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Protein

Tubby-related protein 3

Gene

TULP3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.2 Publications

GO - Molecular functioni

  • enzyme binding Source: UniProtKB
  • phosphatidylinositol-4,5-bisphosphate binding Source: UniProtKB
  • phosphatidylinositol binding Source: UniProtKB
  • protein-containing complex binding Source: MGI

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein

Enzyme and pathway databases

ReactomeiR-HSA-5610787 Hedgehog 'off' state

Names & Taxonomyi

Protein namesi
Recommended name:
Tubby-related protein 3
Alternative name(s):
Tubby-like protein 3
Gene namesi
Name:TULP3
Synonyms:TUBL3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000078246.15
HGNCiHGNC:12425 TULP3
MIMi604730 gene
neXtProtiNX_O75386

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Cytoplasm, Membrane, Nucleus, Secreted

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi24 – 34RQAKLDYQRLL → AQAAADYAALA in mut12; abolishes association with the IFT complex A (IFT-A) without affecting phosphoinositide binding. Impaired localization to cilia. 1 PublicationAdd BLAST11
Mutagenesisi268 – 270KLR → ALA in TULP3KR; abolishes phosphoinositide binding and impairs localization to cilia. Still associates with the IFT complex A (IFT-A). 1 Publication3

Organism-specific databases

DisGeNETi7289
OpenTargetsiENSG00000078246
PharmGKBiPA37087

Polymorphism and mutation databases

BioMutaiTULP3

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001864701 – 442Tubby-related protein 3Add BLAST442

Proteomic databases

MaxQBiO75386
PaxDbiO75386
PeptideAtlasiO75386
PRIDEiO75386

PTM databases

iPTMnetiO75386
PhosphoSitePlusiO75386

Expressioni

Tissue specificityi

Expressed at high levels in testis, ovaries, thyroid, and spinal chord.1 Publication

Gene expression databases

BgeeiENSG00000078246
CleanExiHS_TULP3
ExpressionAtlasiO75386 baseline and differential
GenevisibleiO75386 HS

Organism-specific databases

HPAiHPA015285
HPA018496

Interactioni

Subunit structurei

Associates with the IFT complex A (IFT-A).

Binary interactionsi

Show more details

GO - Molecular functioni

  • enzyme binding Source: UniProtKB

Protein-protein interaction databases

BioGridi113140, 61 interactors
IntActiO75386, 72 interactors
STRINGi9606.ENSP00000380321

Structurei

3D structure databases

ProteinModelPortaliO75386
SMRiO75386
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni23 – 68Required for association with the IFT complex A (IFT-A)Add BLAST46

Sequence similaritiesi

Belongs to the TUB family.Curated

Phylogenomic databases

eggNOGiKOG2502 Eukaryota
ENOG410XQFT LUCA
GeneTreeiENSGT00610000085970
HOGENOMiHOG000016044
HOVERGENiHBG018010
InParanoidiO75386
OMAiYDHGVSP
OrthoDBiEOG091G04TF
PhylomeDBiO75386

Family and domain databases

Gene3Di3.20.90.10, 1 hit
InterProiView protein in InterPro
IPR025659 Tubby-like_C
IPR000007 Tubby_C
IPR018066 Tubby_C_CS
IPR005398 Tubby_N
PfamiView protein in Pfam
PF01167 Tub, 1 hit
PF16322 Tub_N, 1 hit
PRINTSiPR01573 SUPERTUBBY
PR01574 TUBBYPROTEIN
SUPFAMiSSF54518 SSF54518, 1 hit
PROSITEiView protein in PROSITE
PS01200 TUB_1, 1 hit
PS01201 TUB_2, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O75386-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEASRCRLSP SGDSVFHEEM MKMRQAKLDY QRLLLEKRQR KKRLEPFMVQ
60 70 80 90 100
PNPEARLRRA KPRASDEQTP LVNCHTPHSN VILHGIDGPA AVLKPDEVHA
110 120 130 140 150
PSVSSSVVEE DAENTVDTAS KPGLQERLQK HDISESVNFD EETDGISQSA
160 170 180 190 200
CLERPNSASS QNSTDTGTSG SATAAQPADN LLGDIDDLED FVYSPAPQGV
210 220 230 240 250
TVRCRIIRDK RGMDRGLFPT YYMYLEKEEN QKIFLLAARK RKKSKTANYL
260 270 280 290 300
ISIDPVDLSR EGESYVGKLR SNLMGTKFTV YDRGICPMKG RGLVGAAHTR
310 320 330 340 350
QELAAISYET NVLGFKGPRK MSVIIPGMTL NHKQIPYQPQ NNHDSLLSRW
360 370 380 390 400
QNRTMENLVE LHNKAPVWNS DTQSYVLNFR GRVTQASVKN FQIVHKNDPD
410 420 430 440
YIVMQFGRVA DDVFTLDYNY PLCAVQAFGI GLSSFDSKLA CE
Length:442
Mass (Da):49,642
Last modified:February 6, 2007 - v2
Checksum:i13DBC83305BFAC1D
GO
Isoform 2 (identifier: O75386-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     437-442: SKLACE → KCIQTLRMQELCELHRQHHSAASLVHRTVCQRWVGHPWRLLPQTSLLWTDLSPPPVVPAPHQISM

Note: No experimental confirmation available. Gene prediction based on EST data.
Show »
Length:501
Mass (Da):56,545
Checksum:i15F3B7C6A80F3ABA
GO
Isoform 3 (identifier: O75386-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-19: Missing.
     165-189: DTGTSGSATAAQPADNLLGDIDDLE → FSSFCQKTEDTGYRHFRFCYCRPTS
     190-442: Missing.

Note: No experimental confirmation available.
Show »
Length:170
Mass (Da):19,273
Checksum:i833707F24020C56E
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti168 – 181TSGSA…PADNL → IPVLLLPPNQLITF in AAC95431 (PubMed:9828123).CuratedAdd BLAST14
Sequence conflicti187D → Y in AAH32587 (PubMed:15489334).Curated1
Sequence conflicti193 – 194YS → LV in AAC95431 (PubMed:9828123).Curated2
Sequence conflicti219 – 226PTYYMYLE → SHLLYVLG in AAC95431 (PubMed:9828123).Curated8
Sequence conflicti393I → L in AAC95431 (PubMed:9828123).Curated1
Sequence conflicti429 – 431GIG → AIS in AAC95431 (PubMed:9828123).Curated3

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0557611 – 19Missing in isoform 3. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_055762165 – 189DTGTS…IDDLE → FSSFCQKTEDTGYRHFRFCY CRPTS in isoform 3. 1 PublicationAdd BLAST25
Alternative sequenceiVSP_055763190 – 442Missing in isoform 3. 1 PublicationAdd BLAST253
Alternative sequenceiVSP_054752437 – 442SKLACE → KCIQTLRMQELCELHRQHHS AASLVHRTVCQRWVGHPWRL LPQTSLLWTDLSPPPVVPAP HQISM in isoform 2. Curated6

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF045583 mRNA Translation: AAC95431.1
AK024246 mRNA Translation: BAG51279.1
AK299990 mRNA Translation: BAH13188.1
AC005911 Genomic DNA No translation available.
CH471116 Genomic DNA Translation: EAW88876.1
CH471116 Genomic DNA Translation: EAW88877.1
CH471116 Genomic DNA Translation: EAW88878.1
BC032587 mRNA Translation: AAH32587.1
CCDSiCCDS53737.1 [O75386-2]
CCDS8519.1 [O75386-1]
RefSeqiNP_001153880.1, NM_001160408.1 [O75386-2]
NP_003315.2, NM_003324.4 [O75386-1]
UniGeneiHs.655333

Genome annotation databases

EnsembliENST00000397132; ENSP00000380321; ENSG00000078246 [O75386-2]
ENST00000448120; ENSP00000410051; ENSG00000078246 [O75386-1]
ENST00000540184; ENSP00000444110; ENSG00000078246 [O75386-3]
GeneIDi7289
KEGGihsa:7289
UCSCiuc001qlj.3 human [O75386-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiTULP3_HUMAN
AccessioniPrimary (citable) accession number: O75386
Secondary accession number(s): B3KNB7
, B7Z6A2, D3DUQ4, F8WBZ9, Q8N5B0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: February 6, 2007
Last modified: May 23, 2018
This is version 141 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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