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    Slc44a4 solute carrier family 44, member 4 [ Mus musculus (house mouse) ]

    Gene ID: 70129, updated on 9-Dec-2024

    Summary

    Official Symbol
    Slc44a4provided by MGI
    Official Full Name
    solute carrier family 44, member 4provided by MGI
    Primary source
    MGI:MGI:1917379
    See related
    Ensembl:ENSMUSG00000007034 AllianceGenome:MGI:1917379
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    NG22; mTPPT1; 2210409B01Rik
    Summary
    Enables thiamine pyrophosphate transmembrane transporter activity. Involved in thiamine pyrophosphate transmembrane transport. Predicted to be located in apical plasma membrane. Predicted to be active in plasma membrane. Is expressed in embryo. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 72. Orthologous to human SLC44A4 (solute carrier family 44 member 4). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in colon adult (RPKM 156.0), large intestine adult (RPKM 85.0) and 6 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Slc44a4 in Genome Data Viewer
    Location:
    17 B1; 17 18.46 cM
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (35133200..35149412)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (34914224..34930436)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 40706 Neighboring gene zinc finger and BTB domain containing 12 Neighboring gene euchromatic histone lysine N-methyltransferase 2 Neighboring gene STARR-positive B cell enhancer ABC_E958 Neighboring gene neuraminidase 1 Neighboring gene RIKEN cDNA 1110038B12 gene Neighboring gene small nucleolar RNA, C/D box 52

    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)
    • Endonuclease-mediated (2) 
    • Targeted (5)  1 citation

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables antiporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables choline transmembrane transporter activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables choline transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables thiamine pyrophosphate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables thiamine pyrophosphate transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables thiamine pyrophosphate transmembrane transporter activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in acetylcholine biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in acetylcholine biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in acetylcholine secretion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in acetylcholine secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in choline transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in choline transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in choline transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuromast hair cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in otolith formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cell growth ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of cell growth ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in thiamine pyrophosphate transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in thiamine pyrophosphate transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in thiamine pyrophosphate transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in apical plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in apical plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    choline transporter-like protein 4
    Names
    thiamine pyrophosphate transporter 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_023557.3NP_076046.1  choline transporter-like protein 4

      Status: VALIDATED

      Source sequence(s)
      AK145621, AK164684, AK166620
      Consensus CDS
      CCDS37591.1
      UniProtKB/Swiss-Prot
      Q7TQ02, Q91VA1, Q9CVA7
      UniProtKB/TrEMBL
      Q3ULA4
      Related
      ENSMUSP00000007249.9, ENSMUST00000007249.15
      Conserved Domains (1) summary
      pfam04515
      Location:312672
      Choline_transpo; Plasma-membrane choline transporter

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000083.7 Reference GRCm39 C57BL/6J

      Range
      35133200..35149412
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006524885.2XP_006524948.1  choline transporter-like protein 4 isoform X1

      Conserved Domains (1) summary
      pfam04515
      Location:321681
      Choline_transpo; Plasma-membrane choline transporter