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UniProtKB - Q9H313 (TTYH1_HUMAN)

Entry version 137 (29 Sep 2021)
Sequence version 1 (01 Mar 2001)
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Protein

Protein tweety homolog 1

Gene

TTYH1

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 chloride channel. May be involved in cell adhesion (By similarity).

By similarity

Isoform 3 may be a Ca2+-independent and swelling-activated chloride channel, possibly involved in regulation of cell volume.

<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

Molecular functionChloride channel, Ion channel
Biological processCell adhesion, Ion transport, Transport
LigandChloride

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9H313

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-2672351, Stimuli-sensing channels [Q9H313-3]

Protein family/group databases

Transport Classification Database

More...TCDBi		1.A.48.1.2, 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_and_taxonomy_section">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 1
Short name:
hTTY1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:TTYH1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 19

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:13476, TTYH1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		605784, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9H313

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000167614

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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 – 43ExtracellularSequence analysisAdd BLAST43
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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>Transmembranei44 – 64Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini65 – 88CytoplasmicSequence analysisAdd BLAST24
Transmembranei89 – 109Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini110 – 214ExtracellularSequence analysisAdd BLAST105
Transmembranei215 – 235Helical; Name=3Sequence analysisAdd BLAST21
Topological domaini236 – 240CytoplasmicSequence analysis5
Transmembranei241 – 261Helical; Name=4Sequence analysisAdd BLAST21
Topological domaini262 – 390ExtracellularSequence analysisAdd BLAST129
Transmembranei391 – 411Helical; Name=5Sequence analysisAdd BLAST21
Topological domaini412 – 450CytoplasmicSequence analysisAdd BLAST39

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

Organism-specific databases

DisGeNET

More...DisGeNETi		57348

Open Targets

More...OpenTargetsi		ENSG00000167614

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA37778

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9H313, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		TTYH1

Domain mapping of disease mutations (DMDM)

More...DMDMi		74718142

<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_00003122391 – 450Protein tweety homolog 1Add BLAST450

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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>Glycosylationi130N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi205N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi284N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi355N-linked (GlcNAc...) asparagineSequence analysis1
<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 residuei440PhosphoserineBy similarity1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9H313

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9H313

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

More...PaxDbi		Q9H313

PeptideAtlas

More...PeptideAtlasi		Q9H313

PRoteomics IDEntifications database

More...PRIDEi		Q9H313

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		80648 [Q9H313-1]
80649 [Q9H313-2]
80650 [Q9H313-3]
80651 [Q9H313-4]
80652 [Q9H313-5]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q9H313, 4 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9H313

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

More...PhosphoSitePlusi		Q9H313

<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 brain, eye, ovary and testis, and at lower levels in muscle, placenta, liver and lung.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000167614, Expressed in ventricular zone and 154 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9H313, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9H313, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000167614, Tissue enriched (brain)

<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_section">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

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		121494, 6 interactors

Protein interaction database and analysis system

More...IntActi		Q9H313, 10 interactors

Molecular INTeraction database

More...MINTi		Q9H313

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000365714

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9H313, 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

<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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni428 – 450DisorderedSequence analysisAdd BLAST23

<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		ENSGT00950000186189

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_023758_0_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9H313

Identification of Orthologs from Complete Genome Data

More...OMAi		IWVRMCH

Database of Orthologous Groups

More...OrthoDBi		725378at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9H313

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_length">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 (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 5 <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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H313-1) [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
MGAPPGYRPS AWVHLLHQLP RADFQLRPVP SVFAPQEQEY QQALLLVAAL 
        60         70         80         90        100
AGLGLGLSLI FIAVYLIRFC CCRPPEPPGS KIPSPGGGCV TWSCIVALLA 
       110        120        130        140        150
GCTGIGIGFY GNSETSDGVS QLSSALLHAN HTLSTIDHLV LETVERLGEA 
       160        170        180        190        200
VRTELTTLEE VLEPRTELVA AARGARRQAE AAAQQLQGLA FWQGVPLSPL 
       210        220        230        240        250
QVAENVSFVE EYRWLAYVLL LLLELLVCLF TLLGLAKQSK WLVIVMTVMS 
       260        270        280        290        300
LLVLVLSWGS MGLEAATAVG LSDFCSNPDP YVLNLTQEET GLSSDILSYY 
       310        320        330        340        350
LLCNRAVSNP FQQRLTLSQR ALANIHSQLL GLEREAVPQF PSAQKPLLSL 
       360        370        380        390        400
EETLNVTEGN FHQLVALLHC RSLHKDYGAA LRGLCEDALE GLLFLLLFSL 
       410        420        430        440        450
LSAGALATAL CSLPRAWALF PPSDDYDDTD DDDPFNPQES KRFVQWQSSI
Length:450
Mass (Da):49,051
Last modified:March 1, 2001 - v1
<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:iAD3DA4569F083657
GO
Isoform 2 (identifier: Q9H313-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     437-437: P → PQ

Show »
Length:451
Mass (Da):49,179
Checksum:i02C3FECCEC7EAC3D
GO
Isoform 3 (identifier: Q9H313-3) [UniParc]FASTAAdd to basket
Also known as: TTYH1s

The sequence of this isoform differs from the canonical sequence as follows:
     423-450: SDDYDDTDDDDPFNPQESKRFVQWQSSI → RNPSALCSGSRLSEPLLPAGLEPGSPLRSFPGCRRRPH

Show »
Length:460
Mass (Da):49,770
Checksum:i60E044715B59032F
GO
Isoform 4 (identifier: Q9H313-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-212: Missing.
     213-213: R → M
     437-437: P → PQ

Show »
Length:239
Mass (Da):26,489
Checksum:i0AB57E2FD3E890B4
GO
Isoform 5 (identifier: Q9H313-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-85: Missing.
     86-101: GGGCVTWSCIVALLAG → MEKVRLWRGSESRAAI
     140-142: Missing.
     376-450: DYGAALRGLC...KRFVQWQSSI → VKPLPSQFLLPRGASVSTHRTTSSFSLDPCHCA

Show »
Length:320
Mass (Da):35,119
Checksum:i37D888ECF630256B
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 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7ET67E7ET67_HUMAN
Protein tweety homolog
TTYH1
280Annotation 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>
C9J3K6C9J3K6_HUMAN
Protein tweety homolog
TTYH1
157Annotation 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>
F8WBE6F8WBE6_HUMAN
Protein tweety homolog
TTYH1
113Annotation 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>
A0A0G2JPK6A0A0G2JPK6_HUMAN
Protein tweety homolog
TTYH1
323Annotation 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>
A0A0G2JNF5A0A0G2JNF5_HUMAN
Protein tweety homolog
TTYH1
105Annotation 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>
A0A0G2JNU8A0A0G2JNU8_HUMAN
Protein tweety homolog
TTYH1
46Annotation 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>
G8JLI0G8JLI0_HUMAN
Protein tweety homolog 1
TTYH1
38Annotation 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>

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 conflicti380A → S in BAD20189 (PubMed:15010458).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_0297531 – 212Missing in isoform 4. 1 PublicationAdd BLAST212
Alternative sequenceiVSP_0297541 – 85Missing in isoform 5. 1 PublicationAdd BLAST85
Alternative sequenceiVSP_02975586 – 101GGGCV…ALLAG → MEKVRLWRGSESRAAI in isoform 5. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_029756140 – 142Missing in isoform 5. 1 Publication3
Alternative sequenceiVSP_029757213R → M in isoform 4. 1 Publication1
Alternative sequenceiVSP_029758376 – 450DYGAA…WQSSI → VKPLPSQFLLPRGASVSTHR TTSSFSLDPCHCA in isoform 5. 1 PublicationAdd BLAST75
Alternative sequenceiVSP_029759423 – 450SDDYD…WQSSI → RNPSALCSGSRLSEPLLPAG LEPGSPLRSFPGCRRRPH in isoform 3. 3 PublicationsAdd BLAST28
Alternative sequenceiVSP_029760437P → PQ in isoform 2 and isoform 4. 2 Publications1

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
AF177909 mRNA Translation: AAG02580.1
AB162930 mRNA Translation: BAD20189.1
AB188496 mRNA Translation: BAD37142.1
AK126690 mRNA Translation: BAC86645.1
AK289468 mRNA Translation: BAF82157.1
CU207370 Genomic DNA No translation available.
CU467002 Genomic DNA No translation available.
CH471135 Genomic DNA Translation: EAW72240.1
CH471135 Genomic DNA Translation: EAW72242.1
BC011347 mRNA Translation: AAH11347.1
BC019358 mRNA Translation: AAH19358.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS12893.1 [Q9H313-1]
CCDS33106.1 [Q9H313-3]
CCDS56102.1 [Q9H313-2]

NCBI Reference Sequences

More...RefSeqi		NP_001005367.1, NM_001005367.2 [Q9H313-3]
NP_001188390.1, NM_001201461.1 [Q9H313-2]
NP_065710.1, NM_020659.3 [Q9H313-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000301194; ENSP00000301194; ENSG00000167614 [Q9H313-2]
ENST00000376530; ENSP00000365713; ENSG00000167614 [Q9H313-1]
ENST00000376531; ENSP00000365714; ENSG00000167614 [Q9H313-3]
ENST00000611133; ENSP00000480177; ENSG00000276887 [Q9H313-2]
ENST00000611471; ENSP00000484881; ENSG00000275650 [Q9H313-3]
ENST00000611711; ENSP00000484774; ENSG00000276887 [Q9H313-1]
ENST00000614387; ENSP00000484077; ENSG00000276887 [Q9H313-4]
ENST00000614458; ENSP00000484835; ENSG00000276887 [Q9H313-3]
ENST00000616929; ENSP00000479779; ENSG00000276537 [Q9H313-2]
ENST00000619450; ENSP00000480769; ENSG00000275650 [Q9H313-1]
ENST00000619453; ENSP00000484548; ENSG00000276537 [Q9H313-3]
ENST00000619591; ENSP00000481601; ENSG00000275650 [Q9H313-2]
ENST00000620133; ENSP00000483288; ENSG00000276887 [Q9H313-5]
ENST00000620298; ENSP00000481138; ENSG00000276537 [Q9H313-1]
ENST00000622771; ENSP00000482372; ENSG00000276537 [Q9H313-4]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		57348

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:57348

UCSC genome browser

More...UCSCi		uc002qfq.4, human [Q9H313-1]

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
AF177909 mRNA Translation: AAG02580.1
AB162930 mRNA Translation: BAD20189.1
AB188496 mRNA Translation: BAD37142.1
AK126690 mRNA Translation: BAC86645.1
AK289468 mRNA Translation: BAF82157.1
CU207370 Genomic DNA No translation available.
CU467002 Genomic DNA No translation available.
CH471135 Genomic DNA Translation: EAW72240.1
CH471135 Genomic DNA Translation: EAW72242.1
BC011347 mRNA Translation: AAH11347.1
BC019358 mRNA Translation: AAH19358.1
CCDSiCCDS12893.1 [Q9H313-1]
CCDS33106.1 [Q9H313-3]
CCDS56102.1 [Q9H313-2]
RefSeqiNP_001005367.1, NM_001005367.2 [Q9H313-3]
NP_001188390.1, NM_001201461.1 [Q9H313-2]
NP_065710.1, NM_020659.3 [Q9H313-1]

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

BioGRIDi121494, 6 interactors
IntActiQ9H313, 10 interactors
MINTiQ9H313
STRINGi9606.ENSP00000365714

Protein family/group databases

TCDBi1.A.48.1.2, the anion channel tweety (tweety) family

PTM databases

GlyGeniQ9H313, 4 sites
iPTMnetiQ9H313
PhosphoSitePlusiQ9H313

Genetic variation databases

BioMutaiTTYH1
DMDMi74718142

Proteomic databases

jPOSTiQ9H313
MassIVEiQ9H313
PaxDbiQ9H313
PeptideAtlasiQ9H313
PRIDEiQ9H313
ProteomicsDBi80648 [Q9H313-1]
80649 [Q9H313-2]
80650 [Q9H313-3]
80651 [Q9H313-4]
80652 [Q9H313-5]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		32911, 171 antibodies

The DNASU plasmid repository

More...DNASUi		57348

Genome annotation databases

EnsembliENST00000301194; ENSP00000301194; ENSG00000167614 [Q9H313-2]
ENST00000376530; ENSP00000365713; ENSG00000167614 [Q9H313-1]
ENST00000376531; ENSP00000365714; ENSG00000167614 [Q9H313-3]
ENST00000611133; ENSP00000480177; ENSG00000276887 [Q9H313-2]
ENST00000611471; ENSP00000484881; ENSG00000275650 [Q9H313-3]
ENST00000611711; ENSP00000484774; ENSG00000276887 [Q9H313-1]
ENST00000614387; ENSP00000484077; ENSG00000276887 [Q9H313-4]
ENST00000614458; ENSP00000484835; ENSG00000276887 [Q9H313-3]
ENST00000616929; ENSP00000479779; ENSG00000276537 [Q9H313-2]
ENST00000619450; ENSP00000480769; ENSG00000275650 [Q9H313-1]
ENST00000619453; ENSP00000484548; ENSG00000276537 [Q9H313-3]
ENST00000619591; ENSP00000481601; ENSG00000275650 [Q9H313-2]
ENST00000620133; ENSP00000483288; ENSG00000276887 [Q9H313-5]
ENST00000620298; ENSP00000481138; ENSG00000276537 [Q9H313-1]
ENST00000622771; ENSP00000482372; ENSG00000276537 [Q9H313-4]
GeneIDi57348
KEGGihsa:57348
UCSCiuc002qfq.4, human [Q9H313-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		57348
DisGeNETi57348

GeneCards: human genes, protein and diseases

More...GeneCardsi		TTYH1
HGNCiHGNC:13476, TTYH1
HPAiENSG00000167614, Tissue enriched (brain)
MIMi605784, gene
neXtProtiNX_Q9H313
OpenTargetsiENSG00000167614
PharmGKBiPA37778
VEuPathDBiHostDB:ENSG00000167614

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4433, Eukaryota
GeneTreeiENSGT00950000186189
HOGENOMiCLU_023758_0_1_1
InParanoidiQ9H313
OMAiIWVRMCH
OrthoDBi725378at2759
PhylomeDBiQ9H313
TreeFamiTF319025

Enzyme and pathway databases

PathwayCommonsiQ9H313
ReactomeiR-HSA-2672351, Stimuli-sensing channels [Q9H313-3]

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		57348, 24 hits in 1007 CRISPR screens

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

More...ChiTaRSi		TTYH1, human

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

More...GenomeRNAii		57348
PharosiQ9H313, Tbio

Protein Ontology

More...PROi		PR:Q9H313
RNActiQ9H313, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000167614, Expressed in ventricular zone and 154 other tissues
ExpressionAtlasiQ9H313, baseline and differential
GenevisibleiQ9H313, 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

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 nameiTTYH1_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: Q9H313
Secondary accession number(s): B0VJY3
, B0VJY4, B0VJY5, B2VAL9, Q5U682, Q68A17, Q6L750, Q6ZTE5, Q8WUU2
<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_and_isoforms">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: March 1, 2001
Last modified: September 29, 2021
This is version 137 of the entry and version 1 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 19
    Human chromosome 19: 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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