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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
  • 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around C1orf52 on UCSC Golden Path with GeneCards custom track

Genomic Location for C1orf52 Gene

Chromosome:
1
Start:
85,249,953 bp from pter
End:
85,259,672 bp from pter
Size:
9,720 bases
Orientation:
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:
    Q8N6N3-CA052_HUMAN
    Recommended name:
    UPF0690 protein C1orf52
    Protein Accession:
    Q8N6N3
    Secondary Accessions:
    • B3KX89
    • Q8TDK5
    • Q8TDK6

    Protein attributes for C1orf52 Gene

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

    Alternative splice isoforms for C1orf52 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C1orf52 Gene

Proteomics data for C1orf52 Gene at MOPED

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C1orf52 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N6N3

UniProtKB/Swiss-Prot:

CA052_HUMAN :
  • Belongs to the UPF0690 family.
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

Phenotypes for C1orf52 Gene

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

Animal Model Products

CRISPR 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 C1orf52 Gene

Localization for C1orf52 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C1orf52 Gene COMPARTMENTS Subcellular localization image for C1orf52 gene
Compartment Confidence
nucleus 5
cytosol 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components 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)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000419417%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: Q8N6N3-CA052_HUMAN ENSP00000419417 for C1orf52 Gene via MINT STRING I2D

Gene Ontology (GO) - Biological Process for C1orf52 Gene

None

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

Unigene Clusters for C1orf52 Gene

Chromosome 1 open reading frame 52:
Representative Sequences:

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b
SP1:
SP2: -

Relevant External Links for C1orf52 Gene

GeneLoc Exon Structure for
C1orf52
ECgene alternative splicing isoforms for
C1orf52

Expression for C1orf52 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for C1orf52 Gene



SOURCE GeneReport for Unigene cluster for C1orf52 Gene Hs.26226

mRNA Expression by UniProt/SwissProt for C1orf52 Gene

Q8N6N3-CA052_HUMAN
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
cow
(Bos Taurus)
Mammalia C3H1orf52 35
  • 90.29 (n)
  • 92.86 (a)
C1orf52 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C6H1orf52 35
  • 89.74 (n)
  • 93.96 (a)
C1orf52 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 2410004B18Rik 35
  • 82.04 (n)
  • 86.11 (a)
2410004B18Rik 16
2410004B18Rik 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C1H1orf52 35
  • 99.82 (n)
  • 100 (a)
C1orf52 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1560065 35
  • 82.92 (n)
  • 83.95 (a)
oppossum
(Monodelphis domestica)
Mammalia C1orf52 36
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves C8H1ORF52 35
  • 67.05 (n)
  • 65.34 (a)
C8H1ORF52 36
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C1orf52 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c1orf52 35
  • 71.01 (n)
  • 70.19 (a)
zebrafish
(Danio rerio)
Actinopterygii zgc65873 35
zgc:65873 35
  • 58.05 (n)
  • 56.18 (a)
CZv9_NA991H1orf52 36
  • 44 (a)
OneToOne
Species with no ortholog for C1orf52:
  • 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

ENSEMBL:
Gene Tree for C1orf52 (if available)
TreeFam:
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
rs11370 -- 85,250,195(+) TGACA(C/T)GTGGG nc-transcript-variant, utr-variant-3-prime
rs750517 -- 85,254,330(-) TTTGT(A/G)TGAAC intron-variant
rs1077996 -- 85,254,405(-) CAAAA(A/G)AAAAA intron-variant
rs3179654 -- 85,250,026(-) CCTCT(C/T)GCCTT nc-transcript-variant, utr-variant-3-prime
rs4074156 -- 85,253,927(+) AATTG(C/T)AGCTT intron-variant

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

Variant ID Type Subtype PubMed ID
esv34165 CNV Loss 18971310
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

HapMap Linkage Disequilibrium report
C1orf52

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
C1orf52
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 J.D. (Gene 2002) 2 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  4. Proteomic Analysis of the EWS-Fli-1 Interactome Reveals the Role of the Lysosome in EWS-Fli-1 Turnover. (PMID: 24999758) Elzi D.J. … Shiio Y. (J. Proteome Res. 2014) 3
  5. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A. … Hentze M.W. (Cell 2012) 3

Products for C1orf52 Gene

Sources for C1orf52 Gene

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