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] See more...

Aliases for TTYH1 Gene

Aliases for TTYH1 Gene

  • Tweety Family Member 1 2 3 5
  • Protein Tweety Homolog 1 3 4
  • HTTY1 3 4
  • Tweety (Drosophila) Homolog 1 2
  • Tweety Homolog 1 (Drosophila) 2
  • Tweety Homolog 1 3
  • TTYH1 5

External Ids for TTYH1 Gene

Previous GeneCards Identifiers for TTYH1 Gene

  • GC19P055789
  • GC19P055351
  • GC19P059602
  • GC19P059618
  • GC19P054926
  • GC19P051250
  • GC19P054419
  • GC19P054470
  • GC19P054478
  • GC19P054527
  • GC19P054575
  • GC19P054427
  • GC19P054441
  • GC19P054451
  • GC19P054454
  • GC19P054462
  • GC19P055373
  • GC19P055610

Summaries for TTYH1 Gene

Entrez Gene Summary for TTYH1 Gene

  • 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]

GeneCards Summary for TTYH1 Gene

TTYH1 (Tweety Family Member 1) is a Protein Coding gene. Diseases associated with TTYH1 include Pediatric Infratentorial Ependymoma and Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive. Among its related pathways are Ion channel transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include calcium ion binding and iron ion transmembrane transporter activity. An important paralog of this gene is TTYH2.

UniProtKB/Swiss-Prot Summary for TTYH1 Gene

  • Probable chloride channel. May be involved in cell adhesion (By similarity).
  • Isoform 3 may be a Ca(2+)-independent and swelling-activated chloride channel, possibly involved in regulation of cell volume.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TTYH1 Gene

Genomics for TTYH1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TTYH1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TTYH1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TTYH1

Top Transcription factor binding sites by QIAGEN in the TTYH1 gene promoter:
  • AML1a
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • E47
  • Hand1
  • Lmo2
  • USF-1
  • USF1

Genomic Locations for TTYH1 Gene

Latest Assembly
chr19:54,415,219-54,436,904
(GRCh38/hg38)
Size:
21,686 bases
Orientation:
Plus strand

Previous Assembly
chr19:54,926,638-54,948,084
(GRCh37/hg19 by Entrez Gene)
Size:
21,447 bases
Orientation:
Plus strand

chr19:54,926,393-54,948,080
(GRCh37/hg19 by Ensembl)
Size:
21,688 bases
Orientation:
Plus strand

Alternative Locations (GRCh38/hg38)

  • chr19(ALT_REF_LOCI_1):321,982-343,428 (+)
  • chr19(ALT_REF_LOCI_7):320,158-341,592 (+)
  • chr19(ALT_REF_LOCI_9):397,752-419,198 (+)

Genomic View for TTYH1 Gene

Genes around TTYH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TTYH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TTYH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TTYH1 Gene

Proteins for TTYH1 Gene

  • Protein details for TTYH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H313-TTYH1_HUMAN
    Recommended name:
    Protein tweety homolog 1
    Protein Accession:
    Q9H313
    Secondary Accessions:
    • B0VJY3
    • B0VJY4
    • B0VJY5
    • B2VAL9
    • Q5U682
    • Q68A17
    • Q6L750
    • Q6ZTE5
    • Q8WUU2

    Protein attributes for TTYH1 Gene

    Size:
    450 amino acids
    Molecular mass:
    49051 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TTYH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TTYH1 Gene

Post-translational modifications for TTYH1 Gene

  • Glycosylation at Asn130, Asn284, Asn205, and Asn355
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TTYH1 Gene

Domains & Families for TTYH1 Gene

Gene Families for TTYH1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for TTYH1 Gene

InterPro:

Suggested Antigen Peptide Sequences for TTYH1 Gene

GenScript: Design optimal peptide antigens:
  • Tweety homolog 1 (Drosophila) (B0VJY6_HUMAN)
  • Protein tweety homolog 1 (TTYH1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H313

UniProtKB/Swiss-Prot:

TTYH1_HUMAN :
  • Belongs to the tweety family.
Family:
  • Belongs to the tweety family.
genes like me logo Genes that share domains with TTYH1: view

Function for TTYH1 Gene

Molecular function for TTYH1 Gene

UniProtKB/Swiss-Prot Function:
Probable chloride channel. May be involved in cell adhesion (By similarity).
UniProtKB/Swiss-Prot Function:
Isoform 3 may be a Ca(2+)-independent and swelling-activated chloride channel, possibly involved in regulation of cell volume.

Phenotypes From GWAS Catalog for TTYH1 Gene

Gene Ontology (GO) - Molecular Function for TTYH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005229 intracellular calcium activated chloride channel activity IBA 21873635
GO:0005254 chloride channel activity TAS --
GO:0005381 iron ion transmembrane transporter activity NAS 10950931
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 28298427
genes like me logo Genes that share ontologies with TTYH1: view
genes like me logo Genes that share phenotypes with TTYH1: view

Animal Models for TTYH1 Gene

MGI Knock Outs for TTYH1:

Animal Models for research

  • Taconic Biosciences Mouse Models for TTYH1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TTYH1

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TTYH1 Gene

Localization for TTYH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TTYH1 Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TTYH1 gene
Compartment Confidence
plasma membrane 4
endoplasmic reticulum 3
extracellular 2
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TTYH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane TAS 10950931
GO:0030868 smooth endoplasmic reticulum membrane IBA 21873635
GO:0031527 filopodium membrane IEA --
genes like me logo Genes that share ontologies with TTYH1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TTYH1 Gene

Pathways & Interactions for TTYH1 Gene

genes like me logo Genes that share pathways with TTYH1: view

Pathways by source for TTYH1 Gene

Gene Ontology (GO) - Biological Process for TTYH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle IEA --
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IDA 16219661
GO:0006826 iron ion transport NAS 10950931
GO:0007155 cell adhesion IEA --
genes like me logo Genes that share ontologies with TTYH1: view

No data available for SIGNOR curated interactions for TTYH1 Gene

Drugs & Compounds for TTYH1 Gene

(1) Drugs for TTYH1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Chloride ion Experimental Pharma 0
genes like me logo Genes that share compounds with TTYH1: view

Transcripts for TTYH1 Gene

mRNA/cDNA for TTYH1 Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TTYH1

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for TTYH1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a ·
SP1: -
SP2: - - - - -
SP3: - -
SP4: -
SP5: -
SP6: - -
SP7:
SP8: -
SP9: - - - -
SP10:

ExUns: 17b ^ 18a · 18b · 18c
SP1: -
SP2:
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for TTYH1 Gene

GeneLoc Exon Structure for
TTYH1

Expression for TTYH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TTYH1 Gene

mRNA differential expression in normal tissues according to GTEx for TTYH1 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x5.8), Brain - Amygdala (x5.4), Brain - Caudate (basal ganglia) (x5.4), and Brain - Nucleus accumbens (basal ganglia) (x5.3).

Protein differential expression in normal tissues from HIPED for TTYH1 Gene

This gene is overexpressed in Frontal cortex (23.1), Cervix (19.5), Spinal cord (10.6), and Retina (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TTYH1 Gene



Protein tissue co-expression partners for TTYH1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TTYH1

SOURCE GeneReport for Unigene cluster for TTYH1 Gene:

Hs.268728

mRNA Expression by UniProt/SwissProt for TTYH1 Gene:

Q9H313-TTYH1_HUMAN
Tissue specificity: Expressed in brain, eye, ovary and testis, and at lower levels in muscle, placenta, liver and lung.

Evidence on tissue expression from TISSUES for TTYH1 Gene

  • Nervous system(5)
genes like me logo Genes that share expression patterns with TTYH1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TTYH1 Gene

Orthologs for TTYH1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TTYH1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TTYH1 29 30
  • 99.19 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TTYH1 29 30
  • 91.04 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TTYH1 29 30
  • 90.96 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ttyh1 29
  • 86.89 (n)
Mouse
(Mus musculus)
Mammalia Ttyh1 29 16 30
  • 86.89 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TTYH1 30
  • 67 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TTYH1 30
  • 66 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TTYH1 30
  • 45 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ttyh1 29
  • 65.75 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.18813 29
Zebrafish
(Danio rerio)
Actinopterygii LOC100537642 29
  • 56.98 (n)
ttyh1 30
  • 35 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG3638 30
  • 16 (a)
ManyToMany
tty 30
  • 11 (a)
ManyToMany
Species where no ortholog for TTYH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for TTYH1 Gene

ENSEMBL:
Gene Tree for TTYH1 (if available)
TreeFam:
Gene Tree for TTYH1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TTYH1: view image
Alliance of Genome Resources:
Additional Orthologs for TTYH1

Paralogs for TTYH1 Gene

Paralogs for TTYH1 Gene

(2) SIMAP similar genes for TTYH1 Gene using alignment to 6 proteins:

  • TTYH1_HUMAN
  • C9J3K6_HUMAN
  • E7ET67_HUMAN
  • F8WBE6_HUMAN
  • G8JLI0_HUMAN
  • M0R1D3_HUMAN
genes like me logo Genes that share paralogs with TTYH1: view

Variants for TTYH1 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TTYH1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TTYH1 Gene

Variant ID Type Subtype PubMed ID
dgv3663n100 CNV gain 25217958
esv2758771 CNV gain+loss 17122850
nsv1114035 CNV deletion 24896259
nsv1148744 OTHER inversion 26484159
nsv2550 CNV insertion 18451855
nsv2551 CNV insertion 18451855
nsv833878 CNV loss 17160897
nsv953617 CNV deletion 24416366
nsv9756 CNV gain 18304495

Variation tolerance for TTYH1 Gene

Residual Variation Intolerance Score: 68.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.09; 38.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TTYH1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TTYH1
Leiden Open Variation Database (LOVD)
TTYH1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TTYH1 Gene

Disorders for TTYH1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for TTYH1 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
Search TTYH1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TTYH1

genes like me logo Genes that share disorders with TTYH1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TTYH1 Gene

Publications for TTYH1 Gene

  1. A novel human Cl(-) channel family related to Drosophila flightless locus. (PMID: 15010458) Suzuki M … Mizuno A (The Journal of biological chemistry 2004) 3 4 22
  2. Human and mouse homologues of the Drosophila melanogaster tweety (tty) gene: a novel gene family encoding predicted transmembrane proteins. (PMID: 10950931) Campbell HD … Young IG (Genomics 2000) 2 3 4
  3. Expression and evolution of the mammalian brain gene Ttyh1. (PMID: 17116230) Matthews CA … Campbell HD (Journal of neurochemistry 2007) 4 22
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Systematic protein-protein interaction mapping for clinically relevant human GPCRs. (PMID: 28298427) Sokolina K … Stagljar I (Molecular systems biology 2017) 3

Products for TTYH1 Gene

Sources for TTYH1 Gene