The protein encoded by this gene belongs to the FAM53 protein family. FAM53 protein family members bind to a transcriptional regulator that modulates cell proliferation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017] See more...

Aliases for FAM53C Gene

Aliases for FAM53C Gene

  • Family With Sequence Similarity 53 Member C 2 3 5
  • Protein FAM53C 3 4
  • C5orf6 3 4
  • Family With Sequence Similarity 53, Member C 2
  • Chromosome 5 Open Reading Frame 6 2
  • Putative Nuclear Protein 3
  • FAM53C 5

External Ids for FAM53C Gene

Previous HGNC Symbols for FAM53C Gene

  • C5orf6

Previous GeneCards Identifiers for FAM53C Gene

  • GC05P137702
  • GC05P137703
  • GC05P137673
  • GC05P132864

Summaries for FAM53C Gene

Entrez Gene Summary for FAM53C Gene

  • The protein encoded by this gene belongs to the FAM53 protein family. FAM53 protein family members bind to a transcriptional regulator that modulates cell proliferation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]

GeneCards Summary for FAM53C Gene

FAM53C (Family With Sequence Similarity 53 Member C) is a Protein Coding gene. An important paralog of this gene is FAM53A.

Additional gene information for FAM53C Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM53C Gene

Genomics for FAM53C Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FAM53C Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM53C on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM53C

Top Transcription factor binding sites by QIAGEN in the FAM53C gene promoter:
  • ATF-2
  • NF-kappaB
  • NF-kappaB1

Genomic Locations for FAM53C Gene

Genomic Locations for FAM53C Gene
chr5:138,331,935-138,349,729
(GRCh38/hg38)
Size:
17,795 bases
Orientation:
Plus strand
chr5:137,667,624-137,685,418
(GRCh37/hg19)
Size:
17,795 bases
Orientation:
Plus strand

Genomic View for FAM53C Gene

Genes around FAM53C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM53C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM53C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM53C Gene

Proteins for FAM53C Gene

  • Protein details for FAM53C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NYF3-FA53C_HUMAN
    Recommended name:
    Protein FAM53C
    Protein Accession:
    Q9NYF3
    Secondary Accessions:
    • B2RDJ5
    • D3DQB9

    Protein attributes for FAM53C Gene

    Size:
    392 amino acids
    Molecular mass:
    43091 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FAM53C Gene

Post-translational modifications for FAM53C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAM53C Gene

No data available for DME Specific Peptides for FAM53C Gene

Domains & Families for FAM53C Gene

Gene Families for FAM53C Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM53C Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM53C Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM53C (FA53C_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NYF3

UniProtKB/Swiss-Prot:

FA53C_HUMAN :
  • Belongs to the FAM53 family.
Family:
  • Belongs to the FAM53 family.
genes like me logo Genes that share domains with FAM53C: view

Function for FAM53C Gene

Phenotypes From GWAS Catalog for FAM53C Gene

Gene Ontology (GO) - Molecular Function for FAM53C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20936779
genes like me logo Genes that share ontologies with FAM53C: view
genes like me logo Genes that share phenotypes with FAM53C: view

Animal Model Products

CRISPR Products

miRNA for FAM53C Gene

miRTarBase miRNAs that target FAM53C

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM53C

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM53C Gene

Localization for FAM53C Gene

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 FAM53C gene
Compartment Confidence
nucleus 4
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for FAM53C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
genes like me logo Genes that share ontologies with FAM53C: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for FAM53C Gene

Pathways & Interactions for FAM53C Gene

PathCards logo

SuperPathways for FAM53C Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM53C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006606 protein import into nucleus IBA 21873635
genes like me logo Genes that share ontologies with FAM53C: view

No data available for Pathways by source and SIGNOR curated interactions for FAM53C Gene

Drugs & Compounds for FAM53C Gene

No Compound Related Data Available

Transcripts for FAM53C Gene

mRNA/cDNA for FAM53C Gene

4 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM53C

Alternative Splicing Database (ASD) splice patterns (SP) for FAM53C Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c · 4d · 4e ^ 5a · 5b ^ 6a · 6b
SP1: -
SP2: - - - - - -
SP3: -
SP4: - -
SP5: - - -
SP6: - - - - - - - - -
SP7: - - -
SP8:
SP9: - - - -

Relevant External Links for FAM53C Gene

GeneLoc Exon Structure for
FAM53C

Expression for FAM53C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAM53C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FAM53C Gene

This gene is overexpressed in Whole Blood (x8.4).

Protein differential expression in normal tissues from HIPED for FAM53C Gene

This gene is overexpressed in Fetal heart (35.2) and Testis (33.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FAM53C Gene



Protein tissue co-expression partners for FAM53C Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM53C

SOURCE GeneReport for Unigene cluster for FAM53C Gene:

Hs.54056

Evidence on tissue expression from TISSUES for FAM53C Gene

  • Nervous system(4.9)
  • Eye(4.1)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with FAM53C: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM53C Gene

Orthologs for FAM53C Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM53C Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FAM53C 30 31
  • 99.49 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FAM53C 30 31
  • 94.98 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FAM53C 30 31
  • 94.98 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fam53c 30
  • 93.33 (n)
Mouse
(Mus musculus)
Mammalia Fam53c 30 17 31
  • 93.11 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FAM53C 31
  • 79 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FAM53C 31
  • 48 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fam53c 30
  • 58.29 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100002393 30
  • 50.87 (n)
FAM53C 31
  • 32 (a)
OneToOne
Species where no ortholog for FAM53C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Chicken (Gallus gallus)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)

Evolution for FAM53C Gene

ENSEMBL:
Gene Tree for FAM53C (if available)
TreeFam:
Gene Tree for FAM53C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAM53C: view image

Paralogs for FAM53C Gene

Paralogs for FAM53C Gene

genes like me logo Genes that share paralogs with FAM53C: view

Variants for FAM53C Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM53C Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs386352301 Uncertain Significance: not provided 138,345,178(+) C/T MISSENSE_VARIANT,INTRON_VARIANT
rs35360938 - p.Arg21Cys

Additional dbSNP identifiers (rs#s) for FAM53C Gene

Structural Variations from Database of Genomic Variants (DGV) for FAM53C Gene

Variant ID Type Subtype PubMed ID
esv3606920 CNV loss 21293372
nsv1033604 CNV gain 25217958

Variation tolerance for FAM53C Gene

Residual Variation Intolerance Score: 27.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.42; 27.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM53C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM53C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM53C Gene

Disorders for FAM53C Gene

No disorders were found for FAM53C Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM53C Gene

Publications for FAM53C Gene

  1. cDNA cloning and genomic structure of three genes localized to human chromosome band 5q31 encoding potential nuclear proteins. (PMID: 11087669) Lai F … Le Beau MM (Genomics 2000) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Transcript map and comparative analysis of the 1.5-Mb commonly deleted segment of human 5q31 in malignant myeloid diseases with a del(5q). (PMID: 11161817) Lai F … Le Beau MM (Genomics 2001) 2 3
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for FAM53C Gene

Sources for FAM53C Gene