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    PKD1P1 polycystin 1, transient receptor potential channel interacting pseudogene 1 [ Homo sapiens (human) ]

    Gene ID: 339044, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PKD1P1provided by HGNC
    Official Full Name
    polycystin 1, transient receptor potential channel interacting pseudogene 1provided by HGNC
    Primary source
    HGNC:HGNC:30065
    See related
    Ensembl:ENSG00000244257 AllianceGenome:HGNC:30065
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HG1; NPIP
    Expression
    Ubiquitous expression in ovary (RPKM 40.0), testis (RPKM 38.3) and 25 other tissues See more
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    Genomic context

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    See PKD1P1 in Genome Data Viewer
    Location:
    16p13.11
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (16310134..16332477)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (16315687..16340881)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (16403991..16426334)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371099 Neighboring gene PKD1P1-NPIPA5L readthrough Neighboring gene microRNA 3670-2 Neighboring gene microRNA 3180-2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:16410465-16411346 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:16411347-16412229 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:16417107-16417962 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:16418032-16418834 Neighboring gene microRNA 6511a-2 Neighboring gene microRNA 6770-2 Neighboring gene nuclear pore complex interacting protein family, member A6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:16455057-16455754 Neighboring gene polycystin 1, transient receptor potential channel interacting pseudogene 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:16462718-16463630 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:16464602-16465502 Neighboring gene microRNA 6511a-3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:16468943-16469444 Neighboring gene nuclear pore complex interacting protein family member A7

    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. Homologues to the first gene for autosomal dominant polycystic kidney disease are pseudogenes. Bogdanova N, et al. Genomics, 2001 Jun 15. PMID 11414761
    2. The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium. . Cell, 1994 Jun 17. PMID 8004675
    3. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. Loftus BJ, et al. Genomics, 1999 Sep 15. PMID 10493829
    4. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. Zhang QH, et al. Genome Res, 2000 Oct. PMID 11042152, Free PMC Article
    5. Next-generation sequencing to generate interactome datasets. Yu H, et al. Nat Methods, 2011 Jun. PMID 21516116, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Other Names

    • KIAA0220-like protein
    • NPIP-like protein 1
    • nuclear pore complex-interacting protein
    • polycystic kidney disease 1 (autosomal dominant) pseudogene 1

    Clone Names

    • FLJ00322, FLJ42525, FLJ44848, FLJ56775, FLJ56871, FLJ59085, KIAA0220, MGC47688

    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.

    RNA

    1. NR_187118.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC138969
      Related
      ENST00000458669.1

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      16310134..16332477
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187607.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      1968105..1991658
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      16315687..16340881
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_002797.3: Suppressed sequence

      Description
      NG_002797.3: This RefSeq was permanently suppressed because it is now thought that this gene is a transcribed pseudogene.
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

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

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