platelet activating factor acetylhydrolase 1b regulatory subunit 1

Summary
Gene Symbol
  • PAFAH1B1
Aliases
  • LIS1
  • NudF
  • PAFAH
  • lissencephaly-1
Organism
Homo sapiens (human)
External Links
NCBI Gene
5048
HGNC
8574
KEGG Gene ID
hsa:5048
PubChem
5048
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Coiled coil
  • Cytoskeleton
  • Developmental protein
  • Differentiation
  • Disease variant
  • Lipid degradation
  • Lissencephaly
  • Membrane
  • Microtubule
  • Mitosis
  • Neurogenesis
  • Nucleus
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
  • Repeat
  • Transport
  • WD repeat
Proteins
Displaying all 2 entries
UniProt Protein Name
P43034
  • Lissencephaly-1 protein
  • PAF acetylhydrolase 45 kDa subunit
  • PAF-AH alpha
A0A6Q8PFU3
  • Lissencephaly-1 protein
  • PAF acetylhydrolase 45 kDa subunit
  • PAF-AH alpha
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
Human Protein Atlas
ENSG00000007168

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K16794
Name
platelet-activating factor acetylhydrolase IB subunit alpha
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 195 in total
DO ID Disease Name Source
DOID:0050387 nonpapillary renal cell carcinoma
DOID:0050424 familial adenomatous polyposis
DOID:0050453 lissencephaly
DOID:0050454 periventricular nodular heterotopia
DOID:0050458 juvenile myelomonocytic leukemia
DOID:0050562 West syndrome
DOID:4766 embryoma
DOID:0050589 inflammatory bowel disease
DOID:0050635 alternating hemiplegia of childhood
DOID:0050646 distal arthrogryposis
The Human Phenotype Ontology
Displaying entries 1 - 10 of 78 in total
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0000023 Inguinal hernia
HP:0000098 Tall stature
HP:0000112 Nephropathy
HP:0000160 Narrow mouth
HP:0000177 Abnormal upper lip morphology
HP:0000218 High palate
HP:0000253 Progressive microcephaly
HP:0000286 Epicanthus
HP:0000316 Hypertelorism
Displaying all 4 entries
Disease ID Disease Name
ORPHA:531
  • Miller-Dieker lissencephaly syndrome
ORPHA:95232
  • lissencephaly due to LIS1 mutation
OMIM:607432
  • lissencephaly due to LIS1 mutation
ORPHA:217385
  • chromosome 17p13.3 duplication syndrome
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP001247
Gene Name
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024