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    Tmem50a transmembrane protein 50A [ Mus musculus (house mouse) ]

    Gene ID: 71817, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Tmem50aprovided by MGI
    Official Full Name
    transmembrane protein 50Aprovided by MGI
    Primary source
    MGI:MGI:1919067
    See related
    Ensembl:ENSMUSG00000028822 AllianceGenome:MGI:1919067
    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
    CAM; Smp1; 3200001F09Rik
    Summary
    Predicted to be involved in late endosome to vacuole transport via multivesicular body sorting pathway. Located in cytoplasm; glial cell projection; and neuronal cell body. Orthologous to human TMEM50A (transmembrane protein 50A). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 53.1), bladder adult (RPKM 51.4) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Tmem50a in Genome Data Viewer
    Location:
    4 D3; 4 67.14 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (134625160..134642307, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (134897849..134915028, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_11688 Neighboring gene macoilin 1 Neighboring gene STARR-positive B cell enhancer ABC_E2718 Neighboring gene STARR-positive B cell enhancer ABC_E4682 Neighboring gene STARR-seq mESC enhancer starr_11693 Neighboring gene Rh blood group, D antigen Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:134474397-134474585 Neighboring gene STARR-positive B cell enhancer ABC_E6231 Neighboring gene STARR-positive B cell enhancer ABC_E8812 Neighboring gene STARR-seq mESC enhancer starr_11694 Neighboring gene arginine/serine rich protein 1 Neighboring gene SYF2 homolog, RNA splicing factor (S. cerevisiae)

    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. Molecular cloning of the mouse cell adhesion molecule uvomorulin: cDNA contains a B1-related sequence. Schuh R, et al. Proc Natl Acad Sci U S A, 1986 Mar. PMID 2419906, Free PMC Article
    2. Entire sequence of a mouse chromosomal segment containing the gene Rhced and a comparative analysis of the homologous human sequence. Kumada M, et al. Gene, 2002 Oct 16. PMID 12459264
    3. Transmembrane protein 50b (C21orf4), a candidate for Down syndrome neurophenotypes, encodes an intracellular membrane protein expressed in the rodent brain. Moldrich RX, et al. Neuroscience, 2008 Jul 17. PMID 18541381
    4. Analysis of early nephron patterning reveals a role for distal RV proliferation in fusion to the ureteric tip via a cap mesenchyme-derived connecting segment. Georgas K, et al. Dev Biol, 2009 Aug 15. PMID 19501082
    5. A mouse knockout library for secreted and transmembrane proteins. Tang T, et al. Nat Biotechnol, 2010 Jul. PMID 20562862

    See all (18) 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)

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in late endosome to vacuole transport via multivesicular body sorting pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in glial cell projection IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in neuronal cell body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transmembrane protein 50A
    Names
    small membrane protein 1

    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_001419209.1 → NP_001406138.1  transmembrane protein 50A isoform a

      Status: VALIDATED

      Source sequence(s)
      AL611963
      UniProtKB/Swiss-Prot
      Q9CXL1
      UniProtKB/TrEMBL
      Q52KP1
      Related
      ENSMUSP00000101489.2, ENSMUST00000105863.2

    2. NM_001419210.1 → NP_001406139.1  transmembrane protein 50A isoform b

      Status: VALIDATED

      Source sequence(s)
      AL611963

    3. NM_001419211.1 → NP_001406140.1  transmembrane protein 50A isoform b

      Status: VALIDATED

      Source sequence(s)
      AL611963

    4. NM_001419212.1 → NP_001406141.1  transmembrane protein 50A isoform c

      Status: VALIDATED

      Source sequence(s)
      AL611963

    5. NM_027935.3 → NP_082211.1  transmembrane protein 50A isoform 1

      See identical proteins and their annotated locations for NP_082211.1

      Status: VALIDATED

      Source sequence(s)
      AL611963
      Consensus CDS
      CCDS18779.1
      UniProtKB/Swiss-Prot
      Q9CXL1
      UniProtKB/TrEMBL
      Q52KP1
      Related
      ENSMUSP00000030626.6, ENSMUST00000030626.12
      Conserved Domains (1) summary
      pfam05255
      Location:8 → 156
      UPF0220; Uncharacterized protein family (UPF0220)

    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_000070.7 Reference GRCm39 C57BL/6J

      Range
      134625160..134642307 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9CXL1.1 GenPept UniProtKB/Swiss-Prot:Q9CXL1

    Gene LinkOut

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

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