Free for academic non-profit institutions. Other users need a Commercial license

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. GO annotations related to this gene include poly(A) RNA binding.

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 C1orf52 Gene

Genomics for C1orf52 Gene

Regulatory Elements for C1orf52 Gene

Enhancers for C1orf52 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
GH01F085325 1.7 FANTOM5 Ensembl ENCODE 18 -69.6 -69574 8.1 PKNOX1 ATF1 MLX ARID4B SIN3A DMAP1 ZNF48 SLC30A9 FOS SP5 C1orf52 DDAH1 CYR61 BCL10 GC01P085392
GH01F084478 1.1 ENCODE 17.9 +779.9 779865 2.3 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 ZNF416 ZNF143 SYDE2 C1orf52 RPF1 LOC105378818 MCOLN3 GNG5 CTBS SPATA1
GH01F085258 1 ENCODE 8.8 -0.1 -97 2.8 ATF1 PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF48 ETS1 LOC646626 C1orf52 BCL10 DDAH1 ENSG00000223254
GH01F085262 0.4 ENCODE 8.8 -3.5 -3545 1.0 RFX1 C1orf52 ENSG00000223254
GH01F085264 0.4 ENCODE 7.6 -4.6 -4641 0.2 PKNOX1 C1orf52 ENSG00000223254 LOC646626
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C1orf52 on UCSC Golden Path with GeneCards custom track

Promoters for C1orf52 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for C1orf52 Gene

85,249,953 bp from pter
85,259,672 bp from pter
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 Lys 78
  • 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

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

No data available for Gene Families for C1orf52 Gene

Function for C1orf52 Gene

Gene Ontology (GO) - Molecular Function for C1orf52 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with C1orf52: view

Phenotypes for C1orf52 Gene

genes like me logo Genes that share phenotypes with C1orf52: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 2

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

Interacting Proteins for C1orf52 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: ENSP00000419417 Q8N6N3-CA052_HUMAN for C1orf52 Gene via STRING IID

Gene Ontology (GO) - Biological Process for C1orf52 Gene


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

Transcripts for C1orf52 Gene

Unigene Clusters for C1orf52 Gene

Chromosome 1 open reading frame 52:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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.
genes like me logo Genes that share expression patterns with C1orf52: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners 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 35
  • 100 (a)
C1H1orf52 34
  • 99.82 (n)
(Canis familiaris)
Mammalia C1orf52 35
  • 94 (a)
C6H1orf52 34
  • 89.74 (n)
(Bos Taurus)
Mammalia C1orf52 35
  • 93 (a)
C3H1orf52 34
  • 90.29 (n)
(Rattus norvegicus)
Mammalia RGD1560065 34
  • 82.92 (n)
(Mus musculus)
Mammalia 2410004B18Rik 34 16 35
  • 82.04 (n)
(Monodelphis domestica)
Mammalia C1orf52 35
  • 76 (a)
(Gallus gallus)
Aves C8H1ORF52 34 35
  • 67.05 (n)
(Anolis carolinensis)
Reptilia C1orf52 35
  • 57 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia c1orf52 34
  • 71.01 (n)
(Danio rerio)
Actinopterygii zgc:65873 34
  • 58.05 (n)
CZv9_NA991H1orf52 35
  • 44 (a)
zgc65873 34
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 Sequence Context AA Info Type
rs10158486 -- 85,254,324(+) CATCA(C/T)GTTCA intron-variant
rs10493763 -- 85,261,535(+) AATTT(C/T)GCATG upstream-variant-2KB
rs10710331 -- 85,253,773(+) TGGTT(-/A)AAAAA intron-variant
rs1077996 -- 85,254,405(-) CAAAA(A/G)AAAAA intron-variant
rs10782546 -- 85,251,124(+) GCCTA(A/G)GTAAA nc-transcript-variant, utr-variant-3-prime

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)

Relevant External Links 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

Relevant External Links for C1orf52

Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:

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 J.D. (Gene 2002) 2 3 4 64
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  4. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PMID: 15592455) Rush J. … Comb M.J. (Nat. Biotechnol. 2005) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for C1orf52 Gene

Sources for C1orf52 Gene

Loading form....