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    Clptm1 cleft lip and palate associated transmembrane protein 1 [ Mus musculus (house mouse) ]

    Gene ID: 56457, updated on 9-Dec-2024

    Summary

    Official Symbol
    Clptm1provided by MGI
    Official Full Name
    cleft lip and palate associated transmembrane protein 1provided by MGI
    Primary source
    MGI:MGI:1927155
    See related
    Ensembl:ENSMUSG00000002981 AllianceGenome:MGI:1927155
    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
    HS9; N14
    Summary
    Enables GABA receptor binding activity. Involved in regulation of T cell differentiation in thymus. Located in external side of plasma membrane. Is expressed in lymph node; spleen white pulp; thymus cortex; thymus primordium; and thymus thin fibrous capsule. Orthologous to human CLPTM1 (CLPTM1 regulator of GABA type A receptor forward trafficking). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 72.9), colon adult (RPKM 61.5) and 28 other tissues See more
    Orthologs
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    Genomic context

    See Clptm1 in Genome Data Viewer
    Location:
    7 A3; 7 9.93 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (19365505..19398955, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (19631580..19665030, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene CLK4-associating serine/arginine rich protein Neighboring gene avian reticuloendotheliosis viral (v-rel) oncogene related B Neighboring gene STARR-positive B cell enhancer ABC_E1720 Neighboring gene STARR-positive B cell enhancer ABC_E4901 Neighboring gene apolipoprotein C2 like Neighboring gene apolipoprotein C2 Neighboring gene apolipoprotein C-IV

    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

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 
    • Targeted (1)  1 citation

    Interactions

    General gene information

    Gene Ontology Provided by MGI

    Component Evidence Code Pubs
    located_in GABA-ergic synapse  
    is_active_in GABA-ergic synapse  
    is_active_in endomembrane system  
    located_in external side of plasma membrane PubMed 
    is_active_in membrane  

    General protein information

    Preferred Names
    putative lipid scramblase CLPTM1
    Names
    cleft lip and palate transmembrane protein 1 homolog
    thymic epithelial cell surface antigen

    NCBI Reference Sequences (RefSeq)

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    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_019649.2NP_062623.2  putative lipid scramblase CLPTM1

      See identical proteins and their annotated locations for NP_062623.2

      Status: VALIDATED

      Source sequence(s)
      AI844337, AK152410, AK165742, BY288640
      Consensus CDS
      CCDS39800.1
      UniProtKB/Swiss-Prot
      O08708, Q3U758, Q3U823, Q3UG77, Q8VBZ3, Q8VEJ6
      Related
      ENSMUSP00000051293.10, ENSMUST00000055242.11
      Conserved Domains (1) summary
      pfam05602
      Location:60496
      CLPTM1; Cleft lip and palate transmembrane protein 1 (CLPTM1)

    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_000073.7 Reference GRCm39 C57BL/6J

      Range
      19365505..19398955 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006540227.1XP_006540290.1  putative lipid scramblase CLPTM1 isoform X1

      Conserved Domains (1) summary
      pfam05602
      Location:1395
      CLPTM1; Cleft lip and palate transmembrane protein 1 (CLPTM1)
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