Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Tubby-related protein 1

Gene

TULP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

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
Complete GO annotation...

Keywords - Biological processi

Phagocytosis, Sensory transduction, Vision

Enzyme and pathway databases

BioCyciZFISH:ENSG00000112041-MONOMER.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:12423. TULP1.

Subcellular locationi

GO - Cellular componenti

  • axon terminus Source: Ensembl
  • cell junction Source: UniProtKB-KW
  • cell projection Source: UniProtKB
  • cilium Source: GO_Central
  • cytosol Source: Ensembl
  • extracellular region Source: UniProtKB-SubCell
  • photoreceptor inner segment Source: UniProtKB
  • photoreceptor outer segment Source: UniProtKB
  • plasma membrane Source: UniProtKB
  • synapse Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 14 (RP14)4 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 rs62636707dbSNPEnsembl.1
Natural variantiVAR_008277261K → T in RP14. 1
Natural variantiVAR_008278378R → H in RP14. Corresponds to variant rs148749577dbSNPEnsembl.1
Natural variantiVAR_037584382F → S in RP14. 1 PublicationCorresponds to variant rs121909076dbSNPEnsembl.1
Natural variantiVAR_007941420R → P in RP14; no effect on RPE phagocytosis. 2 PublicationsCorresponds to variant rs121909073dbSNPEnsembl.1
Natural variantiVAR_008279454T → M in RP14. Corresponds to variant rs138200747dbSNPEnsembl.1
Natural variantiVAR_007942459I → K in RP14; no effect on RPE phagocytosis. 2 PublicationsCorresponds to variant rs121909075dbSNPEnsembl.1
Natural variantiVAR_065502482R → W in RP14. 1 PublicationCorresponds to variant rs121909077dbSNPEnsembl.1
Natural variantiVAR_008280489K → R in RP14; abolishes RPE phagocytosis. 2 PublicationsCorresponds to variant rs62636511dbSNPEnsembl.1
Natural variantiVAR_007943491F → L in RP14; abolishes RPE phagocytosis. 2 PublicationsCorresponds to variant rs121909074dbSNPEnsembl.1
Natural variantiVAR_008281496A → T in RP14; unknown pathological significance. 2 PublicationsCorresponds to variant rs141980901dbSNPEnsembl.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 rs387906837dbSNPEnsembl.1
Natural variantiVAR_065501400R → W in LCA15. 1 PublicationCorresponds to variant rs387906836dbSNPEnsembl.1
Natural variantiVAR_065503529A → AFA in LCA15. 1 Publication1

Keywords - Diseasei

Disease mutation, Leber congenital amaurosis, Retinitis pigmentosa

Organism-specific databases

DisGeNETi7287.
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.

PTM databases

iPTMnetiO00294.
PhosphoSitePlusiO00294.

Expressioni

Tissue specificityi

Retina-specific.

Gene expression databases

BgeeiENSG00000112041.
CleanExiHS_TULP1.
ExpressionAtlasiO00294. baseline and differential.
GenevisibleiO00294. HS.

Organism-specific databases

HPAiCAB070416.

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

Protein-protein interaction databases

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

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2FIMX-ray1.90A/B290-542[»]
3C5NX-ray1.80A/B291-536[»]
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.
InterProiIPR000007. Tubby_C.
IPR025659. Tubby_C-like.
IPR018066. Tubby_C_CS.
IPR033018. TULP1.
[Graphical view]
PANTHERiPTHR16517:SF12. PTHR16517:SF12. 1 hit.
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. 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 → R.2 PublicationsCorresponds to variant rs7764472dbSNPEnsembl.1
Natural variantiVAR_013310120 – 127Missing in RP14. 1 Publication8
Natural variantiVAR_008275245A → V in RP14. Corresponds to variant rs62636707dbSNPEnsembl.1
Natural variantiVAR_008276259I → T.1 PublicationCorresponds to variant rs2064317dbSNPEnsembl.1
Natural variantiVAR_034575261K → N.4 PublicationsCorresponds to variant rs2064318dbSNPEnsembl.1
Natural variantiVAR_008277261K → T in RP14. 1
Natural variantiVAR_065500368G → W in LCA15. 1 PublicationCorresponds to variant rs387906837dbSNPEnsembl.1
Natural variantiVAR_008278378R → H in RP14. Corresponds to variant rs148749577dbSNPEnsembl.1
Natural variantiVAR_037584382F → S in RP14. 1 PublicationCorresponds to variant rs121909076dbSNPEnsembl.1
Natural variantiVAR_065501400R → W in LCA15. 1 PublicationCorresponds to variant rs387906836dbSNPEnsembl.1
Natural variantiVAR_007941420R → P in RP14; no effect on RPE phagocytosis. 2 PublicationsCorresponds to variant rs121909073dbSNPEnsembl.1
Natural variantiVAR_008279454T → M in RP14. Corresponds to variant rs138200747dbSNPEnsembl.1
Natural variantiVAR_007942459I → K in RP14; no effect on RPE phagocytosis. 2 PublicationsCorresponds to variant rs121909075dbSNPEnsembl.1
Natural variantiVAR_065502482R → W in RP14. 1 PublicationCorresponds to variant rs121909077dbSNPEnsembl.1
Natural variantiVAR_008280489K → R in RP14; abolishes RPE phagocytosis. 2 PublicationsCorresponds to variant rs62636511dbSNPEnsembl.1
Natural variantiVAR_007943491F → L in RP14; abolishes RPE phagocytosis. 2 PublicationsCorresponds to variant rs121909074dbSNPEnsembl.1
Natural variantiVAR_008281496A → T in RP14; unknown pathological significance. 2 PublicationsCorresponds to variant rs141980901dbSNPEnsembl.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_003322.4. [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

Cross-referencesi

Web resourcesi

Mutations of the TULP1 gene

Retina International's Scientific Newsletter

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_003322.4. [O00294-1]
UniGeneiHs.485208.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2FIMX-ray1.90A/B290-542[»]
3C5NX-ray1.80A/B291-536[»]
ProteinModelPortaliO00294.
SMRiO00294.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiO00294. 5 interactors.
STRINGi9606.ENSP00000229771.

PTM databases

iPTMnetiO00294.
PhosphoSitePlusiO00294.

Polymorphism and mutation databases

BioMutaiTULP1.

Proteomic databases

PaxDbiO00294.
PeptideAtlasiO00294.
PRIDEiO00294.

Protocols and materials databases

DNASUi7287.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi7287.
DisGeNETi7287.
GeneCardsiTULP1.
GeneReviewsiTULP1.
H-InvDBHIX0005807.
HGNCiHGNC:12423. TULP1.
HPAiCAB070416.
MalaCardsiTULP1.
MIMi600132. phenotype.
602280. gene.
613843. phenotype.
neXtProtiNX_O00294.
OpenTargetsiENSG00000112041.
Orphaneti65. Leber congenital amaurosis.
791. Retinitis pigmentosa.
PharmGKBiPA37085.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000112041-MONOMER.

Miscellaneous databases

EvolutionaryTraceiO00294.
GeneWikiiTULP1.
GenomeRNAii7287.
PROiO00294.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000112041.
CleanExiHS_TULP1.
ExpressionAtlasiO00294. baseline and differential.
GenevisibleiO00294. HS.

Family and domain databases

Gene3Di3.20.90.10. 1 hit.
InterProiIPR000007. Tubby_C.
IPR025659. Tubby_C-like.
IPR018066. Tubby_C_CS.
IPR033018. TULP1.
[Graphical view]
PANTHERiPTHR16517:SF12. PTHR16517:SF12. 1 hit.
PfamiPF01167. Tub. 1 hit.
[Graphical view]
PRINTSiPR01573. SUPERTUBBY.
SUPFAMiSSF54518. SSF54518. 1 hit.
PROSITEiPS01200. TUB_1. 1 hit.
PS01201. TUB_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

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: November 30, 2016
This is version 149 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

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.