Human Gene TTYH1 (ENST00000376531.3) from GENCODE V44
  Description: Homo sapiens tweety family member 1 (TTYH1), transcript variant 2, mRNA. (from RefSeq NM_001005367)
RefSeq Summary (NM_001005367): This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-independent, volume-sensitive large conductance chloride(-) channel. Three transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jan 2011].
Gencode Transcript: ENST00000376531.3
Gencode Gene: ENSG00000167614.14
Transcript (Including UTRs)
   Position: hg38 chr19:54,415,526-54,436,719 Size: 21,194 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg38 chr19:54,415,553-54,436,366 Size: 20,814 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr19:54,415,526-54,436,719)mRNA (may differ from genome)Protein (460 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
OMIMPubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Protein tweety homolog 1; Short=hTTY1;
FUNCTION: Probable chloride channel. May be involved in cell adhesion (By similarity).
FUNCTION: Isoform 3 may be a Ca(2+)-independent and swelling- activated chloride channel, possibly involved in regulation of cell volume.
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein (By similarity).
TISSUE SPECIFICITY: Expressed in brain, eye, ovary and testis, and at lower levels in muscle, placenta, liver and lung.
SIMILARITY: Belongs to the tweety family.

-  Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -13.4027-0.496 Picture PostScript Text
3' UTR -150.00353-0.425 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006990 - Tweety

Pfam Domains:
PF04906 - Tweety

ModBase Predicted Comparative 3D Structure on Q9H313
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005254 chloride channel activity
GO:0005381 iron ion transmembrane transporter activity
GO:0005509 calcium ion binding
GO:0072320 volume-sensitive chloride channel activity

Biological Process:
GO:0000278 mitotic cell cycle
GO:0006811 ion transport
GO:0006821 chloride transport
GO:0006826 iron ion transport
GO:0007155 cell adhesion
GO:0031589 cell-substrate adhesion
GO:0034220 ion transmembrane transport
GO:0034755 iron ion transmembrane transport
GO:0046847 filopodium assembly
GO:0098609 cell-cell adhesion
GO:1902476 chloride transmembrane transport

Cellular Component:
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030868 smooth endoplasmic reticulum membrane
GO:0031527 filopodium membrane
GO:0032433 filopodium tip
GO:0034707 chloride channel complex

-  Descriptions from all associated GenBank mRNAs
  LF207480 - JP 2014500723-A/14983: Polycomb-Associated Non-Coding RNAs.
MA443057 - JP 2018138019-A/14983: Polycomb-Associated Non-Coding RNAs.
AB188496 - Homo sapiens TTYH1 mRNA for tweety homolog 1 (Drosophila), complete cds, clone: TH078B09.
AK289468 - Homo sapiens cDNA FLJ78386 complete cds, highly similar to Homo sapiens tweety homolog 1 (Drosophila) (TTYH1), transcript variant 2, mRNA.
AK293468 - Homo sapiens cDNA FLJ53973 complete cds, highly similar to Homo sapiens tweety homolog 1 (TTYH1), transcript variant 1, mRNA.
BC065919 - Homo sapiens tweety homolog 1 (Drosophila), mRNA (cDNA clone IMAGE:5735116), partial cds.
AF177909 - Homo sapiens TTYH1 mRNA, complete cds.
JD128789 - Sequence 109813 from Patent EP1572962.
BC011347 - Homo sapiens tweety homolog 1 (Drosophila), mRNA (cDNA clone MGC:16902 IMAGE:4215136), complete cds.
AB162930 - Homo sapiens hTTY1s mRNA, complete cds.
AK126690 - Homo sapiens cDNA FLJ44736 fis, clone BRACE3026802.
LF366601 - JP 2014500723-A/174104: Polycomb-Associated Non-Coding RNAs.
MA602178 - JP 2018138019-A/174104: Polycomb-Associated Non-Coding RNAs.
LF207481 - JP 2014500723-A/14984: Polycomb-Associated Non-Coding RNAs.
MA443058 - JP 2018138019-A/14984: Polycomb-Associated Non-Coding RNAs.
BC019358 - Homo sapiens tweety homolog 1 (Drosophila), mRNA (cDNA clone MGC:13230 IMAGE:3960435), complete cds.
KJ902948 - Synthetic construct Homo sapiens clone ccsbBroadEn_12342 TTYH1 gene, encodes complete protein.
CU676438 - Synthetic construct Homo sapiens gateway clone IMAGE:100016857 5' read TTYH1 mRNA.
JD470714 - Sequence 451738 from Patent EP1572962.
JD401293 - Sequence 382317 from Patent EP1572962.
JD406323 - Sequence 387347 from Patent EP1572962.
JD403367 - Sequence 384391 from Patent EP1572962.
JD466036 - Sequence 447060 from Patent EP1572962.
LF366612 - JP 2014500723-A/174115: Polycomb-Associated Non-Coding RNAs.
MA602189 - JP 2018138019-A/174115: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9H313 (Reactome details) participates in the following event(s):

R-HSA-2744349 TTYH1 transports cytosolic Cl- to extracellular region
R-HSA-2672351 Stimuli-sensing channels
R-HSA-983712 Ion channel transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: B0VJY3, B0VJY4, B0VJY5, B2VAL9, ENST00000376531.1, ENST00000376531.2, NM_001005367, Q5U682, Q68A17, Q6L750, Q6ZTE5, Q8WUU2, Q9H313, TTYH1_HUMAN, uc002qfr.1, uc002qfr.2, uc002qfr.3, uc002qfr.4
UCSC ID: ENST00000376531.3
RefSeq Accession: NM_001005367
Protein: Q9H313 (aka TTYH1_HUMAN)
CCDS: CCDS33106.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.