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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
  • 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 Acute Cor Pulmonale.

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 , CIViC 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
GH01G047211 1.8 FANTOM5 Ensembl ENCODE dbSUPER 23.8 -21.6 -21630 2.7 HDGF ATF1 TCF12 ZNF766 GATA2 FOS KDM4B ZNF263 ZNF592 MBD2 PDZK1IP1 TAL1 CMPK1 GC01M047220
GH01G047188 1.5 Ensembl ENCODE dbSUPER 25.5 -0.2 -191 4.5 HDGF PKNOX1 ATF1 MLX ARID4B DMAP1 ZNF2 ZNF48 TCF12 GATA2 PDZK1IP1 ENSG00000226252 TAL1 FOXE3 LINC01389 FOXD2 FOXD2-AS1 GC01M047220
GH01G047178 1.4 ENCODE dbSUPER 19.7 +10.2 10182 4.5 HDGF PKNOX1 CREB3L1 ARNT ARID4B SIN3A YBX1 DMAP1 ZNF766 CBX5 EFCAB14-AS1 PDZK1IP1 TAL1 ENSG00000226252 CYP4B1 LINC00853 CYP4A22 CYP4A22-AS1
GH01G047224 1.9 FANTOM5 Ensembl ENCODE dbSUPER 13.2 -37.8 -37848 8.8 HDGF PKNOX1 CREB3L1 ARNT SIN3A FEZF1 ZNF2 YY1 ZNF766 CBX5 TAL1 PDZK1IP1 FOXE3 ENSG00000226252
GH01G047241 1.2 ENCODE dbSUPER 9.6 -50.7 -50653 1.1 HDGF PKNOX1 NFRKB ZNF133 CHAMP1 TCF12 ZNF121 GATA2 ELK1 ZBTB11 PDZK1IP1 TAL1 GC01M047285
- 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

Chromosome:
1
Start:
47,183,589 bp from pter
End:
47,191,044 bp from pter
Size:
7,456 bases
Orientation:
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:
    Q13113-PDZ1I_HUMAN
    Recommended name:
    PDZK1-interacting protein 1
    Protein Accession:
    Q13113
    Secondary Accessions:
    • Q6ICT9
    • Q96EI1

    Protein attributes for PDZK1IP1 Gene

    Size:
    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

CRISPR Products

Inhibitory RNA Products

Clone 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

COMPARTMENTS
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)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000294338%0d%0a9606.ENSP00000342143%0d%0a
Selected Interacting proteins: ENSP00000294338 Q13113-PDZ1I_HUMAN for PDZK1IP1 Gene via STRING IID

Gene Ontology (GO) - Biological Process for PDZK1IP1 Gene

None

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

Clone 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: - -
SP4:

Relevant External Links for PDZK1IP1 Gene

GeneLoc Exon Structure for
PDZK1IP1
ECgene alternative splicing isoforms for
PDZK1IP1

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, PaxDb, and MOPED for PDZK1IP1 Gene



NURSA nuclear receptor signaling pathways regulating expression of PDZK1IP1 Gene:

PDZK1IP1

SOURCE GeneReport for Unigene cluster for PDZK1IP1 Gene:

Hs.431099

mRNA Expression by UniProt/SwissProt for PDZK1IP1 Gene:

Q13113-PDZ1I_HUMAN
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(2.2)
  • Gall bladder(2.1)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with PDZK1IP1: view

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia PDZK1IP1 35
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PDZK1IP1 34 35
  • 88.6 (n)
cow
(Bos Taurus)
Mammalia PDZK1IP1 34 35
  • 87.46 (n)
mouse
(Mus musculus)
Mammalia Pdzk1ip1 34 16 35
  • 82.67 (n)
rat
(Rattus norvegicus)
Mammalia Pdzk1ip1 34
  • 82 (n)
oppossum
(Monodelphis domestica)
Mammalia PDZK1IP1 35
  • 29 (a)
OneToOne
chicken
(Gallus gallus)
Aves PDZK1IP1 34 35
  • 61.72 (n)
lizard
(Anolis carolinensis)
Reptilia PDZK1IP1 35
  • 37 (a)
OneToOne
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

ENSEMBL:
Gene Tree for PDZK1IP1 (if available)
TreeFam:
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
rs1000911876 -- 47,186,726(+) CCCAC(A/G)CCACT intron-variant
rs1001100494 -- 47,188,730(+) GTAGT(A/G)AGGTC intron-variant
rs1001391046 -- 47,186,374(+) CAAAG(C/T)TCAGG intron-variant
rs1001863367 -- 47,191,996(+) TTCAG(A/G)TGACT upstream-variant-2KB
rs1001915906 -- 47,191,582(+) CCCTC(C/T)CACAC upstream-variant-2KB

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)

Relevant External Links for PDZK1IP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDZK1IP1

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

Disorders for PDZK1IP1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for PDZK1IP1 Gene - From: DISEASES and GeneCards

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

Relevant External Links for PDZK1IP1

Genetic Association Database (GAD)
PDZK1IP1
Human Genome Epidemiology (HuGE) Navigator
PDZK1IP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PDZK1IP1
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

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