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O00294

- TULP1_HUMAN

UniProt

O00294 - TULP1_HUMAN

Protein

Tubby-related protein 1

Gene

TULP1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 131 (01 Oct 2014)
      Sequence version 3 (23 Sep 2008)
      Previous versions | rss
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    Functioni

    Required for normal development of photoreceptor synapses. Required for normal photoreceptor function and for long-term survival of photoreceptor cells. Interacts with cytoskeleton proteins and may play a role in protein transport in photoreceptor cells By similarity. Binds lipids, especially phosphatidylinositol 3-phosphate, phosphatidylinositol 4-phosphate, phosphatidylinositol 5-phosphate, phosphatidylinositol 3,4-bisphosphate, phosphatidylinositol 4,5-bisphosphate, phosphatidylinositol 3,4,5-bisphosphate, phosphatidylserine and phosphatidic acid (in vitro). Contribute to stimulation of phagocytosis of apoptotic retinal pigment epithelium (RPE) cells and macrophages.By similarity2 Publications

    GO - Molecular functioni

    1. actin filament binding Source: UniProtKB
    2. G-protein coupled photoreceptor activity Source: Ensembl
    3. phosphatidylinositol-4,5-bisphosphate binding Source: UniProtKB
    4. protein binding Source: IntAct

    GO - Biological processi

    1. dendrite development Source: UniProtKB
    2. detection of light stimulus involved in visual perception Source: UniProt
    3. eye photoreceptor cell development Source: UniProtKB
    4. phagocytosis Source: UniProtKB-KW
    5. photoreceptor cell maintenance Source: UniProtKB
    6. phototransduction Source: Ensembl
    7. positive regulation of phagocytosis Source: UniProtKB
    8. retina development in camera-type eye Source: Ensembl
    9. retina homeostasis Source: UniProt
    10. visual perception Source: ProtInc

    Keywords - Biological processi

    Phagocytosis, Sensory transduction, Vision

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Tubby-related protein 1
    Alternative name(s):
    Tubby-like protein 1
    Gene namesi
    Name:TULP1
    Synonyms:TUBL1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:12423. TULP1.

    Subcellular locationi

    Cytoplasm 1 Publication. Cell membrane 1 Publication; Peripheral membrane protein 1 Publication; Cytoplasmic side 1 Publication. Secreted By similarity. Cell junctionsynapse By similarity
    Note: Detected at synapses between photoreceptor cells and second-order neurons. Does not have a cleavable signal peptide and is secreted by an alternative pathway By similarity.By similarity

    GO - Cellular componenti

    1. cell junction Source: UniProtKB-KW
    2. cell projection Source: UniProtKB
    3. cytoplasm Source: UniProtKB-SubCell
    4. extracellular region Source: UniProtKB-SubCell
    5. photoreceptor inner segment Source: UniProtKB
    6. photoreceptor outer segment Source: UniProtKB
    7. plasma membrane Source: UniProtKB
    8. synapse Source: UniProtKB

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Cytoplasm, Membrane, Secreted, Synapse

    Pathology & Biotechi

    Involvement in diseasei

    Retinitis pigmentosa 14 (RP14) [MIM:600132]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti120 – 1278Missing in RP14.
    VAR_013310
    Natural varianti245 – 2451A → V in RP14.
    VAR_008275
    Natural varianti261 – 2611K → T in RP14.
    VAR_008277
    Natural varianti378 – 3781R → H in RP14.
    VAR_008278
    Natural varianti382 – 3821F → S in RP14. 1 Publication
    VAR_037584
    Natural varianti420 – 4201R → P in RP14; no effect on RPE phagocytosis. 1 Publication
    VAR_007941
    Natural varianti454 – 4541T → M in RP14.
    Corresponds to variant rs138200747 [ dbSNP | Ensembl ].
    VAR_008279
    Natural varianti459 – 4591I → K in RP14; no effect on RPE phagocytosis. 1 Publication
    Corresponds to variant rs121909075 [ dbSNP | Ensembl ].
    VAR_007942
    Natural varianti482 – 4821R → W in RP14. 1 Publication
    VAR_065502
    Natural varianti489 – 4891K → R in RP14; abolishes RPE phagocytosis. 1 Publication
    VAR_008280
    Natural varianti491 – 4911F → L in RP14; abolishes RPE phagocytosis. 1 Publication
    VAR_007943
    Natural varianti496 – 4961A → T in RP14; unknown pathological significance. 2 Publications
    Corresponds to variant rs141980901 [ dbSNP | Ensembl ].
    VAR_008281
    Leber congenital amaurosis 15 (LCA15) [MIM:613843]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti368 – 3681G → W in LCA15. 1 Publication
    VAR_065500
    Natural varianti400 – 4001R → W in LCA15. 1 Publication
    VAR_065501
    Natural varianti529 – 5291A → AFA in LCA15. 1 Publication
    VAR_065503

    Keywords - Diseasei

    Disease mutation, Leber congenital amaurosis, Retinitis pigmentosa

    Organism-specific databases

    MIMi600132. phenotype.
    613843. phenotype.
    Orphaneti65. Leber congenital amaurosis.
    791. Retinitis pigmentosa.
    PharmGKBiPA37085.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 542542Tubby-related protein 1PRO_0000186466Add
    BLAST

    Proteomic databases

    PaxDbiO00294.
    PRIDEiO00294.

    PTM databases

    PhosphoSiteiO00294.

    Expressioni

    Tissue specificityi

    Retina-specific.

    Gene expression databases

    ArrayExpressiO00294.
    BgeeiO00294.
    CleanExiHS_TULP1.
    GenevestigatoriO00294.

    Interactioni

    Subunit structurei

    Homodimer Probable. May interact with ABCF1, PSIP1, ZEB1 and HMGB2 Potential. Interacts with DNM1 By similarity. Interacts with F-actin. Interacts with TUB By similarity. Interacts with TYRO3 By similarity.By similarityCurated

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    NCK1P163332EBI-1756778,EBI-389883

    Protein-protein interaction databases

    IntActiO00294. 3 interactions.
    STRINGi9606.ENSP00000229771.

    Structurei

    Secondary structure

    1
    542
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi294 – 2963
    Beta strandi304 – 3118
    Beta strandi323 – 33210
    Beta strandi335 – 3417
    Beta strandi349 – 3546
    Beta strandi366 – 3727
    Beta strandi374 – 3829
    Beta strandi384 – 3863
    Helixi388 – 3903
    Helixi396 – 3983
    Beta strandi402 – 4087
    Beta strandi421 – 4266
    Helixi446 – 4527
    Beta strandi458 – 4636
    Beta strandi467 – 4693
    Turni470 – 4734
    Beta strandi474 – 4763
    Beta strandi491 – 4955
    Beta strandi503 – 5108
    Beta strandi513 – 5197
    Helixi524 – 53310

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2FIMX-ray1.90A/B290-542[»]
    3C5NX-ray1.80A/B291-536[»]
    ProteinModelPortaliO00294.
    SMRiO00294. Positions 291-536.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiO00294.

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi115 – 13117Poly-GluAdd
    BLAST
    Compositional biasi248 – 2547Poly-Glu

    Sequence similaritiesi

    Belongs to the TUB family.Curated

    Phylogenomic databases

    eggNOGiNOG286778.
    HOGENOMiHOG000016044.
    HOVERGENiHBG018010.
    InParanoidiO00294.
    OMAiEAPESPC.
    OrthoDBiEOG77HDDQ.
    PhylomeDBiO00294.
    TreeFamiTF314076.

    Family and domain databases

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

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O00294-1) [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

    MPLRDETLRE VWASDSGHEE ESLSPEAPRR PKQRPAPAQR LRKKRTEAPE    50
    SPCPTGSKPR KPGAGRTGRP REEPSPDPAQ ARAPQTVYAR FLRDPEAKKR 100
    DPRETFLVAR APDAEDEEEE EEEDEEDEEE EAEEKKEKIL LPPKKPLREK 150
    SSADLKERRA KAQGPRGDLG SPDPPPKPLR VRNKEAPAGE GTKMRKTKKK 200
    GSGEADKDPS GSPASARKSP AAMFLVGEGS PDKKALKKKG TPKGARKEEE 250
    EEEEAATVIK KSNQKGKAKG KGKKKAKEER APSPPVEVDE PREFVLRPAP 300
    QGRTVRCRLT RDKKGMDRGM YPSYFLHLDT EKKVFLLAGR KRKRSKTANY 350
    LISIDPTNLS RGGENFIGKL RSNLLGNRFT VFDNGQNPQR GYSTNVASLR 400
    QELAAVIYET NVLGFRGPRR MTVIIPGMSA ENERVPIRPR NASDGLLVRW 450
    QNKTLESLIE LHNKPPVWND DSGSYTLNFQ GRVTQASVKN FQIVHADDPD 500
    YIVLQFGRVA EDAFTLDYRY PLCALQAFAI ALSSFDGKLA CE 542
    Length:542
    Mass (Da):60,609
    Last modified:September 23, 2008 - v3
    Checksum:i65320103E2674B60
    GO
    Isoform 2 (identifier: O00294-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         64-116: Missing.

    Show »
    Length:489
    Mass (Da):54,667
    Checksum:iA687CD39AB3E8000
    GO

    Sequence cautioni

    The sequence CAI20251.1 differs from that shown. Reason: Erroneous gene model prediction.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti67 – 671T → R.2 Publications
    Corresponds to variant rs7764472 [ dbSNP | Ensembl ].
    VAR_008274
    Natural varianti120 – 1278Missing in RP14.
    VAR_013310
    Natural varianti245 – 2451A → V in RP14.
    VAR_008275
    Natural varianti259 – 2591I → T.1 Publication
    Corresponds to variant rs2064317 [ dbSNP | Ensembl ].
    VAR_008276
    Natural varianti261 – 2611K → N.4 Publications
    Corresponds to variant rs2064318 [ dbSNP | Ensembl ].
    VAR_034575
    Natural varianti261 – 2611K → T in RP14.
    VAR_008277
    Natural varianti368 – 3681G → W in LCA15. 1 Publication
    VAR_065500
    Natural varianti378 – 3781R → H in RP14.
    VAR_008278
    Natural varianti382 – 3821F → S in RP14. 1 Publication
    VAR_037584
    Natural varianti400 – 4001R → W in LCA15. 1 Publication
    VAR_065501
    Natural varianti420 – 4201R → P in RP14; no effect on RPE phagocytosis. 1 Publication
    VAR_007941
    Natural varianti454 – 4541T → M in RP14.
    Corresponds to variant rs138200747 [ dbSNP | Ensembl ].
    VAR_008279
    Natural varianti459 – 4591I → K in RP14; no effect on RPE phagocytosis. 1 Publication
    Corresponds to variant rs121909075 [ dbSNP | Ensembl ].
    VAR_007942
    Natural varianti482 – 4821R → W in RP14. 1 Publication
    VAR_065502
    Natural varianti489 – 4891K → R in RP14; abolishes RPE phagocytosis. 1 Publication
    VAR_008280
    Natural varianti491 – 4911F → L in RP14; abolishes RPE phagocytosis. 1 Publication
    VAR_007943
    Natural varianti496 – 4961A → T in RP14; unknown pathological significance. 2 Publications
    Corresponds to variant rs141980901 [ dbSNP | Ensembl ].
    VAR_008281
    Natural varianti529 – 5291A → AFA in LCA15. 1 Publication
    VAR_065503

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei64 – 11653Missing in isoform 2. 1 PublicationVSP_023031Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U82468 mRNA. Translation: AAB53700.1.
    AF034923
    , AF034919, AF034920, AF034921, AF034922 Genomic DNA. Translation: AAB97966.1.
    AL033519 Genomic DNA. Translation: CAI20251.1. Sequence problems.
    BC032714 mRNA. Translation: AAH32714.1.
    BC065261 mRNA. Translation: AAH65261.1.
    CCDSiCCDS4807.1. [O00294-1]
    RefSeqiNP_001276324.1. NM_001289395.1. [O00294-2]
    NP_003313.3. NM_003322.4. [O00294-1]
    UniGeneiHs.485208.

    Genome annotation databases

    EnsembliENST00000229771; ENSP00000229771; ENSG00000112041. [O00294-1]
    ENST00000322263; ENSP00000319414; ENSG00000112041. [O00294-2]
    GeneIDi7287.
    KEGGihsa:7287.
    UCSCiuc003okv.4. human. [O00294-1]
    uc003okw.4. human. [O00294-2]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Mutations of the TULP1 gene

    Retina International's Scientific Newsletter

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U82468 mRNA. Translation: AAB53700.1 .
    AF034923
    , AF034919 , AF034920 , AF034921 , AF034922 Genomic DNA. Translation: AAB97966.1 .
    AL033519 Genomic DNA. Translation: CAI20251.1 . Sequence problems.
    BC032714 mRNA. Translation: AAH32714.1 .
    BC065261 mRNA. Translation: AAH65261.1 .
    CCDSi CCDS4807.1. [O00294-1 ]
    RefSeqi NP_001276324.1. NM_001289395.1. [O00294-2 ]
    NP_003313.3. NM_003322.4. [O00294-1 ]
    UniGenei Hs.485208.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2FIM X-ray 1.90 A/B 290-542 [» ]
    3C5N X-ray 1.80 A/B 291-536 [» ]
    ProteinModelPortali O00294.
    SMRi O00294. Positions 291-536.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi O00294. 3 interactions.
    STRINGi 9606.ENSP00000229771.

    PTM databases

    PhosphoSitei O00294.

    Proteomic databases

    PaxDbi O00294.
    PRIDEi O00294.

    Protocols and materials databases

    DNASUi 7287.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000229771 ; ENSP00000229771 ; ENSG00000112041 . [O00294-1 ]
    ENST00000322263 ; ENSP00000319414 ; ENSG00000112041 . [O00294-2 ]
    GeneIDi 7287.
    KEGGi hsa:7287.
    UCSCi uc003okv.4. human. [O00294-1 ]
    uc003okw.4. human. [O00294-2 ]

    Organism-specific databases

    CTDi 7287.
    GeneCardsi GC06M035465.
    GeneReviewsi TULP1.
    H-InvDB HIX0005807.
    HGNCi HGNC:12423. TULP1.
    MIMi 600132. phenotype.
    602280. gene.
    613843. phenotype.
    neXtProti NX_O00294.
    Orphaneti 65. Leber congenital amaurosis.
    791. Retinitis pigmentosa.
    PharmGKBi PA37085.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG286778.
    HOGENOMi HOG000016044.
    HOVERGENi HBG018010.
    InParanoidi O00294.
    OMAi EAPESPC.
    OrthoDBi EOG77HDDQ.
    PhylomeDBi O00294.
    TreeFami TF314076.

    Miscellaneous databases

    EvolutionaryTracei O00294.
    GeneWikii TULP1.
    GenomeRNAii 7287.
    NextBioi 28491.
    PROi O00294.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O00294.
    Bgeei O00294.
    CleanExi HS_TULP1.
    Genevestigatori O00294.

    Family and domain databases

    Gene3Di 3.20.90.10. 1 hit.
    InterProi IPR000007. Tubby_C.
    IPR025659. Tubby_C-like.
    IPR018066. Tubby_C_CS.
    [Graphical view ]
    Pfami PF01167. Tub. 1 hit.
    [Graphical view ]
    PRINTSi PR01573. SUPERTUBBY.
    SUPFAMi SSF54518. SSF54518. 1 hit.
    PROSITEi PS01200. TUB_1. 1 hit.
    PS01201. TUB_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases."
      North M.A., Naggert J.K., Yan Y., Noben-Trauth K., Nishina P.M.
      Proc. Natl. Acad. Sci. U.S.A. 94:3128-3133(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS ARG-67 AND ASN-261.
      Tissue: Retina.
    2. "TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa."
      Banerjee P., Kleyn P.W., Knowles J.A., Lewis C.A., Ross B.M., Parano E., Kovats S.G., Lee J.J., Penchaszadeh G.K., Ott J., Jacobson S.G., Gilliam T.C.
      Nat. Genet. 18:177-179(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ARG-67 AND ASN-261.
    3. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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] (ISOFORM 2), VARIANT ASN-261.
      Tissue: Eye.
    5. "Tubby-like protein 1 (TULP1) interacts with F-actin in photoreceptor cells."
      Xi Q., Pauer G.J.T., Marmorstein A.D., Crabb J.W., Hagstrom S.A.
      Invest. Ophthalmol. Vis. Sci. 46:4754-4761(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH PHOSPHATIDYLINOSITOL PHOSPHOLIPIDS, SUBCELLULAR LOCATION, INTERACTION WITH F-ACTIN.
    6. "Identification of tubby and tubby-like protein 1 as eat-me signals by phage display."
      Caberoy N.B., Maiguel D., Kim Y., Li W.
      Exp. Cell Res. 316:245-257(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, CHARACTERIZATION OF VARIANTS RP14 PRO-420; LYS-459; ARG-489 AND LEU-491.
    7. "Structure of human TULP1 in complex with IP3."
      Structural genomics consortium (SGC)
      Submitted (FEB-2009) to the PDB data bank
      Cited for: X-RAY CRYSTALLOGRAPHY (1.8 ANGSTROMS) OF 291-536 IN COMPLEX WITH IP3.
    8. "Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa."
      Gu S., Lennon A., Li Y., Lorenz B., Fossarello M., North M., Gal A., Wright A.
      Lancet 351:1103-1104(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS RP14 120-GLU--ASP-127 DEL; ARG-489 AND THR-496.
    9. "Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa."
      Hagstrom S.A., North M.A., Nishina P.M., Berson E.L., Dryja T.P.
      Nat. Genet. 18:174-176(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS RP14 PRO-420; LYS-459 AND LEU-491.
    10. "Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis."
      Hanein S., Perrault I., Gerber S., Tanguy G., Barbet F., Ducroq D., Calvas P., Dollfus H., Hamel C., Lopponen T., Munier F., Santos L., Shalev S., Zafeiriou D., Dufier J.-L., Munnich A., Rozet J.-M., Kaplan J.
      Hum. Mutat. 23:306-317(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS LCA15 TRP-368 AND TRP-400.
    11. "A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers."
      Kondo H., Qin M., Mizota A., Kondo M., Hayashi H., Hayashi K., Oshima K., Tahira T., Hayashi K.
      Invest. Ophthalmol. Vis. Sci. 45:4433-4439(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT RP14 SER-382.
    12. "Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa."
      den Hollander A.I., van Lith-Verhoeven J.J., Arends M.L., Strom T.M., Cremers F.P., Hoyng C.B.
      Arch. Ophthalmol. 125:932-935(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT RP14 TRP-482.
    13. "Novel TULP1 mutation causing Leber congenital amaurosis or early onset retinal degeneration."
      Mataftsi A., Schorderet D.F., Chachoua L., Boussalah M., Nouri M.T., Barthelmes D., Borruat F.X., Munier F.L.
      Invest. Ophthalmol. Vis. Sci. 48:5160-5167(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LCA15 PHE-ALA-529 INS, VARIANTS THR-259; ASN-261 AND THR-496.

    Entry informationi

    Entry nameiTULP1_HUMAN
    AccessioniPrimary (citable) accession number: O00294
    Secondary accession number(s): O43536, Q5TGM5, Q8N571
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: September 23, 2008
    Last modified: October 1, 2014
    This is version 131 of the entry and version 3 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 6
      Human chromosome 6: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3