TMEM79 transmembrane protein 79 [Homo sapiens (human)] - Gene

Summary

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, Dec 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

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.

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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 EBI GWAS CatalogPubMed
Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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)

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

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