Aliases for C19orf54 Gene

Aliases for C19orf54 Gene

  • Chromosome 19 Open Reading Frame 54 2 3 5
  • UPF0692 Protein C19orf54 3 4

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 Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C19orf54 Gene

Genomics for C19orf54 Gene

GeneHancer (GH) Regulatory Elements for C19orf54 Gene

Promoters and enhancers for C19orf54 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C19orf54 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C19orf54

Top Transcription factor binding sites by QIAGEN in the C19orf54 gene promoter:
  • ATF-2
  • c-Jun
  • C/EBPbeta
  • Ik-2
  • RORalpha1
  • SRF
  • SRF (504 AA)
  • STAT1
  • STAT1alpha
  • STAT1beta

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)
Size:
10,698 bases
Orientation:
Minus strand

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 Lys189
  • 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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C19orf54 Gene

GenScript: Design optimal peptide antigens:
  • UPF0692 protein C19orf54 (CS054_HUMAN)

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

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

PathCards logo

SuperPathways for C19orf54 Gene

No Data Available

Interacting Proteins for C19orf54 Gene

;

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

mRNA/cDNA for C19orf54 Gene

6 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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

Expression for C19orf54 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 30
  • 99.24 (n)
C19orf54 31
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C1H19orf54 30
  • 85.85 (n)
C19orf54 31
  • 81 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C18H19orf54 30
  • 84.48 (n)
C19orf54 31
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia BC024978 17 31 30
  • 82.56 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C19orf54 31
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C19orf54 31
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c19orf54 30
  • 60.23 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:153119 30
  • 55.77 (n)
C18H19orf54 31
  • 44 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG33108 31
  • 27 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea K07A1.3 31
  • 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

Additional dbSNP identifiers (rs#s) for C19orf54 Gene

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 and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP 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 54
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 54
  3. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H … Mohammed S (Journal of proteome research 2013) 4 54
  4. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PMID: 20068231) Olsen JV … Mann M (Science signaling 2010) 4 54
  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 54

Products for C19orf54 Gene

  • Biorbyt antibodies for C19orf54

Sources for C19orf54 Gene