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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
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Genomic context

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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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