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Aliases for FAM53C Gene

Aliases for FAM53C Gene

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

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

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 FAM53B.

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 FAM53C Gene

Genomics for FAM53C Gene

Regulatory Elements for FAM53C Gene

Enhancers for FAM53C 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
GH05F138350 0.5 Ensembl ENCODE 18.1 +21.0 21004 5.5 PKNOX1 ARID4B SIN3A FEZF1 ZNF2 YY1 SLC30A9 CBX5 ZNF143 FOS HNRNPA0 CDC23 KDM3B FAM53C RPL7P19 EGR1 BRD8 KIF20A GFRA3 REEP2
GH05F138366 1.1 Ensembl ENCODE 17 +37.3 37266 6.0 ZNF121 ZNF316 PKNOX1 SCRT2 EMSY WT1 MAFK ATF2 NR2F2 FAM53C CDC25C BRD8 KIF20A HSPA9 GFRA3 KDM3B REEP2 GC05P138377
GH05F138231 0.5 Ensembl 11.8 -100.7 -100734 0.4 KLF1 FEZF1 ZNF664 PATZ1 PRDM10 ZNF600 MAZ NFIA HLF REST GFRA3 FAM53C CDC25C BRD8 KIF20A REEP2 GC05M138210 CDC23
GH05F138463 0.7 FANTOM5 ENCODE 6.8 +133.3 133314 4.1 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A ZNF2 YY1 ZNF143 HNRNPA0 CDC23 KDM3B EGR1 ETF1 FAM13B NME5 FAM53C REEP2 LRRTM2
GH05F138330 0.2 ENCODE 5.3 -0.4 -379 2.1 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 FOS ZNF263 HNRNPA0 KDM3B GFRA3 FAM53C LOC105379194 GC05P138279
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around FAM53C on UCSC Golden Path with GeneCards custom track

Promoters for FAM53C Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001414339 -235 1801 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 FOS ZNF263

Genomic Location for FAM53C Gene

Chromosome:
5
Start:
138,331,935 bp from pter
End:
138,349,729 bp from pter
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

Protein Domains for FAM53C Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM53C Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for FAM53C Gene

Function 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

Inhibitory RNA Products

Flow Cytometry Products

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
Jensen Localization Image for FAM53C Gene COMPARTMENTS Subcellular localization image for FAM53C gene
Compartment Confidence
nucleus 3
cytosol 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for FAM53C Gene

Pathways & Interactions for FAM53C Gene

SuperPathways for FAM53C Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM53C Gene

None

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

Transcripts for FAM53C Gene

Unigene Clusters for FAM53C Gene

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

Inhibitory RNA Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms 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, PaxDb, MaxQB, and MOPED for FAM53C Gene



Protein tissue co-expression partners for FAM53C Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FAM53C Gene:

FAM53C

SOURCE GeneReport for Unigene cluster for FAM53C Gene:

Hs.54056
genes like me logo Genes that share expression patterns with FAM53C: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.49 (n)
cow
(Bos Taurus)
Mammalia FAM53C 34 35
  • 94.98 (n)
dog
(Canis familiaris)
Mammalia FAM53C 34 35
  • 94.98 (n)
rat
(Rattus norvegicus)
Mammalia Fam53c 34
  • 93.33 (n)
mouse
(Mus musculus)
Mammalia Fam53c 34 16 35
  • 93.11 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM53C 35
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM53C 35
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam53c 34
  • 58.29 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100002393 34
  • 50.87 (n)
FAM53C 35
  • 32 (a)
OneToOne
Species where no ortholog for FAM53C 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)
  • 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 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)

Evolution for FAM53C Gene

ENSEMBL:
Gene Tree for FAM53C (if available)
TreeFam:
Gene Tree for FAM53C (if available)

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 from dbSNP and Humsavar for FAM53C Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs386352301 Uncertain significance 138,345,178(+) GCCCC(C/G/T)CAAAG reference, missense
rs10038360 -- 138,348,362(+) CCTTG(A/G)TAGGG utr-variant-3-prime
rs10045661 -- 138,343,953(+) TTGTC(A/G)TTTGC intron-variant
rs10074910 -- 138,336,424(+) cacca(C/T)gccaa intron-variant, upstream-variant-2KB
rs1052648 -- 138,349,043(+) CCTTA(A/G)GGGAG utr-variant-3-prime

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)

Relevant External Links 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

Relevant External Links for FAM53C

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM53C

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 M.M. (Genomics 2000) 2 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. 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
  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 M.M. (Genomics 2001) 2 3 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for FAM53C Gene

Sources for FAM53C Gene

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