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Gene: PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) Homo sapiens
Symbol: PAFAH1B1
Name: platelet activating factor acetylhydrolase 1b regulatory subunit 1
CRRD ID: 1349260
Description: Exhibits dynein complex binding activity. Involved in several processes, including adult locomotory behavior; microtubule cytoskeleton organization; and nervous system development. Localizes to several cellular components, including kinetochore; microtubule cytoskeleton; and nuclear envelope. Predicted to colocalize with cell leading edge. Implicated in lissencephaly. Biomarker of hepatocellular carcinoma and schizophrenia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: LIS-1; LIS1; LIS2; lissencephaly 1 protein; lissencephaly-1 protein; MDCR; MDS; Miller-Dieker syndrome chromosome region; NudF; PAF acetylhydrolase 45 kDa subunit; PAF-AH 45 kDa subunit; PAF-AH alpha; PAFAH; PAFAH alpha; platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa); platelet-activating factor acetylhydrolase IB subunit alpha; platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD); platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)
Related Pseudogenes: AL354719.1   PAFAH1B1P1   PAFAH1B1P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38.p13 Ensembl172,593,210 - 2,685,615 (+)EnsemblGRCh38hg38GRCh38
GRCh38172,593,210 - 2,685,617 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37172,496,923 - 2,588,909 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36172,443,686 - 2,535,638 (+)NCBINCBI36hg18NCBI36
Build 34172,443,685 - 2,535,638NCBI
Celera172,513,612 - 2,605,584 (+)NCBI
Cytogenetic Map17p13.3NCBI
HuRef172,389,423 - 2,481,264 (+)NCBIHuRef
CHM1_1172,525,188 - 2,529,780 (+)NCBICHM1_1
CHM1_1172,505,702 - 2,597,647 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


RNA-SEQ Expression


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on PAFAH1B1
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1349260
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2020-10-06
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.