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O75386 (TULP3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 106. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Tubby-related protein 3
Alternative name(s):
Tubby-like protein 3
Gene names
Name:TULP3
Synonyms:TUBL3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length442 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.6 Ref.7

Subunit structure

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

Subcellular location

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. Ref.6 Ref.7

Tissue specificity

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

Sequence similarities

Belongs to the TUB family.

Ontologies

Keywords
   Cellular componentCell membrane
Cell projection
Cilium
Cytoplasm
Membrane
Nucleus
Secreted
   Coding sequence diversityAlternative splicing
   Molecular functionDevelopmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processG-protein coupled receptor signaling pathway

Non-traceable author statement Ref.6. Source: UniProtKB

multicellular organismal development

Inferred from electronic annotation. Source: UniProtKB-KW

negative regulation of smoothened signaling pathway

Inferred from direct assay Ref.7. Source: UniProtKB

regulation of G-protein coupled receptor protein signaling pathway

Inferred from direct assay Ref.7. Source: UniProtKB

regulation of transcription, DNA-templated

Non-traceable author statement Ref.6. Source: UniProtKB

   Cellular_componentcytoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

extracellular region

Inferred from electronic annotation. Source: UniProtKB-SubCell

nucleolus

Inferred from direct assay. Source: HPA

nucleus

Inferred from direct assay Ref.7. Source: UniProtKB

plasma membrane

Non-traceable author statement Ref.6. Source: UniProtKB

primary cilium

Inferred from direct assay Ref.7. Source: UniProtKB

   Molecular_functionenzyme binding

Inferred from physical interaction PubMed 23382074. Source: UniProt

phosphatidylinositol binding

Inferred from direct assay Ref.7. Source: UniProtKB

phosphatidylinositol-4,5-bisphosphate binding

Non-traceable author statement Ref.6. Source: UniProtKB

protein binding

Inferred from physical interaction PubMed 22190034PubMed 23414517. Source: IntAct

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

NEBP209292EBI-5357290,EBI-1049657
vprP125202EBI-5357290,EBI-6164519From a different organism.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O75386-1)

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.
Isoform 2 (identifier: O75386-2)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 442442Tubby-related protein 3
PRO_0000186470

Regions

Region23 – 6846Required for association with the IFT complex A (IFT-A)

Natural variations

Alternative sequence437 – 4426SKLACE → KCIQTLRMQELCELHRQHHS AASLVHRTVCQRWVGHPWRL LPQTSLLWTDLSPPPVVPAP HQISM in isoform 2.
VSP_054752

Experimental info

Mutagenesis24 – 3411RQAKLDYQRLL → AQAAADYAALA in mut12; abolishes association with the IFT complex A (IFT-A) without affecting phosphoinositide binding. Impaired localization to cilia. Ref.7
Mutagenesis268 – 2703KLR → ALA in TULP3KR; abolishes phosphoinositide binding and impairs localization to cilia. Still associates with the IFT complex A (IFT-A). Ref.7
Sequence conflict168 – 18114TSGSA…PADNL → IPVLLLPPNQLITF in AAC95431. Ref.1
Sequence conflict1871D → Y in AAH32587. Ref.5
Sequence conflict193 – 1942YS → LV in AAC95431. Ref.1
Sequence conflict219 – 2268PTYYMYLE → SHLLYVLG in AAC95431. Ref.1
Sequence conflict3931I → L in AAC95431. Ref.1
Sequence conflict429 – 4313GIG → AIS in AAC95431. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified February 6, 2007. Version 2.
Checksum: 13DBC83305BFAC1D

FASTA44249,642
        10         20         30         40         50         60 
MEASRCRLSP SGDSVFHEEM MKMRQAKLDY QRLLLEKRQR KKRLEPFMVQ PNPEARLRRA 

        70         80         90        100        110        120 
KPRASDEQTP LVNCHTPHSN VILHGIDGPA AVLKPDEVHA PSVSSSVVEE DAENTVDTAS 

       130        140        150        160        170        180 
KPGLQERLQK HDISESVNFD EETDGISQSA CLERPNSASS QNSTDTGTSG SATAAQPADN 

       190        200        210        220        230        240 
LLGDIDDLED FVYSPAPQGV TVRCRIIRDK RGMDRGLFPT YYMYLEKEEN QKIFLLAARK 

       250        260        270        280        290        300 
RKKSKTANYL ISIDPVDLSR EGESYVGKLR SNLMGTKFTV YDRGICPMKG RGLVGAAHTR 

       310        320        330        340        350        360 
QELAAISYET NVLGFKGPRK MSVIIPGMTL NHKQIPYQPQ NNHDSLLSRW QNRTMENLVE 

       370        380        390        400        410        420 
LHNKAPVWNS DTQSYVLNFR GRVTQASVKN FQIVHKNDPD YIVMQFGRVA DDVFTLDYNY 

       430        440 
PLCAVQAFGI GLSSFDSKLA CE 

« Hide

Isoform 2 [UniParc].

Checksum: 15F3B7C6A80F3ABA
Show »

FASTA50156,545

References

« Hide 'large scale' references
[1]"Molecular characterization of a novel tubby gene family member, TULP3, in mouse and humans."
Nishina P.M., North M.A., Ikeda A., Yan Y., Naggert J.K.
Genomics 54:215-220(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]"The finished DNA sequence of human chromosome 12."
Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. expand/collapse author list , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Eye.
[6]"G-protein signaling through tubby proteins."
Santagata S., Boggon T.J., Baird C.L., Gomez C.A., Zhao J., Shan W.S., Myszka D.G., Shapiro L.
Science 292:2041-2050(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION IN G-PROTEIN SIGNALING, SUBCELLULAR LOCATION.
[7]"TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia."
Mukhopadhyay S., Wen X., Chih B., Nelson C.D., Lane W.S., Scales S.J., Jackson P.K.
Genes Dev. 24:2180-2193(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, ASSOCIATION WITH THE IFT-A COMPLEX, MUTAGENESIS OF 24-ARG--LEU-34 AND 268-LYS--ARG-270.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF045583 mRNA. Translation: AAC95431.1.
AK024246 mRNA. Translation: BAG51279.1.
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.
CCDSCCDS8519.1.
RefSeqNP_001153880.1. NM_001160408.1. [O75386-2]
NP_003315.2. NM_003324.4. [O75386-1]
UniGeneHs.655333.

3D structure databases

ProteinModelPortalO75386.
SMRO75386. Positions 184-442.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid113140. 3 interactions.
IntActO75386. 56 interactions.
STRING9606.ENSP00000228245.

PTM databases

PhosphoSiteO75386.

Proteomic databases

MaxQBO75386.
PaxDbO75386.
PRIDEO75386.

Protocols and materials databases

DNASU7289.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000397132; ENSP00000380321; ENSG00000078246.
ENST00000448120; ENSP00000410051; ENSG00000078246.
GeneID7289.
KEGGhsa:7289.
UCSCuc010seh.1. human. [O75386-1]

Organism-specific databases

CTD7289.
GeneCardsGC12P002989.
HGNCHGNC:12425. TULP3.
HPAHPA015285.
HPA018496.
MIM604730. gene.
neXtProtNX_O75386.
PharmGKBPA37087.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG286778.
HOGENOMHOG000016044.
HOVERGENHBG018010.
InParanoidO75386.
OrthoDBEOG7P8PC5.
PhylomeDBO75386.

Gene expression databases

ArrayExpressO75386.
BgeeO75386.
CleanExHS_TULP3.
GenevestigatorO75386.

Family and domain databases

Gene3D3.20.90.10. 1 hit.
InterProIPR000007. Tubby_C.
IPR025659. Tubby_C-like.
IPR018066. Tubby_C_CS.
IPR005398. Tubby_N.
[Graphical view]
PfamPF01167. Tub. 1 hit.
[Graphical view]
PRINTSPR01573. SUPERTUBBY.
PR01574. TUBBYPROTEIN.
SUPFAMSSF54518. SSF54518. 1 hit.
PROSITEPS01200. TUB_1. 1 hit.
PS01201. TUB_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi7289.
NextBio28499.
PROO75386.
SOURCESearch...

Entry information

Entry nameTULP3_HUMAN
AccessionPrimary (citable) accession number: O75386
Secondary accession number(s): B3KNB7 expand/collapse secondary AC list , D3DUQ4, F8WBZ9, Q8N5B0
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: February 6, 2007
Last modified: July 9, 2014
This is version 106 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM