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Gene · 5048

PAFAH1B1: platelet activating factor acetylhydrolase 1b regulatory subunit 1

12 sourcesgene-search-2026-11-11-0.2.0

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ConductScience Library. PAFAH1B1: platelet activating factor acetylhydrolase 1b regulatory subunit 1. Genes, record 5048. Release gene-search-2026-11-11-0.2.0, 11 Nov 2026. https://conductscience.org/library/genes/5048

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Gene

Symbol
PAFAH1B1
HGNC
Name
platelet activating factor acetylhydrolase 1b regulatory subunit 1
HGNC
NCBI Gene ID
5048
NCBI Gene
HGNC ID
HGNC:8574
HGNC
Ensembl
ENSG00000007168
NCBI Gene
Aliases
LIS1, LIS2, MDCR, MDS, NudF, PAFAH
NCBI Gene
Type
protein-coding
NCBI Gene

Proteins1

Reviewed human proteins whose Swiss-Prot entry states the gene.

UniProt entryProteinLengthStructuresGene stated in
P43034Platelet-activating factor acetylhydrolase IB subunit beta41021Ensembl, GeneID, HGNC

Source UniProt

Patents31

Patents whose sequence listing contains this protein's exact sequence. A patent can list a sequence without claiming it.

PublicationPublishedSEQ ID NOProteinSource
JP 2026004568 A2026-01-1458135P43034Espacenet
EP 4641201 A22025-10-2912007P43034Espacenet
JP 2025517969 A2025-06-1212007P43034Espacenet
JP 2025032204 A2025-03-1132842P43034Espacenet
EP 4461818 A22024-11-1332842P43034Espacenet
US 11884978 B22024-01-30644P43034Espacenet
JP 2024009871 A2024-01-2380P43034Espacenet
JP 2023064789 A2023-05-1289P43034Espacenet
KR 1020230064910 A2023-05-111P43034Espacenet
WO 2023074712 A2023-05-0435P43034Espacenet

1 to 10 of 31

See all 31 patents

Drugs0

Drugs a ChEMBL mechanism record says act on the gene's protein, through Open Targets.

None in this release.

Trials0

Trials of those drugs. A trial joins the gene only through a drug that acts on it.

None in this release.

NIH grants1,317

NIH grants whose papers are about the gene, through NIH's grant-paper links.

GrantTitlePAFAH1B1 papersNewest fiscal year
R01NS032457Cell Identity Determination in Human Brain: Somatic Mutation and Cell Lineage112025
R01NS058721ACC: Callosal Agenesis as a Window into Common Neurodevelopmental Disorders92025
R35GM136414The Mechanism and Regulation of the Dynein Transport Machinery62025
R35GM139483Regulation of Dynein-Mediated Transport62025
R35GM141825Mechanisms of microtubule-based transport62025
R37NS035129Human Epilepsy Genetics - Mosaic Mutations in Focal Epilepsy62025
P30CA008748Cancer Center Support Grant52025
R01GM098469Molecular Mechanism of the Cytoplasmic Dynein-Dynactin Motor Complex42025
R35GM124889Coordination of molecular motor activity in intracellular transport and assembly of cytoskeletal archit42025
R35GM126950Molecular Mechanisms of Axonal Transport and Organelle Dynamics42025

1 to 10 of 1,317Source NIH's project files

See all 1,317 nih grants

Papers1,956

Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.

TitleJournalYearPMIDFound bySource
Genotype-phenotypic correlation in a Chinese patient with isolated lissencephaly sequence caused by 17p13.3p13.2 chromosomal microdeletion: a 6-year follow-up study.Front Genet202642775388PubTator, text miningPubMed
USP6-FISH Negative Nodular Fasciitis: Benign Impostor of the Orbit.Ophthalmic Plast Reconstr Surg202642727019PubTator, text miningPubMed
[A case of bilateral open-lip schizencephaly with West syndrome due to variant of PAFAH1B1 gene and literature review].Zhonghua Yi Xue Yi Chuan Xue Za Zhi202642711133PubTator, text miningPubMed
Genotype-Driven MRI Re-evaluation Reveals Subtle PAFAH1B1-Related Lissencephaly.J Child Neurol202642658896PubTator, text miningPubMed
Corpus Callosotomy in LIS1 Lissencephaly: Postoperative Ketogenic Diet-Related Metabolic Derangements and Feeding Intolerance.Cureus202642453837PubTator, text miningPubMed
Deep learning-based identification of causative genes in lissencephaly using 3D-MRI volumetric datasets.Neuroimage Rep202642381865PubTator, text miningPubMed
Bronchoalveolar lavage microbiota signatures and stage-associated alterations in early-stage and advanced-stage non-small cell lung cancer: a pilot study.J Transl Med202642321844PubTator, text miningPubMed
The P3018S disease variant reveals how dynein's trailing motor sets ensemble velocity.bioRxiv202642239374PubTator, text miningPubMed
Structural and ensemble-based mechanistic insights into cytoplasmic dynein-1.Front Mol Biosci202642181769PubTator, text miningPubMed
Gene-specific long-term course, neurodevelopmental outcome and quality of life in patients with LIS1/PAFAH1B1-, DCX-, DYNC1H1-, TUBA1A- and TUBG1-related lissencephaly.Orphanet J Rare Dis202642177523PubTator, text miningPubMed

1 to 10 of 1,956

See all 1,956 papers

Sources 12

  • ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
  • ChEMBL, through Open TargetsCC BY-SA 3.0
  • ClinicalTrials.govNo license stated
  • EMBL-EBI's patent proteinsNo added restrictions. Attribution expected
  • GenBank's patent filesNo restrictions from NCBI. Submitters may hold rights
  • HGNCCC0
  • NCBI GenePublic domain (US government)
  • NIH's project files and grant-paper linksPublic domain
  • Open TargetsCC0 1.0
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0
Each source's terms
  • ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
  • ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • ClinicalTrials.govnone stated
  • EMBL-EBI's patent proteinsEMBL-EBI's patent protein files from the EPO, JPO, KIPO and USPTO. EMBL-EBI: "EMBL-EBI itself places no additional restrictions on the use or redistribution of the data available via its Data Resources and Tools other than those provided by the original data owners" and "EMBL-EBI expects attribution (e.g. in publications, services or products) for the use of any of its Data Resources and Tools." Read on 11 Nov 2026 at https://www.ebi.ac.uk/about/terms-of-use
  • GenBank's patent filesGenBank's patent files. NCBI: "NCBI places no restrictions on the use or distribution of the GenBank data. However, some submitters may claim patent, copyright, or other intellectual property rights in all or a portion of the data they have submitted." Read on 11 Nov 2026 at https://www.ncbi.nlm.nih.gov/genbank/about/
  • HGNCCC0: https://www.genenames.org/about/license/
  • NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
  • NIH's project files and grant-paper linksPublic domain (NIH RePORTER)
  • Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

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