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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

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    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
    human all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Structure and promoter region of the surface membrane protein HS9 gene expressed on the thymic epithelial cells. Miyazawa H, et al. Biochim Biophys Acta, 1999 Mar 19. PMID 10095063
    2. Characterization of a 50 kDa surface membrane protein on thymic stromal cells as an important factor for early T cell development. Takeuchi T, et al. Int Immunol, 1995 Apr. PMID 7547685
    3. Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate. Yoshiura K, et al. Genomics, 1998 Dec 1. PMID 9828125
    4. Clptm1 Limits Forward Trafficking of GABA(A) Receptors to Scale Inhibitory Synaptic Strength. Ge Y, et al. Neuron, 2018 Feb 7. PMID 29395912, Free PMC Article
    5. Transgenic expression of a novel thymic epithelial cell antigen stimulates abberant development of thymocytes. Takeuchi T, et al. J Immunol, 1997 Jul 15. PMID 9218588

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GABA receptor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of T cell differentiation in thymus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of postsynaptic membrane neurotransmitter receptor levels IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of postsynaptic membrane neurotransmitter receptor levels ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in GABA-ergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in GABA-ergic synapse ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in endomembrane system IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    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_019649.2 → NP_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:60 → 496
      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_006540227.1 → XP_006540290.1  putative lipid scramblase CLPTM1 isoform X1

      Conserved Domains (1) summary
      pfam05602
      Location:1 → 395
      CLPTM1; Cleft lip and palate transmembrane protein 1 (CLPTM1)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8VBZ3.1 GenPept UniProtKB/Swiss-Prot:Q8VBZ3

    Gene LinkOut

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

    Chemical Information
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