PAK1IP1 (PAK1 interacting protein 1)

2014-03-01  

Identity

HGNC
LOCATION
6p24.2
LOCUSID
ALIAS
MAK11,PIP1,WDR84,bA421M1.5,hPIP1
FUSION GENES

Other Information

Locus ID:

NCBI: 55003
MIM: 607811
HGNC: 20882
Ensembl: ENSG00000111845

Variants:

dbSNP: 55003
ClinVar: 55003
TCGA: ENSG00000111845
COSMIC: PAK1IP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000111845ENST00000379568Q9NWT1
ENSG00000111845ENST00000379568A0A0S2Z5C3

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
239359872013A mutation in mouse Pak1ip1 causes orofacial clefting while human PAK1IP1 maps to 6p24 translocation breaking points associated with orofacial clefting.5

Citation

Dessen P

PAK1IP1 (PAK1 interacting protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-03-01

Online version: http://atlasgeneticsoncology.org/gene/53823/pak1ip1