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

Gene ID: 23585, updated on 2-Oct-2018

Summary

Official Symbol
TMEM50Aprovided by HGNC
Official Full Name
transmembrane protein 50Aprovided by HGNC
Primary source
HGNC:HGNC:30590
See related
Ensembl:ENSG00000183726 MIM:605348; Vega:OTTHUMG00000007651
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

Genomic context

See TMEM50A in Genome Data Viewer
Location:
1p36.11
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (25338298..25362361)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (25664789..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 Rh blood group CcEe antigens Neighboring gene succinate dehydrogenase complex subunit D pseudogene 7 Neighboring gene macoilin 1

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
late endosome to vacuole transport via multivesicular body sorting pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
glial cell projection IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
transmembrane protein 50A
Names
cervical cancer oncogene 9
small membrane protein 1

NCBI Reference Sequences (RefSeq)

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_014313.3NP_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
    Q7RU07
    Related
    ENSP00000363478.4, OTTHUMP00000008981, ENST00000374358.4, OTTHUMT00000020313
    Conserved Domains (1) summary
    pfam05255
    Location:9156
    UPF0220; uncharacterized protein family (UPF0220)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    25338298..25362361
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for XP_005245874.1

    UniProtKB/TrEMBL
    B7Z5M7
    Conserved Domains (1) summary
    pfam05255
    Location:9125
    UPF0220; Uncharacterized protein family (UPF0220)
  2. XM_011541159.2XP_011539461.1  transmembrane protein 50A isoform X1

    See identical proteins and their annotated locations for XP_011539461.1

    UniProtKB/Swiss-Prot
    O95807
    UniProtKB/TrEMBL
    Q7RU07
    Conserved Domains (1) summary
    pfam05255
    Location:9156
    UPF0220; uncharacterized protein family (UPF0220)
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