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    TTYH1 tweety family member 1 [ Homo sapiens (human) ]

    Gene ID: 57348, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TTYH1provided by HGNC
    Official Full Name
    tweety family member 1provided by HGNC
    Primary source
    HGNC:HGNC:13476
    See related
    Ensembl:ENSG00000167614 MIM:605784; AllianceGenome:HGNC:13476
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    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]
    Expression
    Biased expression in brain (RPKM 71.7) and testis (RPKM 20.0) See more
    Orthologs
    mouse all
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    Genomic context

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    See TTYH1 in Genome Data Viewer
    Location:
    19q13.42
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (54415464..54436904)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (57508741..57530183)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (54926638..54948084)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak3554 silencer Neighboring gene leukocyte immunoglobulin like receptor A4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54868647-54869166 Neighboring gene leukocyte associated immunoglobulin like receptor 1 Neighboring gene NANOG hESC enhancer GRCh37_chr19:54903053-54903600 Neighboring gene LIM domain-containing protein A-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54933359-54934162 Neighboring gene Sharpr-MPRA regulatory region 3780 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:54960127-54961034 Neighboring gene LENG8 antisense RNA 1 Neighboring gene leukocyte receptor cluster member 8 Neighboring gene leukocyte receptor cluster member 9

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Human and mouse homologues of the Drosophila melanogaster tweety (tty) gene: a novel gene family encoding predicted transmembrane proteins. Campbell HD, et al. Genomics, 2000 Aug 15. PMID 10950931
    2. Tweety-Homolog 1 Drives Brain Colonization of Gliomas. Jung E, et al. J Neurosci, 2017 Jul 19. PMID 28607172, Free PMC Article
    3. Validation of analytical breast cancer microarray analysis in medical laboratory. Darweesh AS, et al. Med Oncol, 2014 Oct. PMID 25182704
    4. Fusion of TTYH1 with the C19MC microRNA cluster drives expression of a brain-specific DNMT3B isoform in the embryonal brain tumor ETMR. Kleinman CL, et al. Nat Genet, 2014 Jan. PMID 24316981
    5. Cryo-EM structures of the TTYH family reveal a novel architecture for lipid interactions. Sukalskaia A, et al. Nat Commun, 2021 Aug 12. PMID 34385445, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Drosophila tweety facilitates autophagy to regulate mitochondrial homeostasis and bioenergetics in Glia.
      Title: Drosophila tweety facilitates autophagy to regulate mitochondrial homeostasis and bioenergetics in Glia.
    2. Cryo-EM structures of the TTYH family reveal a novel architecture for lipid interactions.
      Title: Cryo-EM structures of the TTYH family reveal a novel architecture for lipid interactions.
    3. In this report, we identify tweety-homolog 1 (Ttyh1), a membrane protein linked to neuronal development, as a potent driver of tumor microtube (TM)-mediated brain colonization by glioma cells.
      Title: Tweety-Homolog 1 Drives Brain Colonization of Gliomas.
    4. TTYH1 was not expressed in either the malignant or the control samples
      Title: Validation of analytical breast cancer microarray analysis in medical laboratory.
    5. Fusion of TTYH1 with the C19MC microRNA cluster drives expression of a brain-specific DNMT3B isoform in the embryonal brain tumor.
      Title: Fusion of TTYH1 with the C19MC microRNA cluster drives expression of a brain-specific DNMT3B isoform in the embryonal brain tumor ETMR.
    6. Nedd4-2 differentially interacts with and regulates TTYH1-3
      Title: The ubiquitin-protein ligase Nedd4-2 differentially interacts with and regulates members of the Tweety family of chloride ion channels.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    NOT enables chloride channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables chloride channel activity TAS
    Traceable Author Statement
    more info
    		  
    enables intracellularly calcium-gated chloride channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables iron ion transmembrane transporter activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    NOT enables volume-sensitive anion channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables volume-sensitive chloride channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables volume-sensitive chloride channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in L-glutamate transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cell-cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell-substrate adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chloride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chloride transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in filopodium assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in iron ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in iron ion transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in monoatomic ion transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    part_of chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in filopodium membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in filopodium tip IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in smooth endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein tweety homolog 1
    Names
    hTTY1
    tweety homolog 1
    volume-regulated anion channel subunit TTYH1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001005367.3 → NP_001005367.1  protein tweety homolog 1 isoform 2

      See identical proteins and their annotated locations for NP_001005367.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), also known as hTTYH1s, encodes the longest isoform (2).
      Source sequence(s)
      AB188496, AC245884, AF177909, AK289468, BU737336
      Consensus CDS
      CCDS33106.1
      UniProtKB/Swiss-Prot
      Q9H313
      Related
      ENSP00000365714.3, ENST00000376531.3
      Conserved Domains (1) summary
      cd07912
      Location:6 → 425
      Tweety_N; N-terminal domain of the protein encoded by the Drosophila tweety gene and related proteins, a family of chloride ion channels

    2. NM_001201461.2 → NP_001188390.1  protein tweety homolog 1 isoform 3

      See identical proteins and their annotated locations for NP_001188390.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice junction at the 5' end of an exon and contains an alternate exon compared to variant 2, that causes a frameshift. The resulting isoform (1) has a shorter and distinct C-terminus compared to isoform 2.
      Source sequence(s)
      AB188496, AC245884, BU737336
      Consensus CDS
      CCDS56102.1
      UniProtKB/Swiss-Prot
      Q9H313
      Related
      ENSP00000301194.4, ENST00000301194.8
      Conserved Domains (1) summary
      cd07912
      Location:6 → 422
      Tweety_N; N-terminal domain of the protein encoded by the Drosophila tweety gene and related proteins, a family of chloride ion channels

    3. NM_020659.4 → NP_065710.1  protein tweety homolog 1 isoform 1

      See identical proteins and their annotated locations for NP_065710.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) contains an alternate exon compared to variant 2, that causes a frameshift. The resulting isoform (1) has a shorter and distinct C-terminus compared to isoform 2.
      Source sequence(s)
      AB188496, AC245884, AF177909, BU737336
      Consensus CDS
      CCDS12893.1
      UniProtKB/Swiss-Prot
      B0VJY3, B0VJY4, B0VJY5, B2VAL9, Q5U682, Q68A17, Q6L750, Q6ZTE5, Q8WUU2, Q9H313
      Related
      ENSP00000365713.3, ENST00000376530.8
      Conserved Domains (1) summary
      cd07912
      Location:6 → 422
      Tweety_N; N-terminal domain of the protein encoded by the Drosophila tweety gene and related proteins, a family of chloride ion channels

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      54415464..54436904
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003571054.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      321982..343428
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NW_003571060.1 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      320158..341592
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_9

    Genomic

    1. NT_187693.1 Reference GRCh38.p14 ALT_REF_LOCI_9

      Range
      397752..419198
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      57508741..57530183
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H313.1 GenPept UniProtKB/Swiss-Prot:Q9H313

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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