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Aliases for C1orf52 Gene

Aliases for C1orf52 Gene

  • Chromosome 1 Open Reading Frame 52 2 3 5
  • BCL10-Associated Gene Protein 3 4
  • UPF0690 Protein C1orf52 3
  • Gm117 3
  • BAG 4

External Ids for C1orf52 Gene

Previous GeneCards Identifiers for C1orf52 Gene

  • GC01M085428
  • GC01M085715
  • GC01M083826

Summaries for C1orf52 Gene

GeneCards Summary for C1orf52 Gene

C1orf52 (Chromosome 1 Open Reading Frame 52) is a Protein Coding gene.

Additional gene information for C1orf52 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 C1orf52 Gene

Genomics for C1orf52 Gene

GeneHancer (GH) Regulatory Elements for C1orf52 Gene

Promoters and enhancers for C1orf52 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J085258 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 658.8 -0.1 -97 2.8 PKNOX1 MLX ARID4B SIN3A DMAP1 YY1 POLR2B E2F8 ZNF143 SP3 C1orf52 LOC646626 BCL10 DDAH1 ENSG00000223254
GH01J085575 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.5 -321.1 -321129 11.4 FEZF1 DMAP1 YY1 ZNF143 ZNF548 MCM3 SP3 ZFP41 MEF2D ZNF610 DDAH1 CYR61 ODF2L ZNHIT6 ENSG00000232622 LOC100420166 C1orf52 BCL10 GC01P085583 ENSG00000272691
GH01J086154 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 10.8 -896.4 -896400 2.9 SIN3A GLIS2 ZNF202 YY2 MCM5 ZNF518A ZSCAN16 GLIS1 AEBP2 SP7 COL24A1 ODF2L ZNHIT6 BCL10 C1orf52 GC01M086135
GH01J085520 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.9 -264.4 -264429 7.6 HDGF PKNOX1 ZNF133 NEUROD1 FEZF1 ZNF2 BRCA1 ZNF121 FOS ATF7 ZNHIT6 CYR61 DDAH1 C1orf52 ENSG00000282057 ENSG00000273264
GH01J085262 Enhancer 0.5 ENCODE dbSUPER 8.8 -3.5 -3545 1 RFX1 ENSG00000223254 C1orf52
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C1orf52 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C1orf52 gene promoter:
  • HEN1
  • FAC1
  • Nkx6-1
  • TBP
  • POU3F2 (N-Oct-5b)
  • POU3F2 (N-Oct-5a)
  • POU3F2
  • Roaz

Genomic Locations for C1orf52 Gene

Genomic Locations for C1orf52 Gene
9,720 bases
Minus strand
9,720 bases
Minus strand

Genomic View for C1orf52 Gene

Genes around C1orf52 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C1orf52 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C1orf52 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C1orf52 Gene

Proteins for C1orf52 Gene

  • Protein details for C1orf52 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    UPF0690 protein C1orf52
    Protein Accession:
    Secondary Accessions:
    • B3KX89
    • Q8TDK5
    • Q8TDK6

    Protein attributes for C1orf52 Gene

    182 amino acids
    Molecular mass:
    20599 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for C1orf52 Gene


neXtProt entry for C1orf52 Gene

Post-translational modifications for C1orf52 Gene

  • Ubiquitination at Lys78
  • Modification sites at PhosphoSitePlus

Other Protein References for C1orf52 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C1orf52 Gene

Domains & Families for C1orf52 Gene

Gene Families for C1orf52 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C1orf52 Gene


Suggested Antigen Peptide Sequences for C1orf52 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the UPF0690 family.
  • Belongs to the UPF0690 family.
genes like me logo Genes that share domains with C1orf52: view

Function for C1orf52 Gene

Gene Ontology (GO) - Molecular Function for C1orf52 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
genes like me logo Genes that share ontologies with C1orf52: view
genes like me logo Genes that share phenotypes with C1orf52: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C1orf52 Gene

Localization for C1orf52 Gene

Subcellular locations from

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 C1orf52 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for C1orf52 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
genes like me logo Genes that share ontologies with C1orf52: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for C1orf52 Gene

Pathways & Interactions for C1orf52 Gene

SuperPathways for C1orf52 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C1orf52 Gene


No data available for Pathways by source and SIGNOR curated interactions for C1orf52 Gene

Drugs & Compounds for C1orf52 Gene

No Compound Related Data Available

Transcripts for C1orf52 Gene

mRNA/cDNA for C1orf52 Gene

Unigene Clusters for C1orf52 Gene

Chromosome 1 open reading frame 52:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C1orf52 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b
SP2: -

Relevant External Links for C1orf52 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for C1orf52 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C1orf52 Gene

Protein differential expression in normal tissues from HIPED for C1orf52 Gene

This gene is overexpressed in Cervix (44.9) and Lung (19.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C1orf52 Gene

NURSA nuclear receptor signaling pathways regulating expression of C1orf52 Gene:


SOURCE GeneReport for Unigene cluster for C1orf52 Gene:


mRNA Expression by UniProt/SwissProt for C1orf52 Gene:

Tissue specificity: Expressed in all tissues tested including heart, placenta, liver, skeletal muscle, kidney and pancreas. Weak expression in brain and lung.

Evidence on tissue expression from TISSUES for C1orf52 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with C1orf52: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for C1orf52 Gene

Orthologs for C1orf52 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C1orf52 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia C1orf52 34
  • 100 (a)
C1H1orf52 33
  • 99.82 (n)
(Canis familiaris)
Mammalia C1orf52 34
  • 94 (a)
C6H1orf52 33
  • 89.74 (n)
(Bos Taurus)
Mammalia C1orf52 34
  • 93 (a)
C3H1orf52 33
  • 90.29 (n)
(Rattus norvegicus)
Mammalia RGD1560065 33
  • 82.92 (n)
(Mus musculus)
Mammalia 2410004B18Rik 16 34 33
  • 82.04 (n)
(Monodelphis domestica)
Mammalia C1orf52 34
  • 76 (a)
(Gallus gallus)
Aves C8H1ORF52 34 33
  • 67.05 (n)
(Anolis carolinensis)
Reptilia C1orf52 34
  • 57 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia c1orf52 33
  • 71.01 (n)
(Danio rerio)
Actinopterygii zgc:65873 33
  • 58.05 (n)
CZv9_NA991H1orf52 34
  • 44 (a)
zgc65873 33
Species where no ortholog for C1orf52 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)
  • 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 C1orf52 Gene

Gene Tree for C1orf52 (if available)
Gene Tree for C1orf52 (if available)

Paralogs for C1orf52 Gene

No data available for Paralogs for C1orf52 Gene

Variants for C1orf52 Gene

Sequence variations from dbSNP and Humsavar for C1orf52 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000228999 -- 85,253,500(-) T/C intron_variant
rs1000262593 -- 85,259,715(-) G/A upstream_transcript_variant
rs1001007404 -- 85,256,327(-) T/C intron_variant
rs1001357051 -- 85,253,394(-) C/T intron_variant
rs1001527180 -- 85,259,142(-) C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for C1orf52 Gene

Variant ID Type Subtype PubMed ID
esv34165 CNV loss 18971310
nsv475692 CNV novel sequence insertion 20440878
nsv830459 CNV loss 17160897

Variation tolerance for C1orf52 Gene

Residual Variation Intolerance Score: 42.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.71; 15.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C1orf52 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C1orf52 Gene

Disorders for C1orf52 Gene

Additional Disease Information for C1orf52

No disorders were found for C1orf52 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C1orf52 Gene

Publications for C1orf52 Gene

  1. Identification of six novel genes by experimental validation of GeneMachine predicted genes. (PMID: 11891061) Makalowska I … Carpten JD (Gene 2002) 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. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  4. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PMID: 15592455) Rush J … Comb MJ (Nature biotechnology 2005) 3 4 58
  5. 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

Products for C1orf52 Gene

Sources for C1orf52 Gene

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