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TMEM79 transmembrane protein 79 [ Homo sapiens (human) ]

Gene ID: 84283, updated on 11-Sep-2019

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
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
Expression
Biased expression in skin (RPKM 34.9), esophagus (RPKM 32.0) and 6 other tissues See more
Orthologs

Genomic context

See TMEM79 in Genome Data Viewer
Location:
1q22
Exon count:
5
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (156282913..156292443)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (156252704..156262234)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene PMF1-BGLAP readthrough Neighboring gene BGLAP promoter region 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 Sharpr-MPRA regulatory regions 9834 and 13552 Neighboring gene glycosylated lysosomal membrane protein Neighboring gene VHL like

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ16057, FLJ32254, MGC13102

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
transmembrane protein 79
Names
mattrin

NCBI Reference Sequences (RefSeq)

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_032323.3NP_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
    Q9BSE2
    Related
    ENSP00000384748.2, ENST00000405535.3
    Conserved Domains (2) summary
    pfam05110
    Location:292
    AF-4; AF-4 proto-oncoprotein
    cl26386
    Location:17197
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

RNA

  1. NR_026678.1 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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    156282913..156292443
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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