PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1)
2011-08-01 AffiliationIdentity
HGNC
LOCATION
17p13.3
LOCUSID
ALIAS
LIS1,LIS2,MDCR,MDS,NudF,PAFAH
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 5048
MIM: 601545
HGNC: 8574
Ensembl: ENSG00000007168
Variants:
dbSNP: 5048
ClinVar: 5048
TCGA: ENSG00000007168
COSMIC: PAFAH1B1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000007168 | ENST00000397195 | P43034 |
| ENSG00000007168 | ENST00000570400 | I3L384 |
| ENSG00000007168 | ENST00000574468 | I3L3N5 |
| ENSG00000007168 | ENST00000576586 | I3L495 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38364333 | 2024 | Clinical analysis of PAFAH1B1 gene variants in pediatric patients with epilepsy. | 1 |
| 38547289 | 2024 | Molecular mechanism of dynein-dynactin complex assembly by LIS1. | 3 |
| 38364333 | 2024 | Clinical analysis of PAFAH1B1 gene variants in pediatric patients with epilepsy. | 1 |
| 38547289 | 2024 | Molecular mechanism of dynein-dynactin complex assembly by LIS1. | 3 |
| 36274587 | 2023 | Lis1-dynein drives corona compaction and limits erroneous microtubule attachment at kinetochores. | 3 |
| 36274587 | 2023 | Lis1-dynein drives corona compaction and limits erroneous microtubule attachment at kinetochores. | 3 |
| 35567955 | 2022 | Prenatal diagnosis of Miller-Dieker syndrome/PAFAH1B1-related lissencephaly: Ultrasonography and genetically investigative results. | 3 |
| 36104662 | 2022 | NudCD1 as a prognostic marker in colorectal cancer and its role in the upregulation of cellular spindle assembly checkpoint genes and LIS1 pathways. | 0 |
| 35567955 | 2022 | Prenatal diagnosis of Miller-Dieker syndrome/PAFAH1B1-related lissencephaly: Ultrasonography and genetically investigative results. | 3 |
| 36104662 | 2022 | NudCD1 as a prognostic marker in colorectal cancer and its role in the upregulation of cellular spindle assembly checkpoint genes and LIS1 pathways. | 0 |
| 33026665 | 2021 | Prenatal diagnosis of Miller-Dieker syndrome by chromosomal microarray. | 1 |
| 33565082 | 2021 | Human cytomegalovirus infection is associated with increased expression of the lissencephaly gene PAFAH1B1 encoding LIS1 in neural stem cells and congenitally infected brains. | 8 |
| 33026665 | 2021 | Prenatal diagnosis of Miller-Dieker syndrome by chromosomal microarray. | 1 |
| 33565082 | 2021 | Human cytomegalovirus infection is associated with increased expression of the lissencephaly gene PAFAH1B1 encoding LIS1 in neural stem cells and congenitally infected brains. | 8 |
| 32341549 | 2020 | LIS1 promotes the formation of activated cytoplasmic dynein-1 complexes. | 60 |
Citation
Dessen P
PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1)
Atlas Genet Cytogenet Oncol Haematol. 2011-08-01
Online version: http://atlasgeneticsoncology.org/gene/52321/pafah1b1
