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PKD1P6-NPIPP1 PKD1P6-NPIPP1 readthrough [ Homo sapiens (human) ]

Gene ID: 105369154, updated on 18-Feb-2024

Summary

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Gene symbol
PKD1P6-NPIPP1
Gene description
PKD1P6-NPIPP1 readthrough
See related
Ensembl:ENSG00000270580
Gene type
pseudo
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This locus represents naturally-occurring readthrough transcription between two unprocessed pseudogenes, PKD1P6 (polycystic kidney disease 1 (autosomal dominant) pseudogene 6) and NPIPP1 (nuclear pore complex interacting protein pseudogene 1). The individual pseudogene loci are not curated as transcribed regions. Readthrough transcripts likely do not encode functional proteins. [provided by RefSeq, Jan 2016]
Expression
Ubiquitous expression in skin (RPKM 36.1), ovary (RPKM 33.7) and 25 other tissues See more
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Genomic context

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Location:
16p13.11
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (15104723..15131601, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (15105353..15141806, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (15198580..15225458, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene pyridoxal dependent decarboxylase domain containing 1 Neighboring gene N-terminal asparagine amidase Neighboring gene ReSE screen-validated silencer GRCh37_chr16:15149302-15149486 Neighboring gene MPRA-validated peak2507 silencer Neighboring gene RRN3 homolog, RNA polymerase I transcription factor Neighboring gene Sharpr-MPRA regulatory region 13846 Neighboring gene uncharacterized LOC100505915 Neighboring gene nuclear pore complex interacting protein pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:15231552-15232159 Neighboring gene polycystin 1, transient receptor potential channel interacting pseudogene 6 Neighboring gene microRNA 6511b-2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:15240089-15241062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:15243079-15243774 Neighboring gene microRNA 3180-4

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. 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. Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence. Adams MD, et al. Nature, 1995 Sep 28. PMID 7566098
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

See all (6) 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)

Genotypes

General gene information

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Other Names

  • polycystin-1-like

Clone Names

  • FLJ00285, FLJ00286, FLJ13314, FLJ56864, FLJ56874

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_123721.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. It is likely transcribed from the ALT_REF_LOCI_1 haplotype and not the primary reference haplotype.
    Source sequence(s)
    AA308851, AK131084, DA094542, DA095374, HY148638

  2. NR_123722.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) is shorter at the 5' and 3' ends and uses an alternate internal splice site, relative to variant 1.
    Source sequence(s)
    AK302708
    Related
    ENST00000605794.5

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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    15104723..15131601 complement
    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
    525549..565370
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    15105353..15141806 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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