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TMEM117 transmembrane protein 117 [ Homo sapiens (human) ]

Gene ID: 84216, updated on 3-Apr-2024

Summary

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Official Symbol
TMEM117provided by HGNC
Official Full Name
transmembrane protein 117provided by HGNC
Primary source
HGNC:HGNC:25308
See related
Ensembl:ENSG00000139173 AllianceGenome:HGNC:25308
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
Summary
Involved in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress. Located in endoplasmic reticulum and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in esophagus (RPKM 3.1), duodenum (RPKM 2.6) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
12q12
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (43795802..44399108)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (43754527..44357775)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (44229884..44783541)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6217 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6219 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4370 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4371 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4372 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:44230125-44230357 Neighboring gene pseudouridine synthase 7 like Neighboring gene MPRA-validated peak1704 silencer Neighboring gene interleukin 1 receptor associated kinase 4 Neighboring gene NANOG hESC enhancer GRCh37_chr12:44293209-44293937 Neighboring gene MPRA-validated peak1705 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:44318495-44319694 Neighboring gene twinfilin actin binding protein 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:44373209-44373840 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6220 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:44422790-44423989 Neighboring gene zinc finger protein 75B, pseudogene Neighboring gene IQ motif containing F1 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:44702016-44702516 Neighboring gene uncharacterized LOC124902922 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6221 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6222 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6223 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:44860659-44860854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:44896165-44896666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:44896667-44897166 Neighboring gene neural EGFL like 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:45270221-45270722 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:45270723-45271222 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_28669 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6224 Neighboring gene uncharacterized LOC105369742 Neighboring gene developing brain homeobox 2

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. A novel transmembrane protein defines the endoplasmic reticulum stress-induced cell death pathway. Tamaki T, et al. Biochem Biophys Res Commun, 2017 Apr 22. PMID 28285135
  2. Intrinsic Disorder in Transmembrane Proteins: Roles in Signaling and Topology Prediction. Bürgi J, et al. PLoS One, 2016. PMID 27391701, Free PMC Article
  3. Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. Simpson JC, et al. EMBO Rep, 2000 Sep. PMID 11256614, Free PMC Article
  4. The LIFEdb database in 2006. Mehrle A, et al. Nucleic Acids Res, 2006 Jan 1. PMID 16381901, Free PMC Article
  5. From ORFeome to biology: a functional genomics pipeline. Wiemann S, et al. Genome Res, 2004 Oct. PMID 15489336, Free PMC Article

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Data suggest that transmembrane protein 117 (TMEM117) probably mediates the signalling of mitochondrial membrane potential (DeltaPsim) loss in endoplasmic reticulum (ER) stress-mediated mitochondria cell death.
    Title: A novel transmembrane protein defines the endoplasmic reticulum stress-induced cell death pathway.
  2. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
  4. 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

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

  • DKFZp434K2435

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
transmembrane protein 117

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_001286211.2 → NP_001273140.1  transmembrane protein 117 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    BC042192, DB477248
    Consensus CDS
    CCDS73462.1
    UniProtKB/TrEMBL
    F8VS00
    Related
    ENSP00000448595.1, ENST00000551577.5
    Conserved Domains (1) summary
    pfam15113
    Location:4 → 256
    TMEM117; TMEM117 protein family

  2. NM_001286212.2 → NP_001273141.1  transmembrane protein 117 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon in the central coding region and initiates translation at an alternate downstream start codon, compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    BC030284, BC042192, DB477248
    UniProtKB/TrEMBL
    Q05C15
    Conserved Domains (1) summary
    pfam15113
    Location:67 → 299
    TMEM117; TMEM117 protein family

  3. NM_001286213.2 → NP_001273142.1  transmembrane protein 117 isoform d

    See identical proteins and their annotated locations for NP_001273142.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an alternate exon in the 5' coding region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (d) has a shorter N-terminus than isoform a.
    Source sequence(s)
    AL136855, CF994089, DA007410
    UniProtKB/TrEMBL
    Q05C15
    Conserved Domains (1) summary
    pfam15113
    Location:1 → 259
    TMEM117; TMEM117 protein family

  4. NM_032256.3 → NP_115632.1  transmembrane protein 117 isoform a

    See identical proteins and their annotated locations for NP_115632.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AL136855, DB477248
    Consensus CDS
    CCDS8745.1
    UniProtKB/Swiss-Prot
    Q9H0C3
    Related
    ENSP00000266534.3, ENST00000266534.8
    Conserved Domains (1) summary
    pfam15113
    Location:4 → 403
    TMEM117; TMEM117 protein family

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    43795802..44399108
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047429662.1 → XP_047285618.1  transmembrane protein 117 isoform X1

    UniProtKB/Swiss-Prot
    Q9H0C3

  2. XM_047429665.1 → XP_047285621.1  transmembrane protein 117 isoform X5

  3. XM_011538832.3 → XP_011537134.1  transmembrane protein 117 isoform X1

    See identical proteins and their annotated locations for XP_011537134.1

    UniProtKB/Swiss-Prot
    Q9H0C3
    Conserved Domains (1) summary
    pfam15113
    Location:4 → 403
    TMEM117; TMEM117 protein family

  4. XM_017020022.2 → XP_016875511.1  transmembrane protein 117 isoform X2

  5. XM_047429663.1 → XP_047285619.1  transmembrane protein 117 isoform X3

  6. XM_047429664.1 → XP_047285620.1  transmembrane protein 117 isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    43754527..44357775
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054373458.1 → XP_054229433.1  transmembrane protein 117 isoform X1

    UniProtKB/Swiss-Prot
    Q9H0C3

  2. XM_054373462.1 → XP_054229437.1  transmembrane protein 117 isoform X5

  3. XM_054373457.1 → XP_054229432.1  transmembrane protein 117 isoform X1

    UniProtKB/Swiss-Prot
    Q9H0C3

  4. XM_054373459.1 → XP_054229434.1  transmembrane protein 117 isoform X2

  5. XM_054373460.1 → XP_054229435.1  transmembrane protein 117 isoform X3

  6. XM_054373461.1 → XP_054229436.1  transmembrane protein 117 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H0C3.1 GenPept UniProtKB/Swiss-Prot:Q9H0C3

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