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Aliases for TTYH1 Gene

Aliases for TTYH1 Gene

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

External Ids for TTYH1 Gene

Previous GeneCards Identifiers for TTYH1 Gene

  • GC19P055789
  • GC19P055351
  • GC19P059602
  • GC19P059618
  • GC19P054926
  • GC19P051250

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. 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. 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 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 Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TTYH1 Gene

Genomics for TTYH1 Gene

Regulatory Elements for TTYH1 Gene

Enhancers for TTYH1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F054325 0.9 Ensembl ENCODE 12.5 -89.6 -89619 1.2 CTCF ZNF654 ESRRA TRIM22 EBF1 REST RAD21 GABPA RARA ZNF143 TTYH1 VN1R104P ENSG00000250507
GH19F054351 1.1 Ensembl ENCODE 12.2 -63.0 -63039 2.0 SMARCA4 POLR2A IKZF1 TTYH1 ENSG00000227407 TMC4 GC19M054352 LILRA4
GH19F054316 1.1 Ensembl ENCODE 12.1 -98.1 -98104 1.8 CTCF RFX1 SMAD5 POLR2A MAX BMI1 GABPA LILRB2 TTYH1 ENSG00000227407 LILRB5 ENSG00000249189 LILRA6 LILRB3 LILRA5 VN1R104P
GH19F054318 1.2 FANTOM5 Ensembl ENCODE 12.1 -96.3 -96318 1.4 MTA2 ATF3 EED IKZF1 TARDBP NBN CREM SPI1 LILRB2 LILRB3 LAIR1 LILRA6 TTYH1 ENSG00000227407 LILRB5 ENSG00000249189 CNOT3 ENSG00000237017
GH19F054312 0.4 ENCODE 12.1 -102.6 -102589 1.0 SPI1 TTYH1 ENSG00000227407 LILRB2 LILRB5 ENSG00000249189 LILRA6 LILRB3 LILRA5 ENSG00000234436
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around TTYH1 on UCSC Golden Path with GeneCards custom track

Promoters for TTYH1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001818866 481 601 CTCF MAZ SCRT2 EZH2

Genomic Location for TTYH1 Gene

Chromosome:
19
Start:
54,415,219 bp from pter
End:
54,436,900 bp from pter
Size:
21,682 bases
Orientation:
Plus strand

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 Asn 130, Asn 205, Asn 284, and Asn 355
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TTYH1 Gene

Domains & Families for TTYH1 Gene

Protein Domains for TTYH1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TTYH1 Gene

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

No data available for Gene Families for TTYH1 Gene

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.

Gene Ontology (GO) - Molecular Function for TTYH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005254 chloride channel activity TAS --
GO:0005381 iron ion transmembrane transporter activity NAS 10950931
GO:0005509 calcium ion binding IEA --
GO:0072320 volume-sensitive chloride channel activity IDA 16219661
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 Model Products

  • Taconic Biosciences Mouse Models for TTYH1

Flow Cytometry Products

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
Jensen Localization Image for TTYH1 Gene COMPARTMENTS Subcellular localization image for TTYH1 gene
Compartment Confidence
plasma membrane 3
extracellular 2
endoplasmic reticulum 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 IEA --
GO:0031527 filopodium membrane IEA --
genes like me logo Genes that share ontologies with TTYH1: view

Pathways & Interactions for TTYH1 Gene

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

Pathways by source for TTYH1 Gene

Interacting Proteins for TTYH1 Gene

Gene Ontology (GO) - Biological Process for TTYH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IDA 16219661
GO:0006826 iron ion transport NAS 10950931
GO:0007067 mitotic nuclear division 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) Additional Compounds for TTYH1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
genes like me logo Genes that share compounds with TTYH1: view

Transcripts for TTYH1 Gene

Unigene Clusters for TTYH1 Gene

Tweety homolog 1 (Drosophila):
Representative Sequences:

Flow Cytometry Products

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
ECgene alternative splicing isoforms 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

NURSA nuclear receptor signaling pathways regulating expression of TTYH1 Gene:

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.
genes like me logo Genes that share expression patterns with TTYH1: view

Primer Products

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 34 35
  • 99.19 (n)
dog
(Canis familiaris)
Mammalia TTYH1 34 35
  • 91.04 (n)
cow
(Bos Taurus)
Mammalia TTYH1 34 35
  • 90.96 (n)
mouse
(Mus musculus)
Mammalia Ttyh1 34 16 35
  • 86.89 (n)
rat
(Rattus norvegicus)
Mammalia Ttyh1 34
  • 86.89 (n)
oppossum
(Monodelphis domestica)
Mammalia TTYH1 35
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TTYH1 35
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TTYH1 35
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ttyh1 34
  • 65.75 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.18813 34
zebrafish
(Danio rerio)
Actinopterygii LOC100537642 34
  • 56.98 (n)
ttyh1 35
  • 35 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG3638 35
  • 16 (a)
ManyToMany
tty 35
  • 11 (a)
ManyToMany
Species where no ortholog for TTYH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for TTYH1 Gene

Paralogs for TTYH1 Gene

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

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

Variants for TTYH1 Gene

Sequence variations from dbSNP and Humsavar for TTYH1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs112772247 -- 54,413,705(+) CACCA(A/C/T)CATCA upstream-variant-2KB
rs112896854 -- 54,413,745(+) ATCAT(A/C)ATTAT upstream-variant-2KB
rs118098945 -- 54,413,776(+) TAATC(A/T)TGTCT upstream-variant-2KB
rs138461853 -- 54,413,907(+) CCACC(A/C)CCTCC upstream-variant-2KB
rs138488924 -- 54,413,765(+) ACATG(C/T)CAACA upstream-variant-2KB

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)

Relevant External Links for TTYH1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TTYH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTYH1 Gene

Disorders for TTYH1 Gene

Relevant External Links for TTYH1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TTYH1

No disorders were found for TTYH1 Gene.

No data available for MalaCards , 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. (J. Biol. Chem. 2004) 3 4 22 64
  2. Human and mouse homologues of the Drosophila melanogaster tweety (tty) gene: a novel gene family encoding predicted transmembrane proteins. (PMID: 10950931) Campbell H.D. … Young I.G. (Genomics 2000) 2 3 4 64
  3. Expression and evolution of the mammalian brain gene Ttyh1. (PMID: 17116230) Matthews C.A. … Campbell H.D. (J. Neurochem. 2007) 4 22 64
  4. Validation of analytical breast cancer microarray analysis in medical laboratory. (PMID: 25182704) Darweesh A.S. … Kassim S.K. (Med. Oncol. 2014) 3 64
  5. Fusion of TTYH1 with the C19MC microRNA cluster drives expression of a brain-specific DNMT3B isoform in the embryonal brain tumor ETMR. (PMID: 24316981) Kleinman C.L. … Jabado N. (Nat. Genet. 2014) 3 64

Products for TTYH1 Gene

Sources for TTYH1 Gene

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