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    TMEM50A transmembrane protein 50A [ Homo sapiens (human) ]

    Gene ID: 23585, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TMEM50Aprovided by HGNC
    Official Full Name
    transmembrane protein 50Aprovided by HGNC
    Primary source
    HGNC:HGNC:30590
    See related
    Ensembl:ENSG00000183726 MIM:605348; AllianceGenome:HGNC:30590
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SMP1; IFNRC
    Summary
    This gene is located in the RH gene locus, between the RHD and RHCE genes. The function of its protein product is unknown; however, its sequence has potential transmembrane domains suggesting that it may be an integral membrane protein. Its position between the RH genes suggests that polymorphisms in this gene may be tightly linked to RH haplotypes and may contribute to selective pressure for or against certain RH haplotypes. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in adrenal (RPKM 38.4), colon (RPKM 34.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM50A in Genome Data Viewer
    Location:
    1p36.11
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (25338334..25362361)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (25174601..25198659)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (25664825..25688852)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene arginine and serine rich protein 1 Neighboring gene uncharacterized LOC105376882 Neighboring gene Rh blood group D antigen Neighboring gene succinate dehydrogenase complex subunit D pseudogene 6 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:25649146-25649874 Neighboring gene downstream Rhesus box Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:25661249-25661779 Neighboring gene Sharpr-MPRA regulatory region 4019 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 453 Neighboring gene uncharacterized LOC124904723 Neighboring gene MPRA-validated peak126 silencer Neighboring gene small nucleolar RNA U13 Neighboring gene MPRA-validated peak127 silencer Neighboring gene Rh blood group CcEe antigens Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:25740333-25740834 Neighboring gene succinate dehydrogenase complex subunit D pseudogene 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 454 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 455 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 457 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 458 Neighboring gene macoilin 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Preliminary study on the function of TMEM50A and its correlation with the RH genes. Chen H, et al. Transfus Med, 2021 Aug. PMID 33899290
    2. Molecular genetics of RH. Flegel WA, et al. Vox Sang, 2000. PMID 10938938
    3. RHD gene deletion occurred in the Rhesus box. Wagner FF, et al. Blood, 2000 Jun 15. PMID 10845894
    4. RHCE represents the ancestral RH position, while RHD is the duplicated gene. Wagner FF, et al. Blood, 2002 Mar 15. PMID 11902138
    5. Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate. Kullo IJ, et al. Am J Hum Genet, 2011 Jul 15. PMID 21700265, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		  
    located_in glial cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 50A
    Names
    cervical cancer oncogene 9
    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_014313.4 → NP_055128.1  transmembrane protein 50A

      See identical proteins and their annotated locations for NP_055128.1

      Status: REVIEWED

      Source sequence(s)
      AI968279, AL928711, BC066908, CX867650
      Consensus CDS
      CCDS264.1
      UniProtKB/Swiss-Prot
      O95807
      UniProtKB/TrEMBL
      B2R6I5, Q7RU07
      Related
      ENSP00000363478.4, ENST00000374358.5
      Conserved Domains (1) summary
      pfam05255
      Location:9 → 156
      UPF0220; uncharacterized protein family (UPF0220)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      25338334..25362361
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011541159.3 → XP_011539461.1  transmembrane protein 50A isoform X1

      See identical proteins and their annotated locations for XP_011539461.1

      UniProtKB/Swiss-Prot
      O95807
      UniProtKB/TrEMBL
      B2R6I5, Q7RU07
      Conserved Domains (1) summary
      pfam05255
      Location:9 → 156
      UPF0220; uncharacterized protein family (UPF0220)

    2. XM_047416632.1 → XP_047272588.1  transmembrane protein 50A isoform X2

      UniProtKB/TrEMBL
      B2R6I5, B7Z5M7

    3. XM_005245817.1 → XP_005245874.1  transmembrane protein 50A isoform X2

      See identical proteins and their annotated locations for XP_005245874.1

      UniProtKB/TrEMBL
      B2R6I5, B7Z5M7
      Conserved Domains (1) summary
      pfam05255
      Location:9 → 125
      UPF0220; Uncharacterized protein family (UPF0220)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      25174601..25198659
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335723.1 → XP_054191698.1  transmembrane protein 50A isoform X1

      UniProtKB/Swiss-Prot
      O95807
      UniProtKB/TrEMBL
      B2R6I5, Q7RU07

    2. XM_054335725.1 → XP_054191700.1  transmembrane protein 50A isoform X2

      UniProtKB/TrEMBL
      B2R6I5, B7Z5M7

    3. XM_054335724.1 → XP_054191699.1  transmembrane protein 50A isoform X2

      UniProtKB/TrEMBL
      B2R6I5, B7Z5M7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95807.1 GenPept UniProtKB/Swiss-Prot:O95807

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