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    PDZK1P1 PDZ domain containing 1 pseudogene 1 [ Homo sapiens (human) ]

    Gene ID: 100034743, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PDZK1P1provided by HGNC
    Official Full Name
    PDZ domain containing 1 pseudogene 1provided by HGNC
    Primary source
    HGNC:HGNC:31974
    See related
    Ensembl:ENSG00000290705 AllianceGenome:HGNC:31974
    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
    PDZK1P2
    Summary
    Predicted to enable protein-membrane adaptor activity and signaling receptor binding activity. Predicted to be involved in protein localization to plasma membrane. Predicted to be active in apical plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in kidney (RPKM 151.5), small intestine (RPKM 34.8) and 2 other tissues See more
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    Genomic context

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    See PDZK1P1 in Genome Data Viewer
    Location:
    1q21.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (147993862..148014956, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (146792466..146813561)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (147466094..147487188, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371229 Neighboring gene gap junction protein alpha 8 Neighboring gene G protein-coupled receptor 89B Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:147420827-147421344 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:145943675-145944386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:145944387-145945098 Neighboring gene tRNA-Arg (anticodon CCT) 6-2 Neighboring gene RNA, U1 small nuclear 129, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:145963909-145964683 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:147510508-147511043 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:147511044-147511580 Neighboring gene tRNA-Gln (anticodon CTG) 3-2 Neighboring gene RNA, variant U1 small nuclear 7

    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. TRABID targets DDB2 for deubiquitination to promote proliferation of hepatocellular carcinoma cells. Chen Y, et al. Biochem Biophys Res Commun, 2022 Oct 15. PMID 35944360
    2. 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
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    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

    • PDZ domain containing 1 pseudogene 2

    Clone Names

    • FLJ44765

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein-membrane adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables signaling receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein localization to plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in apical plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    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_111936.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AK126719, DA085292
      Related
      ENST00000740711.1

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      147993862..148014956 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      146792466..146813561
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_005958.6: Suppressed sequence

      Description
      NG_005958.6: This RefSeq was permanently suppressed because it is now thought that this gene is transcribed.

    2. NR_003377.2: Suppressed sequence

      Description
      NR_003377.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A8MUH7.2 GenPept UniProtKB/Swiss-Prot:A8MUH7

    Gene LinkOut

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