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TMEM135 transmembrane protein 135 [ Homo sapiens (human) ]

Gene ID: 65084, updated on 13-Mar-2020

Summary

Official Symbol
TMEM135provided by HGNC
Official Full Name
transmembrane protein 135provided by HGNC
Primary source
HGNC:HGNC:26167
See related
Ensembl:ENSG00000166575 MIM:616360
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
Expression
Ubiquitous expression in fat (RPKM 8.2), adrenal (RPKM 4.0) and 24 other tissues See more
Orthologs

Genomic context

See TMEM135 in Genome Data Viewer
Location:
11q14.2
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (87037934..87328824)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (86748886..87039876)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369422 Neighboring gene FZD4 divergent transcript Neighboring gene heterogeneous nuclear ribonucleoprotein C pseudogene 8 Neighboring gene X-linked inhibitor of apoptosis pseudogene 2 Neighboring gene mitochondrial import receptor subunit TOM22 homolog pseudogene Neighboring gene coiled-coil domain containing 90B pseudogene Neighboring gene uncharacterized LOC107984361 Neighboring gene proteasome subunit alpha 2 pseudogene 1 Neighboring gene high mobility group box 3 pseudogene 25

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22104, DKFZp686I1974

Gene Ontology Provided by GOA

Process Evidence Code Pubs
peroxisome organization ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of mitochondrial fission IEA
Inferred from Electronic Annotation
more info
 
response to cold IEA
Inferred from Electronic Annotation
more info
 
response to food IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
lipid droplet IEA
Inferred from Electronic Annotation
more info
 
mitochondrial membrane IEA
Inferred from Electronic Annotation
more info
 
peroxisomal membrane IEA
Inferred from Electronic Annotation
more info
 
peroxisome ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
transmembrane protein 135
Names
peroxisomal membrane protein 52

NCBI Reference Sequences (RefSeq)

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_001168724.2NP_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/Swiss-Prot
    Q86UB9
    Related
    ENSP00000345513.6, ENST00000340353.11
    Conserved Domains (2) summary
    pfam02466
    Location:227316
    Tim17; Tim17/Tim22/Tim23/Pmp24 family
    pfam15982
    Location:9132
    TMEM135_C_rich; N-terminal cysteine-rich region of Transmembrane protein 135
  2. NM_022918.4NP_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
    Q86UB9
    Related
    ENSP00000306344.5, ENST00000305494.6
    Conserved Domains (2) summary
    pfam02466
    Location:249338
    Tim17; Tim17/Tim22/Tim23/Pmp24 family
    pfam15982
    Location:9142
    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: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017018141.2XP_016873630.1  transmembrane protein 135 isoform X1

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

    Related
    ENSP00000436179.1, ENST00000532959.5
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