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Aliases for FAM53A Gene

Aliases for FAM53A Gene

  • Family With Sequence Similarity 53 Member A 2 3 5
  • Dorsal Neural-Tube Nuclear Protein 3 4
  • Family With Sequence Similarity 53, Member A 2
  • Protein FAM53A 3
  • DNTNP 3

External Ids for FAM53A Gene

Summaries for FAM53A Gene

GeneCards Summary for FAM53A Gene

FAM53A (Family With Sequence Similarity 53 Member A) is a Protein Coding gene. An important paralog of this gene is FAM53B.

UniProtKB/Swiss-Prot for FAM53A Gene

  • May play an important role in neural development; the dorsomedial roof of the third ventricle.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM53A Gene

Genomics for FAM53A Gene

Regulatory Elements for FAM53A Gene

Enhancers for FAM53A 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
GH04G001710 1.5 FANTOM5 ENCODE 30.4 -29.1 -29111 5.7 HDGF PKNOX1 ARNT CREB3L1 MLX AGO1 ZFP64 ARID4B SIN3A DMAP1 FAM53A HAUS3 NELFA CRIPAK TMEM129 SLBP ENSG00000272588 NSD2 ENSG00000270195 PIR44595
GH04G001751 1.7 FANTOM5 Ensembl ENCODE dbSUPER 24.2 -68.2 -68152 2.8 ZFP64 ARID4B DMAP1 ZNF48 GLIS2 ZNF263 SP3 SP5 NFYC MXD4 FAM53A TACC3 FGFR3 GC04M001751 GC04P001740
GH04G001745 1.5 Ensembl ENCODE dbSUPER 26.9 -63.7 -63749 5.1 FOXA2 MLX AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 FAM53A TMEM129 TACC3 SLBP GC04M001751 GC04P001740
GH04G001719 1.3 ENCODE dbSUPER 30.3 -38.0 -37959 5.4 HDGF PKNOX1 CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 FAM53A TMEM129 TACC3 SLBP CRIPAK ENSG00000233799 GC04P001740
GH04G001757 1.7 FANTOM5 Ensembl ENCODE dbSUPER 22.9 -76.4 -76440 7.0 HDGF HDAC1 PKNOX1 FUS MLX ARID4B NFXL1 ZNF48 RAD21 GLIS2 TMEM129 FAM53A LOC100129917 NELFA CTBP1-AS2 IDUA CRIPAK SLBP FGFR3 GC04M001751
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FAM53A on UCSC Golden Path with GeneCards custom track

Promoters for FAM53A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000164856 13 1801 ATF1 CREB3L1 AGO1 ZNF48 ZNF121 GLIS2 ZNF143 ZNF207 KLF13 ZNF592

Genomic Location for FAM53A Gene

Chromosome:
4
Start:
1,574,062 bp from pter
End:
1,684,313 bp from pter
Size:
110,252 bases
Orientation:
Minus strand

Genomic View for FAM53A Gene

Genes around FAM53A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM53A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM53A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM53A Gene

Proteins for FAM53A Gene

  • Protein details for FAM53A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6NSI3-FA53A_HUMAN
    Recommended name:
    Protein FAM53A
    Protein Accession:
    Q6NSI3
    Secondary Accessions:
    • Q6ZUL5

    Protein attributes for FAM53A Gene

    Size:
    398 amino acids
    Molecular mass:
    42585 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FAM53A Gene

Post-translational modifications for FAM53A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FAM53A Gene

Domains & Families for FAM53A Gene

Protein Domains for FAM53A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM53A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6NSI3

UniProtKB/Swiss-Prot:

FA53A_HUMAN :
  • Belongs to the FAM53 family.
Family:
  • Belongs to the FAM53 family.
genes like me logo Genes that share domains with FAM53A: view

No data available for Gene Families for FAM53A Gene

Function for FAM53A Gene

Molecular function for FAM53A Gene

UniProtKB/Swiss-Prot Function:
May play an important role in neural development; the dorsomedial roof of the third ventricle.
genes like me logo Genes that share phenotypes with FAM53A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for FAM53A Gene

Localization for FAM53A Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM53A Gene

Nucleus. Note=Subnuclear distribution. {ECO:0000250}.

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 FAM53A gene
Compartment Confidence
nucleus 5
cytoskeleton 2
cytosol 2

Gene Ontology (GO) - Cellular Components for FAM53A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with FAM53A: view

Pathways & Interactions for FAM53A Gene

SuperPathways for FAM53A Gene

No Data Available

Interacting Proteins for FAM53A Gene

Selected Interacting proteins: Q6NSI3-FA53A_HUMAN for FAM53A Gene via IID

Symbol External ID(s) Details
APP

Gene Ontology (GO) - Biological Process for FAM53A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM53A Gene

Drugs & Compounds for FAM53A Gene

No Compound Related Data Available

Transcripts for FAM53A Gene

Unigene Clusters for FAM53A Gene

Family with sequence similarity 53, member A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM53A Gene

No ASD Table

Relevant External Links for FAM53A Gene

GeneLoc Exon Structure for
FAM53A
ECgene alternative splicing isoforms for
FAM53A

Expression for FAM53A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM53A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FAM53A Gene

This gene is overexpressed in Testis (x12.0).

Protein differential expression in normal tissues from HIPED for FAM53A Gene

This gene is overexpressed in Fetal testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAM53A Gene



Protein tissue co-expression partners for FAM53A Gene

NURSA nuclear receptor signaling pathways regulating expression of FAM53A Gene:

FAM53A

SOURCE GeneReport for Unigene cluster for FAM53A Gene:

Hs.143314
genes like me logo Genes that share expression patterns with FAM53A: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM53A Gene

Orthologs for FAM53A Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM53A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM53A 34 35
  • 97.74 (n)
mouse
(Mus musculus)
Mammalia Fam53a 34 16 35
  • 75.49 (n)
rat
(Rattus norvegicus)
Mammalia Fam53a 34
  • 75.24 (n)
dog
(Canis familiaris)
Mammalia FAM53A 35
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM53A 35
  • 52 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAM53A 35
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM53A 34 35
  • 62.53 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia fam53a 34
  • 60.6 (n)
Species where no ortholog for FAM53A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for FAM53A Gene

ENSEMBL:
Gene Tree for FAM53A (if available)
TreeFam:
Gene Tree for FAM53A (if available)

Paralogs for FAM53A Gene

Paralogs for FAM53A Gene

genes like me logo Genes that share paralogs with FAM53A: view

Variants for FAM53A Gene

Sequence variations from dbSNP and Humsavar for FAM53A Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1000003136 -- 1,677,118(+) AGAAG(C/G)GGGGC intron-variant
rs1000071735 -- 1,640,016(+) GCCCA(A/C)TTCAG intron-variant, downstream-variant-500B, utr-variant-3-prime
rs1000084510 -- 1,665,340(+) AAAAA(C/T)AGGTT intron-variant
rs1000131468 -- 1,659,113(+) GCCTA(C/T)ACACG intron-variant
rs1000142259 -- 1,606,447(+) GCTAA(A/G)ATAGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FAM53A Gene

Variant ID Type Subtype PubMed ID
dgv5081n100 CNV gain 25217958
dgv8901n54 CNV loss 21841781
esv1210969 CNV insertion 17803354
esv1444353 CNV insertion 17803354
esv1465412 CNV insertion 17803354
esv1776644 CNV insertion 17803354
esv23460 CNV loss 19812545
esv2726825 CNV deletion 23290073
esv2726826 CNV deletion 23290073
esv2726827 CNV deletion 23290073
esv2726828 CNV deletion 23290073
esv2726830 CNV deletion 23290073
esv2726831 CNV deletion 23290073
esv2759218 CNV gain 17122850
esv3396266 CNV duplication 20981092
esv3563245 CNV deletion 23714750
esv3563246 CNV deletion 23714750
esv3575670 CNV gain 25503493
nsv1074668 CNV deletion 25765185
nsv1117052 CNV deletion 24896259
nsv1118993 CNV deletion 24896259
nsv1123739 CNV deletion 24896259
nsv1129711 CNV tandem duplication 24896259
nsv1142598 CNV deletion 24896259
nsv428434 CNV gain 18775914
nsv470000 CNV loss 18288195
nsv508989 CNV insertion 20534489
nsv593316 CNV gain 21841781
nsv593320 CNV loss 21841781
nsv593334 CNV loss 21841781
nsv949754 CNV deletion 24416366
nsv949755 CNV deletion 24416366

Variation tolerance for FAM53A Gene

Residual Variation Intolerance Score: 96.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.87; 79.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAM53A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM53A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM53A Gene

Disorders for FAM53A Gene

Relevant External Links for FAM53A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM53A

No disorders were found for FAM53A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM53A Gene

Publications for FAM53A Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H. … Mohammed S. (J. Proteome Res. 2013) 4 64
  4. 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
  5. A germline-specific class of small RNAs binds mammalian Piwi proteins. (PMID: 16751776) Girard A. … Carmell M.A. (Nature 2006) 3 64

Products for FAM53A Gene

Sources for FAM53A Gene

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