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UniProtKB - Q9H313 (TTYH1_HUMAN)

Protein

Protein tweety homolog 1

Gene

TTYH1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

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
  • chloride channel activity Source: Reactome
  • iron ion transmembrane transporter activity Source: UniProtKB
  • volume-sensitive chloride channel activity Source: FlyBase
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

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

Enzyme and pathway databases

ReactomeiR-HSA-2672351 Stimuli-sensing channels

Protein family/group databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
Protein tweety homolog 1
Short name:
hTTY1
Gene namesi
Name:TTYH1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000167614.13
HGNCiHGNC:13476 TTYH1
MIMi605784 gene
neXtProtiNX_Q9H313

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; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 43ExtracellularSequence analysisAdd BLAST43
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

Pathology & Biotechi

Organism-specific databases

DisGeNETi57348
OpenTargetsiENSG00000167614
PharmGKBiPA37778

Polymorphism and mutation databases

BioMutaiTTYH1
DMDMi74718142

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003122391 – 450Protein tweety homolog 1Add BLAST450

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi130N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi205N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi284N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi355N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei440PhosphoserineBy similarity1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

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

PTM databases

iPTMnetiQ9H313
PhosphoSitePlusiQ9H313

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

BgeeiENSG00000167614 Expressed in 135 organ(s), highest expression level in nucleus accumbens
ExpressionAtlasiQ9H313 baseline and differential
GenevisibleiQ9H313 HS

Organism-specific databases

HPAiHPA023617
HPA050655

Interactioni

Protein-protein interaction databases

BioGridi121494, 1 interactor
IntActiQ9H313, 1 interactor

Structurei

3D structure databases

ProteinModelPortaliQ9H313
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi424 – 433Poly-Asp10

Sequence similaritiesi

Belongs to the tweety family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4433 Eukaryota
ENOG410ZNTN LUCA
GeneTreeiENSGT00390000010182
HOVERGENiHBG108621
InParanoidiQ9H313
KOiK22641
OMAiESKRFVQ
OrthoDBiEOG091G05MR
PhylomeDBiQ9H313
TreeFamiTF319025

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

Sequences (5+)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 7 potential isoforms that are computationally mapped.iShow all

Isoform 1 (identifier: Q9H313-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
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

Note: No experimental confirmation available.
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

Note: No experimental confirmation available.
Show »
Length:320
Mass (Da):35,119
Checksum:i37D888ECF630256B
GO

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8WBE6F8WBE6_HUMAN
Protein tweety homolog
TTYH1
113Annotation score:
C9J3K6C9J3K6_HUMAN
Protein tweety homolog
TTYH1
157Annotation score:
E7ET67E7ET67_HUMAN
Protein tweety homolog
TTYH1
280Annotation score:
A0A0G2JPK6A0A0G2JPK6_HUMAN
Protein tweety homolog
TTYH1
323Annotation score:
G8JLI0G8JLI0_HUMAN
Protein tweety homolog
TTYH1
38Annotation score:
A0A0G2JNU8A0A0G2JNU8_HUMAN
Protein tweety homolog
TTYH1
46Annotation score:
A0A0G2JNF5A0A0G2JNF5_HUMAN
Protein tweety homolog
TTYH1
105Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti380A → S in BAD20189 (PubMed:15010458).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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]
UniGeneiHs.268728

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]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiTTYH1_HUMAN
AccessioniPrimary (citable) accession number: Q9H313
Secondary accession number(s): B0VJY3
, B0VJY4, B0VJY5, B2VAL9, Q5U682, Q68A17, Q6L750, Q6ZTE5, Q8WUU2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: March 1, 2001
Last modified: September 12, 2018
This is version 116 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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