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Protein

Tubby-related protein 3

Gene

TULP3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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 complex binding Source: MGI

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Enzyme and pathway databases

BioCyciZFISH:ENSG00000078246-MONOMER.
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

HGNCiHGNC:12425. TULP3.

Subcellular locationi

  • Nucleus
  • Cell membrane
  • Cell projectioncilium
  • Cytoplasm By similarity
  • Secreted By similarity

  • 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.By similarity

GO - Cellular componenti

  • axoneme Source: Ensembl
  • ciliary base Source: MGI
  • cilium Source: UniProtKB
  • cytoplasm Source: UniProtKB-SubCell
  • extracellular region Source: UniProtKB-SubCell
  • nucleolus Source: HPA
  • nucleus Source: UniProtKB
  • plasma membrane Source: UniProtKB
Complete GO annotation...

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

WithEntry#Exp.IntActNotes
ANKRD54Q6NXT15EBI-5357290,EBI-10102770
KRTAP10-5P603703EBI-5357290,EBI-10172150
KRTAP10-7P604093EBI-5357290,EBI-10172290
MAGEA6P433605EBI-5357290,EBI-1045155
PSTPIP1O435865EBI-5357290,EBI-1050964
ROPN1Q9HAT03EBI-5357290,EBI-1378139
vprP125202EBI-5357290,EBI-6164519From a different organism.

GO - Molecular functioni

  • enzyme binding Source: UniProtKB
  • protein complex binding Source: MGI

Protein-protein interaction databases

BioGridi113140. 51 interactors.
IntActiO75386. 71 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.
OMAiAFEDETM.
OrthoDBiEOG091G04TF.
PhylomeDBiO75386.

Family and domain databases

Gene3Di3.20.90.10. 1 hit.
InterProiIPR000007. Tubby_C.
IPR025659. Tubby_C-like.
IPR018066. Tubby_C_CS.
IPR005398. Tubby_N.
[Graphical view]
PfamiPF01167. Tub. 1 hit.
PF16322. Tub_N. 1 hit.
[Graphical view]
PRINTSiPR01573. SUPERTUBBY.
PR01574. TUBBYPROTEIN.
SUPFAMiSSF54518. SSF54518. 1 hit.
PROSITEiPS01200. TUB_1. 1 hit.
PS01201. TUB_2. 1 hit.
[Graphical view]

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliO75386.
SMRiO75386.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113140. 51 interactors.
IntActiO75386. 71 interactors.
STRINGi9606.ENSP00000380321.

PTM databases

iPTMnetiO75386.
PhosphoSitePlusiO75386.

Polymorphism and mutation databases

BioMutaiTULP3.

Proteomic databases

MaxQBiO75386.
PaxDbiO75386.
PeptideAtlasiO75386.
PRIDEiO75386.

Protocols and materials databases

DNASUi7289.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi7289.
DisGeNETi7289.
GeneCardsiTULP3.
HGNCiHGNC:12425. TULP3.
HPAiHPA015285.
HPA018496.
MIMi604730. gene.
neXtProtiNX_O75386.
OpenTargetsiENSG00000078246.
PharmGKBiPA37087.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2502. Eukaryota.
ENOG410XQFT. LUCA.
GeneTreeiENSGT00610000085970.
HOGENOMiHOG000016044.
HOVERGENiHBG018010.
InParanoidiO75386.
OMAiAFEDETM.
OrthoDBiEOG091G04TF.
PhylomeDBiO75386.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000078246-MONOMER.
ReactomeiR-HSA-5610787. Hedgehog 'off' state.

Miscellaneous databases

ChiTaRSiTULP3. human.
GenomeRNAii7289.
PROiO75386.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000078246.
CleanExiHS_TULP3.
ExpressionAtlasiO75386. baseline and differential.
GenevisibleiO75386. HS.

Family and domain databases

Gene3Di3.20.90.10. 1 hit.
InterProiIPR000007. Tubby_C.
IPR025659. Tubby_C-like.
IPR018066. Tubby_C_CS.
IPR005398. Tubby_N.
[Graphical view]
PfamiPF01167. Tub. 1 hit.
PF16322. Tub_N. 1 hit.
[Graphical view]
PRINTSiPR01573. SUPERTUBBY.
PR01574. TUBBYPROTEIN.
SUPFAMiSSF54518. SSF54518. 1 hit.
PROSITEiPS01200. TUB_1. 1 hit.
PS01201. TUB_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTULP3_HUMAN
AccessioniPrimary (citable) accession number: O75386
Secondary accession number(s): B3KNB7
, B7Z6A2, D3DUQ4, F8WBZ9, Q8N5B0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: February 6, 2007
Last modified: November 30, 2016
This is version 128 of the entry and version 2 of the sequence. [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

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.