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Aliases for C19orf54 Gene

Aliases for C19orf54 Gene

  • Chromosome 19 Open Reading Frame 54 2 3 5
  • UPF0692 Protein C19orf54 3

External Ids for C19orf54 Gene

Previous GeneCards Identifiers for C19orf54 Gene

  • GC19M045939
  • GC19M041246
  • GC19M037680

Summaries for C19orf54 Gene

GeneCards Summary for C19orf54 Gene

C19orf54 (Chromosome 19 Open Reading Frame 54) is a Protein Coding gene.

Additional gene information for C19orf54 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 C19orf54 Gene

Genomics for C19orf54 Gene

GeneHancer (GH) Regulatory Elements for C19orf54 Gene

Promoters and enhancers for C19orf54 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
GH19J040747 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 664.1 -1.2 -1208 9.8 CLOCK MLX ZFP64 FEZF1 DMAP1 YBX1 YY1 ZNF213 E2F8 ZNF416 SNRPA C19orf54 HNRNPUL1 ENSG00000269843 CCDC97 COQ8B ZNF780A AKT2 FBL ZNF780B
GH19J040776 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.2 -26.4 -26390 3.3 HDGF PKNOX1 FOXA2 SMAD1 ARNT ZFP64 ARID4B SIN3A ZNF2 IRF4 MIA RAB4B RAB4B-EGLN2 HNRNPUL1 SNRPA CCDC97 PSMC4 FBL C19orf54 CYP2F2P
GH19J040796 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.2 -50.8 -50784 11.8 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 ZNF213 ZNF416 ZNF143 SP3 EGLN2 ENSG00000268797 ZNF780B SNRPA HNRNPUL1 CCDC97 ENSG00000269843 NUMBL ZNF546 COQ8B
GH19J040662 Enhancer 1.3 Ensembl ENCODE 17.1 +87.8 87806 2.8 CLOCK MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 ZNF143 SP3 ZC3H11A PIR47829 SNRPA HNRNPUL1 FBL ENSG00000269843 AKT2 CCDC97 ZNF780A ITPKC RAB4B
GH19J040744 Enhancer 1 Ensembl ENCODE 20.8 +6.3 6301 2.3 PKNOX1 INSM2 MZF1 KLF14 RAD21 ZEB1 ZNF335 GLIS2 ZNF138 ATF7 ITPKC COQ8B SNRPA ENSG00000269843 C19orf54 HNRNPUL1 CCDC97 FBL RNU6-195P AKT2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C19orf54 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C19orf54 gene promoter:

Genomic Locations for C19orf54 Gene

Genomic Locations for C19orf54 Gene
chr19:40,740,856-40,751,553
(GRCh38/hg38)
Size:
10,698 bases
Orientation:
Minus strand
chr19:41,246,761-41,257,458
(GRCh37/hg19)

Genomic View for C19orf54 Gene

Genes around C19orf54 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C19orf54 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C19orf54 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C19orf54 Gene

Proteins for C19orf54 Gene

  • Protein details for C19orf54 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5BKX5-CS054_HUMAN
    Recommended name:
    UPF0692 protein C19orf54
    Protein Accession:
    Q5BKX5
    Secondary Accessions:
    • A8MSZ5
    • B4DNU7

    Protein attributes for C19orf54 Gene

    Size:
    351 amino acids
    Molecular mass:
    37779 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for C19orf54 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C19orf54 Gene

Post-translational modifications for C19orf54 Gene

  • Ubiquitination at posLast=189189
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for C19orf54 Gene

Domains & Families for C19orf54 Gene

Gene Families for C19orf54 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C19orf54 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for C19orf54 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5BKX5

UniProtKB/Swiss-Prot:

CS054_HUMAN :
  • Belongs to the UPF0692 family.
Family:
  • Belongs to the UPF0692 family.
genes like me logo Genes that share domains with C19orf54: view

Function for C19orf54 Gene

Phenotypes From GWAS Catalog for C19orf54 Gene

genes like me logo Genes that share phenotypes with C19orf54: view

Animal Model Products

miRNA for C19orf54 Gene

Clone 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 C19orf54 Gene

Localization for C19orf54 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 C19orf54 gene
Compartment Confidence
golgi apparatus 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 C19orf54 Gene

Pathways & Interactions for C19orf54 Gene

SuperPathways for C19orf54 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C19orf54 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C19orf54 Gene

Drugs & Compounds for C19orf54 Gene

No Compound Related Data Available

Transcripts for C19orf54 Gene

Unigene Clusters for C19orf54 Gene

Chromosome 19 open reading frame 54:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C19orf54 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e · 7f ^ 8a · 8b ^ 9
SP1: - - - - -
SP2: - - -
SP3:
SP4:
SP5: - - - -
SP6: - - -
SP7: -

Relevant External Links for C19orf54 Gene

GeneLoc Exon Structure for
C19orf54
ECgene alternative splicing isoforms for
C19orf54

Expression for C19orf54 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C19orf54 Gene

Protein differential expression in normal tissues from HIPED for C19orf54 Gene

This gene is overexpressed in Liver, secretome (45.1) and Platelet (23.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C19orf54 Gene



Protein tissue co-expression partners for C19orf54 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of C19orf54 Gene:

C19orf54

SOURCE GeneReport for Unigene cluster for C19orf54 Gene:

Hs.585105
genes like me logo Genes that share expression patterns with C19orf54: 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 C19orf54 Gene

Orthologs for C19orf54 Gene

This gene was present in the common ancestor of animals.

Orthologs for C19orf54 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C19H19orf54 33
  • 99.24 (n)
C19orf54 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C1H19orf54 33
  • 85.85 (n)
C19orf54 34
  • 81 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C18H19orf54 33
  • 84.48 (n)
C19orf54 34
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia BC024978 16 34 33
  • 82.56 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C19orf54 34
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C19orf54 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c19orf54 33
  • 60.23 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:153119 33
  • 55.77 (n)
C18H19orf54 34
  • 44 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG33108 34
  • 27 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea K07A1.3 34
  • 24 (a)
OneToOne
Species where no ortholog for C19orf54 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)
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for C19orf54 Gene

ENSEMBL:
Gene Tree for C19orf54 (if available)
TreeFam:
Gene Tree for C19orf54 (if available)

Paralogs for C19orf54 Gene

(1) SIMAP similar genes for C19orf54 Gene using alignment to 6 proteins:

  • CS054_HUMAN
  • M0QXR4_HUMAN
  • M0R0A6_HUMAN
  • M0R2U9_HUMAN
  • M0R322_HUMAN
  • M0R368_HUMAN
genes like me logo Genes that share paralogs with C19orf54: view

No data available for Paralogs for C19orf54 Gene

Variants for C19orf54 Gene

Sequence variations from dbSNP and Humsavar for C19orf54 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000249370 -- 40,747,915(-) A/T intron_variant
rs1000377746 -- 40,749,653(-) G/C 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs1001153037 -- 40,744,501(-) A/C intron_variant
rs1001533596 -- 40,744,142(-) A/G coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs1001582179 -- 40,743,357(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for C19orf54 Gene

Variant ID Type Subtype PubMed ID
nsv1116331 CNV deletion 24896259
nsv1160619 CNV deletion 26073780

Variation tolerance for C19orf54 Gene

Residual Variation Intolerance Score: 89.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.64; 31.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C19orf54 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C19orf54

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C19orf54 Gene

Disorders for C19orf54 Gene

Additional Disease Information for C19orf54

No disorders were found for C19orf54 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C19orf54 Gene

Publications for C19orf54 Gene

  1. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  3. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H … Mohammed S (Journal of proteome research 2013) 4 58
  4. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PMID: 20068231) Olsen JV … Mann M (Science signaling 2010) 4 58
  5. A quantitative atlas of mitotic phosphorylation. (PMID: 18669648) Dephoure N … Gygi SP (Proceedings of the National Academy of Sciences of the United States of America 2008) 4 58

Products for C19orf54 Gene

Sources for C19orf54 Gene

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