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UniProtKB - O00294 (TULP1_HUMAN)

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Protein

Tubby-related protein 1

Gene

TULP1

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

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

  • actin filament binding Source: UniProtKB
  • phosphatidylinositol-4,5-bisphosphate binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • dendrite development Source: UniProtKB
  • detection of light stimulus involved in visual perception Source: UniProtKB
  • eye photoreceptor cell development Source: UniProtKB
  • phagocytosis, recognition Source: Ensembl
  • photoreceptor cell maintenance Source: UniProtKB
  • positive regulation of phagocytosis Source: UniProtKB
  • protein localization to photoreceptor outer segment Source: GO_Central
  • receptor localization to non-motile cilium Source: GO_Central
  • retina development in camera-type eye Source: Ensembl
  • retina homeostasis Source: UniProtKB
  • visual perception Source: ProtInc
View the complete GO annotation on QuickGO ...

Keywordsi

Biological processPhagocytosis, 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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000112041.12
HGNCiHGNC:12423 TULP1
MIMi602280 gene
neXtProtiNX_O00294

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

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 14 (RP14)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:600132
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_013310120 – 127Missing in RP14. 1 Publication8
Natural variantiVAR_008275245A → V in RP14. Corresponds to variant dbSNP:rs62636707EnsemblClinVar.1
Natural variantiVAR_008277261K → T in RP14. 1
Natural variantiVAR_008278378R → H in RP14. Corresponds to variant dbSNP:rs148749577Ensembl.1
Natural variantiVAR_037584382F → S in RP14. 1 PublicationCorresponds to variant dbSNP:rs121909076EnsemblClinVar.1
Natural variantiVAR_007941420R → P in RP14; no effect on RPE phagocytosis. 2 PublicationsCorresponds to variant dbSNP:rs121909073EnsemblClinVar.1
Natural variantiVAR_008279454T → M in RP14. Corresponds to variant dbSNP:rs138200747Ensembl.1
Natural variantiVAR_007942459I → K in RP14; no effect on RPE phagocytosis. 2 PublicationsCorresponds to variant dbSNP:rs121909075EnsemblClinVar.1
Natural variantiVAR_065502482R → W in RP14. 1 PublicationCorresponds to variant dbSNP:rs121909077EnsemblClinVar.1
Natural variantiVAR_008280489K → R in RP14; abolishes RPE phagocytosis. 2 PublicationsCorresponds to variant dbSNP:rs62636511EnsemblClinVar.1
Natural variantiVAR_007943491F → L in RP14; abolishes RPE phagocytosis. 2 PublicationsCorresponds to variant dbSNP:rs121909074EnsemblClinVar.1
Natural variantiVAR_008281496A → T in RP14; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs141980901EnsemblClinVar.1
Leber congenital amaurosis 15 (LCA15)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613843
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065500368G → W in LCA15. 1 PublicationCorresponds to variant dbSNP:rs387906837EnsemblClinVar.1
Natural variantiVAR_065501400R → W in LCA15. 1 PublicationCorresponds to variant dbSNP:rs387906836EnsemblClinVar.1
Natural variantiVAR_065503529A → AFA in LCA15. 1 Publication1

Keywords - Diseasei

Disease mutation, Leber congenital amaurosis, Retinitis pigmentosa

Organism-specific databases

DisGeNETi7287
GeneReviewsiTULP1
MalaCardsiTULP1
MIMi600132 phenotype
613843 phenotype
OpenTargetsiENSG00000112041
Orphaneti65 Leber congenital amaurosis
791 Retinitis pigmentosa
PharmGKBiPA37085

Polymorphism and mutation databases

BioMutaiTULP1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001864661 – 542Tubby-related protein 1Add BLAST542

Proteomic databases

PaxDbiO00294
PeptideAtlasiO00294
PRIDEiO00294
ProteomicsDBi47825
47826 [O00294-2]

PTM databases

iPTMnetiO00294
PhosphoSitePlusiO00294

Expressioni

Tissue specificityi

Retina-specific.

Gene expression databases

BgeeiENSG00000112041
CleanExiHS_TULP1
ExpressionAtlasiO00294 baseline and differential
GenevisibleiO00294 HS

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

GO - Molecular functioni

  • actin filament binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi113138, 2 interactors
IntActiO00294, 5 interactors
STRINGi9606.ENSP00000229771

Structurei

Secondary structure

1542
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi294 – 296Combined sources3
Beta strandi304 – 311Combined sources8
Beta strandi323 – 332Combined sources10
Beta strandi335 – 341Combined sources7
Beta strandi349 – 354Combined sources6
Beta strandi366 – 372Combined sources7
Beta strandi374 – 382Combined sources9
Beta strandi384 – 386Combined sources3
Helixi388 – 390Combined sources3
Helixi396 – 398Combined sources3
Beta strandi402 – 408Combined sources7
Beta strandi414 – 416Combined sources3
Beta strandi421 – 426Combined sources6
Helixi446 – 452Combined sources7
Beta strandi458 – 463Combined sources6
Beta strandi467 – 469Combined sources3
Turni470 – 473Combined sources4
Beta strandi474 – 476Combined sources3
Beta strandi491 – 495Combined sources5
Beta strandi503 – 510Combined sources8
Beta strandi513 – 519Combined sources7
Helixi524 – 533Combined sources10

3D structure databases

ProteinModelPortaliO00294
SMRiO00294
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO00294

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi115 – 131Poly-GluAdd BLAST17
Compositional biasi248 – 254Poly-Glu7

Sequence similaritiesi

Belongs to the TUB family.Curated

Phylogenomic databases

eggNOGiKOG2502 Eukaryota
ENOG410XQFT LUCA
GeneTreeiENSGT00610000085970
HOGENOMiHOG000016044
HOVERGENiHBG018010
InParanoidiO00294
KOiK19600
OMAiEAPESPC
OrthoDBiEOG091G04TF
PhylomeDBiO00294
TreeFamiTF314076

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
PfamiView protein in Pfam
PF01167 Tub, 1 hit
PRINTSiPR01573 SUPERTUBBY
SUPFAMiSSF54518 SSF54518, 1 hit
PROSITEiView protein in PROSITE
PS01200 TUB_1, 1 hit
PS01201 TUB_2, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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

        10         20         30         40         50
MPLRDETLRE VWASDSGHEE ESLSPEAPRR PKQRPAPAQR LRKKRTEAPE 
        60         70         80         90        100
SPCPTGSKPR KPGAGRTGRP REEPSPDPAQ ARAPQTVYAR FLRDPEAKKR 
       110        120        130        140        150
DPRETFLVAR APDAEDEEEE EEEDEEDEEE EAEEKKEKIL LPPKKPLREK 
       160        170        180        190        200
SSADLKERRA KAQGPRGDLG SPDPPPKPLR VRNKEAPAGE GTKMRKTKKK 
       210        220        230        240        250
GSGEADKDPS GSPASARKSP AAMFLVGEGS PDKKALKKKG TPKGARKEEE 
       260        270        280        290        300
EEEEAATVIK KSNQKGKAKG KGKKKAKEER APSPPVEVDE PREFVLRPAP 
       310        320        330        340        350
QGRTVRCRLT RDKKGMDRGM YPSYFLHLDT EKKVFLLAGR KRKRSKTANY 
       360        370        380        390        400
LISIDPTNLS RGGENFIGKL RSNLLGNRFT VFDNGQNPQR GYSTNVASLR 
       410        420        430        440        450
QELAAVIYET NVLGFRGPRR MTVIIPGMSA ENERVPIRPR NASDGLLVRW 
       460        470        480        490        500
QNKTLESLIE LHNKPPVWND DSGSYTLNFQ GRVTQASVKN FQIVHADDPD 
       510        520        530        540 
YIVLQFGRVA EDAFTLDYRY PLCALQAFAI ALSSFDGKLA CE
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 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00827467T → R2 PublicationsCorresponds to variant dbSNP:rs7764472EnsemblClinVar.1
Natural variantiVAR_013310120 – 127Missing in RP14. 1 Publication8
Natural variantiVAR_008275245A → V in RP14. Corresponds to variant dbSNP:rs62636707EnsemblClinVar.1
Natural variantiVAR_008276259I → T1 PublicationCorresponds to variant dbSNP:rs2064317EnsemblClinVar.1
Natural variantiVAR_034575261K → N4 PublicationsCorresponds to variant dbSNP:rs2064318EnsemblClinVar.1
Natural variantiVAR_008277261K → T in RP14. 1
Natural variantiVAR_065500368G → W in LCA15. 1 PublicationCorresponds to variant dbSNP:rs387906837EnsemblClinVar.1
Natural variantiVAR_008278378R → H in RP14. Corresponds to variant dbSNP:rs148749577Ensembl.1
Natural variantiVAR_037584382F → S in RP14. 1 PublicationCorresponds to variant dbSNP:rs121909076EnsemblClinVar.1
Natural variantiVAR_065501400R → W in LCA15. 1 PublicationCorresponds to variant dbSNP:rs387906836EnsemblClinVar.1
Natural variantiVAR_007941420R → P in RP14; no effect on RPE phagocytosis. 2 PublicationsCorresponds to variant dbSNP:rs121909073EnsemblClinVar.1
Natural variantiVAR_008279454T → M in RP14. Corresponds to variant dbSNP:rs138200747Ensembl.1
Natural variantiVAR_007942459I → K in RP14; no effect on RPE phagocytosis. 2 PublicationsCorresponds to variant dbSNP:rs121909075EnsemblClinVar.1
Natural variantiVAR_065502482R → W in RP14. 1 PublicationCorresponds to variant dbSNP:rs121909077EnsemblClinVar.1
Natural variantiVAR_008280489K → R in RP14; abolishes RPE phagocytosis. 2 PublicationsCorresponds to variant dbSNP:rs62636511EnsemblClinVar.1
Natural variantiVAR_007943491F → L in RP14; abolishes RPE phagocytosis. 2 PublicationsCorresponds to variant dbSNP:rs121909074EnsemblClinVar.1
Natural variantiVAR_008281496A → T in RP14; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs141980901EnsemblClinVar.1
Natural variantiVAR_065503529A → AFA in LCA15. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_02303164 – 116Missing in isoform 2. 1 PublicationAdd BLAST53

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
CCDS75436.1 [O00294-2]
RefSeqiNP_001276324.1, NM_001289395.1 [O00294-2]
NP_003313.3, NM_003322.5 [O00294-1]
UniGeneiHs.485208

Genome annotation databases

EnsembliENST00000229771; ENSP00000229771; ENSG00000112041 [O00294-1]
ENST00000322263; ENSP00000319414; ENSG00000112041 [O00294-2]
GeneIDi7287
KEGGihsa:7287
UCSCiuc003okv.6 human [O00294-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTULP1_HUMAN
AccessioniPrimary (citable) accession number: O00294
Secondary accession number(s): O43536, Q5TGM5, Q8N571
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: September 23, 2008
Last modified: June 20, 2018
This is version 155 of the entry and version 3 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

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

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