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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.

Additional gene information for C17orf53 Gene

No data available for Entrez Gene Summary , CIViC 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
GH17H043322 1.7 Ensembl ENCODE dbSUPER 29.3 -818.7 -818744 1.6 MLX ZFP64 YBX1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 NFYC ENSG00000267340 UBTF ASB16-AS1 ENSG00000267002 DHX8 HMGN1P29 TMUB2 NBR2 PLEKHH3 LINC00910
GH17H044101 1.6 Ensembl ENCODE dbSUPER 16.1 -34.3 -34252 12.5 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 ASB16-AS1 ASB16 NAGS G6PC3 HMGN1P29 LINC00910 C17orf53 ENSG00000267002 DHX8 TMUB2
GH17H044094 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.1 -45.0 -45003 4.1 HDGF FOXA2 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 ASB16 G6PC3 TMEM101 ASB16-AS1 LSM12 RNU6-131P C17orf53 HDAC5 ENSG00000221044 PYY
GH17H044344 1.7 FANTOM5 ENCODE dbSUPER 12.9 +205.3 205252 5.5 PKNOX1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF766 ZNF207 UBTF SLC25A39 MEOX1 C17orf53 RUNDC3A-AS1 TMUB2 MAP3K14-AS1 LSM12 RUNDC3A ASB16-AS1
GH17H043168 1.7 FANTOM5 ENCODE dbSUPER 12.9 -970.8 -970840 5 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 NBR2 NBR1 TMEM106A C17orf53 LSM12 LINC00854 CNTD1 DHX8 PLEKHH3 ENSG00000267002
- 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
ENSR00000094722 294 801 HDGF ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 SP3

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

Genomic Locations for C17orf53 Gene

Genomic Locations for C17orf53 Gene
chr17:44,141,906-44,162,477
(GRCh38/hg38)
Size:
20,572 bases
Orientation:
Plus strand
chr17:42,219,274-42,239,844
(GRCh37/hg19)

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 Lys540
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for C17orf53 Gene

Domains & Families for C17orf53 Gene

Gene Families for C17orf53 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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 Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C17orf53 Gene

Function for C17orf53 Gene

Phenotypes From GWAS Catalog 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

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

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

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:

CRISPR Products

Inhibitory RNA Products

Clone 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 CGAP 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 , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 99.17 (n)
C17orf53 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C9H17orf53 33
  • 82.36 (n)
C17orf53 34
  • 68 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C19H17orf53 33
  • 81.99 (n)
C17orf53 34
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC303566 33
  • 76.74 (n)
mouse
(Mus musculus)
Mammalia BC030867 33 16 34
  • 76.71 (n)
oppossum
(Monodelphis domestica)
Mammalia C17orf53 34
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C17orf53 34
  • 42 (a)
OneToOne
chicken
(Gallus gallus)
Aves C17orf53 34
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C17orf53 34
  • 40 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii C3H17orf53 34
  • 39 (a)
OneToOne
wufd15b08 33
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
rs1000279950 -- 44,156,356(+) TCAGC(C/G)TCCCG intron-variant
rs1000500311 -- 44,143,191(+) CCTTG(G/T)CGTCA intron-variant
rs1000529349 -- 44,143,457(+) GCTAA(C/T)ATGGT intron-variant
rs1000580707 -- 44,162,603(+) TTAGA(C/T)TTCTA downstream-variant-500B
rs1000594691 -- 44,156,606(+) CCTAC(C/T)CTTCC intron-variant

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

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

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 (Nature genetics 2009) 3 45 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  4. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A … Stelzl U (Molecular systems biology 2015) 3 60
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 60

Products for C17orf53 Gene

Sources for C17orf53 Gene

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