UniProtKB - Q9H313 (TTYH1_HUMAN)
Protein
Protein tweety homolog 1
Gene
TTYH1
Organism
Homo sapiens (Human)
Status
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.
GO - Molecular functioni
- calcium ion binding Source: Ensembl
- intracellular calcium activated chloride channel activity Source: GO_Central
- iron ion transmembrane transporter activity Source: UniProtKB
- volume-sensitive chloride channel activity Source: FlyBase
GO - Biological processi
- cell-cell adhesion Source: Ensembl
- cell-substrate adhesion Source: Ensembl
- chloride transport Source: FlyBase
- filopodium assembly Source: Ensembl
- ion transmembrane transport Source: Reactome
- iron ion transport Source: UniProtKB
- mitotic cell cycle Source: Ensembl
Keywordsi
Molecular function | Chloride channel, Ion channel |
Biological process | Cell adhesion, Ion transport, Transport |
Ligand | Chloride |
Enzyme and pathway databases
PathwayCommonsi | Q9H313 |
Reactomei | R-HSA-2672351, Stimuli-sensing channels [Q9H313-3] |
Protein family/group databases
TCDBi | 1.A.48.1.2, the anion channel tweety (tweety) family |
Names & Taxonomyi
Protein namesi | Recommended name: Protein tweety homolog 1Short name: hTTY1 |
Gene namesi | Name:TTYH1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:13476, TTYH1 |
MIMi | 605784, gene |
neXtProti | NX_Q9H313 |
VEuPathDBi | HostDB:ENSG00000167614.13 |
Subcellular locationi
Plasma membrane
- Cell membrane By similarity; Multi-pass membrane protein By similarity
Endoplasmic reticulum
- smooth endoplasmic reticulum membrane Source: GO_Central
Plasma Membrane
- filopodium membrane Source: Ensembl
- plasma membrane Source: GO_Central
Other locations
- chloride channel complex Source: UniProtKB-KW
- filopodium tip Source: Ensembl
- integral component of membrane Source: UniProtKB
- synapse Source: Ensembl
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 43 | ExtracellularSequence analysisAdd BLAST | 43 | |
Transmembranei | 44 – 64 | Helical; Name=1Sequence analysisAdd BLAST | 21 | |
Topological domaini | 65 – 88 | CytoplasmicSequence analysisAdd BLAST | 24 | |
Transmembranei | 89 – 109 | Helical; Name=2Sequence analysisAdd BLAST | 21 | |
Topological domaini | 110 – 214 | ExtracellularSequence analysisAdd BLAST | 105 | |
Transmembranei | 215 – 235 | Helical; Name=3Sequence analysisAdd BLAST | 21 | |
Topological domaini | 236 – 240 | CytoplasmicSequence analysis | 5 | |
Transmembranei | 241 – 261 | Helical; Name=4Sequence analysisAdd BLAST | 21 | |
Topological domaini | 262 – 390 | ExtracellularSequence analysisAdd BLAST | 129 | |
Transmembranei | 391 – 411 | Helical; Name=5Sequence analysisAdd BLAST | 21 | |
Topological domaini | 412 – 450 | CytoplasmicSequence analysisAdd BLAST | 39 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 57348 |
OpenTargetsi | ENSG00000167614 |
PharmGKBi | PA37778 |
Miscellaneous databases
Pharosi | Q9H313, Tbio |
Genetic variation databases
BioMutai | TTYH1 |
DMDMi | 74718142 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000312239 | 1 – 450 | Protein tweety homolog 1Add BLAST | 450 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 130 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 205 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 284 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 355 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 440 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
Glycoprotein, PhosphoproteinProteomic databases
jPOSTi | Q9H313 |
MassIVEi | Q9H313 |
PaxDbi | Q9H313 |
PeptideAtlasi | Q9H313 |
PRIDEi | Q9H313 |
ProteomicsDBi | 80648 [Q9H313-1] 80649 [Q9H313-2] 80650 [Q9H313-3] 80651 [Q9H313-4] 80652 [Q9H313-5] |
PTM databases
GlyGeni | Q9H313, 4 sites |
iPTMneti | Q9H313 |
PhosphoSitePlusi | Q9H313 |
Expressioni
Tissue specificityi
Expressed in brain, eye, ovary and testis, and at lower levels in muscle, placenta, liver and lung.1 Publication
Gene expression databases
Bgeei | ENSG00000167614, Expressed in ventricular zone and 154 other tissues |
ExpressionAtlasi | Q9H313, baseline and differential |
Genevisiblei | Q9H313, HS |
Organism-specific databases
HPAi | ENSG00000167614, Tissue enriched (brain) |
Interactioni
Binary interactionsi
Hide detailsQ9H313
With | #Exp. | IntAct |
---|---|---|
GPR37 [O15354] | 2 | EBI-20793786,EBI-15639515 |
Isoform 4 [Q9H313-4]
Protein-protein interaction databases
BioGRIDi | 121494, 6 interactors |
IntActi | Q9H313, 9 interactors |
MINTi | Q9H313 |
STRINGi | 9606.ENSP00000365714 |
Miscellaneous databases
RNActi | Q9H313, protein |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 424 – 433 | Poly-Asp | 10 |
Sequence similaritiesi
Belongs to the tweety family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG4433, Eukaryota |
GeneTreei | ENSGT00950000183060 |
HOGENOMi | CLU_023758_0_1_1 |
InParanoidi | Q9H313 |
OMAi | SYSPSIW |
OrthoDBi | 725378at2759 |
PhylomeDBi | Q9H313 |
TreeFami | TF319025 |
Family and domain databases
CDDi | cd07912, Tweety_N, 1 hit |
InterProi | View protein in InterPro IPR006990, Tweety |
PANTHERi | PTHR12424, PTHR12424, 1 hit |
Pfami | View protein in Pfam PF04906, Tweety, 1 hit |
s (5+)i Sequence
Sequence statusi: Complete.
This entry describes 5 produced by isoformsialternative splicing. AlignAdd to basketThis 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
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
Computationally mapped potential isoform sequencesi
There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE7ET67 | E7ET67_HUMAN | Protein tweety homolog | TTYH1 | 280 | Annotation score: | ||
C9J3K6 | C9J3K6_HUMAN | Protein tweety homolog | TTYH1 | 157 | Annotation score: | ||
F8WBE6 | F8WBE6_HUMAN | Protein tweety homolog | TTYH1 | 113 | Annotation score: | ||
A0A0G2JPK6 | A0A0G2JPK6_HUMAN | Protein tweety homolog | TTYH1 | 323 | Annotation score: | ||
A0A0G2JNF5 | A0A0G2JNF5_HUMAN | Protein tweety homolog | TTYH1 | 105 | Annotation score: | ||
A0A0G2JNU8 | A0A0G2JNU8_HUMAN | Protein tweety homolog | TTYH1 | 46 | Annotation score: | ||
G8JLI0 | G8JLI0_HUMAN | Protein tweety homolog 1 | TTYH1 | 38 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 380 | A → S in BAD20189 (PubMed:15010458).Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_029753 | 1 – 212 | Missing in isoform 4. 1 PublicationAdd BLAST | 212 | |
Alternative sequenceiVSP_029754 | 1 – 85 | Missing in isoform 5. 1 PublicationAdd BLAST | 85 | |
Alternative sequenceiVSP_029755 | 86 – 101 | GGGCV…ALLAG → MEKVRLWRGSESRAAI in isoform 5. 1 PublicationAdd BLAST | 16 | |
Alternative sequenceiVSP_029756 | 140 – 142 | Missing in isoform 5. 1 Publication | 3 | |
Alternative sequenceiVSP_029757 | 213 | R → M in isoform 4. 1 Publication | 1 | |
Alternative sequenceiVSP_029758 | 376 – 450 | DYGAA…WQSSI → VKPLPSQFLLPRGASVSTHR TTSSFSLDPCHCA in isoform 5. 1 PublicationAdd BLAST | 75 | |
Alternative sequenceiVSP_029759 | 423 – 450 | SDDYD…WQSSI → RNPSALCSGSRLSEPLLPAG LEPGSPLRSFPGCRRRPH in isoform 3. 3 PublicationsAdd BLAST | 28 | |
Alternative sequenceiVSP_029760 | 437 | P → PQ in isoform 2 and isoform 4. 2 Publications | 1 |
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 |
CCDSi | CCDS12893.1 [Q9H313-1] CCDS33106.1 [Q9H313-3] CCDS56102.1 [Q9H313-2] |
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
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 |
CCDSi | CCDS12893.1 [Q9H313-1] CCDS33106.1 [Q9H313-3] CCDS56102.1 [Q9H313-2] |
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] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 121494, 6 interactors |
IntActi | Q9H313, 9 interactors |
MINTi | Q9H313 |
STRINGi | 9606.ENSP00000365714 |
Protein family/group databases
TCDBi | 1.A.48.1.2, the anion channel tweety (tweety) family |
PTM databases
GlyGeni | Q9H313, 4 sites |
iPTMneti | Q9H313 |
PhosphoSitePlusi | Q9H313 |
Genetic variation databases
BioMutai | TTYH1 |
DMDMi | 74718142 |
Proteomic databases
jPOSTi | Q9H313 |
MassIVEi | Q9H313 |
PaxDbi | Q9H313 |
PeptideAtlasi | Q9H313 |
PRIDEi | Q9H313 |
ProteomicsDBi | 80648 [Q9H313-1] 80649 [Q9H313-2] 80650 [Q9H313-3] 80651 [Q9H313-4] 80652 [Q9H313-5] |
Protocols and materials databases
Antibodypediai | 32911, 164 antibodies |
Genome annotation databases
Organism-specific databases
CTDi | 57348 |
DisGeNETi | 57348 |
GeneCardsi | TTYH1 |
HGNCi | HGNC:13476, TTYH1 |
HPAi | ENSG00000167614, Tissue enriched (brain) |
MIMi | 605784, gene |
neXtProti | NX_Q9H313 |
OpenTargetsi | ENSG00000167614 |
PharmGKBi | PA37778 |
VEuPathDBi | HostDB:ENSG00000167614.13 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4433, Eukaryota |
GeneTreei | ENSGT00950000183060 |
HOGENOMi | CLU_023758_0_1_1 |
InParanoidi | Q9H313 |
OMAi | SYSPSIW |
OrthoDBi | 725378at2759 |
PhylomeDBi | Q9H313 |
TreeFami | TF319025 |
Enzyme and pathway databases
PathwayCommonsi | Q9H313 |
Reactomei | R-HSA-2672351, Stimuli-sensing channels [Q9H313-3] |
Miscellaneous databases
BioGRID-ORCSi | 57348, 24 hits in 984 CRISPR screens |
ChiTaRSi | TTYH1, human |
GenomeRNAii | 57348 |
Pharosi | Q9H313, Tbio |
PROi | PR:Q9H313 |
RNActi | Q9H313, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000167614, Expressed in ventricular zone and 154 other tissues |
ExpressionAtlasi | Q9H313, baseline and differential |
Genevisiblei | Q9H313, HS |
Family and domain databases
CDDi | cd07912, Tweety_N, 1 hit |
InterProi | View protein in InterPro IPR006990, Tweety |
PANTHERi | PTHR12424, PTHR12424, 1 hit |
Pfami | View protein in Pfam PF04906, Tweety, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | TTYH1_HUMAN | |
Accessioni | Q9H313Primary (citable) accession number: Q9H313 Secondary accession number(s): B0VJY3 Q8WUU2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 4, 2007 |
Last sequence update: | March 1, 2001 | |
Last modified: | April 7, 2021 | |
This is version 135 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families