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UniProtKB - Q9C0H2 (TTYH3_HUMAN)

Entry version 133 (02 Dec 2020)
Sequence version 3 (04 Dec 2007)
Previous versions | rss
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Protein

Protein tweety homolog 3

Gene

TTYH3

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

Probable large-conductance Ca2+-activated chloride channel. May play a role in Ca2+ signal transduction.1 Publication

Miscellaneous

The current is completely inhibited by the addition of an anion permeability inhibitor. Addition of a Ca2+ ionophore induces an outward-rectified current in mock-transfected cells, but it introduced an overt linear current in TTYH3-transfected cells.

<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

  • chloride channel activity Source: UniProtKB
  • intracellular calcium activated chloride channel activity Source: FlyBase
  • volume-sensitive chloride channel activity Source: GO_Central
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

Molecular functionChloride channel, Ion channel
Biological processIon transport, Transport
LigandCalcium, Chloride

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9C0H2

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-2672351, Stimuli-sensing channels

Protein family/group databases

Transport Classification Database

More...TCDBi		1.A.48.1.4, the anion channel tweety (tweety) family

<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:
Protein tweety homolog 3
Short name:
hTTY3
<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:TTYH3
Synonyms:KIAA1691
<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 7

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000136295.14

Human Gene Nomenclature Database

More...HGNCi		HGNC:22222, TTYH3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		608919, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9C0H2

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 42ExtracellularSequence analysisAdd BLAST42
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei43 – 63Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini64 – 86CytoplasmicSequence analysisAdd BLAST23
Transmembranei87 – 107Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini108 – 211ExtracellularSequence analysisAdd BLAST104
Transmembranei212 – 232Helical; Name=3Sequence analysisAdd BLAST21
Topological domaini233 – 236CytoplasmicSequence analysis4
Transmembranei237 – 257Helical; Name=4Sequence analysisAdd BLAST21
Topological domaini258 – 386ExtracellularSequence analysisAdd BLAST129
Transmembranei387 – 407Helical; Name=5Sequence analysisAdd BLAST21
Topological domaini408 – 523CytoplasmicSequence analysisAdd BLAST116

Keywords - Cellular componenti

Cell membrane, Membrane

<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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi128T → A: Does not affect N-glycosylation state. 1 Publication1
Mutagenesisi146T → A: Does not affect N-glycosylation state. 1 Publication1
Mutagenesisi353T → A: Abolishes N-glycosylation. 1 Publication1
Mutagenesisi367R → Q: Induces a stronger permeability to cations. 1 Publication1
Mutagenesisi370H → D: Shows a different ion selectivity. 1 Publication1

Organism-specific databases

DisGeNET

More...DisGeNETi		80727

Open Targets

More...OpenTargetsi		ENSG00000136295

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134908427

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9C0H2, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		TTYH3

Domain mapping of disease mutations (DMDM)

More...DMDMi		162416242

<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_00003122511 – 523Protein tweety homolog 3Add BLAST523

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi126N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi144N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi351N-linked (GlcNAc...) asparagine1 Publication1
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei496PhosphoserineBy similarity1
Modified residuei504PhosphoserineBy similarity1
Modified residuei522PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N-glycosylated.2 Publications

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9C0H2

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9C0H2

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9C0H2

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9C0H2

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

More...PaxDbi		Q9C0H2

PeptideAtlas

More...PeptideAtlasi		Q9C0H2

PRoteomics IDEntifications database

More...PRIDEi		Q9C0H2

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		80038 [Q9C0H2-1]
80039 [Q9C0H2-2]
80040 [Q9C0H2-3]
80041 [Q9C0H2-4]

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		1671, 2 N-Linked glycans (1 site)

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q9C0H2, 3 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9C0H2

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

More...PhosphoSitePlusi		Q9C0H2

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q9C0H2

<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

Expressed in excitable tissues. Expressed in the brain, heart, skeletal muscle, colon, spleen, kidney and peripheral blood leukocytes.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000136295, Expressed in ventricular zone and 181 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9C0H2, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9C0H2, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000136295, Low tissue specificity

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		123277, 44 interactors

Protein interaction database and analysis system

More...IntActi		Q9C0H2, 24 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000258796

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9C0H2, protein

<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

<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 tweety family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4433, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00950000183060

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_023758_0_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9C0H2

Identification of Orthologs from Complete Genome Data

More...OMAi		DTYITRV

Database of Orthologous Groups

More...OrthoDBi		725378at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9C0H2

TreeFam database of animal gene trees

More...TreeFami		TF319025

Family and domain databases

Conserved Domains Database

More...CDDi		cd07912, Tweety_N, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR006990, Tweety

The PANTHER Classification System

More...PANTHERi		PTHR12424, PTHR12424, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF04906, Tweety, 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 (4+)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 4 <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 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9C0H2-1) [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
MAGVSYAAPW WVSLLHRLPH FDLSWEATSS QFRPEDTDYQ QALLLLGAAA 
        60         70         80         90        100
LACLALDLLF LLFYSFWLCC RRRKSEEHLD ADCCCTAWCV IIATLVCSAG 
       110        120        130        140        150
IAVGFYGNGE TSDGIHRATY SLRHANRTVA GVQDRVWDTA VGLNHTAEPS 
       160        170        180        190        200
LQTLERQLAG RPEPLRAVQR LQGLLETLLG YTAAIPFWRN TAVSLEVLAE 
       210        220        230        240        250
QVDLYDWYRW LGYLGLLLLD VIICLLVLVG LIRSSKGILV GVCLLGVLAL 
       260        270        280        290        300
VISWGALGLE LAVSVGSSDF CVDPDAYVTK MVEEYSVLSG DILQYYLACS 
       310        320        330        340        350
PRAANPFQQK LSGSHKALVE MQDVVAELLR TVPWEQPATK DPLLRVQEVL 
       360        370        380        390        400
NGTEVNLQHL TALVDCRSLH LDYVQALTGF CYDGVEGLIY LALFSFVTAL 
       410        420        430        440        450
MFSSIVCSVP HTWQQKRGPD EDGEEEAAPG PRQAHDSLYR VHMPSLYSCG 
       460        470        480        490        500
SSYGSETSIP AAAHTVSNAP VTEYMSQNAN FQNPRCENTP LIGRESPPPS 
       510        520 
YTSSMRAKYL ATSQPRPDSS GSH
Length:523
Mass (Da):57,545
Last modified:December 4, 2007 - 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:iB398391787BA0301
GO
Isoform 2 (identifier: Q9C0H2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     210-241: Missing.

Show »
Length:491
Mass (Da):54,139
Checksum:i55B1B419CA483973
GO
Isoform 3 (identifier: Q9C0H2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-208: MAGVSYAAPW...AEQVDLYDWY → MPSGVPGCWP...VPWRTPRFAC

Show »
Length:352
Mass (Da):38,486
Checksum:i6424BEBAB65DE76D
GO
Isoform 4 (identifier: Q9C0H2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     501-523: YTSSMRAKYLATSQPRPDSSGSH → RYLAALDSGSHAGWQFKPMDSARTLW

Show »
Length:526
Mass (Da):57,982
Checksum:i37735FE203C594D9
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
H7C3T6H7C3T6_HUMAN
Protein tweety homolog
TTYH3
186Annotation score:

Annotation score:2 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>
A8MXJ9A8MXJ9_HUMAN
Protein tweety homolog
TTYH3
116Annotation score:

Annotation score:2 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB21782 differs from that shown. Reason: Erroneous initiation.Curated
The sequence EAL23958 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti169Q → K in BAB84984 (PubMed:12693554).Curated1
Sequence conflicti346V → F in BE263005 (PubMed:15489334).Curated1
Sequence conflicti520S → R in BAB84984 (PubMed:12693554).Curated1

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_0297691 – 208MAGVS…LYDWY → MPSGVPGCWPQLPLKGPWRP TPRPRVPVPWRTPRFAC in isoform 3. 1 PublicationAdd BLAST208
Alternative sequenceiVSP_029770210 – 241Missing in isoform 2. 1 PublicationAdd BLAST32
Alternative sequenceiVSP_042220501 – 523YTSSM…SSGSH → RYLAALDSGSHAGWQFKPMD SARTLW in isoform 4. 1 PublicationAdd BLAST23

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
AB162931 mRNA Translation: BAD20190.1
AB051478 mRNA Translation: BAB21782.2 Different initiation.
AK124608 mRNA Translation: BAC85898.1
AC006028 Genomic DNA No translation available.
AC073462 Genomic DNA No translation available.
CH236953 Genomic DNA Translation: EAL23958.1 Sequence problems.
CH471144 Genomic DNA Translation: EAW87266.1
BC131824 mRNA Translation: AAI31825.1
BC152447 mRNA Translation: AAI52448.1
BE263005 mRNA No translation available.
AK074158 mRNA Translation: BAB84984.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS34588.1 [Q9C0H2-1]

NCBI Reference Sequences

More...RefSeqi		NP_079526.1, NM_025250.2 [Q9C0H2-1]
XP_011513837.1, XM_011515535.2 [Q9C0H2-4]
XP_016868145.1, XM_017012656.1 [Q9C0H2-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000258796; ENSP00000258796; ENSG00000136295 [Q9C0H2-1]
ENST00000403167; ENSP00000385015; ENSG00000136295 [Q9C0H2-3]
ENST00000407643; ENSP00000385316; ENSG00000136295 [Q9C0H2-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		80727

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:80727

UCSC genome browser

More...UCSCi		uc003smp.4, human [Q9C0H2-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB162931 mRNA Translation: BAD20190.1
AB051478 mRNA Translation: BAB21782.2 Different initiation.
AK124608 mRNA Translation: BAC85898.1
AC006028 Genomic DNA No translation available.
AC073462 Genomic DNA No translation available.
CH236953 Genomic DNA Translation: EAL23958.1 Sequence problems.
CH471144 Genomic DNA Translation: EAW87266.1
BC131824 mRNA Translation: AAI31825.1
BC152447 mRNA Translation: AAI52448.1
BE263005 mRNA No translation available.
AK074158 mRNA Translation: BAB84984.1
CCDSiCCDS34588.1 [Q9C0H2-1]
RefSeqiNP_079526.1, NM_025250.2 [Q9C0H2-1]
XP_011513837.1, XM_011515535.2 [Q9C0H2-4]
XP_016868145.1, XM_017012656.1 [Q9C0H2-2]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi123277, 44 interactors
IntActiQ9C0H2, 24 interactors
STRINGi9606.ENSP00000258796

Protein family/group databases

TCDBi1.A.48.1.4, the anion channel tweety (tweety) family

PTM databases

GlyConnecti1671, 2 N-Linked glycans (1 site)
GlyGeniQ9C0H2, 3 sites
iPTMnetiQ9C0H2
PhosphoSitePlusiQ9C0H2
SwissPalmiQ9C0H2

Polymorphism and mutation databases

BioMutaiTTYH3
DMDMi162416242

Proteomic databases

EPDiQ9C0H2
jPOSTiQ9C0H2
MassIVEiQ9C0H2
MaxQBiQ9C0H2
PaxDbiQ9C0H2
PeptideAtlasiQ9C0H2
PRIDEiQ9C0H2
ProteomicsDBi80038 [Q9C0H2-1]
80039 [Q9C0H2-2]
80040 [Q9C0H2-3]
80041 [Q9C0H2-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		43641, 24 antibodies

Genome annotation databases

EnsembliENST00000258796; ENSP00000258796; ENSG00000136295 [Q9C0H2-1]
ENST00000403167; ENSP00000385015; ENSG00000136295 [Q9C0H2-3]
ENST00000407643; ENSP00000385316; ENSG00000136295 [Q9C0H2-2]
GeneIDi80727
KEGGihsa:80727
UCSCiuc003smp.4, human [Q9C0H2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		80727
DisGeNETi80727
EuPathDBiHostDB:ENSG00000136295.14

GeneCards: human genes, protein and diseases

More...GeneCardsi		TTYH3
HGNCiHGNC:22222, TTYH3
HPAiENSG00000136295, Low tissue specificity
MIMi608919, gene
neXtProtiNX_Q9C0H2
OpenTargetsiENSG00000136295
PharmGKBiPA134908427

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4433, Eukaryota
GeneTreeiENSGT00950000183060
HOGENOMiCLU_023758_0_1_1
InParanoidiQ9C0H2
OMAiDTYITRV
OrthoDBi725378at2759
PhylomeDBiQ9C0H2
TreeFamiTF319025

Enzyme and pathway databases

PathwayCommonsiQ9C0H2
ReactomeiR-HSA-2672351, Stimuli-sensing channels

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		80727, 3 hits in 842 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		TTYH3, human

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

More...GenomeRNAii		80727
PharosiQ9C0H2, Tbio

Protein Ontology

More...PROi		PR:Q9C0H2
RNActiQ9C0H2, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000136295, Expressed in ventricular zone and 181 other tissues
ExpressionAtlasiQ9C0H2, baseline and differential
GenevisibleiQ9C0H2, HS

Family and domain databases

CDDicd07912, Tweety_N, 1 hit
InterProiView protein in InterPro
IPR006990, Tweety
PANTHERiPTHR12424, PTHR12424, 1 hit
PfamiView protein in Pfam
PF04906, Tweety, 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 nameiTTYH3_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: Q9C0H2
Secondary accession number(s): A4D201
, B7WP98, Q6L749, Q6ZVG3, Q8TEG6
<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: December 4, 2007
Last sequence update: December 4, 2007
Last modified: December 2, 2020
This is version 133 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

Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families
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