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Aliases for C1orf50 Gene

Aliases for C1orf50 Gene

  • Chromosome 1 Open Reading Frame 50 2 3 5

External Ids for C1orf50 Gene

Previous GeneCards Identifiers for C1orf50 Gene

  • GC01P042903
  • GC01P043005
  • GC01P043232
  • GC01P041352

Summaries for C1orf50 Gene

GeneCards Summary for C1orf50 Gene

C1orf50 (Chromosome 1 Open Reading Frame 50) is a Protein Coding gene.

Additional gene information for C1orf50 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 C1orf50 Gene

Genomics for C1orf50 Gene

GeneHancer (GH) Regulatory Elements for C1orf50 Gene

Promoters and enhancers for C1orf50 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
GH01I042764 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 -0.8 -794 4 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 POLR2B P3H1 C1orf50 ENSG00000283580 SVBP PPIH SZT2 KDM4A-AS1 MED8 ZNF691 GC01M042747
GH01I042824 Promoter/Enhancer 1.7 EPDnew ENCODE dbSUPER 10.1 +58.1 58098 2 HDGF PKNOX1 SMAD1 ATF1 ARNT NCOA2 TCF12 POLR2B ZNF766 GATA2 ERMAP ENSG00000228192 ZNF691 P3H1 C1orf50 KDM4A SVBP SZT2
GH01I042170 Enhancer 1.1 Ensembl ENCODE 6.4 -593.8 -593791 5.8 ELF3 PKNOX1 ZSCAN4 ZNF133 GLI4 ZNF2 IRF4 RAD21 RARA ZNF766 FOXJ3 C1orf50 SVBP RIMKLA GC01P042164 PIR49391 GC01M042279
GH01I042689 Enhancer 0.7 Ensembl ENCODE 10 -75.1 -75057 5 CTCF ZNF664 ZNF121 GATA3 POLR2A ZNF512 SVBP PPIH C1orf50 ZMYND12 YBX1 GC01P042719
GH01I042737 Enhancer 0.6 Ensembl ENCODE 11.6 -29.8 -29773 0.7 CTCF EBF1 RUNX3 P3H1 C1orf50 YBX1 CLDN19 GC01M042747 GC01M042732 GC01P042719 GC01M042733
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C1orf50 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C1orf50 gene promoter:

Genomic Locations for C1orf50 Gene

Genomic Locations for C1orf50 Gene
chr1:42,767,245-42,775,747
(GRCh38/hg38)
Size:
8,503 bases
Orientation:
Plus strand
chr1:43,232,916-43,263,968
(GRCh37/hg19)

Genomic View for C1orf50 Gene

Genes around C1orf50 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C1orf50 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C1orf50 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C1orf50 Gene

Proteins for C1orf50 Gene

  • Protein details for C1orf50 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BV19-CA050_HUMAN
    Recommended name:
    Uncharacterized protein C1orf50
    Protein Accession:
    Q9BV19

    Protein attributes for C1orf50 Gene

    Size:
    199 amino acids
    Molecular mass:
    21877 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C1orf50 Gene

Post-translational modifications for C1orf50 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C1orf50 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C1orf50 Gene

Domains & Families for C1orf50 Gene

Gene Families for C1orf50 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C1orf50 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C1orf50 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C1orf50: view

No data available for UniProtKB/Swiss-Prot for C1orf50 Gene

Function for C1orf50 Gene

Gene Ontology (GO) - Molecular Function for C1orf50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0042802 identical protein binding IPI 25416956
genes like me logo Genes that share ontologies with C1orf50: view
genes like me logo Genes that share phenotypes with C1orf50: view

miRNA for C1orf50 Gene

miRTarBase miRNAs that target C1orf50

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 C1orf50 Gene

Localization for C1orf50 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 C1orf50 gene
Compartment Confidence
nucleus 3
cytosol 2
cytoskeleton 1
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for C1orf50 Gene

Pathways & Interactions for C1orf50 Gene

SuperPathways for C1orf50 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C1orf50 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C1orf50 Gene

Drugs & Compounds for C1orf50 Gene

No Compound Related Data Available

Transcripts for C1orf50 Gene

mRNA/cDNA for C1orf50 Gene

Unigene Clusters for C1orf50 Gene

Chromosome 1 open reading frame 50:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C1orf50 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c · 5d
SP1: -
SP2: - -
SP3: - - -
SP4:
SP5: -
SP6: - - -

Relevant External Links for C1orf50 Gene

GeneLoc Exon Structure for
C1orf50
ECgene alternative splicing isoforms for
C1orf50

Expression for C1orf50 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C1orf50 Gene

Protein differential expression in normal tissues from HIPED for C1orf50 Gene

This gene is overexpressed in Fetal ovary (17.1) and Peripheral blood mononuclear cells (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for C1orf50 Gene



Protein tissue co-expression partners for C1orf50 Gene

NURSA nuclear receptor signaling pathways regulating expression of C1orf50 Gene:

C1orf50

SOURCE GeneReport for Unigene cluster for C1orf50 Gene:

Hs.148845
genes like me logo Genes that share expression patterns with C1orf50: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for C1orf50 Gene

Orthologs for C1orf50 Gene

This gene was present in the common ancestor of animals.

Orthologs for C1orf50 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C1H1orf50 33
  • 99.66 (n)
C1H1ORF50 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C15H1orf50 33
  • 91.57 (n)
C1orf50 34
  • 74 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C3H1orf50 33
  • 87.8 (n)
C3H1ORF50 34
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia AU022252 33 16 34
  • 85.09 (n)
rat
(Rattus norvegicus)
Mammalia RGD1564804 33
  • 84.25 (n)
oppossum
(Monodelphis domestica)
Mammalia C1orf50 34
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C1orf50 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1ORF50 33
  • 76.52 (n)
C1orf50 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c1orf50 33
  • 68.41 (n)
Str.11019 33
zebrafish
(Danio rerio)
Actinopterygii zgc:112255 33
  • 68.8 (n)
C11H1orf50 34
  • 66 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4067 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008853 33
  • 56.29 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG31800 33 34
  • 54.9 (n)
worm
(Caenorhabditis elegans)
Secernentea C08B11.9 33 34
  • 51.52 (n)
Species where no ortholog for C1orf50 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • 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)

Evolution for C1orf50 Gene

ENSEMBL:
Gene Tree for C1orf50 (if available)
TreeFam:
Gene Tree for C1orf50 (if available)

Paralogs for C1orf50 Gene

(1) SIMAP similar genes for C1orf50 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with C1orf50: view

No data available for Paralogs for C1orf50 Gene

Variants for C1orf50 Gene

Sequence variations from dbSNP and Humsavar for C1orf50 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs200334947 uncertain-significance, Osteogenesis imperfecta type 8 42,766,546(+) C/A upstream_transcript_variant
rs55716016 benign, not specified, Osteogenesis imperfecta type 8 42,766,833(+) C/A upstream_transcript_variant
rs756652599 likely-benign, Osteogenesis imperfecta type 8 42,766,762(+) G/A upstream_transcript_variant
rs761389160 uncertain-significance, Osteogenesis imperfecta type 8 42,766,646(+) A/C upstream_transcript_variant
rs72659347 pathogenic, not provided 42,766,580(+) G/C/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for C1orf50 Gene

Variant ID Type Subtype PubMed ID
esv3577249 CNV gain 25503493
nsv829682 CNV loss 17160897

Variation tolerance for C1orf50 Gene

Residual Variation Intolerance Score: 65.1% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C1orf50 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C1orf50

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C1orf50 Gene

Disorders for C1orf50 Gene

Additional Disease Information for C1orf50

No disorders were found for C1orf50 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C1orf50 Gene

Publications for C1orf50 Gene

  1. 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
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. Pooled-matrix protein interaction screens using Barcode Fusion Genetics. (PMID: 27107012) Yachie N … Roth FP (Molecular systems biology 2016) 3 58
  5. An inter-species protein-protein interaction network across vast evolutionary distance. (PMID: 27107014) Zhong Q … Vidal M (Molecular systems biology 2016) 3 58

Products for C1orf50 Gene

Sources for C1orf50 Gene

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