Pfam ID Pfam Term
PF01167 Tub
PF16322 Tub_N

Protein-protein interaction

Protein-miRNA interaction