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Aliases for C17orf53 Gene

Aliases for C17orf53 Gene

  • Chromosome 17 Open Reading Frame 53 2 3 5

External Ids for C17orf53 Gene

Previous GeneCards Identifiers for C17orf53 Gene

  • GC17P039575
  • GC17P042219
  • GC17P037983

Summaries for C17orf53 Gene

GeneCards Summary for C17orf53 Gene

C17orf53 (Chromosome 17 Open Reading Frame 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 C17orf53 Gene

Genomics for C17orf53 Gene

Regulatory Elements for C17orf53 Gene

Enhancers for C17orf53 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around C17orf53 on UCSC Golden Path with GeneCards custom track

Promoters for C17orf53 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around C17orf53 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the C17orf53 gene promoter:

Genomic Location for C17orf53 Gene

Chromosome:
17
Start:
44,141,906 bp from pter
End:
44,162,477 bp from pter
Size:
20,572 bases
Orientation:
Plus strand

Genomic View for C17orf53 Gene

Genes around C17orf53 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C17orf53 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C17orf53 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C17orf53 Gene

Proteins for C17orf53 Gene

  • Protein details for C17orf53 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N3J3-CQ053_HUMAN
    Recommended name:
    Uncharacterized protein C17orf53
    Protein Accession:
    Q8N3J3
    Secondary Accessions:
    • A8K7A9
    • Q9BWM9
    • Q9HAI1

    Protein attributes for C17orf53 Gene

    Size:
    647 amino acids
    Molecular mass:
    69771 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for C17orf53 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C17orf53 Gene

Proteomics data for C17orf53 Gene at MOPED

Post-translational modifications for C17orf53 Gene

  • Ubiquitination at Lys 540
  • Modification sites at PhosphoSitePlus

Other Protein References for C17orf53 Gene

No data available for DME Specific Peptides for C17orf53 Gene

Domains & Families for C17orf53 Gene

Protein Domains for C17orf53 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C17orf53: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C17orf53 Gene

Function for C17orf53 Gene

Phenotypes for C17orf53 Gene

GenomeRNAi human phenotypes for C17orf53:
genes like me logo Genes that share phenotypes with C17orf53: view

Animal Model Products

CRISPR Products

miRNA for C17orf53 Gene

miRTarBase miRNAs that target C17orf53

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 C17orf53 Gene

Localization for C17orf53 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C17orf53 Gene COMPARTMENTS Subcellular localization image for C17orf53 gene
Compartment Confidence
cytosol 4
nucleus 3
plasma membrane 2
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C17orf53 Gene

Pathways & Interactions for C17orf53 Gene

SuperPathways for C17orf53 Gene

No Data Available

Interacting Proteins for C17orf53 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000313500%0d%0a9606.ENSP00000260983%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000313500 Q8N3J3-CQ053_HUMAN for C17orf53 Gene via STRING UniProtKB

Gene Ontology (GO) - Biological Process for C17orf53 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C17orf53 Gene

Drugs & Compounds for C17orf53 Gene

No Compound Related Data Available

Transcripts for C17orf53 Gene

Unigene Clusters for C17orf53 Gene

Chromosome 17 open reading frame 53:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for C17orf53 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b
SP1: - - - -
SP2:
SP3: - -
SP4:
SP5: -

Relevant External Links for C17orf53 Gene

GeneLoc Exon Structure for
C17orf53
ECgene alternative splicing isoforms for
C17orf53

Expression for C17orf53 Gene

mRNA expression in normal human tissues for C17orf53 Gene

mRNA differential expression in normal tissues according to GTEx for C17orf53 Gene

This gene is overexpressed in Testis (x10.0).

SOURCE GeneReport for Unigene cluster for C17orf53 Gene Hs.437059

genes like me logo Genes that share expression patterns with C17orf53: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for C17orf53 Gene

Orthologs for C17orf53 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C17orf53 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia C19H17orf53 35
  • 81.99 (n)
  • 74.65 (a)
C17orf53 36
  • 72 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C9H17orf53 35
  • 82.36 (n)
  • 72.9 (a)
C17orf53 36
  • 68 (a)
OneToOne
mouse
(Mus musculus)
Mammalia BC030867 35
  • 76.71 (n)
  • 68.87 (a)
BC030867 16
BC030867 36
  • 66 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C17H17orf53 35
  • 99.17 (n)
  • 98.76 (a)
C17orf53 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC303566 35
  • 76.74 (n)
  • 69.43 (a)
oppossum
(Monodelphis domestica)
Mammalia C17orf53 36
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C17orf53 36
  • 42 (a)
OneToOne
chicken
(Gallus gallus)
Aves C17orf53 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C17orf53 36
  • 40 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii wufd15b08 35
C3H17orf53 36
  • 39 (a)
OneToOne
Species with no ortholog for C17orf53:
  • 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)
  • 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C17orf53 Gene

ENSEMBL:
Gene Tree for C17orf53 (if available)
TreeFam:
Gene Tree for C17orf53 (if available)

Paralogs for C17orf53 Gene

No data available for Paralogs for C17orf53 Gene

Variants for C17orf53 Gene

Sequence variations from dbSNP and Humsavar for C17orf53 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs227584 - 44,148,179(-) TGCTG(G/T)CTCTC nc-transcript-variant, reference, missense
rs13726 -- 44,162,193(-) AAGGC(A/G)AGGGT nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs172902 -- 44,152,583(-) CTACA(C/G)ACTCT intron-variant
rs189007 -- 44,155,424(-) TCTTC(C/G)TGCTC intron-variant
rs190135 -- 44,155,806(-) AGGTG(C/G)TGGCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for C17orf53 Gene

Variant ID Type Subtype PubMed ID
nsv833454 CNV Loss 17160897
nsv833455 CNV Loss 17160897
nsv908269 CNV Loss 21882294
nsv908270 CNV Loss 21882294
nsv908271 CNV Loss 21882294

Variation tolerance for C17orf53 Gene

Residual Variation Intolerance Score: 84.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.39; 54.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C17orf53 Gene

Human Gene Mutation Database (HGMD)
C17orf53

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C17orf53 Gene

Disorders for C17orf53 Gene

Relevant External Links for C17orf53

Genetic Association Database (GAD)
C17orf53
Human Genome Epidemiology (HuGE) Navigator
C17orf53
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C17orf53

No disorders were found for C17orf53 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C17orf53 Gene

Publications for C17orf53 Gene

  1. New sequence variants associated with bone mineral density. (PMID: 19079262) Styrkarsdottir U. … Stefansson K. (Nat. Genet. 2009) 3 48 67
  2. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  4. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) KA+rlA+ K. … GAPrlich D. (Elife 2015) 3
  5. A Y2H-seq approach defines the human protein methyltransferase interactome. (PMID: 23455924) Weimann M. … Stelzl U. (Nat. Methods 2013) 3

Products for C17orf53 Gene

Sources for C17orf53 Gene

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