UniProtKB - O00294 (TULP1_HUMAN)
Tubby-related protein 1
TULP1
Functioni
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 cilium Source: GO_Central
- protein localization to photoreceptor outer segment Source: Ensembl
- retina development in camera-type eye Source: Ensembl
- retina homeostasis Source: UniProtKB
- visual perception Source: ProtInc
Keywordsi
Biological process | Phagocytosis, Sensory transduction, Vision |
Enzyme and pathway databases
PathwayCommonsi | O00294 |
Names & Taxonomyi
Protein namesi | Recommended name: Tubby-related protein 1Alternative name(s): Tubby-like protein 1 |
Gene namesi | Name:TULP1 Synonyms:TUBL1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:12423, TULP1 |
MIMi | 602280, gene |
neXtProti | NX_O00294 |
VEuPathDBi | HostDB:ENSG00000112041.12 |
Subcellular locationi
Plasma membrane
- Cell membrane 1 Publication; Peripheral membrane protein 1 Publication; Cytoplasmic side 1 Publication
Extracellular region or secreted
- Secreted By similarity
Other locations
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
Cytosol
- cytosol Source: Ensembl
Extracellular region or secreted
- extracellular region Source: UniProtKB-SubCell
Plasma Membrane
- plasma membrane Source: UniProtKB
Other locations
- axon terminus Source: Ensembl
- cell projection Source: UniProtKB
- cilium Source: GO_Central
- photoreceptor inner segment Source: UniProtKB
- photoreceptor outer segment Source: UniProtKB
- synapse Source: UniProtKB
Keywords - Cellular componenti
Cell junction, Cell membrane, Cytoplasm, Membrane, Secreted, SynapsePathology & Biotechi
Involvement in diseasei
Retinitis pigmentosa 14 (RP14)5 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_013310 | 120 – 127 | Missing in RP14. 1 Publication | 8 | |
Natural variantiVAR_008275 | 245 | A → V in RP14. Corresponds to variant dbSNP:rs62636707EnsemblClinVar. | 1 | |
Natural variantiVAR_008277 | 261 | K → T in RP14. | 1 | |
Natural variantiVAR_008278 | 378 | R → H in RP14. Corresponds to variant dbSNP:rs148749577Ensembl. | 1 | |
Natural variantiVAR_037584 | 382 | F → S in RP14. 1 PublicationCorresponds to variant dbSNP:rs121909076EnsemblClinVar. | 1 | |
Natural variantiVAR_007941 | 420 | R → P in RP14; no effect on RPE phagocytosis. 2 PublicationsCorresponds to variant dbSNP:rs121909073EnsemblClinVar. | 1 | |
Natural variantiVAR_008279 | 454 | T → M in RP14. Corresponds to variant dbSNP:rs138200747Ensembl. | 1 | |
Natural variantiVAR_007942 | 459 | I → K in RP14; no effect on RPE phagocytosis. 2 PublicationsCorresponds to variant dbSNP:rs121909075EnsemblClinVar. | 1 | |
Natural variantiVAR_065502 | 482 | R → W in RP14. 1 PublicationCorresponds to variant dbSNP:rs121909077EnsemblClinVar. | 1 | |
Natural variantiVAR_008280 | 489 | K → R in RP14; abolishes RPE phagocytosis. 2 PublicationsCorresponds to variant dbSNP:rs62636511EnsemblClinVar. | 1 | |
Natural variantiVAR_007943 | 491 | F → L in RP14; abolishes RPE phagocytosis. 2 PublicationsCorresponds to variant dbSNP:rs121909074EnsemblClinVar. | 1 | |
Natural variantiVAR_008281 | 496 | A → T in RP14; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs141980901EnsemblClinVar. | 1 |
Leber congenital amaurosis 15 (LCA15)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_065500 | 368 | G → W in LCA15. 1 PublicationCorresponds to variant dbSNP:rs387906837EnsemblClinVar. | 1 | |
Natural variantiVAR_065501 | 400 | R → W in LCA15. 1 PublicationCorresponds to variant dbSNP:rs387906836EnsemblClinVar. | 1 | |
Natural variantiVAR_065503 | 529 | A → AFA in LCA15. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Leber congenital amaurosis, Retinitis pigmentosaOrganism-specific databases
DisGeNETi | 7287 |
GeneReviewsi | TULP1 |
MalaCardsi | TULP1 |
MIMi | 600132, phenotype 613843, phenotype |
OpenTargetsi | ENSG00000112041 |
Orphaneti | 65, Leber congenital amaurosis 791, Retinitis pigmentosa |
PharmGKBi | PA37085 |
Miscellaneous databases
Pharosi | O00294, Tbio |
Genetic variation databases
BioMutai | TULP1 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000186466 | 1 – 542 | Tubby-related protein 1Add BLAST | 542 |
Proteomic databases
MassIVEi | O00294 |
PaxDbi | O00294 |
PeptideAtlasi | O00294 |
PRIDEi | O00294 |
ProteomicsDBi | 47825 [O00294-1] 47826 [O00294-2] |
PTM databases
iPTMneti | O00294 |
PhosphoSitePlusi | O00294 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000112041, Expressed in pigmented layer of retina and 88 other tissues |
ExpressionAtlasi | O00294, baseline and differential |
Genevisiblei | O00294, HS |
Organism-specific databases
HPAi | ENSG00000112041, Tissue enriched (retina) |
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 similarityCuratedBinary interactionsi
O00294
With | #Exp. | IntAct |
---|---|---|
NCK1 [P16333] | 2 | EBI-1756778,EBI-389883 |
GO - Molecular functioni
- actin filament binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 113138, 2 interactors |
IntActi | O00294, 5 interactors |
STRINGi | 9606.ENSP00000229771 |
Miscellaneous databases
RNActi | O00294, protein |
Structurei
Secondary structure
3D structure databases
SMRi | O00294 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | O00294 |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 115 – 131 | Poly-GluAdd BLAST | 17 | |
Compositional biasi | 248 – 254 | Poly-Glu | 7 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG2502, Eukaryota |
GeneTreei | ENSGT00940000158771 |
HOGENOMi | CLU_028236_5_1_1 |
InParanoidi | O00294 |
OMAi | KIPAAMF |
PhylomeDBi | O00294 |
TreeFami | TF314076 |
Family and domain databases
Gene3Di | 3.20.90.10, 1 hit |
InterProi | View protein in InterPro IPR025659, Tubby-like_C IPR000007, Tubby_C IPR018066, Tubby_C_CS |
Pfami | View protein in Pfam PF01167, Tub, 1 hit |
PRINTSi | PR01573, SUPERTUBBY |
SUPFAMi | SSF54518, SSF54518, 1 hit |
PROSITEi | View protein in PROSITE PS01200, TUB_1, 1 hit PS01201, TUB_2, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A087WT25 | A0A087WT25_HUMAN | Tubby-like protein | TULP1 | 540 | Annotation score: | ||
Q5TGM7 | Q5TGM7_HUMAN | Tubby-related protein 1 | TULP1 | 161 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_008274 | 67 | T → R2 PublicationsCorresponds to variant dbSNP:rs7764472EnsemblClinVar. | 1 | |
Natural variantiVAR_013310 | 120 – 127 | Missing in RP14. 1 Publication | 8 | |
Natural variantiVAR_008275 | 245 | A → V in RP14. Corresponds to variant dbSNP:rs62636707EnsemblClinVar. | 1 | |
Natural variantiVAR_008276 | 259 | I → T1 PublicationCorresponds to variant dbSNP:rs2064317EnsemblClinVar. | 1 | |
Natural variantiVAR_034575 | 261 | K → N4 PublicationsCorresponds to variant dbSNP:rs2064318EnsemblClinVar. | 1 | |
Natural variantiVAR_008277 | 261 | K → T in RP14. | 1 | |
Natural variantiVAR_065500 | 368 | G → W in LCA15. 1 PublicationCorresponds to variant dbSNP:rs387906837EnsemblClinVar. | 1 | |
Natural variantiVAR_008278 | 378 | R → H in RP14. Corresponds to variant dbSNP:rs148749577Ensembl. | 1 | |
Natural variantiVAR_037584 | 382 | F → S in RP14. 1 PublicationCorresponds to variant dbSNP:rs121909076EnsemblClinVar. | 1 | |
Natural variantiVAR_065501 | 400 | R → W in LCA15. 1 PublicationCorresponds to variant dbSNP:rs387906836EnsemblClinVar. | 1 | |
Natural variantiVAR_007941 | 420 | R → P in RP14; no effect on RPE phagocytosis. 2 PublicationsCorresponds to variant dbSNP:rs121909073EnsemblClinVar. | 1 | |
Natural variantiVAR_008279 | 454 | T → M in RP14. Corresponds to variant dbSNP:rs138200747Ensembl. | 1 | |
Natural variantiVAR_007942 | 459 | I → K in RP14; no effect on RPE phagocytosis. 2 PublicationsCorresponds to variant dbSNP:rs121909075EnsemblClinVar. | 1 | |
Natural variantiVAR_065502 | 482 | R → W in RP14. 1 PublicationCorresponds to variant dbSNP:rs121909077EnsemblClinVar. | 1 | |
Natural variantiVAR_008280 | 489 | K → R in RP14; abolishes RPE phagocytosis. 2 PublicationsCorresponds to variant dbSNP:rs62636511EnsemblClinVar. | 1 | |
Natural variantiVAR_007943 | 491 | F → L in RP14; abolishes RPE phagocytosis. 2 PublicationsCorresponds to variant dbSNP:rs121909074EnsemblClinVar. | 1 | |
Natural variantiVAR_008281 | 496 | A → T in RP14; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs141980901EnsemblClinVar. | 1 | |
Natural variantiVAR_065503 | 529 | A → AFA in LCA15. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_023031 | 64 – 116 | Missing in isoform 2. 1 PublicationAdd BLAST | 53 |
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 |
CCDSi | CCDS4807.1 [O00294-1] CCDS75436.1 [O00294-2] |
RefSeqi | NP_001276324.1, NM_001289395.1 [O00294-2] NP_003313.3, NM_003322.5 [O00294-1] |
Genome annotation databases
Ensembli | ENST00000229771; ENSP00000229771; ENSG00000112041 [O00294-1] ENST00000322263; ENSP00000319414; ENSG00000112041 [O00294-2] |
GeneIDi | 7287 |
KEGGi | hsa:7287 |
UCSCi | uc003okv.6, human [O00294-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar 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 |
CCDSi | CCDS4807.1 [O00294-1] CCDS75436.1 [O00294-2] |
RefSeqi | NP_001276324.1, NM_001289395.1 [O00294-2] NP_003313.3, NM_003322.5 [O00294-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB 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 | [»] | |
SMRi | O00294 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 113138, 2 interactors |
IntActi | O00294, 5 interactors |
STRINGi | 9606.ENSP00000229771 |
PTM databases
iPTMneti | O00294 |
PhosphoSitePlusi | O00294 |
Genetic variation databases
BioMutai | TULP1 |
Proteomic databases
MassIVEi | O00294 |
PaxDbi | O00294 |
PeptideAtlasi | O00294 |
PRIDEi | O00294 |
ProteomicsDBi | 47825 [O00294-1] 47826 [O00294-2] |
Protocols and materials databases
Antibodypediai | 45745, 93 antibodies |
DNASUi | 7287 |
Genome annotation databases
Ensembli | ENST00000229771; ENSP00000229771; ENSG00000112041 [O00294-1] ENST00000322263; ENSP00000319414; ENSG00000112041 [O00294-2] |
GeneIDi | 7287 |
KEGGi | hsa:7287 |
UCSCi | uc003okv.6, human [O00294-1] |
Organism-specific databases
CTDi | 7287 |
DisGeNETi | 7287 |
GeneCardsi | TULP1 |
GeneReviewsi | TULP1 |
HGNCi | HGNC:12423, TULP1 |
HPAi | ENSG00000112041, Tissue enriched (retina) |
MalaCardsi | TULP1 |
MIMi | 600132, phenotype 602280, gene 613843, phenotype |
neXtProti | NX_O00294 |
OpenTargetsi | ENSG00000112041 |
Orphaneti | 65, Leber congenital amaurosis 791, Retinitis pigmentosa |
PharmGKBi | PA37085 |
VEuPathDBi | HostDB:ENSG00000112041.12 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2502, Eukaryota |
GeneTreei | ENSGT00940000158771 |
HOGENOMi | CLU_028236_5_1_1 |
InParanoidi | O00294 |
OMAi | KIPAAMF |
PhylomeDBi | O00294 |
TreeFami | TF314076 |
Enzyme and pathway databases
PathwayCommonsi | O00294 |
Miscellaneous databases
BioGRID-ORCSi | 7287, 37 hits in 895 CRISPR screens |
EvolutionaryTracei | O00294 |
GeneWikii | TULP1 |
GenomeRNAii | 7287 |
Pharosi | O00294, Tbio |
PROi | PR:O00294 |
RNActi | O00294, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000112041, Expressed in pigmented layer of retina and 88 other tissues |
ExpressionAtlasi | O00294, baseline and differential |
Genevisiblei | O00294, HS |
Family and domain databases
Gene3Di | 3.20.90.10, 1 hit |
InterProi | View protein in InterPro IPR025659, Tubby-like_C IPR000007, Tubby_C IPR018066, Tubby_C_CS |
Pfami | View protein in Pfam PF01167, Tub, 1 hit |
PRINTSi | PR01573, SUPERTUBBY |
SUPFAMi | SSF54518, SSF54518, 1 hit |
PROSITEi | View protein in PROSITE PS01200, TUB_1, 1 hit PS01201, TUB_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | TULP1_HUMAN | |
Accessioni | O00294Primary (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: | February 10, 2021 | |
This is version 172 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Reference proteomeDocuments
- Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families