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PAK1IP1 PAK1 interacting protein 1 [ Homo sapiens (human) ]

Gene ID: 55003, updated on 2-Nov-2024

Summary

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Official Symbol
PAK1IP1provided by HGNC
Official Full Name
PAK1 interacting protein 1provided by HGNC
Primary source
HGNC:HGNC:20882
See related
Ensembl:ENSG00000111845 MIM:607811; AllianceGenome:HGNC:20882
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PIP1; MAK11; WDR84; hPIP1; bA421M1.5
Summary
Involved in regulation of signal transduction by p53 class mediator and ribosomal large subunit biogenesis. Located in nucleolus. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in prostate (RPKM 23.6), appendix (RPKM 6.7) and 24 other tissues See more
Orthologs
mouse all
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Genomic context

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See PAK1IP1 in Genome Data Viewer
Location:
6p24.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (10690865..10709782)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (10558584..10577501)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (10695205..10710015)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene glucosaminyl (N-acetyl) transferase 2 (I blood group) Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:10575275-10575920 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:10575921-10576566 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:10576567-10577212 Neighboring gene Sharpr-MPRA regulatory region 5327 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:10582905-10583878 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:10585827-10586799 Neighboring gene ribosomal protein L21 pseudogene 63 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:10589255-10589802 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:10596165-10597152 Neighboring gene GCNT2 pseudogene 1 Neighboring gene MPRA-validated peak5653 silencer Neighboring gene chromosome 6 open reading frame 52 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23970 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:10694821-10695423 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16902 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16903 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:10723303-10724199 Neighboring gene Sharpr-MPRA regulatory region 12108 Neighboring gene transmembrane protein 14C Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23972 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:10747832-10748052 Neighboring gene TMEM14B divergent transcript

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Regulation of the p21-activated kinase (PAK) by a human Gbeta -like WD-repeat protein, hPIP1. Xia C, et al. Proc Natl Acad Sci U S A, 2001 May 22. PMID 11371639, Free PMC Article
  2. PAK1IP1, a ribosomal stress-induced nucleolar protein, regulates cell proliferation via the p53-MDM2 loop. Yu W, et al. Nucleic Acids Res, 2011 Mar. PMID 21097889, Free PMC Article
  3. TIN2 binds TRF1 and TRF2 simultaneously and stabilizes the TRF2 complex on telomeres. Ye JZ, et al. J Biol Chem, 2004 Nov 5. PMID 15316005
  4. A mutation in mouse Pak1ip1 causes orofacial clefting while human PAK1IP1 maps to 6p24 translocation breaking points associated with orofacial clefting. Ross AP, et al. PLoS One, 2013. PMID 23935987, Free PMC Article
  5. Regulation of AChR clustering by Dishevelled interacting with MuSK and PAK1. Luo ZG, et al. Neuron, 2002 Aug 1. PMID 12165471

See all (65) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A mutation in mouse Pak1ip1 causes orofacial clefting while human PAK1IP1 maps to 6p24 translocation breaking points associated with orofacial clefting.
    Title: A mutation in mouse Pak1ip1 causes orofacial clefting while human PAK1IP1 maps to 6p24 translocation breaking points associated with orofacial clefting.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ20624

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein kinase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in cell population proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of signal transduction by p53 class mediator IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in ribosomal large subunit biogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in roof of mouth development IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in nucleolus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleolus IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
p21-activated protein kinase-interacting protein 1
Names
PAK/PLC-interacting protein 1
WD repeat-containing protein 84

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_017906.3 → NP_060376.2  p21-activated protein kinase-interacting protein 1

    See identical proteins and their annotated locations for NP_060376.2

    Status: VALIDATED

    Source sequence(s)
    AF283303, AL358777, BC010907, BU618231
    Consensus CDS
    CCDS34339.1
    UniProtKB/Swiss-Prot
    Q5T4J2, Q96QJ8, Q96T87, Q9NWT1
    UniProtKB/TrEMBL
    A0A0S2Z5C3
    Related
    ENSP00000368887.3, ENST00000379568.4
    Conserved Domains (3) summary
    COG2319
    Location:26 → 277
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:45 → 80
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:41 → 275
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    10690865..10709782
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011514721.1 → XP_011513023.1  p21-activated protein kinase-interacting protein 1 isoform X1

    Conserved Domains (3) summary
    COG2319
    Location:59 → 299
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:67 → 102
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:63 → 297
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

  2. XM_005249204.3 → XP_005249261.1  p21-activated protein kinase-interacting protein 1 isoform X2

    Conserved Domains (3) summary
    COG2319
    Location:38 → 278
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:46 → 81
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:42 → 276
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_018654713.1 Reference GRCh38.p14 PATCHES

    Range
    201749..220666
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054332169.1 → XP_054188144.1  p21-activated protein kinase-interacting protein 1 isoform X1

  2. XM_054332170.1 → XP_054188145.1  p21-activated protein kinase-interacting protein 1 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    10558584..10577501
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054355758.1 → XP_054211733.1  p21-activated protein kinase-interacting protein 1 isoform X1

  2. XM_054355759.1 → XP_054211734.1  p21-activated protein kinase-interacting protein 1 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NWT1.2 GenPept UniProtKB/Swiss-Prot:Q9NWT1

Gene LinkOut

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