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    C19orf47 chromosome 19 open reading frame 47 [ Homo sapiens (human) ]

    Gene ID: 126526, updated on 10-Dec-2024

    Summary

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    Official Symbol
    C19orf47provided by HGNC
    Official Full Name
    chromosome 19 open reading frame 47provided by HGNC
    Primary source
    HGNC:HGNC:26723
    See related
    Ensembl:ENSG00000160392 AllianceGenome:HGNC:26723
    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
    Summary
    Located in nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in heart (RPKM 2.7), testis (RPKM 2.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C19orf47 in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (40292954..40348527, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (43113226..43169048, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (40825443..40854434, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene AKT serine/threonine kinase 2 Neighboring gene uncharacterized LOC107985289 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:40757528-40758152 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:40758153-40758776 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:40760793-40761294 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:40761295-40761794 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:40762167-40762909 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:40770063-40770648 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:40770788-40771766 Neighboring gene Sharpr-MPRA regulatory region 4564 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:40774314-40775162 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14642 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14643 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14644 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14645 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14646 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14647 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10619 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:40791573-40792404 Neighboring gene microRNA 641 Neighboring gene RNA, U6 small nuclear 945, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:40829016-40829516 Neighboring gene MPRA-validated peak3483 silencer Neighboring gene Sharpr-MPRA regulatory region 7250 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14648 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14649 Neighboring gene phospholipase D family member 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:40873853-40874018 Neighboring gene Sharpr-MPRA regulatory region 12346 Neighboring gene microRNA 6796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:40895441-40895990 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:40895991-40896540 Neighboring gene homeodomain interacting protein kinase 4

    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. Two-hybrid analysis identifies PSMD11, a non-ATPase subunit of the proteasome, as a novel interaction partner of AMP-activated protein kinase. Moreno D, et al. Int J Biochem Cell Biol, 2009 Dec. PMID 19616115
    2. RECQ1 helicase is involved in replication stress survival and drug resistance in multiple myeloma. Viziteu E, et al. Leukemia, 2017 Oct. PMID 28186131, Free PMC Article
    3. MYC Protein Interactome Profiling Reveals Functionally Distinct Regions that Cooperate to Drive Tumorigenesis. Kalkat M, et al. Mol Cell, 2018 Dec 6. PMID 30415952
    4. Genome-wide CRISPR screens identify novel regulators of wild-type and mutant p53 stability. Lü Y, et al. Mol Syst Biol, 2024 Jun. PMID 38580884, Free PMC Article
    5. CHD3 and CHD4 form distinct NuRD complexes with different yet overlapping functionality. Hoffmeister H, et al. Nucleic Acids Res, 2017 Oct 13. PMID 28977666, Free PMC Article

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Clone Names

    • FLJ36888, DKFZp686P05129

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    uncharacterized protein C19orf47

    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_001256440.1 → NP_001243369.1  uncharacterized protein C19orf47 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001243369.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AI394044, AK094207, AL834131, CR936760
      Consensus CDS
      CCDS58662.1
      UniProtKB/Swiss-Prot
      Q8IZ33, Q8N0V9, Q8N9M1
      Related
      ENSP00000463159.1, ENST00000582783.5
      Conserved Domains (1) summary
      cd09531
      Location:45 → 109
      SAM_CS047; SAM domain of CS047 subfamily

    2. NM_001256441.2 → NP_001243370.1  uncharacterized protein C19orf47 isoform 2

      See identical proteins and their annotated locations for NP_001243370.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC118344, AI394044, AL834131, BI916290, BM459040
      Consensus CDS
      CCDS92619.1
      UniProtKB/TrEMBL
      A0A804HLH2
      Related
      ENSP00000508349.1, ENST00000683109.1
      Conserved Domains (1) summary
      cd09531
      Location:8 → 72
      SAM_CS047; SAM domain of CS047 subfamily

    RNA

    1. NR_046202.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has an alternate 5'-most exon and uses an alternate splice site in the 5' region, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC118344, AI394044, AL834131, BI916290

    2. NR_156465.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 5' region, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC118344

    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
      40292954..40348527 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011526460.3 → XP_011524762.1  uncharacterized protein C19orf47 isoform X9

      Conserved Domains (1) summary
      cd09531
      Location:45 → 109
      SAM_CS047; SAM domain of CS047 subfamily

    2. XM_047438176.1 → XP_047294132.1  uncharacterized protein C19orf47 isoform X7

    3. XM_024451364.2 → XP_024307132.1  uncharacterized protein C19orf47 isoform X6

      Conserved Domains (1) summary
      cd09531
      Location:8 → 72
      SAM_CS047; SAM domain of CS047 subfamily

    4. XM_005258520.3 → XP_005258577.1  uncharacterized protein C19orf47 isoform X2

      Conserved Domains (1) summary
      cd09531
      Location:45 → 109
      SAM_CS047; SAM domain of CS047 subfamily

    5. XM_017026291.2 → XP_016881780.1  uncharacterized protein C19orf47 isoform X1

      Conserved Domains (1) summary
      cd09531
      Location:8 → 72
      SAM_CS047; SAM domain of CS047 subfamily

    6. XM_024451365.2 → XP_024307133.1  uncharacterized protein C19orf47 isoform X8

      UniProtKB/TrEMBL
      A0A804HLH2
      Conserved Domains (1) summary
      cd09531
      Location:8 → 72
      SAM_CS047; SAM domain of CS047 subfamily

    7. XM_047438177.1 → XP_047294133.1  uncharacterized protein C19orf47 isoform X8

      UniProtKB/TrEMBL
      A0A804HLH2

    8. XM_047438178.1 → XP_047294134.1  uncharacterized protein C19orf47 isoform X10

      Related
      ENSP00000375889.2, ENST00000392035.6

    9. XM_047438179.1 → XP_047294135.1  uncharacterized protein C19orf47 isoform X11

    10. XM_047438175.1 → XP_047294131.1  uncharacterized protein C19orf47 isoform X5

    11. XM_017026293.3 → XP_016881782.1  uncharacterized protein C19orf47 isoform X4

    12. XM_017026292.3 → XP_016881781.1  uncharacterized protein C19orf47 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      43113226..43169048 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319832.1 → XP_054175807.1  uncharacterized protein C19orf47 isoform X9

    2. XM_054319829.1 → XP_054175804.1  uncharacterized protein C19orf47 isoform X7

    3. XM_054319828.1 → XP_054175803.1  uncharacterized protein C19orf47 isoform X6

    4. XM_054319824.1 → XP_054175799.1  uncharacterized protein C19orf47 isoform X2

    5. XM_054319823.1 → XP_054175798.1  uncharacterized protein C19orf47 isoform X1

    6. XM_054319830.1 → XP_054175805.1  uncharacterized protein C19orf47 isoform X8

      UniProtKB/TrEMBL
      A0A804HLH2

    7. XM_054319831.1 → XP_054175806.1  uncharacterized protein C19orf47 isoform X8

      UniProtKB/TrEMBL
      A0A804HLH2

    8. XM_054319833.1 → XP_054175808.1  uncharacterized protein C19orf47 isoform X11

    9. XM_054319827.1 → XP_054175802.1  uncharacterized protein C19orf47 isoform X5

    10. XM_054319826.1 → XP_054175801.1  uncharacterized protein C19orf47 isoform X4

    11. XM_054319825.1 → XP_054175800.1  uncharacterized protein C19orf47 isoform X3

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_178830.2: Suppressed sequence

      Description
      NM_178830.2: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N9M1.1 GenPept UniProtKB/Swiss-Prot:Q8N9M1

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