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    Ttyh1 tweety family member 1 [ Mus musculus (house mouse) ]

    Gene ID: 57776, updated on 6-Sep-2021

    Summary

    Official Symbol
    Ttyh1provided by MGI
    Official Full Name
    tweety family member 1provided by MGI
    Primary source
    MGI:MGI:1889007
    See related
    Ensembl:ENSMUSG00000030428
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    tty; TTY1; mTTY1; 4930459B04Rik; 6330408P11Rik
    Summary
    This gene encodes a member of the Tweety family of membrane proteins. Members of this family contain five predicted transmembrane regions that are arranged in a characteristic pattern. In mouse, the protein is predominantly localized to the endoplasmic reticulum and displays calcium binding activity. Targeted knock out of this gene results in early embryonic lethality prior to the blastocyst stage. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
    Expression
    Biased expression in cortex adult (RPKM 116.7), frontal lobe adult (RPKM 114.2) and 7 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Ttyh1 in Genome Data Viewer
    Location:
    7; 7 A1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (4122418..4139206)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (4119530..4135407)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 7 NC_000073.5 (4071135..4087843)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene leukocyte-associated Ig-like receptor 1 Neighboring gene RIKEN cDNA 9430041J12 gene Neighboring gene predicted gene, 23741 Neighboring gene RIKEN cDNA D030047H15 gene Neighboring gene leukocyte receptor cluster (LRC) member 8 Neighboring gene leukocyte receptor cluster (LRC) member 9

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables chloride channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables intracellular calcium activated chloride channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables volume-sensitive chloride channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables volume-sensitive chloride channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in axon ISO
    Inferred from Sequence Orthology
    more info
     
    part_of chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in filopodium membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in filopodium tip IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in smooth endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in smooth endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in synapse EXP
    Inferred from Experiment
    more info
    PubMed 
    located_in synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    protein tweety homolog 1
    Names
    tweety homolog 1

    NCBI Reference Sequences (RefSeq)

    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_001001454.4NP_001001454.2  protein tweety homolog 1 isoform 1

      See identical proteins and their annotated locations for NP_001001454.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK018148, AK043998, AK081274
      Consensus CDS
      CCDS51970.1
      UniProtKB/Swiss-Prot
      Q9D3A9
      Related
      ENSMUSP00000078384.6, ENSMUST00000079415.12
      Conserved Domains (1) summary
      pfam04906
      Location:26424
      Tweety; Tweety
    2. NM_001109765.2NP_001103235.1  protein tweety homolog 1 isoform 2

      See identical proteins and their annotated locations for NP_001103235.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and uses an alternate exon in the 3' coding region that causes a frameshift compared to variant 1. It encodes isoform 2, which has a shorter and novel C-terminus compared to isoform 1. Variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AK018148, AK043998, AK081274
      Consensus CDS
      CCDS20730.1
      UniProtKB/Swiss-Prot
      Q9D3A9
      Related
      ENSMUSP00000113937.2, ENSMUST00000119661.8
      Conserved Domains (1) summary
      pfam04906
      Location:26420
      Tweety; Tweety
    3. NM_001305822.1NP_001292751.1  protein tweety homolog 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has multiple differences compared to variant 1. These differences result in use of a downstream start codon and a frameshift in the 3' coding region. It encodes isoform 3, which has a shorter N-terminus and a shorter and distinct C-terminus compared to isoform 3.
      Source sequence(s)
      AC110496, AK018148, AK042758, AK043998, AK083126
      UniProtKB/Swiss-Prot
      Q9D3A9
      Conserved Domains (1) summary
      cl12141
      Location:1255
      Tweety_N; N-terminal domain of the protein encoded by the Drosophila tweety gene and related proteins, a family of chloride ion channels
    4. NM_021324.6NP_067299.2  protein tweety homolog 1 isoform 2

      See identical proteins and their annotated locations for NP_067299.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate exon in the 3' coding region that causes a frameshift compared to variant 1. It encodes isoform 2, which has a shorter and novel C-terminus compared to isoform 1. Variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AK018148, AK043998, AK081274
      Consensus CDS
      CCDS20730.1
      UniProtKB/Swiss-Prot
      Q9D3A9
      Related
      ENSMUSP00000120182.2, ENSMUST00000129423.8
      Conserved Domains (1) summary
      pfam04906
      Location:26420
      Tweety; Tweety

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      4122418..4139206
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036153299.1XP_036009192.1  protein tweety homolog 1 isoform X1

      Conserved Domains (1) summary
      pfam04906
      Location:26424
      Tweety
    2. XM_036153301.1XP_036009194.1  protein tweety homolog 1 isoform X3

      Related
      ENSMUSP00000146131.2, ENSMUST00000206869.2
      Conserved Domains (1) summary
      cl12141
      Location:1255
      Tweety_N; N-terminal domain of the protein encoded by the Drosophila tweety gene and related proteins, a family of chloride ion channels
    3. XM_036153303.1XP_036009196.1  protein tweety homolog 1 isoform X3

      Conserved Domains (1) summary
      cl12141
      Location:1255
      Tweety_N; N-terminal domain of the protein encoded by the Drosophila tweety gene and related proteins, a family of chloride ion channels
    4. XM_036153300.1XP_036009193.1  protein tweety homolog 1 isoform X2

      Conserved Domains (1) summary
      cl12141
      Location:1259
      Tweety_N; N-terminal domain of the protein encoded by the Drosophila tweety gene and related proteins, a family of chloride ion channels
    5. XM_036153302.1XP_036009195.1  protein tweety homolog 1 isoform X3

      Conserved Domains (1) summary
      cl12141
      Location:1255
      Tweety_N; N-terminal domain of the protein encoded by the Drosophila tweety gene and related proteins, a family of chloride ion channels
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