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Aliases for TMEM53 Gene

Aliases for TMEM53 Gene

  • Transmembrane Protein 53 2 3 5
  • Novel DUF829 Domain-Containing Protein 3
  • NET4 3

External Ids for TMEM53 Gene

Previous GeneCards Identifiers for TMEM53 Gene

  • GC01M044789
  • GC01M044892
  • GC01M045100
  • GC01M043233

Summaries for TMEM53 Gene

GeneCards Summary for TMEM53 Gene

TMEM53 (Transmembrane Protein 53) is a Protein Coding gene.

Additional gene information for TMEM53 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM53 Gene

Genomics for TMEM53 Gene

GeneHancer (GH) Regulatory Elements for TMEM53 Gene

Promoters and enhancers for TMEM53 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I044671 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 -0.5 -493 6.3 HDGF PKNOX1 CLOCK SMAD1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 IRF4 C1orf228 TMEM53 TOE1 MUTYH ARTN RNU5F-1 NASP KIF2C BTBD19 RPS8
GH01I044706 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.7 -32.8 -32803 2.4 ELF3 PKNOX1 FOXA2 RB1 ARID4B RAD21 RARA ZNF335 ZNF121 E2F8 C1orf228 TMEM53 RNU5D-1 KIF2C RNF220 GC01P044699 GC01M044722 RNU5F-1 LOC105378690
GH01I044696 Enhancer 0.8 Ensembl ENCODE 12.2 -22.7 -22718 2 MEIS2 TAL1 CBFA2T3 EBF1 GABPA TCF12 POLR2A IKZF1 ETV6 IKZF2 C1orf228 RNU5F-1 TMEM53 GC01P044699 LOC105378690
GH01I044694 Enhancer 0.6 ENCODE 12.2 -20.5 -20456 0.2 ZNF687 FOXA2 CBFB DPF2 ATF2 RAD21 ZKSCAN8 IKZF1 HNF4A ETV6 C1orf228 RNU5F-1 TMEM53 GC01P044699 LOC105378690
GH01I044637 Enhancer 1.1 ENCODE dbSUPER 0.3 +36.8 36793 1 PKNOX1 ATF1 ARNT YY1 TCF12 GATA2 NCOA1 REST ZNF592 ZNF184 DMAP1 PIR47647 GC01P044661 TMEM53 RNF220
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TMEM53 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMEM53 gene promoter:

Genomic Locations for TMEM53 Gene

Genomic Locations for TMEM53 Gene
chr1:44,635,238-44,674,608
(GRCh38/hg38)
Size:
39,371 bases
Orientation:
Minus strand
chr1:45,100,910-45,140,227
(GRCh37/hg19)

Genomic View for TMEM53 Gene

Genes around TMEM53 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM53 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM53 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM53 Gene

Proteins for TMEM53 Gene

  • Protein details for TMEM53 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P2H8-TMM53_HUMAN
    Recommended name:
    Transmembrane protein 53
    Protein Accession:
    Q6P2H8
    Secondary Accessions:
    • B4DKG0
    • Q5JPH2
    • Q6IA07
    • Q9H6E2

    Protein attributes for TMEM53 Gene

    Size:
    277 amino acids
    Molecular mass:
    31630 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TMEM53 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM53 Gene

Post-translational modifications for TMEM53 Gene

No Post-translational modifications

No data available for DME Specific Peptides for TMEM53 Gene

Domains & Families for TMEM53 Gene

Gene Families for TMEM53 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for TMEM53 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM53 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6P2H8

UniProtKB/Swiss-Prot:

TMM53_HUMAN :
  • Belongs to the TMEM53 family.
Family:
  • Belongs to the TMEM53 family.
genes like me logo Genes that share domains with TMEM53: view

Function for TMEM53 Gene

genes like me logo Genes that share phenotypes with TMEM53: view

miRNA for TMEM53 Gene

miRTarBase miRNAs that target TMEM53

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM53 Gene

Localization for TMEM53 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM53 Gene

Membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMEM53 gene
Compartment Confidence
nucleus 5
plasma membrane 2
golgi apparatus 2
extracellular 1
mitochondrion 1
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Focal adhesion sites (2)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMEM53 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM53: view

Pathways & Interactions for TMEM53 Gene

SuperPathways for TMEM53 Gene

No Data Available

Interacting Proteins for TMEM53 Gene

Gene Ontology (GO) - Biological Process for TMEM53 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TMEM53 Gene

Drugs & Compounds for TMEM53 Gene

No Compound Related Data Available

Transcripts for TMEM53 Gene

Unigene Clusters for TMEM53 Gene

Transmembrane protein 53:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM53 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c · 3d · 3e · 3f
SP1:
SP2: -
SP3: -
SP4: - -
SP5: -

Relevant External Links for TMEM53 Gene

GeneLoc Exon Structure for
TMEM53
ECgene alternative splicing isoforms for
TMEM53

Expression for TMEM53 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM53 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TMEM53 Gene

This gene is overexpressed in Liver (x5.6).

Protein differential expression in normal tissues from HIPED for TMEM53 Gene

This gene is overexpressed in Liver (40.0) and Adipocyte (29.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TMEM53 Gene



Protein tissue co-expression partners for TMEM53 Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM53 Gene:

TMEM53

SOURCE GeneReport for Unigene cluster for TMEM53 Gene:

Hs.22157

Evidence on tissue expression from TISSUES for TMEM53 Gene

  • Nervous system(4.3)
  • Eye(4.2)
  • Kidney(4.2)
genes like me logo Genes that share expression patterns with TMEM53: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM53 Gene

Orthologs for TMEM53 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TMEM53 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM53 33 34
  • 99.4 (n)
dog
(Canis familiaris)
Mammalia TMEM53 33 34
  • 88.93 (n)
cow
(Bos Taurus)
Mammalia TMEM53 33 34
  • 87.97 (n)
rat
(Rattus norvegicus)
Mammalia Tmem53 33
  • 85.21 (n)
mouse
(Mus musculus)
Mammalia Tmem53 33 16 34
  • 84.36 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM53 34
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM53 34
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM53 33 34
  • 61.98 (n)
lizard
(Anolis carolinensis)
Reptilia TMEM53 34
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem53 33
  • 54.68 (n)
Str.10692 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.23166 33
zebrafish
(Danio rerio)
Actinopterygii tmem53 33 34
  • 56.43 (n)
Dr.13710 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4251 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009586 33
  • 46.87 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8245 33 34
  • 45.25 (n)
worm
(Caenorhabditis elegans)
Secernentea C09B8.4 33 34
  • 38.18 (n)
T10B11.6 34
  • 21 (a)
OneToMany
T24H10.4 34
  • 21 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G19970 33
  • 43.25 (n)
rice
(Oryza sativa)
Liliopsida Os06g0730300 33
  • 46.77 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4924 34
  • 33 (a)
OneToOne
Species where no ortholog for TMEM53 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TMEM53 Gene

ENSEMBL:
Gene Tree for TMEM53 (if available)
TreeFam:
Gene Tree for TMEM53 (if available)

Paralogs for TMEM53 Gene

No data available for Paralogs for TMEM53 Gene

Variants for TMEM53 Gene

Sequence variations from dbSNP and Humsavar for TMEM53 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000080023 -- 44,659,819(-) A/C intron_variant
rs1000209403 -- 44,667,377(-) G/A intron_variant
rs1000220849 -- 44,655,865(-) C/T intron_variant
rs1000266514 -- 44,675,785(-) C/A upstream_transcript_variant
rs1000303027 -- 44,669,668(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM53 Gene

Variant ID Type Subtype PubMed ID
nsv461395 CNV gain 19166990
nsv546144 CNV gain 21841781

Variation tolerance for TMEM53 Gene

Residual Variation Intolerance Score: 53.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.76; 33.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEM53 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM53

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM53 Gene

Disorders for TMEM53 Gene

Additional Disease Information for TMEM53

No disorders were found for TMEM53 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMEM53 Gene

Publications for TMEM53 Gene

  1. Nuclear membrane proteins with potential disease links found by subtractive proteomics. (PMID: 12958361) Schirmer EC … Gerace L (Science (New York, N.Y.) 2003) 2 3 58
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  3. Proteomic characterization of the human sperm nucleus. (PMID: 21630459) de Mateo S … Oliva R (Proteomics 2011) 3 58
  4. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) Oláh J … Ovádi J (The Journal of biological chemistry 2011) 3 58
  5. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L … Andersson-Svahn H (Molecular & cellular proteomics : MCP 2008) 3 58

Products for TMEM53 Gene

Sources for TMEM53 Gene

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