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    TMEM11 transmembrane protein 11 [ Homo sapiens (human) ]

    Gene ID: 8834, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TMEM11provided by HGNC
    Official Full Name
    transmembrane protein 11provided by HGNC
    Primary source
    HGNC:HGNC:16823
    See related
    Ensembl:ENSG00000178307 MIM:618817; AllianceGenome:HGNC:16823
    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
    PM1; PMI; C17orf35
    Summary
    Involved in mitochondrion organization. Located in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in fat (RPKM 9.9), bone marrow (RPKM 9.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM11 in Genome Data Viewer
    Location:
    17p11.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (21197954..21214161, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (21146829..21163052, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (21101267..21117474, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:20978550-20979050 Neighboring gene long intergenic non-protein coding RNA 1563 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:20987896-20989095 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr17:21002173-21002789 and GRCh37_chr17:21002790-21003407 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:21011664-21012527 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11879 Neighboring gene dehydrogenase/reductase 7B Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:21102215-21103012 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:21108419-21109051 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11880 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8313 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8314 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11881 Neighboring gene TMEM11 divergent transcript Neighboring gene RNA, 7SL, cytoplasmic 426, 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. Nucleotide sequence of a cDNA encoding a protein with primary structural similarity to G-protein coupled receptors. Murphy PM, et al. Nucleic Acids Res, 1990 Apr 11. PMID 2110658, Free PMC Article
    2. The outer mitochondrial membrane protein TMEM11 demarcates spatially restricted BNIP3/BNIP3L-mediated mitophagy. Gok MO, et al. J Cell Biol, 2023 Apr 3. PMID 36795401, Free PMC Article
    3. Inner-membrane proteins PMI/TMEM11 regulate mitochondrial morphogenesis independently of the DRP1/MFN fission/fusion pathways. Rival T, et al. EMBO Rep, 2011 Mar. PMID 21274005, Free PMC Article
    4. Rapid degradation of mutant SLC25A46 by the ubiquitin-proteasome system results in MFN1/2-mediated hyperfusion of mitochondria. Steffen J, et al. Mol Biol Cell, 2017 Mar 1. PMID 28057766, Free PMC Article
    5. Identifying protein partners of CLN8, an ER-resident protein involved in neuronal ceroid lipofuscinosis. Passantino R, et al. Biochim Biophys Acta, 2013 Mar. PMID 23142642

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The outer mitochondrial membrane protein TMEM11 demarcates spatially restricted BNIP3/BNIP3L-mediated mitophagy.
      Title: The outer mitochondrial membrane protein TMEM11 demarcates spatially restricted BNIP3/BNIP3L-mediated mitophagy.
    2. study demonstrates that the Drosophila PMI gene and its human orthologue TMEM11 encode mitochondrial inner-membrane proteins that regulate mitochondrial morphogenesis
      Title: Inner-membrane proteins PMI/TMEM11 regulate mitochondrial morphogenesis independently of the DRP1/MFN fission/fusion pathways.
    3. 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)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr is identified to have a physical interaction with transmembrane protein 11 (TMEM11) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: NATD1

    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 inner mitochondrial membrane organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transmembrane protein 11, mitochondrial
    Names
    putative receptor protein

    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_003876.3 → NP_003867.1  transmembrane protein 11, mitochondrial

      See identical proteins and their annotated locations for NP_003867.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the functional protein.
      Source sequence(s)
      AC087294, AC087393
      Consensus CDS
      CCDS11216.1
      UniProtKB/Swiss-Prot
      P17152, Q53YB2
      Related
      ENSP00000319992.6, ENST00000317635.6
      Conserved Domains (1) summary
      pfam14972
      Location:28 → 190
      Mito_morph_reg; Mitochondrial morphogenesis regulator

    RNA

    1. NR_024547.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) includes an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC087294, AC087393
      Related
      ENST00000577419.5

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      21197954..21214161 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      21146829..21163052 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P17152.1 GenPept UniProtKB/Swiss-Prot:P17152

    Gene LinkOut

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