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

Gene ID: 100034743, updated on 23-Nov-2023

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
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. Predicted to be involved in protein localization to plasma membrane. Predicted to be active in apical plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
1q21.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (147993862..148014956, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (146792466..146813561)
105.20220307 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)

Genotypes

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

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_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.