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Aliases for PDZK1IP1 Gene

Aliases for PDZK1IP1 Gene

  • PDZK1 Interacting Protein 1 2 3 5
  • 17 KDa Membrane-Associated Protein 3 4
  • PDZK1-Interacting Protein 1 3 4
  • MAP17 3 4
  • Epithelial Protein Up-Regulated In Carcinoma, Membrane Associated Protein 17 3
  • Membrane-Associated Protein 17 3
  • Protein DD96 4
  • DD96 3
  • SPAP 3

External Ids for PDZK1IP1 Gene

Previous GeneCards Identifiers for PDZK1IP1 Gene

  • GC01M047362
  • GC01M047421
  • GC01M047649
  • GC01M045765

Summaries for PDZK1IP1 Gene

GeneCards Summary for PDZK1IP1 Gene

PDZK1IP1 (PDZK1 Interacting Protein 1) is a Protein Coding gene. Diseases associated with PDZK1IP1 include Tricuspid Valve Disease and Acute Cor Pulmonale. An important paralog of this gene is SMIM24.

UniProtKB/Swiss-Prot for PDZK1IP1 Gene

Gene Wiki entry for PDZK1IP1 Gene

Additional gene information for PDZK1IP1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDZK1IP1 Gene

Genomics for PDZK1IP1 Gene

GeneHancer (GH) Regulatory Elements for PDZK1IP1 Gene

Promoters and enhancers for PDZK1IP1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J047188 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 625.4 -0.2 -191 4.5 ZNF652 SP1 ZFX CC2D1A ELF3 CTCF MNT POLR2A MLLT1 GTF2F1 PDZK1IP1 ENSG00000226252 TAL1 FOXE3 LINC01389 FOXD2 FOXD2-AS1 GC01M047220
GH01J047178 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 19.7 +10.3 10294 4.7 ZFX CC2D1A CTCF ELF3 ZKSCAN8 CBFA2T2 ZNF148 MLLT1 CEBPG GTF2F1 LINC00853 CYP4A22-AS1 EFCAB14-AS1 LRRC41 PDZK1IP1 TAL1 ENSG00000226252 MOB3C CYP4B1 ENSG00000225028
GH01J047211 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 23.8 -21.6 -21630 2.7 CC2D1A CBFA2T2 SMARCA4 MTA1 GMEB1 IKZF1 ZIC2 ATF1 SP1 HDAC1 PDZK1IP1 TAL1 CMPK1 GC01M047220
GH01J047226 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 13.4 -38.2 -38194 8.1 SP1 ZFX CC2D1A ZKSCAN8 CBFA2T2 ZNF148 MLLT1 GTF2F1 CSDE1 CDC5L TAL1 LRRC41 PDZK1IP1 LINC01389 NSUN4 EFCAB14-AS1 FOXE3 ENSG00000226252
GH01J047332 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.5 -143.2 -143245 4.2 CC2D1A ZFX SIX5 ZNF148 NKRF POLR2A MLLT1 ZNF121 ZNF687 AHR CMPK1 ENSG00000226252 FOXE3 TAL1 LINC01389 PDZK1IP1 FOXD2 GC01P047350
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PDZK1IP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PDZK1IP1 gene promoter:
  • E47
  • GATA-1
  • GATA-6
  • Gfi-1
  • Msx-1
  • STAT3
  • Tal-1
  • Tal-1beta
  • YY1

Genomic Locations for PDZK1IP1 Gene

Genomic Locations for PDZK1IP1 Gene
7,463 bases
Minus strand
7,456 bases
Minus strand

Genomic View for PDZK1IP1 Gene

Genes around PDZK1IP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDZK1IP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDZK1IP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDZK1IP1 Gene

Proteins for PDZK1IP1 Gene

  • Protein details for PDZK1IP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    PDZK1-interacting protein 1
    Protein Accession:
    Secondary Accessions:
    • Q6ICT9
    • Q96EI1

    Protein attributes for PDZK1IP1 Gene

    114 amino acids
    Molecular mass:
    12227 Da
    Quaternary structure:
    • Interacts with PDZK1.

neXtProt entry for PDZK1IP1 Gene

Post-translational modifications for PDZK1IP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PDZK1IP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PDZK1IP1 Gene

Domains & Families for PDZK1IP1 Gene

Gene Families for PDZK1IP1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for PDZK1IP1 Gene


Suggested Antigen Peptide Sequences for PDZK1IP1 Gene

GenScript: Design optimal peptide antigens:
  • Protein DD96 (PDZ1I_HUMAN)

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PDZK1IP1: view

No data available for UniProtKB/Swiss-Prot for PDZK1IP1 Gene

Function for PDZK1IP1 Gene

Molecular function for PDZK1IP1 Gene

UniProtKB/Swiss-Prot Function:
May play an important role in tumor biology.

Phenotypes From GWAS Catalog for PDZK1IP1 Gene

genes like me logo Genes that share phenotypes with PDZK1IP1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDZK1IP1

Clone Products

  • Applied Biological Materials (abm): Clones for PDZK1IP1 - Now 50% OFF >
  • * PDZK1IP1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PDZK1IP1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PDZK1IP1 Gene

Localization for PDZK1IP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDZK1IP1 Gene

Membrane; Single-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PDZK1IP1 gene
Compartment Confidence
plasma membrane 3
extracellular 2
cytosol 2
nucleus 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PDZK1IP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with PDZK1IP1: view

Pathways & Interactions for PDZK1IP1 Gene

PathCards logo

SuperPathways for PDZK1IP1 Gene

No Data Available

Interacting Proteins for PDZK1IP1 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see details)
Selected Interacting proteins: Q13113-PDZ1I_HUMAN ENSP00000294338 for PDZK1IP1 Gene via IID STRING

Gene Ontology (GO) - Biological Process for PDZK1IP1 Gene


No data available for Pathways by source and SIGNOR curated interactions for PDZK1IP1 Gene

Drugs & Compounds for PDZK1IP1 Gene

No Compound Related Data Available

Transcripts for PDZK1IP1 Gene

mRNA/cDNA for PDZK1IP1 Gene

Unigene Clusters for PDZK1IP1 Gene

PDZK1 interacting protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDZK1IP1

Clone Products

  • Applied Biological Materials (abm): Clones for PDZK1IP1 - Now 50% OFF >
  • * PDZK1IP1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PDZK1IP1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for PDZK1IP1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c
SP1: - - -
SP2: -
SP3: - -

Relevant External Links for PDZK1IP1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PDZK1IP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PDZK1IP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PDZK1IP1 Gene

This gene is overexpressed in Kidney - Cortex (x28.8) and Minor Salivary Gland (x4.0).

Protein differential expression in normal tissues from HIPED for PDZK1IP1 Gene

This gene is overexpressed in Kidney (35.4), Milk (11.1), Stomach (9.5), and Urine (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PDZK1IP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PDZK1IP1 Gene:


SOURCE GeneReport for Unigene cluster for PDZK1IP1 Gene:


mRNA Expression by UniProt/SwissProt for PDZK1IP1 Gene:

Tissue specificity: Expressed at significant levels only in a single epithelial cell population, the proximal tubular epithelial cells of the kidney. Diffusely expressed in various carcinomas originating from kidney, colon, lung and breast.

Evidence on tissue expression from TISSUES for PDZK1IP1 Gene

  • Kidney(4.6)
  • Lung(2.4)
  • Blood(2.3)
  • Gall bladder(2.1)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with PDZK1IP1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PDZK1IP1 Gene

Orthologs for PDZK1IP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PDZK1IP1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PDZK1IP1 35
  • 100 (a)
(Canis familiaris)
Mammalia PDZK1IP1 35 34
  • 88.6 (n)
(Bos Taurus)
Mammalia PDZK1IP1 35 34
  • 87.46 (n)
(Mus musculus)
Mammalia Pdzk1ip1 17 35 34
  • 82.67 (n)
(Rattus norvegicus)
Mammalia Pdzk1ip1 34
  • 82 (n)
(Monodelphis domestica)
Mammalia PDZK1IP1 35
  • 29 (a)
(Gallus gallus)
Aves PDZK1IP1 35 34
  • 61.72 (n)
(Anolis carolinensis)
Reptilia PDZK1IP1 35
  • 37 (a)
Species where no ortholog for PDZK1IP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for PDZK1IP1 Gene

Gene Tree for PDZK1IP1 (if available)
Gene Tree for PDZK1IP1 (if available)
Evolutionary constrained regions (ECRs) for PDZK1IP1: view image

Paralogs for PDZK1IP1 Gene

Paralogs for PDZK1IP1 Gene

genes like me logo Genes that share paralogs with PDZK1IP1: view

Variants for PDZK1IP1 Gene

Sequence variations from dbSNP and Humsavar for PDZK1IP1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000911876 -- 47,186,726(-) G/A intron_variant
rs1001100494 -- 47,188,730(-) G/A intron_variant
rs1001391046 -- 47,186,374(-) C/T intron_variant
rs1001863367 -- 47,191,996(-) G/A upstream_transcript_variant
rs1001915906 -- 47,191,582(-) C/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PDZK1IP1 Gene

Variant ID Type Subtype PubMed ID
esv1709924 CNV insertion 17803354
esv3422993 CNV duplication 20981092
nsv950709 CNV deletion 24416366

Variation tolerance for PDZK1IP1 Gene

Residual Variation Intolerance Score: 80.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.80; 33.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PDZK1IP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDZK1IP1 Gene

Disorders for PDZK1IP1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for PDZK1IP1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
tricuspid valve disease
  • disease of tricuspid valve
acute cor pulmonale
acute pulmonary heart disease
heart valve disease
  • valvular heart disease
mitral valve insufficiency
  • congenital insufficiency of mitral valve
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PDZK1IP1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PDZK1IP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PDZK1IP1 Gene

Publications for PDZK1IP1 Gene

  1. Identification and partial characterization of a novel membrane-associated protein (MAP17) up-regulated in human carcinomas and modulating cell replication and tumor growth. (PMID: 8701988) Kocher O … Lee SW (The American journal of pathology 1996) 2 3 4 23 58
  2. Identification of a novel gene, selectively up-regulated in human carcinomas, using the differential display technique. (PMID: 9815914) Kocher O … Lee SW (Clinical cancer research : an official journal of the American Association for Cancer Research 1995) 2 3 4 58
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 58
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for PDZK1IP1 Gene

Sources for PDZK1IP1 Gene

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