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    TMEM45A transmembrane protein 45A [ Homo sapiens (human) ]

    Gene ID: 55076, updated on 5-Mar-2024

    Summary

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    Official Symbol
    TMEM45Aprovided by HGNC
    Official Full Name
    transmembrane protein 45Aprovided by HGNC
    Primary source
    HGNC:HGNC:25480
    See related
    Ensembl:ENSG00000181458 MIM:616928; AllianceGenome:HGNC:25480
    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
    DERP7; DNAPTP4
    Summary
    Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in skin (RPKM 215.6), liver (RPKM 25.9) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    3q12.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (100492619..100577444)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (103198293..103283136)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (100211463..100296288)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene translocase of outer mitochondrial membrane 70 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:100118351-100119270 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14571 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20157 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20158 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20159 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14572 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:100126809-100127334 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:100127335-100127860 Neighboring gene leukemia NUP98 fusion partner 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:100170016-100170553 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:100184868-100185368 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:100195719-100196404 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14573 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:100280470-100281334 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14574 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20161 Neighboring gene adhesion G protein-coupled receptor G7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20162 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20163 Neighboring gene glia maturation factor beta pseudogene 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:100427906-100428797 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:100428798-100429688 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:100456051-100456928 Neighboring gene trafficking from ER to golgi regulator

    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. TMEM45A Affects Proliferation, Apoptosis, Epithelial-Mesenchymal Transition, Migration, Invasion and Cisplatin Resistance of HPV-Positive Cervical Cancer Cell Lines. Liu Y, et al. Biochem Genet, 2022 Feb. PMID 34143331
    2. Characterization of the role of TMEM45A in cancer cell sensitivity to cisplatin. Schmit K, et al. Cell Death Dis, 2019 Dec 4. PMID 31801939, Free PMC Article
    3. Knockdown of TMEM45A overcomes multidrug resistance and epithelial-mesenchymal transition in human colorectal cancer cells through inhibition of TGF-β signalling pathway. Zhu M, et al. Clin Exp Pharmacol Physiol, 2020 Mar. PMID 31788833
    4. Knockdown of TMEM45A inhibits the proliferation, migration and invasion of glioma cells. Sun W, et al. Int J Clin Exp Pathol, 2015. PMID 26722455, Free PMC Article
    5. High TMEM45A expression is correlated to epidermal keratinization. Hayez A, et al. Exp Dermatol, 2014 May. PMID 24689342

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Association of Variants in TMEM45A With Keratoglobus.
      Title: Association of Variants in TMEM45A With Keratoglobus.
    2. TMEM45A Affects Proliferation, Apoptosis, Epithelial-Mesenchymal Transition, Migration, Invasion and Cisplatin Resistance of HPV-Positive Cervical Cancer Cell Lines.
      Title: TMEM45A Affects Proliferation, Apoptosis, Epithelial-Mesenchymal Transition, Migration, Invasion and Cisplatin Resistance of HPV-Positive Cervical Cancer Cell Lines.
    3. Transmembrane protein 45A regulates the proliferation, migration, and invasion of glioma cells through nuclear factor kappa-B.
      Title: Transmembrane protein 45A regulates the proliferation, migration, and invasion of glioma cells through nuclear factor kappa-B.
    4. Knockdown of TMEM45A overcomes multidrug resistance and epithelial-mesenchymal transition in human colorectal cancer cells through inhibition of TGF-beta signalling pathway.
      Title: Knockdown of TMEM45A overcomes multidrug resistance and epithelial-mesenchymal transition in human colorectal cancer cells through inhibition of TGF-β signalling pathway.
    5. Characterization of the role of TMEM45A in cancer cell sensitivity to cisplatin.
      Title: Characterization of the role of TMEM45A in cancer cell sensitivity to cisplatin.
    6. our study suggests that TMEM45A may work as an oncogene and a new effective therapeutic target for glioma treatment.
      Title: Knockdown of TMEM45A inhibits the proliferation, migration and invasion of glioma cells.
    7. knockdown of TMEM45A also inhibited cell adhesion as well as cell invasion. More importantly, suppression of TMEM45A notably downregulated the expression of TGF-b1, TGF-b2, RhoA and ROCK2.
      Title: Inhibition of TMEM45A suppresses proliferation, induces cell cycle arrest and reduces cell invasion in human ovarian cancer cells.
    8. TMEM45A expression is correlated to epidermal keratinization
      Title: High TMEM45A expression is correlated to epidermal keratinization.
    9. Data suggest that high levels of TMEM45A expression in tumors may be indicative of potential resistance to cancer therapy, making TMEM45A an interesting biomarker for resistance.
      Title: TMEM45A is essential for hypoxia-induced chemoresistance in breast and liver cancer cells.
    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

    • FLJ10134

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 45A
    Names
    DNA polymerase-transactivated protein 4
    dermal papilla derived protein 7

    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_001363876.2 → NP_001350805.1  transmembrane protein 45A isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC128693
      Consensus CDS
      CCDS87113.1
      UniProtKB/TrEMBL
      J3KQ06
      Conserved Domains (1) summary
      pfam04819
      Location:139 → 256
      DUF716; Family of unknown function (DUF716)

    2. NM_018004.3 → NP_060474.1  transmembrane protein 45A isoform 2

      See identical proteins and their annotated locations for NP_060474.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC128693, AY450392, BG205309
      Consensus CDS
      CCDS2937.1
      UniProtKB/Swiss-Prot
      Q53YW5, Q9NWC5
      Related
      ENSP00000319009.4, ENST00000323523.8
      Conserved Domains (1) summary
      pfam04819
      Location:123 → 240
      DUF716; Family of unknown function (DUF716)

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      100492619..100577444
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448425.1 → XP_047304381.1  transmembrane protein 45A isoform X3

      UniProtKB/TrEMBL
      J3KQ06
      Related
      ENSP00000385089.1, ENST00000403410.5

    2. XM_047448427.1 → XP_047304383.1  transmembrane protein 45A isoform X3

      UniProtKB/TrEMBL
      J3KQ06

    3. XM_047448426.1 → XP_047304382.1  transmembrane protein 45A isoform X3

      UniProtKB/TrEMBL
      J3KQ06

    4. XM_047448418.1 → XP_047304374.1  transmembrane protein 45A isoform X1

    5. XM_047448419.1 → XP_047304375.1  transmembrane protein 45A isoform X1

    6. XM_047448420.1 → XP_047304376.1  transmembrane protein 45A isoform X1

    7. XM_047448422.1 → XP_047304378.1  transmembrane protein 45A isoform X2

    8. XM_047448421.1 → XP_047304377.1  transmembrane protein 45A isoform X1

    9. XM_047448423.1 → XP_047304379.1  transmembrane protein 45A isoform X2

    10. XM_047448424.1 → XP_047304380.1  transmembrane protein 45A isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      103198293..103283136
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347041.1 → XP_054203016.1  transmembrane protein 45A isoform X3

      UniProtKB/TrEMBL
      J3KQ06

    2. XM_054347043.1 → XP_054203018.1  transmembrane protein 45A isoform X3

      UniProtKB/TrEMBL
      J3KQ06

    3. XM_054347042.1 → XP_054203017.1  transmembrane protein 45A isoform X3

      UniProtKB/TrEMBL
      J3KQ06

    4. XM_054347035.1 → XP_054203010.1  transmembrane protein 45A isoform X1

    5. XM_054347038.1 → XP_054203013.1  transmembrane protein 45A isoform X1

    6. XM_054347036.1 → XP_054203011.1  transmembrane protein 45A isoform X1

    7. XM_054347037.1 → XP_054203012.1  transmembrane protein 45A isoform X1

    8. XM_054347039.1 → XP_054203014.1  transmembrane protein 45A isoform X2

    9. XM_054347040.1 → XP_054203015.1  transmembrane protein 45A isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NWC5.1 GenPept UniProtKB/Swiss-Prot:Q9NWC5

    Gene LinkOut

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