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 4
  • Gm117 2 3
  • FLJ44982 2
  • C1orf52 5
  • 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 Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C1orf52 Gene

Genomics for C1orf52 Gene

GeneHancer (GH) Regulatory Elements Pubs

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 CraniofacialAtlas 258.7 +0.4 398 3.8 TBP SP1 MXD4 CEBPA MNT SMAD5 ETS1 MBD2 ZNF217 POLR2A C1orf52 HSALNG0004861 ENSG00000223653 BCL10 DDAH1 HSALNG0004859 HSALNG0004860 SYDE2
GH01J085575 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.5 -321.1 -321124 11.4 CHD2 TBP ZBTB10 FEZF1 CEBPA MNT DEK IKZF1 SMAD5 ZNF217 DDAH1 CCN1 ENSG00000272691 HSALNG0004872 MN308959 ZNHIT6 ODF2L C1orf52 BCL10 ENSG00000282057
GH01J085224 Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10 +34.3 34276 2.4 ZSCAN16 FEZF1 ZNF217 MNT IKZF1 HES1 MBD2 BHLHE40 ZBTB7B NONO LOC105378821 lnc-WDR63-2 C1orf52 SYDE2 piR-42694-010
GH01J085262 Enhancer 0.4 ENCODE dbSUPER 8.7 -3.5 -3540 1 RFX1 ENSG00000223254 HSALNG0004862 C1orf52 HSALNG0004861 BCL10
GH01J085264 Enhancer 0.4 ENCODE dbSUPER 7.5 -4.6 -4636 0.2 PKNOX1 ENSG00000223254 HSALNG0004862 C1orf52 HSALNG0004861 BCL10
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C1orf52

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

Genomic Locations for C1orf52 Gene

Latest Assembly
9,725 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
9,710 bases
Minus strand

(GRCh37/hg19 by Ensembl)
9,717 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

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:
  • BCL10-associated gene protein (CA052_HUMAN)

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

Phenotypes From GWAS Catalog 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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C1orf52

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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 1

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:0005654 nucleoplasm 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

PathCards logo

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

9 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C1orf52

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

Expression for C1orf52 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C1orf52

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

Primer products for research

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 31
  • 100 (a)
C1H1orf52 30
  • 99.82 (n)
(Canis familiaris)
Mammalia C1orf52 31
  • 94 (a)
C6H1orf52 30
  • 89.74 (n)
(Bos Taurus)
Mammalia C1orf52 31
  • 93 (a)
C3H1orf52 30
  • 90.29 (n)
(Rattus norvegicus)
Mammalia RGD1560065 30
  • 82.92 (n)
(Mus musculus)
Mammalia 2410004B18Rik 30 17 31
  • 82.04 (n)
(Monodelphis domestica)
Mammalia C1orf52 31
  • 76 (a)
(Gallus gallus)
Aves C8H1ORF52 30 31
  • 67.05 (n)
(Anolis carolinensis)
Reptilia C1orf52 31
  • 57 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia c1orf52 30
  • 71.01 (n)
(Danio rerio)
Actinopterygii zgc:65873 30
  • 58.05 (n)
CZv9_NA991H1orf52 31
  • 44 (a)
zgc65873 30
Species where no ortholog for C1orf52 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for C1orf52 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C1orf52 Gene

Disorders for C1orf52 Gene

Additional Disease Information for C1orf52

Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

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
  2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  4. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PMID: 15592455) Rush J … Comb MJ (Nature biotechnology 2005) 3 4
  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

Products for C1orf52 Gene

Sources for C1orf52 Gene