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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 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
GH17F044101 1.4 Ensembl ENCODE 16.1 -34.3 -34252 12.5 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 ASB16-AS1 DHX8 HMGN1P29 LINC00910 ASB16 NAGS G6PC3 C17orf53 ENSG00000267002 ENSG00000267340
GH17F044094 1.7 FANTOM5 Ensembl ENCODE 12.1 -45.0 -45006 4.2 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF263 SP3 SP5 ASB16 G6PC3 TMEM101 ASB16-AS1 LSM12 RNU6-131P C17orf53 HDAC5 ENSG00000221044 PYY
GH17F044076 1.3 Ensembl ENCODE 10.9 -64.5 -64491 1.2 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 NBR1 ASB16-AS1 NAGS ENSG00000221044 HDAC5 DHX8 G6PC3 RNU6-131P C17orf53 TMUB2
GH17F044085 1.2 Ensembl ENCODE 11.5 -54.9 -54945 2.2 PKNOX1 ARID4B SIN3A GLIS2 FOS ZNF263 SP3 SP5 REST MIER2 ASB16 HDAC5 RNU6-131P C17orf53 FAM171A2 ASB16-AS1 PIR36554 GC17P044094 PIR35706
GH17F044115 0.8 ENCODE 11.8 -26.1 -26139 0.2 CTCF ARID4B RAD21 TEAD3 ZNF143 SMC3 GATAD2A MAZ ZNF654 ZBTB2 ASB16 RNU6-131P C17orf53 ENSG00000221044 LOC105371789 HDAC5
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00001347060 294 1601 HDGF ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 KLF13

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

Post-translational modifications for C17orf53 Gene

  • Ubiquitination at Lys 540
  • Modification sites at PhosphoSitePlus

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

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
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 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: Q8N3J3-CQ053_HUMAN ENSP00000313500 for C17orf53 Gene via MINT STRING IID

Gene Ontology (GO) - Biological Process for C17orf53 Gene

None

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

Transcripts for C17orf53 Gene

Unigene Clusters for C17orf53 Gene

Chromosome 17 open reading frame 53:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for C17orf53 Gene

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

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

NURSA nuclear receptor signaling pathways regulating expression of C17orf53 Gene:

C17orf53

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 , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia C17H17orf53 34
  • 99.17 (n)
C17orf53 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C9H17orf53 34
  • 82.36 (n)
C17orf53 35
  • 68 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C19H17orf53 34
  • 81.99 (n)
C17orf53 35
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC303566 34
  • 76.74 (n)
mouse
(Mus musculus)
Mammalia BC030867 34 16 35
  • 76.71 (n)
oppossum
(Monodelphis domestica)
Mammalia C17orf53 35
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C17orf53 35
  • 42 (a)
OneToOne
chicken
(Gallus gallus)
Aves C17orf53 35
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C17orf53 35
  • 40 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii C3H17orf53 35
  • 39 (a)
OneToOne
wufd15b08 34
Species where no ortholog for C17orf53 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)
  • 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
rs111400723 -- 44,154,850(+) ATTTG(C/T)AGGAG intron-variant, nc-transcript-variant, downstream-variant-500B
rs111477455 -- 44,148,533(+) CCTTG(A/G)GACCT nc-transcript-variant, reference, missense
rs111635923 -- 44,144,565(+) GCCAC(C/T)GTGCC intron-variant
rs111830516 -- 44,142,292(+) GCTGT(C/G)GTCAG intron-variant, upstream-variant-2KB
rs112098881 -- 44,152,887(+) CCCTA(C/T)ACAAG intron-variant

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

Variant ID Type Subtype PubMed ID
esv3640642 CNV loss 21293372
nsv1146669 OTHER inversion 26484159
nsv833454 CNV loss 17160897
nsv833455 CNV loss 17160897

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 46 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. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3 64
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64
  5. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) KA+rlA+ K. … GAPrlich D. (Elife 2015) 3 64

Products for C17orf53 Gene

Sources for C17orf53 Gene

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