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    C19orf53 chromosome 19 open reading frame 53 [ Homo sapiens (human) ]

    Gene ID: 28974, updated on 27-Nov-2024

    Summary

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    Official Symbol
    C19orf53provided by HGNC
    Official Full Name
    chromosome 19 open reading frame 53provided by HGNC
    Primary source
    HGNC:HGNC:24991
    See related
    Ensembl:ENSG00000104979 MIM:620685; AllianceGenome:HGNC:24991
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    L10K; Hero11; LYDG10; HSPC023
    Expression
    Ubiquitous expression in ovary (RPKM 36.1), heart (RPKM 32.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C19orf53 in Genome Data Viewer
    Location:
    19p13.13
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (13774456..13778773)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (13900656..13904974)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (13885270..13889587)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14133 Neighboring gene YJU2 splicing factor homolog B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10207 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:13873547-13874063 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10208 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:13876533-13877162 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14134 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14135 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:13885277-13885806 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:13885807-13886335 Neighboring gene methylthioribose-1-phosphate isomerase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:13896673-13897634 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14136 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10209 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10210 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14137 Neighboring gene zinc finger SWIM-type containing 4 Neighboring gene uncharacterized LOC107985334 Neighboring gene MPRA-validated peak3376 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:13928069-13928736 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:13928737-13929405 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:13929406-13930073 Neighboring gene RNA, 7SL, cytoplasmic 619, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:13936598-13937294 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14139 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14140 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10211 Neighboring gene miR-23a/27a/24-2 cluster host gene Neighboring gene microRNA 24-2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Expansion of circulating V gamma 9/V delta 1 T cells in a patient with a syndrome of recurrent fever: evidence for an unusual antigen-driven process leading to selection of recurrent motifs within TCR junctional loops of diverse lengths. Jouen-Beades F, et al. Eur J Immunol, 1999 Oct. PMID 10540346
    2. Advanced single-cell pooled CRISPR screening identifies C19orf53 required for cell proliferation based on mTORC1 regulators. Tang Y, et al. Cell Biol Toxicol, 2022 Feb. PMID 33586084
    3. Visualizing the nucleoplasmic maturation of human pre-60S ribosomal particles. Zhang Y, et al. Cell Res, 2023 Nov. PMID 37491604, Free PMC Article
    4. DNAJA2 and Hero11 mediate similar conformational extension and aggregation suppression of TDP-43. Lam AYW, et al. RNA, 2024 Oct 16. PMID 39117455,
    5. The Human Tau Interactome: Binding to the Ribonucleoproteome, and Impaired Binding of the Proline-to-Leucine Mutant at Position 301 (P301L) to Chaperones and the Proteasome. Gunawardana CG, et al. Mol Cell Proteomics, 2015 Nov. PMID 26269332, Free PMC Article

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DNAJA2 and Hero11 mediate similar conformational extension and aggregation suppression of TDP-43.
      Title: DNAJA2 and Hero11 mediate similar conformational extension and aggregation suppression of TDP-43.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    General protein information

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    Preferred Names
    leydig cell tumor 10 kDa protein homolog

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_014047.3 → NP_054766.1  leydig cell tumor 10 kDa protein homolog

      See identical proteins and their annotated locations for NP_054766.1

      Status: VALIDATED

      Source sequence(s)
      AC008686, AI689503, BC015465, DA768829
      Consensus CDS
      CCDS12298.1
      UniProtKB/Swiss-Prot
      B2R4J9, Q9UNZ5
      Related
      ENSP00000465432.1, ENST00000588234.6
      Conserved Domains (1) summary
      pfam09495
      Location:1 → 72
      DUF2462; Protein of unknown function (DUF2462)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      13774456..13778773
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      13900656..13904974
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UNZ5.1 GenPept UniProtKB/Swiss-Prot:Q9UNZ5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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