TULP3
entrez
7289
canonical
uniprot
O75386
canonical
ensembl
ENSG00000078246
resolver
ensp
ENSP00000380321
resolver
ensp
ENSP00000410051
resolver
genesymbol
TULP3
resolver
genesymbol_syn
TUBL3
resolver
hgnc
HGNC:12425
resolver
uniprot
B3KNB7
resolver
uniprot
B7Z1E7
resolver
uniprot
B7Z6A2
resolver
uniprot
D3DUQ4
resolver
uniprot
F8WBZ9
resolver
uniprot
Q8N5B0
resolver
uniprot_entry
B7Z1E7_HUMAN
resolver
uniprot_entry
TULP3_HUMAN
resolver
uniprot_sec
B3KNB7
resolver
uniprot_sec
B7Z6A2
resolver
uniprot_sec
D3DUQ4
resolver
uniprot_sec
F8WBZ9
resolver
uniprot_sec
Q8N5B0
resolver
amino_acid_sequence
MEASRCRLSPSGDSVFHEEMMKMRQAKLDYQRLLLEKRQRKKRLEPFMVQPNPEARLRRAKPRASDEQTPLVNCHTPHSNVILHGIDGPAAVLKPDEVHAPSVSSSVVEEDAENTVDTASKPGLQERLQKHDISESVNFDEETDGISQSACLERPNSASSQNSTDTGTSGSATAAQPADNLLGDIDDLEDFVYSPAPQGVTVRCRIIRDKRGMDRGLFPTYYMYLEKEENQKIFLLAARKRKKSKTANYLISIDPVDLSREGESYVGKLRSNLMGTKFTVYDRGICPMKGRGLVGAAHTRQELAAISYETNVLGFKGPRKMSVIIPGMTLNHKQIPYQPQNNHDSLLSRWQNRTMENLVELHNKAPVWNSDTQSYVLNFRGRVTQASVKNFQIVHKNDPDYIVMQFGRVADDVFTLDYNYPLCAVQAFGIGLSSFDSKLACE
uniprot
proteins
disease_involvement
DISEASE: Hepatorenocardiac degenerative fibrosis (HRCDF) [MIM:619902]: An autosomal recessive disorder characterized by progressive degenerative liver fibrosis, fibrocystic kidney disease, and hypertrophic cardiomyopathy with atypical fibrotic patterns on histopathology. Disease onset is variable, ranging from childhood to adulthood. {ECO:0000269|PubMed:35397207}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Protein-protein adapter that drives transport of G protein-coupled receptors into primary cilia by mediating association between the intraflagellar transport complex A (IFT-A) and G protein-coupled receptors FFAR4, GPR45 and GPR161 (PubMed:11375483, PubMed:20889716, PubMed:31761534, PubMed:36775821). Acts as a negative regulator of the Shh signaling by promoting trafficking of GPR161 to cilia (PubMed:20889716, PubMed:36775821). During adipogenesis, regulates ciliary trafficking of FFAR4 in preadipocytes (PubMed:31761534). Promotes transport of GPR45 into primary cilia of neurons in paraventricular nucleus (PVN) of the hypothalamus (By similarity). Binds to phosphorylated inositide (phosphoinositide) lipids; both IFT-A- and phosphoinositide-binding properties are required to regulate ciliary G protein-coupled receptor trafficking (PubMed:11375483, PubMed:20889716). Besides its role in cilium localization, acts as a regulator of AMP-activated protein kinase (AMPK) activity in response to calorie restriction: binds lithocholic acid, a metabolite generated in response to calorie restriction, promoting TULP3 ability to activate SIRT1, which then deacetylates the ATP6V1E1 subunit of the V-ATPase complex, leading to (1) V-ATPase complex inhibition on lysosomes and (2) AMPK activation via the AXIN1-STK11/LKB1 axis (By similarity). {ECO:0000250|UniProtKB:O88413, ECO:0000269|PubMed:11375483, ECO:0000269|PubMed:20889716, ECO:0000269|PubMed:31761534, ECO:0000269|PubMed:36775821}.
uniprot
proteins
mass_dalton
49642
uniprot
proteins
mutagenesis
MUTAGEN 24..34; /note="RQAKLDYQRLL->AQAAADYAALA: In mut12; abolishes association with the IFT complex A (IFT-A) without affecting phosphoinositide binding. Impaired localization to cilia."; /evidence="ECO:0000269|PubMed:20889716"; MUTAGEN 41..43; /note="KKR->AAA: Decreased interaction with the intraflagellar transport complex A (IFT-A)."; /evidence="ECO:0000269|PubMed:36775821"; MUTAGEN 47..49; /note="FMV->DMD: Decreased interaction with the intraflagellar transport complex A (IFT-A)."; /evidence="ECO:0000269|PubMed:36775821"; MUTAGEN 268..270; /note="KLR->ALA: In TULP3KR; abolishes phosphoinositide binding and impairs localization to cilia. Still associates with the IFT complex A (IFT-A)."; /evidence="ECO:0000269|PubMed:20889716
uniprot
proteins
protein_family
TUB family
uniprot
proteins
pubmed
11375483
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
20889716
uniprot
proteins
pubmed
27932497
uniprot
proteins
pubmed
31761534
uniprot
proteins
pubmed
35397207
uniprot
proteins
pubmed
36775821
uniprot
proteins
pubmed
9828123
uniprot
proteins
sequence_length
442
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000269|PubMed:20889716, ECO:0000269|PubMed:27932497, ECO:0000269|PubMed:35397207}. Cell membrane {ECO:0000269|PubMed:11375483}. Nucleus {ECO:0000269|PubMed:11375483, ECO:0000269|PubMed:20889716}. Cytoplasm {ECO:0000269|PubMed:11375483}. Secreted {ECO:0000250|UniProtKB:O88413}. Note=Does not have a cleavable signal peptide and is secreted by a non-conventional pathway (By similarity). Translocates from the plasma membrane to the nucleus upon activation of guanine nucleotide-binding protein G(q) subunit alpha (PubMed:11375483). {ECO:0000250|UniProtKB:O88413, ECO:0000269|PubMed:11375483}.
uniprot
proteins