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    TMEM135 transmembrane protein 135 [ Homo sapiens (human) ]

    Gene ID: 65084, updated on 3-Apr-2024

    Summary

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    Official Symbol
    TMEM135provided by HGNC
    Official Full Name
    transmembrane protein 135provided by HGNC
    Primary source
    HGNC:HGNC:26167
    See related
    Ensembl:ENSG00000166575 MIM:616360; AllianceGenome:HGNC:26167
    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
    PMP52
    Summary
    Predicted to be involved in peroxisome organization. Predicted to act upstream of or within response to cold and response to food. Predicted to be located in mitochondrion and peroxisome. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in fat (RPKM 8.2), adrenal (RPKM 4.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM135 in Genome Data Viewer
    Location:
    11q14.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (87037934..87328824)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (86978816..87269939)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (86748976..87039866)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3830 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3829 Neighboring gene uncharacterized LOC105369422 Neighboring gene FZD4 divergent transcript Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:86748451-86748951 Neighboring gene heterogeneous nuclear ribonucleoprotein C pseudogene 8 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:86793865-86794704 Neighboring gene Sharpr-MPRA regulatory region 6561 Neighboring gene X-linked inhibitor of apoptosis pseudogene 2 Neighboring gene MPRA-validated peak1382 silencer Neighboring gene mitochondrial import receptor subunit TOM22 homolog Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5375 Neighboring gene coiled-coil domain containing 90B pseudogene Neighboring gene uncharacterized LOC107984361 Neighboring gene proteasome subunit alpha 2 pseudogene 1 Neighboring gene MPRA-validated peak1383 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3832 Neighboring gene high mobility group box 3 pseudogene 25

    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. TMEM135 regulates primary ciliogenesis through modulation of intracellular cholesterol distribution. Maharjan Y, et al. EMBO Rep, 2020 May 6. PMID 32157776, Free PMC Article
    2. Evolution of the Tim17 protein family. Žárský V, et al. Biol Direct, 2016 Oct 19. PMID 27760563, Free PMC Article
    3. MiR-100-5p inhibits osteogenic differentiation of human bone mesenchymal stromal cells by targeting TMEM135. Wang R, et al. Hum Cell, 2022 Nov. PMID 35947339
    4. Pituitary tumor-transforming gene protein associates with ribosomal protein S10 and a novel human homologue of DnaJ in testicular cells. Pei L. J Biol Chem, 1999 Jan 29. PMID 9915854
    5. Stressed-induced TMEM135 protein is part of a conserved genetic network involved in fat storage and longevity regulation in Caenorhabditis elegans. Exil VJ, et al. PLoS One, 2010 Dec 3. PMID 21151927, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MiR-100-5p inhibits osteogenic differentiation of human bone mesenchymal stromal cells by targeting TMEM135.
      Title: MiR-100-5p inhibits osteogenic differentiation of human bone mesenchymal stromal cells by targeting TMEM135.
    2. TMEM135 regulates primary ciliogenesis through modulation of intracellular cholesterol distribution.
      Title: TMEM135 regulates primary ciliogenesis through modulation of intracellular cholesterol distribution.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2015-11-02)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2015-11-02)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.
    EBI GWAS Catalog

    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

    • FLJ22104, DKFZp686I1974

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in mitochondrion organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in peroxisome organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of mitochondrial fission IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of oxidative phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to cold IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to food IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in retinal pigment epithelium development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in lipid droplet IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrial membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in peroxisomal membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in peroxisome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 135
    Names
    peroxisomal membrane protein 52
    peroxisomal protein 52

    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_001168724.2 → NP_001162195.1  transmembrane protein 135 isoform 2

      See identical proteins and their annotated locations for NP_001162195.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AP000811, BX648678, DB325683
      Consensus CDS
      CCDS53692.1
      UniProtKB/TrEMBL
      A8K6Y9
      Related
      ENSP00000345513.6, ENST00000340353.11
      Conserved Domains (2) summary
      pfam02466
      Location:227 → 316
      Tim17; Tim17/Tim22/Tim23/Pmp24 family
      pfam15982
      Location:9 → 132
      TMEM135_C_rich; N-terminal cysteine-rich region of Transmembrane protein 135

    2. NM_022918.4 → NP_075069.3  transmembrane protein 135 isoform 1

      See identical proteins and their annotated locations for NP_075069.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AP000811, BC051462, BX648678, DB325683
      Consensus CDS
      CCDS8280.1
      UniProtKB/Swiss-Prot
      Q6AW91, Q86UB9, Q8ND01, Q9H6M3
      UniProtKB/TrEMBL
      A8K6Y9
      Related
      ENSP00000306344.5, ENST00000305494.6
      Conserved Domains (2) summary
      pfam02466
      Location:249 → 338
      Tim17; Tim17/Tim22/Tim23/Pmp24 family
      pfam15982
      Location:9 → 142
      TMEM135_C_rich; N-terminal cysteine-rich region of Transmembrane protein 135

    RNA

    1. NR_033149.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK302473, AP000811, AP002967, BX648678, DB325683

    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
      87037934..87328824
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018141.3 → XP_016873630.1  transmembrane protein 135 isoform X1

      UniProtKB/TrEMBL
      E9PQL0

    2. XM_017018142.2 → XP_016873631.1  transmembrane protein 135 isoform X2

      UniProtKB/TrEMBL
      E9PQL0
      Related
      ENSP00000436179.1, ENST00000532959.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      86978816..87269939
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369681.1 → XP_054225656.1  transmembrane protein 135 isoform X1

    2. XM_054369682.1 → XP_054225657.1  transmembrane protein 135 isoform X2

      UniProtKB/TrEMBL
      B4DYK0
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86UB9.2 GenPept UniProtKB/Swiss-Prot:Q86UB9

    Gene LinkOut

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

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