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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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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