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

Gene ID: 339044, updated on 26-Oct-2023

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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Location:
16p13.11
Exon count:
28
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (16310134..16332477)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (16315687..16340881)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (16403991..16444465)

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)

Genotypes

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_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
    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

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