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Aliases for C1orf54 Gene

Aliases for C1orf54 Gene

  • Chromosome 1 Open Reading Frame 54 2 3 5

External Ids for C1orf54 Gene

Previous GeneCards Identifiers for C1orf54 Gene

  • GC01P147059
  • GC01P148507
  • GC01P150240
  • GC01P121623

Summaries for C1orf54 Gene

GeneCards Summary for C1orf54 Gene

C1orf54 (Chromosome 1 Open Reading Frame 54) is a Protein Coding gene.

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 C1orf54 Gene

Genomics for C1orf54 Gene

Regulatory Elements for C1orf54 Gene

Enhancers for C1orf54 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
GH01F150301 0.2 ENCODE 11.7 +34.5 34455 2.0 KLF1 PKNOX1 KLF17 FOSL1 ZFHX2 POLR2A PATZ1 ZNF600 KLF8 EGR2 MRPS21 C1orf54 APH1A CA14 ADAMTSL4 SEMA6C ENSG00000278939 LOC105371434
GH01F150271 0.5 ENCODE 11.5 +4.5 4504 2.1 CTCF PKNOX1 ZFHX2 ZNF316 GLIS2 FOXK2 ZNF366 PATZ1 SCRT2 EED C1orf54 SEMA6C MRPS21 APH1A CIART
GH01F150213 1.3 FANTOM5 Ensembl ENCODE 10.8 -54.4 -54395 1.6 ATF1 PKNOX1 YY1 ELK1 ZNF207 NFYC ZHX2 TBX21 ZNF518A ZNF592 ANP32E RNU2-17P CIART CA14 C1orf54 APH1A PLEKHO1 MTMR11 TARS2 RPRD2
GH01F150362 0.6 ENCODE 10.7 +96.6 96607 5.2 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 ZNF2 YY1 SLC30A9 SETDB1 SF3B4 PRPF3 UBE2D3P3 GOLPH3L MRPS21 HIST2H2AB APH1A CTSK SCNM1
GH01F150476 1.2 Ensembl ENCODE 10.5 +209.5 209486 2.2 HDAC1 ZNF133 FEZF1 ZKSCAN1 ZNF121 ZFHX2 ARID3A ZNF366 POLR2A ZSCAN29 ECM1 MRPS21 ADAMTSL4 LOC100289061 ADAMTSL4-AS1 APH1A C1orf54 HORMAD1 PRUNE1 RNU6-884P
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around C1orf54 on UCSC Golden Path with GeneCards custom track

Promoters for C1orf54 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000544731 700 1801 ARNT CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 KLF13

Genomic Location for C1orf54 Gene

Chromosome:
1
Start:
150,268,200 bp from pter
End:
150,280,924 bp from pter
Size:
12,725 bases
Orientation:
Plus strand

Genomic View for C1orf54 Gene

Genes around C1orf54 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C1orf54 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C1orf54 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C1orf54 Gene

Proteins for C1orf54 Gene

  • Protein details for C1orf54 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WWF1-CA054_HUMAN
    Recommended name:
    Uncharacterized protein C1orf54
    Protein Accession:
    Q8WWF1
    Secondary Accessions:
    • Q9H5P3

    Protein attributes for C1orf54 Gene

    Size:
    131 amino acids
    Molecular mass:
    14923 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C1orf54 Gene

Post-translational modifications for C1orf54 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C1orf54 Gene

No data available for DME Specific Peptides for C1orf54 Gene

Domains & Families for C1orf54 Gene

Protein Domains for C1orf54 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C1orf54: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C1orf54 Gene

Function for C1orf54 Gene

genes like me logo Genes that share phenotypes with C1orf54: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C1orf54 Gene

Localization for C1orf54 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C1orf54 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C1orf54 Gene COMPARTMENTS Subcellular localization image for C1orf54 gene
Compartment Confidence
extracellular 3
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for C1orf54 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with C1orf54: view

Pathways & Interactions for C1orf54 Gene

SuperPathways for C1orf54 Gene

No Data Available

Interacting Proteins for C1orf54 Gene

Selected Interacting proteins: Q8WWF1-CA054_HUMAN for C1orf54 Gene via IID

Gene Ontology (GO) - Biological Process for C1orf54 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C1orf54 Gene

Transcripts for C1orf54 Gene

Unigene Clusters for C1orf54 Gene

Chromosome 1 open reading frame 54:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for C1orf54 Gene

No ASD Table

Relevant External Links for C1orf54 Gene

GeneLoc Exon Structure for
C1orf54
ECgene alternative splicing isoforms for
C1orf54

Expression for C1orf54 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C1orf54 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of C1orf54 Gene:

C1orf54

SOURCE GeneReport for Unigene cluster for C1orf54 Gene:

Hs.91283
genes like me logo Genes that share expression patterns with C1orf54: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for C1orf54 Gene

Orthologs for C1orf54 Gene

This gene was present in the common ancestor of mammals.

Orthologs for C1orf54 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C1ORF54 35
  • 98 (a)
OneToOne
C1H1orf54 34
  • 91.09 (n)
dog
(Canis familiaris)
Mammalia C17H1orf54 34
  • 87.53 (n)
cow
(Bos Taurus)
Mammalia C3H1orf54 34
  • 83.33 (n)
C1orf54 35
  • 73 (a)
OneToOne
mouse
(Mus musculus)
Mammalia BC028528 34 16 35
  • 75.32 (n)
oppossum
(Monodelphis domestica)
Mammalia C1orf54 35
  • 30 (a)
OneToOne
Species where no ortholog for C1orf54 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)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • 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)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for C1orf54 Gene

ENSEMBL:
Gene Tree for C1orf54 (if available)
TreeFam:
Gene Tree for C1orf54 (if available)

Paralogs for C1orf54 Gene

No data available for Paralogs for C1orf54 Gene

Variants for C1orf54 Gene

Sequence variations from dbSNP and Humsavar for C1orf54 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs10157197 -- 150,278,225(+) GAGGA(A/G)AAAAA intron-variant
rs10494266 -- 150,273,149(+) ACAAG(A/G)TGACA intron-variant
rs10788873 -- 150,278,123(+) CACTC(A/T)TCAGG intron-variant
rs111335655 -- 150,270,918(+) GTGAA(C/T)CCAGG intron-variant, upstream-variant-2KB
rs111373261 -- 150,278,591(+) TTAAT(G/T)AATGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for C1orf54 Gene

Variant ID Type Subtype PubMed ID
nsv1009508 CNV loss 25217958
nsv1011223 CNV gain 25217958

Variation tolerance for C1orf54 Gene

Residual Variation Intolerance Score: 34.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.26; 40.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C1orf54 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C1orf54

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C1orf54 Gene

Disorders for C1orf54 Gene

Relevant External Links for C1orf54

Genetic Association Database (GAD)
C1orf54
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C1orf54

No disorders were found for C1orf54 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C1orf54 Gene

Publications for C1orf54 Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. 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
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
  5. Biological insights from 108 schizophrenia-associated genetic loci. (PMID: 25056061) (Nature 2014) 3 64

Products for C1orf54 Gene

Sources for C1orf54 Gene

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