Aliases for PAK1IP1 Gene

Aliases for PAK1IP1 Gene

  • PAK1 Interacting Protein 1 2 3 5
  • WDR84 2 3 4
  • HPIP1 2 3 4
  • PIP1 2 3 4
  • P21-Activated Protein Kinase-Interacting Protein 1 3 4
  • WD Repeat-Containing Protein 84 3 4
  • PAK/PLC-Interacting Protein 1 3 4
  • BA421M1.5 2 3
  • MAK11 2 3
  • PAK1-Interacting Protein 1 4
  • FLJ20624 2
  • PAK1IP1 5

External Ids for PAK1IP1 Gene

Previous GeneCards Identifiers for PAK1IP1 Gene

  • GC06P010757
  • GC06P010803
  • GC06P010694
  • GC06P010570
  • GC06P010695

Summaries for PAK1IP1 Gene

GeneCards Summary for PAK1IP1 Gene

PAK1IP1 (PAK1 Interacting Protein 1) is a Protein Coding gene. Diseases associated with PAK1IP1 include Robinow Syndrome, Autosomal Dominant 1 and Robinow Syndrome. Among its related pathways are PAK Pathway. An important paralog of this gene is WDR5.

UniProtKB/Swiss-Prot Summary for PAK1IP1 Gene

  • Negatively regulates the PAK1 kinase. PAK1 is a member of the PAK kinase family, which has been shown to play a positive role in the regulation of signaling pathways involving MAPK8 and RELA. PAK1 exists as an inactive homodimer, which is activated by binding of small GTPases such as CDC42 to an N-terminal regulatory domain. PAK1IP1 also binds to the N-terminus of PAK1, and inhibits the specific activation of PAK1 by CDC42. May be involved in ribosomal large subunit assembly (PubMed:24120868).

Gene Wiki entry for PAK1IP1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PAK1IP1 Gene

Genomics for PAK1IP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PAK1IP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PAK1IP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PAK1IP1

Top Transcription factor binding sites by QIAGEN in the PAK1IP1 gene promoter:
  • c-Myb
  • CREB
  • deltaCREB
  • GATA-1
  • Gfi-1
  • HSF1 (long)
  • HSF1short
  • p300
  • STAT1

Genomic Locations for PAK1IP1 Gene

Latest Assembly
chr6:10,690,865-10,709,782
(GRCh38/hg38)
Size:
18,918 bases
Orientation:
Plus strand

Previous Assembly
chr6:10,695,205-10,710,015
(GRCh37/hg19 by Entrez Gene)
Size:
14,811 bases
Orientation:
Plus strand

chr6:10,694,928-10,710,015
(GRCh37/hg19 by Ensembl)
Size:
15,088 bases
Orientation:
Plus strand

Alternative Locations (GRCh38/hg38)

  • chr6(PATCHES):205,856-220,666 (+)

Genomic View for PAK1IP1 Gene

Genes around PAK1IP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PAK1IP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PAK1IP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PAK1IP1 Gene

Proteins for PAK1IP1 Gene

  • Protein details for PAK1IP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NWT1-PK1IP_HUMAN
    Recommended name:
    p21-activated protein kinase-interacting protein 1
    Protein Accession:
    Q9NWT1
    Secondary Accessions:
    • Q5T4J2
    • Q96QJ8
    • Q96T87

    Protein attributes for PAK1IP1 Gene

    Size:
    392 amino acids
    Molecular mass:
    43964 Da
    Quaternary structure:
    • Interacts with PAK1.

neXtProt entry for PAK1IP1 Gene

Post-translational modifications for PAK1IP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PAK1IP1 Gene

No data available for DME Specific Peptides for PAK1IP1 Gene

Domains & Families for PAK1IP1 Gene

Gene Families for PAK1IP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PAK1IP1 Gene

GenScript: Design optimal peptide antigens:
  • WD repeat-containing protein 84 (PK1IP_HUMAN)
genes like me logo Genes that share domains with PAK1IP1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PAK1IP1 Gene

Function for PAK1IP1 Gene

Molecular function for PAK1IP1 Gene

UniProtKB/Swiss-Prot Function:
Negatively regulates the PAK1 kinase. PAK1 is a member of the PAK kinase family, which has been shown to play a positive role in the regulation of signaling pathways involving MAPK8 and RELA. PAK1 exists as an inactive homodimer, which is activated by binding of small GTPases such as CDC42 to an N-terminal regulatory domain. PAK1IP1 also binds to the N-terminus of PAK1, and inhibits the specific activation of PAK1 by CDC42. May be involved in ribosomal large subunit assembly (PubMed:24120868).

Phenotypes From GWAS Catalog for PAK1IP1 Gene

Gene Ontology (GO) - Molecular Function for PAK1IP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25074804
genes like me logo Genes that share ontologies with PAK1IP1: view
genes like me logo Genes that share phenotypes with PAK1IP1: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PAK1IP1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PAK1IP1 Gene

Localization for PAK1IP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PAK1IP1 Gene

Nucleus, nucleolus.

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 PAK1IP1 gene
Compartment Confidence
nucleus 5
plasma membrane 2
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PAK1IP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005730 nucleolus IEA,IDA --
genes like me logo Genes that share ontologies with PAK1IP1: view

Pathways & Interactions for PAK1IP1 Gene

PathCards logo

SuperPathways for PAK1IP1 Gene

SuperPathway Contained pathways
1 PAK Pathway
.56
genes like me logo Genes that share pathways with PAK1IP1: view

Pathways by source for PAK1IP1 Gene

1 Qiagen pathway for PAK1IP1 Gene
  • PAK Pathway

Gene Ontology (GO) - Biological Process for PAK1IP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008283 cell proliferation IEA --
GO:0009968 negative regulation of signal transduction IEA --
GO:0042254 ribosome biogenesis IEA --
GO:0042273 ribosomal large subunit biogenesis IMP 24120868
GO:0060021 roof of mouth development IEA --
genes like me logo Genes that share ontologies with PAK1IP1: view

No data available for SIGNOR curated interactions for PAK1IP1 Gene

Drugs & Compounds for PAK1IP1 Gene

(1) Drugs for PAK1IP1 Gene - From: ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
IPA-3 Pharma Non-ATP competitive Pak1 inhibitor 0

(1) ApexBio Compounds for PAK1IP1 Gene

Compound Action Cas Number
IPA-3 Non-ATP competitive Pak1 inhibitor 42521-82-4
genes like me logo Genes that share compounds with PAK1IP1: view

Drug products for research

Transcripts for PAK1IP1 Gene

mRNA/cDNA for PAK1IP1 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PAK1IP1

Alternative Splicing Database (ASD) splice patterns (SP) for PAK1IP1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b
SP1:
SP2:
SP3: - - - - -

Relevant External Links for PAK1IP1 Gene

GeneLoc Exon Structure for
PAK1IP1

Expression for PAK1IP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PAK1IP1 Gene

Protein differential expression in normal tissues from HIPED for PAK1IP1 Gene

This gene is overexpressed in Lung (43.5) and Peripheral blood mononuclear cells (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PAK1IP1 Gene



Protein tissue co-expression partners for PAK1IP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PAK1IP1

SOURCE GeneReport for Unigene cluster for PAK1IP1 Gene:

Hs.310231

mRNA Expression by UniProt/SwissProt for PAK1IP1 Gene:

Q9NWT1-PK1IP_HUMAN
Tissue specificity: Expressed in brain, colon, heart, kidney, liver, lung, muscle, peripheral blood leukocytes, placenta, small intestine, spleen and thymus.
genes like me logo Genes that share expression patterns with PAK1IP1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PAK1IP1 Gene

Orthologs for PAK1IP1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PAK1IP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PAK1IP1 29 30
  • 99.57 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PAK1IP1 29 30
  • 89.04 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PAK1IP1 29 30
  • 84.61 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pak1ip1 29
  • 82.13 (n)
Mouse
(Mus musculus)
Mammalia Pak1ip1 29 16 30
  • 79.91 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PAK1IP1 30
  • 73 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PAK1IP1 30
  • 66 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PAK1IP1 29 30
  • 71.07 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PAK1IP1 30
  • 64 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pak1ip1 29
  • 67.24 (n)
Str.10108 29
Zebrafish
(Danio rerio)
Actinopterygii pak1ip1 29 30
  • 61.85 (n)
OneToOne
zgc56683 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1534 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG12608 29 30
  • 45.52 (n)
OneToMany
CG9123 30
  • 22 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001149 29
  • 45.13 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MAK11 29 30 32
  • 43.56 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E07965g 29
  • 43.14 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ACR166W 29
  • 41.86 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G65030 29
  • 47.3 (n)
Rice
(Oryza sativa)
Liliopsida Os12g0615900 29
  • 40.77 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU07864 29
  • 43.74 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10517 30
  • 32 (a)
OneToOne
Species where no ortholog for PAK1IP1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • 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)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for PAK1IP1 Gene

ENSEMBL:
Gene Tree for PAK1IP1 (if available)
TreeFam:
Gene Tree for PAK1IP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PAK1IP1: view image
Alliance of Genome Resources:
Additional Orthologs for PAK1IP1

Paralogs for PAK1IP1 Gene

genes like me logo Genes that share paralogs with PAK1IP1: view

Variants for PAK1IP1 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PAK1IP1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PAK1IP1 Gene

Variant ID Type Subtype PubMed ID
nsv462631 CNV gain 19166990
nsv470800 CNV gain 18288195
nsv520853 CNV loss 19592680
nsv600979 CNV gain 21841781
nsv966670 CNV duplication 23825009

Variation tolerance for PAK1IP1 Gene

Residual Variation Intolerance Score: 41.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.09; 50.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PAK1IP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PAK1IP1
Leiden Open Variation Database (LOVD)
PAK1IP1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PAK1IP1 Gene

Disorders for PAK1IP1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PAK1IP1 Gene - From: COP

Disorder Aliases PubMed IDs
robinow syndrome, autosomal dominant 1
  • drs1
robinow syndrome
  • acral dysostosis with facial and genital abnormalities
diamond-blackfan anemia
  • blackfan - diamond syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PAK1IP1

genes like me logo Genes that share disorders with PAK1IP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PAK1IP1 Gene

Publications for PAK1IP1 Gene

  1. Regulation of the p21-activated kinase (PAK) by a human Gbeta -like WD-repeat protein, hPIP1. (PMID: 11371639) Xia C … Liu M (Proceedings of the National Academy of Sciences of the United States of America 2001) 2 3 4 22
  2. The 5S RNP couples p53 homeostasis to ribosome biogenesis and nucleolar stress. (PMID: 24120868) Sloan KE … Watkins NJ (Cell reports 2013) 3 4
  3. 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
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4

Products for PAK1IP1 Gene

Sources for PAK1IP1 Gene