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    TMEM223 transmembrane protein 223 [ Homo sapiens (human) ]

    Gene ID: 79064, updated on 3-Nov-2024

    Summary

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    Official Symbol
    TMEM223provided by HGNC
    Official Full Name
    transmembrane protein 223provided by HGNC
    Primary source
    HGNC:HGNC:28464
    See related
    Ensembl:ENSG00000168569 MIM:620434; AllianceGenome:HGNC:28464
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Mrx15
    Summary
    Enables mitochondrial ribosome binding activity. Involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrion. Is active in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in prostate (RPKM 7.7), colon (RPKM 7.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM223 in Genome Data Viewer
    Location:
    11q12.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (62771120..62792006, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (62760439..62781398, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (62557443..62559478, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62520285-62521162 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62522043-62522920 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62524299-62524825 Neighboring gene zinc finger and BTB domain containing 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4844 Neighboring gene RNA polymerase II subunit G Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4845 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3429 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4846 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4847 Neighboring gene TATA-box binding protein associated factor 6 like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4848 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3430 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4849 Neighboring gene transmembrane protein 179B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3431 Neighboring gene microRNA 6748 Neighboring gene microRNA 6514 Neighboring gene nuclear RNA export factor 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:62572705-62573204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4850 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4851 Neighboring gene syntaxin 5 Neighboring gene RNA, U6 small nuclear 118, pseudogene

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Defining the interactome of the human mitochondrial ribosome identifies SMIM4 and TMEM223 as respiratory chain assembly factors.
      Title: Defining the interactome of the human mitochondrial ribosome identifies SMIM4 and TMEM223 as respiratory chain assembly factors.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    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

    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

    Clone Names

    • MGC3196

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables mitochondrial ribosome binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial cytochrome c oxidase assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transmembrane protein 223

    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_001080501.3 → NP_001073970.1  transmembrane protein 223

      See identical proteins and their annotated locations for NP_001073970.1

      Status: VALIDATED

      Source sequence(s)
      AP001160, BC020914, BU684551
      Consensus CDS
      CCDS44628.1
      UniProtKB/Swiss-Prot
      A0PJW6, Q504S0, Q86YD4, Q8WUC5, Q96HG0
      Related
      ENSP00000303987.7, ENST00000307366.8
      Conserved Domains (1) summary
      pfam14640
      Location:32 → 200
      TMEM223; Transmembrane protein 223

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      62771120..62792006 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047427581.1 → XP_047283537.1  transmembrane protein 223 isoform X1

    2. XM_047427579.1 → XP_047283535.1  transmembrane protein 223 isoform X1

      Related
      ENSP00000431804.1, ENST00000528367.1

    3. XM_047427580.1 → XP_047283536.1  transmembrane protein 223 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      62760439..62781398 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369926.1 → XP_054225901.1  transmembrane protein 223 isoform X1

    2. XM_054369924.1 → XP_054225899.1  transmembrane protein 223 isoform X1

    3. XM_054369925.1 → XP_054225900.1  transmembrane protein 223 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_024084.1: Suppressed sequence

      Description
      NM_024084.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0PJW6.1 GenPept UniProtKB/Swiss-Prot:A0PJW6

    Gene LinkOut

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

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