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

Gene ID: 23585, updated on 2-Nov-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
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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 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)

Genotypes

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
    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
    Q7RU07

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

    UniProtKB/TrEMBL
    B7Z5M7

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

    UniProtKB/TrEMBL
    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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