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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
  • phosphatidylinositol binding Source: GO_Central

GO - Biological processi

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
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 Expressed in 68 organ(s), highest expression level in pigmented layer of retina
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

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

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
OMAiMPLQDDT
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

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WT25A0A087WT25_HUMAN
Tubby-like protein
TULP1
540Annotation score:
Q5TGM7Q5TGM7_HUMAN
Tubby-related protein 1
TULP1
161Annotation score:

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 No translation available.
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

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 No translation available.
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

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

BioGridi113138, 2 interactors
IntActiO00294, 5 interactors
STRINGi9606.ENSP00000229771

PTM databases

iPTMnetiO00294
PhosphoSitePlusiO00294

Polymorphism and mutation databases

BioMutaiTULP1

Proteomic databases

PaxDbiO00294
PeptideAtlasiO00294
PRIDEiO00294
ProteomicsDBi47825
47826 [O00294-2]

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
EuPathDBiHostDB:ENSG00000112041.12
GeneCardsiTULP1
GeneReviewsiTULP1
H-InvDBiHIX0005807
HGNCiHGNC:12423 TULP1
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
OMAiMPLQDDT
OrthoDBiEOG091G04TF
PhylomeDBiO00294
TreeFamiTF314076

Miscellaneous databases

EvolutionaryTraceiO00294
GeneWikiiTULP1
GenomeRNAii7287
PROiPR:O00294
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000112041 Expressed in 68 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_TULP1
ExpressionAtlasiO00294 baseline and differential
GenevisibleiO00294 HS

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
ProtoNetiSearch...

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: November 7, 2018
This is version 157 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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