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Gene: PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) Homo sapiens
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Symbol: PAFAH1B1
Name: platelet activating factor acetylhydrolase 1b regulatory subunit 1
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 the kinetochore; microtubule cytoskeleton; and nuclear envelope. Predicted to colocalize with the 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)
Orthologs:
Related Pseudogenes: PAFAH1B1P1   PAFAH1B1P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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_1172,505,702 - 2,597,647 (+)NCBICHM1_1
CHM1_1172,525,188 - 2,529,780 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
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Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

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

RGD Object Information
RGD ID: 1349260
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-11-26
Status: ACTIVE



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