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Aliases for C1orf53 Gene

Aliases for C1orf53 Gene

  • Chromosome 1 Open Reading Frame 53 2 3 5

External Ids for C1orf53 Gene

Previous GeneCards Identifiers for C1orf53 Gene

  • GC01P194602
  • GC01P196138
  • GC01P169027

Summaries for C1orf53 Gene

GeneCards Summary for C1orf53 Gene

C1orf53 (Chromosome 1 Open Reading Frame 53) is a Protein Coding gene.

Additional gene information for C1orf53 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 C1orf53 Gene

Genomics for C1orf53 Gene

GeneHancer (GH) Regulatory Elements for C1orf53 Gene

Promoters and enhancers for C1orf53 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I197901 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 568.1 +0.1 132 1.6 HDGF PKNOX1 CLOCK ARNT ZFP64 SIN3A DMAP1 ZNF2 YY1 POLR2B C1orf53 LHX9
GH01I198120 Enhancer 1.3 FANTOM5 Ensembl ENCODE 9.3 +219.7 219657 3.5 PKNOX1 ZNF133 RAD21 RFX5 TCF12 RCOR1 FOS USF2 CEBPB SP1 C1orf53 NEK7 GC01P198155 LHX9
GH01I197781 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.1 -119.4 -119398 2.7 HDAC1 MEIS2 TEAD4 TAL1 ZBTB40 CHAMP1 ZNF664 GATA3 FOS SMARCE1 DENND1B LHX9 C1orf53
GH01I198117 Enhancer 1.1 FANTOM5 Ensembl ENCODE 9.5 +215.6 215592 1.6 ATF1 ZBTB21 JUN BRCA1 RFX5 POLR2A SCRT2 RCOR1 FOS ATF7 C1orf53 ATP6V1G3 NEK7 GC01P198155 LHX9
GH01I198465 Enhancer 0.9 Ensembl ENCODE 10.7 +563.0 562992 0.9 CTCF CEBPG BRCA1 RAD21 RFX5 GATA3 ZNF143 SMC3 SMARCA5 ZNF654 ATP6V1G3 LHX9 C1orf53 LOC105371677 GC01P198285
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C1orf53 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C1orf53 gene promoter:

Genomic Locations for C1orf53 Gene

Genomic Locations for C1orf53 Gene
chr1:197,902,552-197,907,367
(GRCh38/hg38)
Size:
4,816 bases
Orientation:
Plus strand
chr1:197,871,682-197,876,497
(GRCh37/hg19)

Genomic View for C1orf53 Gene

Genes around C1orf53 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C1orf53 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C1orf53 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C1orf53 Gene

Proteins for C1orf53 Gene

  • Protein details for C1orf53 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VUE5-CA053_HUMAN
    Recommended name:
    Uncharacterized protein C1orf53
    Protein Accession:
    Q5VUE5
    Secondary Accessions:
    • A1L4N2
    • Q5VUE4

    Protein attributes for C1orf53 Gene

    Size:
    145 amino acids
    Molecular mass:
    15483 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAH71759.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for C1orf53 Gene

Post-translational modifications for C1orf53 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C1orf53 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C1orf53 Gene

Domains & Families for C1orf53 Gene

Gene Families for C1orf53 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C1orf53 Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C1orf53: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C1orf53 Gene

Function for C1orf53 Gene

Phenotypes From GWAS Catalog for C1orf53 Gene

Phenotypes for C1orf53 Gene

genes like me logo Genes that share phenotypes with C1orf53: view

miRNA for C1orf53 Gene

miRTarBase miRNAs that target C1orf53

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 C1orf53 Gene

Localization for C1orf53 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 C1orf53 gene
Compartment Confidence
mitochondrion 3
extracellular 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Aggresome (2)
  • Vesicles (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C1orf53 Gene

Pathways & Interactions for C1orf53 Gene

SuperPathways for C1orf53 Gene

No Data Available

Interacting Proteins for C1orf53 Gene

Gene Ontology (GO) - Biological Process for C1orf53 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C1orf53 Gene

Drugs & Compounds for C1orf53 Gene

No Compound Related Data Available

Transcripts for C1orf53 Gene

mRNA/cDNA for C1orf53 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(13) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for C1orf53 Gene

Chromosome 1 open reading frame 53:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C1orf53 Gene

No ASD Table

Relevant External Links for C1orf53 Gene

GeneLoc Exon Structure for
C1orf53
ECgene alternative splicing isoforms for
C1orf53

Expression for C1orf53 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C1orf53 Gene

mRNA differential expression in normal tissues according to GTEx for C1orf53 Gene

This gene is overexpressed in Liver (x4.7).

Protein differential expression in normal tissues from HIPED for C1orf53 Gene

This gene is overexpressed in Gallbladder (36.5) and Adrenal (32.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C1orf53 Gene



Protein tissue co-expression partners for C1orf53 Gene

NURSA nuclear receptor signaling pathways regulating expression of C1orf53 Gene:

C1orf53

SOURCE GeneReport for Unigene cluster for C1orf53 Gene:

Hs.61329

mRNA Expression by UniProt/SwissProt for C1orf53 Gene:

Q5VUE5-CA053_HUMAN
Tissue specificity: Expressed in retina and retinoblastoma.
genes like me logo Genes that share expression patterns with C1orf53: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for C1orf53 Gene

Orthologs for C1orf53 Gene

This gene was present in the common ancestor of animals.

Orthologs for C1orf53 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C1orf53 34
  • 100 (a)
OneToOne
C1H1orf53 33
  • 99.31 (n)
rat
(Rattus norvegicus)
Mammalia RGD1566099 33
  • 81.42 (n)
cow
(Bos Taurus)
Mammalia LOC781739 33
  • 79.06 (n)
dog
(Canis familiaris)
Mammalia C7H1orf53 33
  • 77.44 (n)
C1orf53 34
  • 68 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 2310009B15Rik 33 16 34
  • 76.96 (n)
oppossum
(Monodelphis domestica)
Mammalia C1orf53 34
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1orf53 34
  • 45 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii C22H1orf53 34
  • 41 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mrpl-14 34
  • 21 (a)
OneToOne
Species where no ortholog for C1orf53 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)
  • lizard (Anolis carolinensis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for C1orf53 Gene

ENSEMBL:
Gene Tree for C1orf53 (if available)
TreeFam:
Gene Tree for C1orf53 (if available)

Paralogs for C1orf53 Gene

No data available for Paralogs for C1orf53 Gene

Variants for C1orf53 Gene

Sequence variations from dbSNP and Humsavar for C1orf53 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000414344 -- 197,904,806(+) A/C intron_variant
rs1000575352 -- 197,902,957(+) G/A intron_variant
rs1001201315 -- 197,904,378(+) A/C intron_variant
rs1002184663 -- 197,904,916(+) C/ intron_variant
rs1002781814 -- 197,906,739(+) TTT/TT intron_variant

Structural Variations from Database of Genomic Variants (DGV) for C1orf53 Gene

Variant ID Type Subtype PubMed ID
dgv558n100 CNV gain 25217958
esv2762214 CNV gain 21179565

Variation tolerance for C1orf53 Gene

Residual Variation Intolerance Score: 80% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.80; 33.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C1orf53 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C1orf53

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C1orf53 Gene

Disorders for C1orf53 Gene

Additional Disease Information for C1orf53

No disorders were found for C1orf53 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C1orf53 Gene

Publications for C1orf53 Gene

  1. KIF14 is a candidate oncogene in the 1q minimal region of genomic gain in multiple cancers. (PMID: 15897902) Corson TW … Gallie BL (Oncogene 2005) 2 3 4 58
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  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 58
  4. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H … Mohammed S (Journal of proteome research 2013) 4 58
  5. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. (PMID: 23128233) Jostins L … Cho JH (Nature 2012) 3 58

Products for C1orf53 Gene

Sources for C1orf53 Gene

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