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Aliases for C19orf54 Gene

Aliases for C19orf54 Gene

  • Chromosome 19 Open Reading Frame 54 2 3 5

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.

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 C19orf54 Gene

Genomics for C19orf54 Gene

Regulatory Elements for C19orf54 Gene

Enhancers for C19orf54 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
GH19F040662 1.4 Ensembl ENCODE 17.1 +87.8 87807 2.8 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 SNRPA FBL CCDC97 ITPKC NUMBL ENSG00000269843 ENSG00000269069 RAB4B C19orf54 RNU6-195P
GH19F040744 1.1 Ensembl ENCODE 20.8 +6.3 6301 2.3 PKNOX1 INSM2 RAD21 ZEB1 GLIS2 ZNF138 THAP11 ZNF263 HCFC1 ZBTB11 ITPKC COQ8B C19orf54 RNU6-195P ENSG00000269843 SNRPA PSMC4 MIA GC19P040724
GH19F040747 1.6 FANTOM5 ENCODE 14.1 -1.2 -1209 9.8 MLX CREB3L1 ZFP64 YBX1 FEZF1 DMAP1 YY1 ZNF416 ZNF143 ZNF263 SNRPA FBL ENSG00000269843 COQ8B ITPKC CCDC97 SERTAD3 ENSG00000269069 CYP2G2P ENSG00000271299
GH19F040665 1.2 Ensembl ENCODE 15.4 +85.1 85067 1.7 SIN3A GATA2 FOS YY2 JUNB ZNF264 MBD2 MAFF ZNF658 SMARCA4 SNRPA FBL CCDC97 C19orf54 ITPKC RNU6-195P CYP2F2P RAB4B RAB4B-EGLN2 EGLN2
GH19F040796 1.8 FANTOM5 Ensembl ENCODE 9.2 -50.8 -50785 11.8 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YBX1 YY1 ZNF416 ZNF143 ZNF548 SNRPA ENSG00000269843 ENSG00000205041 ENSG00000269069 FBL ITPKC CCDC97 COQ8B NUMBL ENSG00000268366
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C19orf54 on UCSC Golden Path with GeneCards custom track

Promoters for C19orf54 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000346651 153 2801 CREB3L1 MLX ZFP64 YBX1 FEZF1 DMAP1 YY1 ZNF416 ZNF143 SP3

Genomic Location for C19orf54 Gene

Chromosome:
19
Start:
40,740,856 bp from pter
End:
40,751,553 bp from pter
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 Lys 189
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for C19orf54 Gene

Domains & Families for C19orf54 Gene

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

No data available for Gene Families for C19orf54 Gene

Function for C19orf54 Gene

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

Animal Model Products

miRNA for C19orf54 Gene

Inhibitory RNA Products

Flow Cytometry 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 and Gene Ontology (GO) - Cellular Components for C19orf54 Gene

Pathways & Interactions for C19orf54 Gene

SuperPathways for C19orf54 Gene

No Data Available

Interacting Proteins for C19orf54 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.ENSP00000367564%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: Q5BKX5-CS054_HUMAN ENSP00000367564 for C19orf54 Gene via IID STRING

Gene Ontology (GO) - Biological Process for C19orf54 Gene

None

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

Transcripts for C19orf54 Gene

Unigene Clusters for C19orf54 Gene

Chromosome 19 open reading frame 54:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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 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

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 34
  • 99.24 (n)
C19orf54 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C1H19orf54 34
  • 85.85 (n)
C19orf54 35
  • 81 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C18H19orf54 34
  • 84.48 (n)
C19orf54 35
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia BC024978 34 16 35
  • 82.56 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C19orf54 35
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C19orf54 35
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c19orf54 34
  • 60.23 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:153119 34
  • 55.77 (n)
C18H19orf54 35
  • 44 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG33108 35
  • 27 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea K07A1.3 35
  • 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:

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 Sequence Context AA Info Type
rs10407351 -- 40,743,470(+) TCAAG(C/T)GATCC intron-variant
rs10408452 -- 40,752,450(+) TAGGA(A/G)CCCAA intron-variant, upstream-variant-2KB
rs10411159 -- 40,740,371(+) TTTCT(C/T)CCAGC intron-variant, downstream-variant-500B, utr-variant-3-prime
rs10422737 -- 40,745,733(+) aacag(C/T)gcgat intron-variant
rs10425581 -- 40,742,288(+) GCTCA(A/G)TACTG intron-variant, nc-transcript-variant, utr-variant-3-prime

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

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

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)

Relevant External Links 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

Relevant External Links for C19orf54

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  2. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H. … Mohammed S. (J. Proteome Res. 2013) 4 64
  3. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PMID: 20068231) Olsen J.V. … Mann M. (Sci. Signal. 2010) 4 64
  4. A quantitative atlas of mitotic phosphorylation. (PMID: 18669648) Dephoure N. … Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008) 4 64
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3 64

Products for C19orf54 Gene

Sources for C19orf54 Gene

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