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    Cltrn collectrin, amino acid transport regulator [ Mus musculus (house mouse) ]

    Gene ID: 57394, updated on 9-Dec-2024

    Summary

    Official Symbol
    Cltrnprovided by MGI
    Official Full Name
    collectrin, amino acid transport regulatorprovided by MGI
    Primary source
    MGI:MGI:1926234
    See related
    Ensembl:ENSMUSG00000015401 AllianceGenome:MGI:1926234
    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
    NX17; NX-17; Tmem27; 0610008J07Rik
    Summary
    Enables protein homodimerization activity. Acts upstream of or within positive regulation of amino acid transport. Located in brush border membrane. Is expressed in genitourinary system. Orthologous to human CLTRN (collectrin, amino acid transport regulator). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward kidney adult (RPKM 72.1) See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Cltrn in Genome Data Viewer
    Location:
    X F5; X 76.12 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (162873183..162901855)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (164090187..164118859)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 38561 Neighboring gene carbonic anhydrase 5b, mitochondrial Neighboring gene STARR-positive B cell enhancer ABC_E1986 Neighboring gene siah E3 ubiquitin protein ligase 1B Neighboring gene STARR-seq mESC enhancer starr_48236 Neighboring gene angiotensin converting enzyme 2 Neighboring gene BMX non-receptor tyrosine kinase Neighboring gene predicted gene, 19251

    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 (6)  1 citation

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in brush border membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    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 ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    collectrin
    Names
    kidney-specific membrane protein
    transmembrane protein 27

    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_001313719.1NP_001300648.1  collectrin isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in place of the first two exons and lacks an alternate internal in-frame exon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus and lacks an alternate internal segment compared to isoform 1.
      Source sequence(s)
      AK148534, AL732294
      UniProtKB/Swiss-Prot
      Q9ESG4
      Conserved Domains (1) summary
      pfam16959
      Location:158
      Collectrin; Renal amino acid transporter
    2. NM_020626.2NP_065651.1  collectrin isoform 1 precursor

      See identical proteins and their annotated locations for NP_065651.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL732294
      Consensus CDS
      CCDS30517.1
      UniProtKB/Swiss-Prot
      Q3UFF6, Q9ESG4
      Related
      ENSMUSP00000015545.4, ENSMUST00000015545.10
      Conserved Domains (1) summary
      pfam16959
      Location:24171
      Collectrin; Renal amino acid 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_000086.8 Reference GRCm39 C57BL/6J

      Range
      162873183..162901855
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)