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

Gene ID: 10158, updated on 24-Nov-2020

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
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
Expression
Biased expression in kidney (RPKM 568.2), gall bladder (RPKM 87.6) and 3 other tissues See more
Orthologs

Genomic context

See PDZK1IP1 in Genome Data Viewer
Location:
1p33
Exon count:
4
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (47183582..47190036, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (47649261..47655771, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene GATA motif-containing MPRA enhancer 229 Neighboring gene long intergenic non-protein coding RNA 853 Neighboring gene TAL bHLH transcription factor 1, erythroid differentiation factor Neighboring gene STIL centriolar assembly protein

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

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)

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
    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: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    47183582..47190036 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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