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    BRCA1P1 BRCA1 pseudogene 1 [ Homo sapiens (human) ]

    Gene ID: 394269, updated on 10-Oct-2023

    Summary

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    Official Symbol
    BRCA1P1provided by HGNC
    Official Full Name
    BRCA1 pseudogene 1provided by HGNC
    Primary source
    HGNC:HGNC:28470
    See related
    AllianceGenome:HGNC:28470
    Gene type
    pseudo
    RefSeq status
    INFERRED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LBRCA1; PsiBRCA1; pseudo-BRCA1
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    Genomic context

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    See BRCA1P1 in Genome Data Viewer
    Location:
    17q21.31
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (43168070..43169954, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (44026827..44028711, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (41320087..41321971, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene BRCA1 DNA repair associated Neighboring gene ribosomal protein L21 pseudogene 4 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 Neighboring gene BRCA1 intronic recombination region Neighboring gene BRCA1 intron 2 regulatory region Neighboring gene BRCA1 promoter region Neighboring gene neighbor of BRCA1 lncRNA 2 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr17:41298599-41299208 Neighboring gene uncharacterized LOC101929767 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 29 Neighboring gene BRCA1P1 intergenic recombination region Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:41311429-41311959 Neighboring gene uncharacterized LOC124900391 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12237 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12238 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12239 Neighboring gene NBR1 autophagy cargo receptor Neighboring gene Sharpr-MPRA regulatory region 10579 Neighboring gene transmembrane protein 106A

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. The BRCA1 Pseudogene Negatively Regulates Antitumor Responses through Inhibition of Innate Immune Defense Mechanisms. Han YJ, et al. Cancer Res, 2021 Mar 15. PMID 33472891, Free PMC Article
    2. Evidence for effective suppression of recombination in the chromosome 17q21 segment spanning RNU2-BRCA1. Liu X, et al. Am J Hum Genet, 1999 May. PMID 10205276, Free PMC Article
    3. The BRCA1 and 1A1.3B promoters are parallel elements of a genomic duplication at 17q21. Barker DF, et al. Genomics, 1996 Dec 1. PMID 8954804
    4. Identification and functional analysis of novel BRCA1 transcripts, including mouse Brca1-Iris and human pseudo-BRCA1. Pettigrew CA, et al. Breast Cancer Res Treat, 2010 Jan. PMID 19067158
    5. The 5' end of the BRCA1 gene lies within a duplicated region of human chromosome 17q21. Brown MA, et al. Oncogene, 1996 Jun 20. PMID 8700509

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The BRCA1 Pseudogene Negatively Regulates Antitumor Responses through Inhibition of Innate Immune Defense Mechanisms.
      Title: The BRCA1 Pseudogene Negatively Regulates Antitumor Responses through Inhibition of Innate Immune Defense Mechanisms.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Other Names

    • like BRCA1

    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.

    Genomic

    1. NG_003183.3 

      Range
      101..1985
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      43168070..43169954 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      44026827..44028711 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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