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TMEM223 transmembrane protein 223 [ Homo sapiens (human) ]

Gene ID: 79064, updated on 3-Apr-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
Predicted to be involved in nervous system development. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
11q12.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (62771120..62792006, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (62760439..62781398, complement)
105.20220307 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
  • 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. Defining the interactome of the human mitochondrial ribosome identifies SMIM4 and TMEM223 as respiratory chain assembly factors. Dennerlein S, et al. Elife, 2021 Dec 31. PMID 34969438, Free PMC Article
  2. TMEM70 functions in the assembly of complexes I and V. Sánchez-Caballero L, et al. Biochim Biophys Acta Bioenerg, 2020 Aug 1. PMID 32275929
  3. Distinct class of putative "non-conserved" promoters in humans: comparative studies of alternative promoters of human and mouse genes. Tsuritani K, et al. Genome Res, 2007 Jul. PMID 17567985, Free PMC Article
  4. Variability in Streptavidin-Sepharose Matrix Quality Can Significantly Affect Proximity-Dependent Biotinylation (BioID) Data. St-Germain JR, et al. J Proteome Res, 2020 Aug 7. PMID 32628020
  5. An Interaction Landscape of Ubiquitin Signaling. Zhang X, et al. Mol Cell, 2017 Mar 2. PMID 28190767

See all (16) citations in PubMed

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)

Genotypes

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 
involved_in nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
 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_2023_10

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

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