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CFDE Workbench

PAFAH1B1 (Gene)

Organism:

Homo sapiens

Taxonomy (Entity type)
Synonyms:ENTREZ:5048, HGNC:8574, LIS1, LIS2, MDCR, MDS, MIM:601545, NM_000430, NP_000421, NudF, PAFAH, PAFAH1B1, XM_011523901, XM_011523902, XM_011523903, XM_017024701, XM_017024702, XM_017024703, XP_011522203, XP_011522204, XP_011522205, XP_016880190, XP_016880191, XP_016880192, platelet activating factor acetylhydrolase 1b regulatory subunit 1
Omim:OMIM:601545
Id:ENSG00000007168
Hgnc:HGNC:8574
Entrez:5048
Ensembl:ENSG00000007168
Description:platelet activating factor acetylhydrolase 1b regulatory subunit 1
This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq, Apr 2009]

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Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View PAFAH1B1's neighborhood in the knowledge graph.

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Playbook Workflow Builder
Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with PAFAH1B1.

Gene Partnership Appyter
CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using PAFAH1B1.

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Gene and Drug Landing Page Aggregator
GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for PAFAH1B1.

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Playbook Workflow Builder
Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with PAFAH1B1.

Results found

Linked to

 

Label

Description

 

Gene Set

GSE179112 GSE179113 hydroxyl Hutt45 4 v 3 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE120612 etoposide leukocyte 7 v 2 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE182680 GSE182683 dexamethasone 10 v 3 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE153871 cytarabine U2OS 4 v 3 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE190937 AHCY MAT2A knockout Rael 4 v 1 human up

Gene Set (Entity type)

A Gene Set from LINCS

Phenotype

Ataxia

Phenotype (Entity type)

Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of el...

Gene Set

GSE120612 7 V 2 ETOPOSIDE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE168602 GSE168604 selumetinib COLO205 2 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE119978 GSE180930 cisplatin 3 v 4 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE213588 trametinib NF1 8 v 0 human dn

Gene Set (Entity type)

A Gene Set from LINCS

  • Gene Set

    GSE179112 GSE179113 hydroxyl Hutt45 4 v 3 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE120612 etoposide leukocyte 7 v 2 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE182680 GSE182683 dexamethasone 10 v 3 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE153871 cytarabine U2OS 4 v 3 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE190937 AHCY MAT2A knockout Rael 4 v 1 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Phenotype

    Ataxia

    Phenotype (Entity type)

    Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of el...

  • Gene Set

    GSE120612 7 V 2 ETOPOSIDE HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE168602 GSE168604 selumetinib COLO205 2 v 1 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE119978 GSE180930 cisplatin 3 v 4 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE213588 trametinib NF1 8 v 0 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

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    Community
    Workbench TutorialTraining & OutreachDocumentationGet QR CodesFunding Opportunities
    Resources
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    CFDE Workbench
    Report a bug
    The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.
    @CFDE Workbench 2026
    This repository is under review for potential modification in compliance with Administration directives.