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    TMEM79 transmembrane protein 79 [ Homo sapiens (human) ]

    Gene ID: 84283, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TMEM79provided by HGNC
    Official Full Name
    transmembrane protein 79provided by HGNC
    Primary source
    HGNC:HGNC:28196
    See related
    Ensembl:ENSG00000163472 MIM:615531; AllianceGenome:HGNC:28196
    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
    MATT
    Summary
    Enables identical protein binding activity. Predicted to be involved in several processes, including epithelial cell maturation; establishment of skin barrier; and positive regulation of epidermis development. Predicted to act upstream of or within cornification; cuticle development; and hair follicle morphogenesis. Predicted to be located in Golgi apparatus; lysosome; and membrane. Predicted to be active in lysosomal membrane and trans-Golgi network membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in skin (RPKM 34.9), esophagus (RPKM 32.0) and 6 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM79 in Genome Data Viewer
    Location:
    1q22
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (156282932..156292443)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (155421394..155430906)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (156252723..156262234)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene PMF1-BGLAP readthrough Neighboring gene BGLAP promoter region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1423 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1424 Neighboring gene Sharpr-MPRA regulatory region 3040 Neighboring gene bone gamma-carboxyglutamate protein Neighboring gene progestin and adipoQ receptor family member 6 Neighboring gene SMG5 nonsense mediated mRNA decay factor Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156250697-156251670 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1425 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:156252643-156253614 Neighboring gene Sharpr-MPRA regulatory regions 9834 and 13552 Neighboring gene glycosylated lysosomal membrane protein Neighboring gene VHL like

    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 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. TMEM79 Ameliorates Cerebral Ischemia/Reperfusion Injury Through Regulating Inflammation and Oxidative Stress via the Nrf2/NLRP3 Pathway. Zhang W, et al. Immunol Invest, 2024 Aug. PMID 38809063
    2. Overexpression of TMEM79 combined with SMG5 is related to prognosis, tumor immune infiltration and drug sensitivity in hepatocellular carcinoma. Wang Y, et al. Eur J Med Res, 2023 Nov 7. PMID 37936239, Free PMC Article
    3. Tissue-specific contributions of Tmem79 to atopic dermatitis and mast cell-mediated histaminergic itch. Emrick JJ, et al. Proc Natl Acad Sci U S A, 2018 Dec 18. PMID 30463955, Free PMC Article
    4. Mechanisms of abnormal lamellar body secretion and the dysfunctional skin barrier in patients with atopic dermatitis. Elias PM, et al. J Allergy Clin Immunol, 2014 Oct. PMID 25131691, Free PMC Article
    5. Analysis of the Human Prostate-Specific Proteome Defined by Transcriptomics and Antibody-Based Profiling Identifies TMEM79 and ACOXL as Two Putative, Diagnostic Markers in Prostate Cancer. O'Hurley G, et al. PLoS One, 2015. PMID 26237329, Free PMC Article

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TMEM79 Ameliorates Cerebral Ischemia/Reperfusion Injury Through Regulating Inflammation and Oxidative Stress via the Nrf2/NLRP3 Pathway.
      Title: TMEM79 Ameliorates Cerebral Ischemia/Reperfusion Injury Through Regulating Inflammation and Oxidative Stress via the Nrf2/NLRP3 Pathway.
    2. Overexpression of TMEM79 combined with SMG5 is related to prognosis, tumor immune infiltration and drug sensitivity in hepatocellular carcinoma.
      Title: Overexpression of TMEM79 combined with SMG5 is related to prognosis, tumor immune infiltration and drug sensitivity in hepatocellular carcinoma.
    3. The study identified two proteins, TMEM79 and ACOXL, with potential to differentiate between benign and cancerous prostatic glands in tissue biopsies.
      Title: Analysis of the Human Prostate-Specific Proteome Defined by Transcriptomics and Antibody-Based Profiling Identifies TMEM79 and ACOXL as Two Putative, Diagnostic Markers in Prostate Cancer.
    4. Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects.
      Title: Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    EBI GWAS Catalog
    Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.
    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

    • FLJ16057, FLJ32254, MGC13102

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cornification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cuticle development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in epithelial cell maturation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in establishment of skin barrier ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in hair follicle morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of epidermis development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulated exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulated exocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in lysosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lysosomal membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in trans-Golgi network membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in trans-Golgi network membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 79
    Names
    mattrin

    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_032323.3 → NP_115699.1  transmembrane protein 79

      See identical proteins and their annotated locations for NP_115699.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes a 394aa protein.
      Source sequence(s)
      AK315767, BC005094, BF448444
      Consensus CDS
      CCDS1138.1
      UniProtKB/Swiss-Prot
      B2RE22, D3DVB8, Q9BSE2
      Related
      ENSP00000384748.2, ENST00000405535.3

    RNA

    1. NR_026678.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate 5' exon and a uORF encoding 38aa with strong Kozak signal, as compared to variant 1. This transcript is unlikely to make a functional protein.
      Source sequence(s)
      BC005094, BF448444, DA678865
      Related
      ENST00000463670.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      156282932..156292443
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      155421394..155430906
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BSE2.1 GenPept UniProtKB/Swiss-Prot:Q9BSE2

    Gene LinkOut

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

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