Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PDZK1IP1 Gene

Aliases for PDZK1IP1 Gene

  • PDZK1 Interacting Protein 1 2 3 5
  • 17 KDa Membrane-Associated Protein 3 4
  • MAP17 3 4
  • Epithelial Protein Up-Regulated In Carcinoma, Membrane Associated Protein 17 3
  • Membrane-Associated Protein 17 3
  • PDZK1-Interacting Protein 1 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 Insufficiency and Tricuspid Valve Disease.

UniProtKB/Swiss-Prot for PDZK1IP1 Gene

  • May play an important role in tumor biology.

Gene Wiki entry for PDZK1IP1 Gene

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

Genomics for PDZK1IP1 Gene

Regulatory Elements for PDZK1IP1 Gene

Enhancers for PDZK1IP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F047211 1.5 FANTOM5 Ensembl ENCODE 23.8 -21.6 -21630 2.7 HDGF NFXL1 ZBTB40 GATA2 SCRT2 CREM SMARCA5 ZNF263 ZBTB2 ZEB2 PDZK1IP1 TAL1 CMPK1 GC01M047220
GH01F047188 1.3 Ensembl ENCODE 25.5 -0.2 -191 4.5 HDGF PKNOX1 MLX ARID4B DMAP1 ZNF48 ZNF2 ZNF143 ZNF263 SP5 PDZK1IP1 ENSG00000226252 TAL1 FOXE3 LINC01389 FOXD2 FOXD2-AS1 GC01M047220
GH01F047178 1.2 ENCODE 19.7 +10.2 10182 4.5 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 YBX1 ZNF143 FOS EFCAB14-AS1 PDZK1IP1 TAL1 ENSG00000226252 CYP4B1 LINC00853 CYP4A22 CYP4A22-AS1
GH01F047226 1.1 ENCODE 13.4 -38.6 -38639 7.2 HDGF ARNT CREB3L1 SIN3A YY1 FOS KLF13 JUNB REST SMARCB1 SKINT1L EFCAB14-AS1 PDZK1IP1 TAL1 ENSG00000226252
GH01F047332 1.4 FANTOM5 ENCODE 6.5 -143.2 -143245 4.2 HDGF ARNT CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF143 SP3 SP5 ENSG00000226252 FOXE3 EFCAB14-AS1 CMPK1 SKINT1L TRABD2B TAL1 LOC105378702 ENSG00000272491 LINC01389
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PDZK1IP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PDZK1IP1 Gene

47,183,589 bp from pter
47,191,044 bp from pter
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

Protein Domains for PDZK1IP1 Gene

Suggested Antigen Peptide Sequences for PDZK1IP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for Gene Families and 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.
genes like me logo Genes that share phenotypes with PDZK1IP1: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

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
extracellular 5
plasma membrane 3
nucleus 2
cytosol 2
golgi apparatus 1

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 IDA 19056867
genes like me logo Genes that share ontologies with PDZK1IP1: view

Pathways & Interactions for PDZK1IP1 Gene

SuperPathways for PDZK1IP1 Gene

No Data Available

Interacting Proteins for PDZK1IP1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: ENSP00000294338 Q13113-PDZ1I_HUMAN for PDZK1IP1 Gene via STRING IID

Gene Ontology (GO) - Biological Process for PDZK1IP1 Gene


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

Transcripts for PDZK1IP1 Gene

mRNA/cDNA for PDZK1IP1 Gene

Unigene Clusters for PDZK1IP1 Gene

PDZK1 interacting protein 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 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.
genes like me logo Genes that share expression patterns with PDZK1IP1: view

Primer Products

No data available for Protein tissue co-expression partners 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 34 35
  • 88.6 (n)
(Bos Taurus)
Mammalia PDZK1IP1 34 35
  • 87.46 (n)
(Mus musculus)
Mammalia Pdzk1ip1 34 16 35
  • 82.67 (n)
(Rattus norvegicus)
Mammalia Pdzk1ip1 34
  • 82 (n)
(Monodelphis domestica)
Mammalia PDZK1IP1 35
  • 29 (a)
(Gallus gallus)
Aves PDZK1IP1 34 35
  • 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)

Paralogs for PDZK1IP1 Gene

No data available for Paralogs for PDZK1IP1 Gene

Variants for PDZK1IP1 Gene

Sequence variations from dbSNP and Humsavar for PDZK1IP1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs10549554 -- 47,187,199(+) CTTCC(-/CTTG)AGCCT intron-variant
rs10549555 -- 47,187,204(+) CTTGA(-/GC)CTCAG intron-variant
rs1060216 -- 47,183,711(-) TGAGC(A/C)CCTCC utr-variant-3-prime
rs1060221 -- 47,183,630(-) TATTT(C/T)TGGGG utr-variant-3-prime
rs111415042 -- 47,184,639(+) CCCCA(C/G)TGAAC intron-variant

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

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

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)

Relevant External Links 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 insufficiency
  • tricuspid incompetence
tricuspid valve disease
  • disease of tricuspid valve
acute cor pulmonale
acute pulmonary heart disease
  • acute pulmonary heart disease nos
mitral valve insufficiency
  • congenital insufficiency of mitral valve
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PDZK1IP1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) 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 S.W. (Am. J. Pathol. 1996) 2 3 4 22 64
  2. Identification of a novel gene, selectively up-regulated in human carcinomas, using the differential display technique. (PMID: 9815914) Kocher O. … Lee S.W. (Clin. Cancer Res. 1995) 2 3 4 64
  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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for PDZK1IP1 Gene

Sources for PDZK1IP1 Gene

Loading form....