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UniProtKB - O00294 (TULP1_HUMAN)

Entry version 171 (02 Dec 2020)
Sequence version 3 (23 Sep 2008)
Previous versions | rss
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Protein

Tubby-related protein 1

Gene

TULP1

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processPhagocytosis, Sensory transduction, Vision

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O00294

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Tubby-related protein 1
Alternative name(s):
Tubby-like protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TULP1
Synonyms:TUBL1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000112041.12

Human Gene Nomenclature Database

More...HGNCi		HGNC:12423, TULP1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		602280, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O00294

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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.
Related information in OMIM
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

DisGeNET

More...DisGeNETi		7287

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		TULP1

MalaCards human disease database

More...MalaCardsi		TULP1
MIMi600132, phenotype
613843, phenotype

Open Targets

More...OpenTargetsi		ENSG00000112041

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		65, Leber congenital amaurosis
791, Retinitis pigmentosa

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA37085

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O00294, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		TULP1

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001864661 – 542Tubby-related protein 1Add BLAST542

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O00294

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		O00294

PeptideAtlas

More...PeptideAtlasi		O00294

PRoteomics IDEntifications database

More...PRIDEi		O00294

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		47825 [O00294-1]
47826 [O00294-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O00294

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		O00294

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Retina-specific.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000112041, Expressed in pigmented layer of retina and 88 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O00294, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O00294, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000112041, Tissue enriched (retina)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		113138, 2 interactors

Protein interaction database and analysis system

More...IntActi		O00294, 5 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000229771

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O00294, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1542
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		O00294

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		O00294

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi115 – 131Poly-GluAdd BLAST17
Compositional biasi248 – 254Poly-Glu7

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the TUB family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2502, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158771

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_028236_5_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O00294

Identification of Orthologs from Complete Genome Data

More...OMAi		KIPAAMF

Database for complete collections of gene phylogenies

More...PhylomeDBi		O00294

TreeFam database of animal gene trees

More...TreeFami		TF314076

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.20.90.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR025659, Tubby-like_C
IPR000007, Tubby_C
IPR018066, Tubby_C_CS

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01167, Tub, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR01573, SUPERTUBBY

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF54518, SSF54518, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS01200, TUB_1, 1 hit
PS01201, TUB_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5TGM7Q5TGM7_HUMAN
Tubby-related protein 1
TULP1
161Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

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
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_02303164 – 116Missing in isoform 2. 1 PublicationAdd BLAST53

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
U82468 mRNA Translation: AAB53700.1
AF034923 AF034922 Genomic DNA Translation: AAB97966.1
AL033519 Genomic DNA No translation available.
BC032714 mRNA Translation: AAH32714.1
BC065261 mRNA Translation: AAH65261.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS4807.1 [O00294-1]
CCDS75436.1 [O00294-2]

NCBI Reference Sequences

More...RefSeqi		NP_001276324.1, NM_001289395.1 [O00294-2]
NP_003313.3, NM_003322.5 [O00294-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000229771; ENSP00000229771; ENSG00000112041 [O00294-1]
ENST00000322263; ENSP00000319414; ENSG00000112041 [O00294-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		7287

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:7287

UCSC genome browser

More...UCSCi		uc003okv.6, human [O00294-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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 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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2FIMX-ray1.90A/B290-542[»]
3C5NX-ray1.80A/B291-536[»]
SMRiO00294
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi113138, 2 interactors
IntActiO00294, 5 interactors
STRINGi9606.ENSP00000229771

PTM databases

iPTMnetiO00294
PhosphoSitePlusiO00294

Polymorphism and mutation databases

BioMutaiTULP1

Proteomic databases

MassIVEiO00294
PaxDbiO00294
PeptideAtlasiO00294
PRIDEiO00294
ProteomicsDBi47825 [O00294-1]
47826 [O00294-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		45745, 92 antibodies

The DNASU plasmid repository

More...DNASUi		7287

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		7287
DisGeNETi7287
EuPathDBiHostDB:ENSG00000112041.12

GeneCards: human genes, protein and diseases

More...GeneCardsi		TULP1
GeneReviewsiTULP1
HGNCiHGNC:12423, TULP1
HPAiENSG00000112041, Tissue enriched (retina)
MalaCardsiTULP1
MIMi600132, phenotype
602280, gene
613843, phenotype
neXtProtiNX_O00294
OpenTargetsiENSG00000112041
Orphaneti65, Leber congenital amaurosis
791, Retinitis pigmentosa
PharmGKBiPA37085

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2502, Eukaryota
GeneTreeiENSGT00940000158771
HOGENOMiCLU_028236_5_1_1
InParanoidiO00294
OMAiKIPAAMF
PhylomeDBiO00294
TreeFamiTF314076

Enzyme and pathway databases

PathwayCommonsiO00294

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		7287, 37 hits in 864 CRISPR screens
EvolutionaryTraceiO00294

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		TULP1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		7287
PharosiO00294, Tbio

Protein Ontology

More...PROi		PR:O00294
RNActiO00294, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000112041, Expressed in pigmented layer of retina and 88 other tissues
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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTULP1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O00294
Secondary accession number(s): O43536, Q5TGM5, Q8N571
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: September 23, 2008
Last modified: December 2, 2020
This is version 171 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

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