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

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, 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

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_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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)

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

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

10690865..10709782

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...
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

NW_018654713.1 Reference GRCh38.p14 PATCHES

Range

201749..220666

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054332169.1 → XP_054188144.1 p21-activated protein kinase-interacting protein 1 isoform X1
XM_054332170.1 → XP_054188145.1 p21-activated protein kinase-interacting protein 1 isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

10558584..10577501

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054355758.1 → XP_054211733.1 p21-activated protein kinase-interacting protein 1 isoform X1
XM_054355759.1 → XP_054211734.1 p21-activated protein kinase-interacting protein 1 isoform X2