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    TMEM100 transmembrane protein 100 [ Homo sapiens (human) ]

    Gene ID: 55273, updated on 11-Apr-2024

    Summary

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    Official Symbol
    TMEM100provided by HGNC
    Official Full Name
    transmembrane protein 100provided by HGNC
    Primary source
    HGNC:HGNC:25607
    See related
    Ensembl:ENSG00000166292 MIM:616334; AllianceGenome:HGNC:25607
    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 BMP signaling pathway. Located in several cellular components, including endoplasmic reticulum; perikaryon; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in lung (RPKM 28.4), fat (RPKM 14.1) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM100 in Genome Data Viewer
    Location:
    17q22
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (55719627..55732081, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (56595735..56608191, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (53796988..53809442, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927389 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8735 Neighboring gene MPRA-validated peak2903 silencer Neighboring gene uncharacterized LOC124904099 Neighboring gene CRISPRi-validated cis-regulatory element chr17.3823 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8736 Neighboring gene Sharpr-MPRA regulatory region 14534 Neighboring gene phosphatidylcholine transfer protein Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:53947369-53947962 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:54047027-54047211 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:54047308-54047999 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:54066616-54066826 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:54067571-54068181 Neighboring gene ankyrin repeat and fibronectin type III domain containing 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:54234389-54234595 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:54299024-54300223 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:54307079-54307689 Neighboring gene uncharacterized LOC124904035

    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. TMEM100 induces cell death in non‑small cell lung cancer via the activation of autophagy and apoptosis. He Q, et al. Oncol Rep, 2021 May. PMID 34184748
    2. TMEM100 expression suppresses metastasis and enhances sensitivity to chemotherapy in gastric cancer. Zhuang J, et al. Biol Chem, 2020 Feb 25. PMID 31188741
    3. TMEM100 mediates inflammatory cytokines secretion in hepatic stellate cells and its mechanism research. Pan LX, et al. Toxicol Lett, 2019 Dec 15. PMID 30639579
    4. The expression of Transmembrane Protein 100 is regulated by alterations in calcium signaling rather than endoplasmic reticulum stress. Kuboyama A, et al. Biosci Biotechnol Biochem, 2018 Aug. PMID 29690857
    5. Novel roles of TMEM100: inhibition metastasis and proliferation of hepatocellular carcinoma. Ou D, et al. Oncotarget, 2015 Jul 10. PMID 25978032, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Role of TMEM100 in mechanically insensitive nociceptor un-silencing.
      Title: Role of TMEM100 in mechanically insensitive nociceptor un-silencing.
    2. Upregulation of DRG protein TMEM100 facilitates dry-skin-induced pruritus by enhancing TRPA1 channel function.
      Title: Upregulation of DRG protein TMEM100 facilitates dry-skin-induced pruritus by enhancing TRPA1 channel function.
    3. Histone deacetylase 6-mediated downregulation of TMEM100 expedites the development and progression of non-small cell lung cancer.
      Title: Histone deacetylase 6-mediated downregulation of TMEM100 expedites the development and progression of non-small cell lung cancer.
    4. Functional expression of TRPA1 channel, TRPV1 channel and TMEM100 in human odontoblasts.
      Title: Functional expression of TRPA1 channel, TRPV1 channel and TMEM100 in human odontoblasts.
    5. TMEM100 induces cell death in nonsmall cell lung cancer via the activation of autophagy and apoptosis.
      Title: TMEM100 induces cell death in non‑small cell lung cancer via the activation of autophagy and apoptosis.
    6. TMEM100 negatively regulated by microRNA106b facilitates cellular apoptosis by suppressing survivin expression in NSCLC.
      Title: TMEM100 negatively regulated by microRNA‑106b facilitates cellular apoptosis by suppressing survivin expression in NSCLC.
    7. TMEM100 expression suppresses metastasis and enhances sensitivity to chemotherapy in gastric cancer.
      Title: TMEM100 expression suppresses metastasis and enhances sensitivity to chemotherapy in gastric cancer.
    8. TMEM100 is critical for inflammatory cytokines secretion and is regulated by MAPK (ERK/JNK) signaling pathway in hepatic stellate cells.
      Title: TMEM100 mediates inflammatory cytokines secretion in hepatic stellate cells and its mechanism research.
    9. experiments using another type of ER stress inducer demonstrated that calcium signaling was more important than ER stress in the regulation of TMEM100 expression
      Title: The expression of Transmembrane Protein 100 is regulated by alterations in calcium signaling rather than endoplasmic reticulum stress.
    10. The current findings suggest that TMEM100 functions as a tumor suppressor in hepatocellular carcinoma metastasis and proliferation.
      Title: Novel roles of TMEM100: inhibition metastasis and proliferation of hepatocellular carcinoma.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe).
    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

    • FLJ10970, FLJ37856

    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 BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in arterial endothelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to BMP stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cellular response to BMP stimulus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in epithelial to mesenchymal transition involved in endocardial cushion formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of endothelial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of vasculogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of calcium-mediated signaling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of sensory perception of pain ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in vasculogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perikaryon IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    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 100

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001099640.2 → NP_001093110.1  transmembrane protein 100

      See identical proteins and their annotated locations for NP_001093110.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      BC010128, BQ027747, CB152959, DA579336
      Consensus CDS
      CCDS11587.1
      UniProtKB/Swiss-Prot
      D3DTY7, I3L214, Q96FZ0, Q9NV29
      UniProtKB/TrEMBL
      B3KT87
      Related
      ENSP00000465638.1, ENST00000575734.5
      Conserved Domains (1) summary
      pfam16311
      Location:2 → 131
      TMEM100; Transmembrane protein 100

    2. NM_018286.3 → NP_060756.2  transmembrane protein 100

      See identical proteins and their annotated locations for NP_060756.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      BC010128, BQ027747, DA896013
      Consensus CDS
      CCDS11587.1
      UniProtKB/Swiss-Prot
      D3DTY7, I3L214, Q96FZ0, Q9NV29
      UniProtKB/TrEMBL
      B3KT87
      Related
      ENSP00000395328.2, ENST00000424486.3
      Conserved Domains (1) summary
      pfam16311
      Location:2 → 131
      TMEM100; Transmembrane protein 100

    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
      55719627..55732081 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436342.1 → XP_047292298.1  transmembrane protein 100 isoform X1

      UniProtKB/Swiss-Prot
      D3DTY7, I3L214, Q96FZ0, Q9NV29

    2. XM_047436341.1 → XP_047292297.1  transmembrane protein 100 isoform X1

      UniProtKB/Swiss-Prot
      D3DTY7, I3L214, Q96FZ0, Q9NV29

    3. XM_047436343.1 → XP_047292299.1  transmembrane protein 100 isoform X1

      UniProtKB/Swiss-Prot
      D3DTY7, I3L214, Q96FZ0, Q9NV29

    4. XM_017024815.2 → XP_016880304.1  transmembrane protein 100 isoform X1

      UniProtKB/Swiss-Prot
      D3DTY7, I3L214, Q96FZ0, Q9NV29
      UniProtKB/TrEMBL
      B3KT87
      Conserved Domains (1) summary
      pfam16311
      Location:2 → 131
      TMEM100; Transmembrane protein 100

    5. XM_017024816.2 → XP_016880305.1  transmembrane protein 100 isoform X1

      UniProtKB/Swiss-Prot
      D3DTY7, I3L214, Q96FZ0, Q9NV29
      UniProtKB/TrEMBL
      B3KT87
      Conserved Domains (1) summary
      pfam16311
      Location:2 → 131
      TMEM100; Transmembrane protein 100

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      56595735..56608191 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316602.1 → XP_054172577.1  transmembrane protein 100 isoform X1

      UniProtKB/Swiss-Prot
      D3DTY7, I3L214, Q96FZ0, Q9NV29

    2. XM_054316601.1 → XP_054172576.1  transmembrane protein 100 isoform X1

      UniProtKB/Swiss-Prot
      D3DTY7, I3L214, Q96FZ0, Q9NV29

    3. XM_054316603.1 → XP_054172578.1  transmembrane protein 100 isoform X1

      UniProtKB/Swiss-Prot
      D3DTY7, I3L214, Q96FZ0, Q9NV29

    4. XM_054316604.1 → XP_054172579.1  transmembrane protein 100 isoform X1

      UniProtKB/Swiss-Prot
      D3DTY7, I3L214, Q96FZ0, Q9NV29
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NV29.2 GenPept UniProtKB/Swiss-Prot:Q9NV29

    Gene LinkOut

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

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