Aliases for C19orf53 Gene

Aliases for C19orf53 Gene

  • Chromosome 19 Open Reading Frame 53 2 3 5
  • Leydig Cell Tumor 10 KDa Protein Homolog 2 3 4
  • HSPC023 3
  • LYDG10 3

External Ids for C19orf53 Gene

Previous GeneCards Identifiers for C19orf53 Gene

  • GC19P013747
  • GC19P013885
  • GC19P013456

Summaries for C19orf53 Gene

GeneCards Summary for C19orf53 Gene

C19orf53 (Chromosome 19 Open Reading Frame 53) is a Protein Coding gene. Diseases associated with C19orf53 include Leydig Cell Tumor.

UniProtKB/Swiss-Prot Summary for C19orf53 Gene

Additional gene information for C19orf53 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C19orf53 Gene

Genomics for C19orf53 Gene

GeneHancer (GH) Regulatory Elements for C19orf53 Gene

Promoters and enhancers for C19orf53 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 C19orf53 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C19orf53

Top Transcription factor binding sites by QIAGEN in the C19orf53 gene promoter:
  • AhR
  • AML1a
  • AREB6
  • Arnt
  • E2F
  • E2F-1
  • Pax-4a
  • RFX1
  • RP58
  • Zic3

Genomic Locations for C19orf53 Gene

Genomic Locations for C19orf53 Gene
chr19:13,774,443-13,778,773
(GRCh38/hg38)
Size:
4,331 bases
Orientation:
Plus strand
chr19:13,884,982-13,889,587
(GRCh37/hg19)
Size:
4,606 bases
Orientation:
Plus strand

Genomic View for C19orf53 Gene

Genes around C19orf53 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C19orf53 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C19orf53 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C19orf53 Gene

Proteins for C19orf53 Gene

  • Protein details for C19orf53 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UNZ5-L10K_HUMAN
    Recommended name:
    Leydig cell tumor 10 kDa protein homolog
    Protein Accession:
    Q9UNZ5
    Secondary Accessions:
    • B2R4J9

    Protein attributes for C19orf53 Gene

    Size:
    99 amino acids
    Molecular mass:
    10577 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C19orf53 Gene

Post-translational modifications for C19orf53 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C19orf53 Gene

No data available for DME Specific Peptides for C19orf53 Gene

Domains & Families for C19orf53 Gene

Gene Families for C19orf53 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C19orf53 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C19orf53 Gene

GenScript: Design optimal peptide antigens:
  • Leydig cell tumor 10 kDa protein homolog (L10K_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UNZ5

UniProtKB/Swiss-Prot:

L10K_HUMAN :
  • Belongs to the UPF0390 family.
Family:
  • Belongs to the UPF0390 family.
genes like me logo Genes that share domains with C19orf53: view

Function for C19orf53 Gene

Molecular function for C19orf53 Gene

UniProtKB/Swiss-Prot Function:
May have a potential role in hypercalcemia of malignancy.

Phenotypes From GWAS Catalog for C19orf53 Gene

genes like me logo Genes that share phenotypes with C19orf53: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C19orf53 Gene

Localization for C19orf53 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 C19orf53 gene
Compartment Confidence
nucleus 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for C19orf53 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
genes like me logo Genes that share ontologies with C19orf53: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for C19orf53 Gene

Pathways & Interactions for C19orf53 Gene

PathCards logo

SuperPathways for C19orf53 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C19orf53 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C19orf53 Gene

Drugs & Compounds for C19orf53 Gene

No Compound Related Data Available

Transcripts for C19orf53 Gene

mRNA/cDNA for C19orf53 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C19orf53 Gene

No ASD Table

Relevant External Links for C19orf53 Gene

GeneLoc Exon Structure for
C19orf53

Expression for C19orf53 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C19orf53 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for C19orf53 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (51.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C19orf53 Gene



Protein tissue co-expression partners for C19orf53 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C19orf53

SOURCE GeneReport for Unigene cluster for C19orf53 Gene:

Hs.231616

Evidence on tissue expression from TISSUES for C19orf53 Gene

  • Blood(4.2)
  • Intestine(2.5)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with C19orf53: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C19orf53 Gene

Orthologs for C19orf53 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C19orf53 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C19orf53 31
  • 100 (a)
OneToOne
C19H19orf53 30
  • 99.66 (n)
dog
(Canis familiaris)
Mammalia C20H19orf53 30
  • 83.33 (n)
C19orf53 31
  • 81 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C7H19orf53 31 31 30
  • 82.08 (n)
OneToMany
mouse
(Mus musculus)
Mammalia D8Ertd738e 17 31 30
  • 80.09 (n)
rat
(Rattus norvegicus)
Mammalia LOC288913 30
  • 75.27 (n)
oppossum
(Monodelphis domestica)
Mammalia C19orf53 31
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C19orf53 31
  • 66 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii C1H19orf53 31
  • 59 (a)
OneToOne
Species where no ortholog for C19orf53 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)
  • 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)
  • 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)

Evolution for C19orf53 Gene

ENSEMBL:
Gene Tree for C19orf53 (if available)
TreeFam:
Gene Tree for C19orf53 (if available)

Paralogs for C19orf53 Gene

Pseudogenes.org Pseudogenes for C19orf53 Gene

genes like me logo Genes that share paralogs with C19orf53: view

No data available for Paralogs for C19orf53 Gene

Variants for C19orf53 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C19orf53 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs10104 - p.Lys39Arg

Additional dbSNP identifiers (rs#s) for C19orf53 Gene

Structural Variations from Database of Genomic Variants (DGV) for C19orf53 Gene

Variant ID Type Subtype PubMed ID
esv3893166 CNV gain 25118596
nsv833757 CNV loss 17160897

Variation tolerance for C19orf53 Gene

Residual Variation Intolerance Score: 88.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.11; 93.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C19orf53 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C19orf53

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C19orf53 Gene

Disorders for C19orf53 Gene

MalaCards: The human disease database

(1) MalaCards diseases for C19orf53 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
leydig cell tumor
  • leydig cell neoplasm
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C19orf53

genes like me logo Genes that share disorders with C19orf53: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C19orf53 Gene

Publications for C19orf53 Gene

  1. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang QH … Chen Z (Genome research 2000) 2 3 4 54
  2. 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 54
  3. PTPN14 regulates Roquin2 stability by tyrosine dephosphorylation. (PMID: 30209976) Choi J … Busino L (Cell cycle (Georgetown, Tex.) 2018) 3 54
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C … Emili A (Nature 2015) 3 54

Products for C19orf53 Gene

Sources for C19orf53 Gene