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

Gene ID: 55003, updated on 6-Nov-2022

Summary

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, Apr 2022]
Expression
Ubiquitous expression in prostate (RPKM 23.6), appendix (RPKM 6.7) and 24 other tissues See more
Orthologs
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Genomic context

See PAK1IP1 in Genome Data Viewer
Location:
6p24.2
Exon count:
12
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (10690865..10709782)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (10562691..10577501)
105.20220307 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 Sharpr-MPRA regulatory region 5327 Neighboring gene GCNT2 pseudogene 1 Neighboring gene chromosome 6 open reading frame 52 Neighboring gene Sharpr-MPRA regulatory region 12108 Neighboring gene transmembrane protein 14C Neighboring gene TMEM14B divergent transcript

Genomic regions, transcripts, and products

Expression

  • Project title: 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
Process Evidence Code Pubs
involved_in cell population proliferation IEA
Inferred from Electronic Annotation
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
located_in nucleolus IDA
Inferred from Direct Assay
more info
 

General protein information

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_017906.3NP_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
    Q96T87, Q9NWT1
    UniProtKB/TrEMBL
    A0A0S2Z5C3
    Related
    ENSP00000368887.3, ENST00000379568.4
    Conserved Domains (3) summary
    COG2319
    Location:26277
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:4580
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:41275
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_011514721.1XP_011513023.1  p21-activated protein kinase-interacting protein 1 isoform X1

    Conserved Domains (3) summary
    COG2319
    Location:59299
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:67102
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:63297
    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_005249204.3XP_005249261.1  p21-activated protein kinase-interacting protein 1 isoform X2

    Conserved Domains (3) summary
    COG2319
    Location:38278
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:4681
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:42276
    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
    205856..220666
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    10562691..10577501
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)