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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.

No data available for Entrez Gene 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

Regulatory Elements for TMEM53 Gene

Enhancers for TMEM53 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F044706 1.3 Ensembl ENCODE 11.7 -32.9 -32903 2.6 ATF1 MLX ARID4B DMAP1 YY1 ZNF121 SLC30A9 ZNF143 FOS ZNF263 DMAP1 C1orf228 TMEM53 RNU5D-1 TOE1 KIF2C ZSWIM5 RNF220 UROD GC01P044699
GH01F044696 0.8 Ensembl ENCODE 12.2 -22.9 -22893 2.6 POLR2A IKZF1 EED ETV6 EBF1 SPI1 C1orf228 RNU5F-1 TMEM53 KIF2C BTBD19 GC01P044699
GH01F044694 0.6 ENCODE 12.1 -20.5 -20456 0.2 CTCF CBFB RAD21 EED ZKSCAN8 IKZF1 CREM RXRB C1orf228 RNU5F-1 TMEM53 GC01P044699
GH01F044664 0.5 Ensembl 0.4 +9.8 9807 0.8 CTCF POLR2A HLF EGR2 RNU5F-1 ERI3 DMAP1 C1orf228 GC01P044661 TMEM53
GH01F044662 0.4 ENCODE 0.4 +12.5 12465 0.2 SCRT1 MIXL1 GC01P044661 TMEM53
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMEM53 on UCSC Golden Path with GeneCards custom track

Promoters for TMEM53 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000669858 208 1601 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 FOS KLF13

Genomic Location for TMEM53 Gene

Chromosome:
1
Start:
44,635,238 bp from pter
End:
44,674,608 bp from pter
Size:
39,371 bases
Orientation:
Minus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TMEM53 Gene

Domains & Families for TMEM53 Gene

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

No data available for Gene Families for TMEM53 Gene

Function for TMEM53 Gene

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

Animal Model Products

miRNA for TMEM53 Gene

miRTarBase miRNAs that target TMEM53

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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

Gene Ontology (GO) - Cellular Components for TMEM53 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 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

Selected Interacting proteins: Q6P2H8-TMM53_HUMAN for TMEM53 Gene via IID

Symbol External ID(s) Details
APP
TMEM53

Gene Ontology (GO) - Biological Process for TMEM53 Gene

None

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

Transcripts for TMEM53 Gene

Unigene Clusters for TMEM53 Gene

Transmembrane protein 53:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 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 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
genes like me logo Genes that share expression patterns with TMEM53: view

No data available for mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.4 (n)
dog
(Canis familiaris)
Mammalia TMEM53 34 35
  • 88.93 (n)
cow
(Bos Taurus)
Mammalia TMEM53 34 35
  • 87.97 (n)
rat
(Rattus norvegicus)
Mammalia Tmem53 34
  • 85.21 (n)
mouse
(Mus musculus)
Mammalia Tmem53 34 16 35
  • 84.36 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM53 35
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM53 35
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM53 34 35
  • 61.98 (n)
lizard
(Anolis carolinensis)
Reptilia TMEM53 35
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem53 34
  • 54.68 (n)
Str.10692 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.23166 34
zebrafish
(Danio rerio)
Actinopterygii tmem53 34 35
  • 56.43 (n)
Dr.13710 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4251 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009586 34
  • 46.87 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8245 34 35
  • 45.25 (n)
worm
(Caenorhabditis elegans)
Secernentea C09B8.4 34 35
  • 38.18 (n)
T10B11.6 35
  • 21 (a)
OneToMany
T24H10.4 35
  • 21 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G19970 34
  • 43.25 (n)
rice
(Oryza sativa)
Liliopsida Os06g0730300 34
  • 46.77 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4924 35
  • 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 Sequence Context AA Info Type
rs1045800 -- 44,654,504(-) CCCCA(A/C)AACCT utr-variant-3-prime
rs111327384 -- 44,661,888(+) CAGAC(-/CTCAT)CTCAT intron-variant
rs111335140 -- 44,671,608(+) GAAAA(A/T)GAAAA intron-variant
rs111434876 -- 44,666,857(+) TGTTT(-/T)GTTTT intron-variant
rs111511153 -- 44,660,332(+) AGCTG(A/G)GGTGG 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)

Relevant External Links 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

Relevant External Links for TMEM53

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 E.C. … Gerace L. (Science 2003) 2 3 64
  2. Proteomic characterization of the human sperm nucleus. (PMID: 21630459) de Mateo S. … Oliva R. (Proteomics 2011) 3 64
  3. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 3 64
  4. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L. … Andersson-Svahn H. (Mol. Cell Proteomics 2008) 3 64
  5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P. … Vidal M. (Genomics 2007) 3 64

Products for TMEM53 Gene

Sources for TMEM53 Gene

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