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TMEM79 transmembrane protein 79 [ Homo sapiens (human) ]

Gene ID: 84283, updated on 5-Mar-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 cytoplasm. Predicted to be active in lysosomal membrane and trans-Golgi network membrane. [provided by Alliance of Genome Resources, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (156282932..156292443)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (155421394..155430906)
105.20220307 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
  • 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. 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
  2. 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
  3. 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
  4. Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects. Saunders SP, et al. J Allergy Clin Immunol, 2013 Nov. PMID 24084074, Free PMC Article
  5. Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians. Chen P, et al. Diabetes, 2014 Jul. PMID 24647736, Free PMC Article

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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_2023_10

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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