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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 Disease and Acute Cor Pulmonale.

UniProtKB/Swiss-Prot for PDZK1IP1 Gene

  • May play an important role in tumor biology.

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
Score
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 1.9 EPDnew Ensembl ENCODE dbSUPER 675.5 -0.2 -191 4.5 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 PDZK1IP1 LRRC41 ENSG00000226252 TAL1 FOXE3 LINC01389 FOXD2-AS1 FOXD2 GC01M047220
GH01J047211 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 23.8 -21.6 -21630 2.7 HDAC1 HDGF ATF1 NFXL1 ZBTB40 TCF12 ZNF766 GATA2 SCRT2 ATF7 PDZK1IP1 LRRC41 TAL1 CMPK1 GC01M047220
GH01J047178 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 19.7 +10.2 10182 4.5 YBX1 DMAP1 YY1 E2F8 ZNF143 SP3 NFYC MEF2D SSRP1 NBN LINC00853 CYP4A22-AS1 EFCAB14-AS1 LRRC41 PDZK1IP1 MOB3C TAL1 ENSG00000226252 CYP4B1 ENSG00000225028
GH01J047224 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 13.2 -37.8 -37847 8.8 HDGF PKNOX1 SMAD1 ARNT YY1 POLR2B ZNF766 CBX5 E2F8 ZNF143 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 HDGF SMAD1 FOXA2 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B ZNF766 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:
  • GATA-1
  • GATA-6
  • YY1
  • Gfi-1
  • E47
  • Msx-1
  • Tal-1
  • STAT3
  • Tal-1beta

Genomic Locations for PDZK1IP1 Gene

Genomic Locations for PDZK1IP1 Gene
chr1:47,183,589-47,191,044
(GRCh38/hg38)
Size:
7,456 bases
Orientation:
Minus strand
chr1:47,649,261-47,656,716
(GRCh37/hg19)
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

Gene Families for PDZK1IP1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for PDZK1IP1 Gene

InterPro:
ProtoNet:

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 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

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

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

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: Q13113-PDZ1I_HUMAN ENSP00000294338 for PDZK1IP1 Gene via IID STRING

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

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(80) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

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

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 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(2.3)
  • 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
chimpanzee
(Pan troglodytes)
Mammalia PDZK1IP1 34
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PDZK1IP1 34 33
  • 88.6 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PDZK1IP1 34 33
  • 87.46 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pdzk1ip1 16 34 33
  • 82.67 (n)
rat
(Rattus norvegicus)
Mammalia Pdzk1ip1 33
  • 82 (n)
oppossum
(Monodelphis domestica)
Mammalia PDZK1IP1 34
  • 29 (a)
OneToOne
chicken
(Gallus gallus)
Aves PDZK1IP1 34 33
  • 61.72 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDZK1IP1 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PDZK1IP1: view image

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 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
PDZK1IP1

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

Disorders for PDZK1IP1 Gene

MalaCards: The human disease database

(3) 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
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PDZK1IP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 22 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 44 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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