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    PDZK1IP1 PDZK1 interacting protein 1 [ Homo sapiens (human) ]

    Gene ID: 10158, updated on 2-Nov-2024

    Summary

    Official Symbol
    PDZK1IP1provided by HGNC
    Official Full Name
    PDZK1 interacting protein 1provided by HGNC
    Primary source
    HGNC:HGNC:16887
    See related
    Ensembl:ENSG00000162366 MIM:607178; AllianceGenome:HGNC:16887
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DD96; SPAP; MAP17
    Summary
    Located in extracellular exosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in kidney (RPKM 568.2), gall bladder (RPKM 87.6) and 3 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PDZK1IP1 in Genome Data Viewer
    Location:
    1p33
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (47183582..47190036, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (47061100..47068446, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (47649254..47655708, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene CYP4A22 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 13342 Neighboring gene MT-ND1 pseudogene 34 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47644793-47645294 Neighboring gene GATA motif-containing MPRA enhancer 229 Neighboring gene long intergenic non-protein coding RNA 853 Neighboring gene Sharpr-MPRA regulatory region 12212 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47657113-47658062 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:47673792-47674378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47694003-47694964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47694965-47695926 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:47696119-47697092 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47697093-47698066 Neighboring gene TAL bHLH transcription factor 1, erythroid differentiation factor Neighboring gene STIL centriolar assembly protein Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:47772177-47772742 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:47779829-47780558

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    Preferred Names
    PDZK1-interacting protein 1
    Names
    17 kDa membrane-associated protein
    epithelial protein up-regulated in carcinoma, membrane associated protein 17
    membrane-associated protein 17

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_005764.4NP_005755.1  PDZK1-interacting protein 1 precursor

      See identical proteins and their annotated locations for NP_005755.1

      Status: VALIDATED

      Source sequence(s)
      AL135960, BI763294, BM924665
      Consensus CDS
      CCDS546.1
      UniProtKB/Swiss-Prot
      Q13113, Q6ICT9, Q96EI1
      Related
      ENSP00000294338.2, ENST00000294338.7
      Conserved Domains (1) summary
      pfam15807
      Location:16114
      MAP17; Membrane-associated protein 117 kDa, PDZK1-interacting protein 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
      47183582..47190036 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      47061100..47068446 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)