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TMEM11 transmembrane protein 11 [ Homo sapiens (human) ]

Gene ID: 8834, updated on 11-Apr-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 mitochondrion. Is integral component of mitochondrial inner membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in fat (RPKM 9.9), bone marrow (RPKM 9.5) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
17p11.2
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (21197954..21214161, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (21146829..21163052, complement)
105.20220307 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 (31) 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)

Genotypes

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 molecular_function ND
No biological Data available
more info
  
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 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_2023_10

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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