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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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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

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