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Aliases for PAFAH1B1 Gene

Aliases for PAFAH1B1 Gene

  • Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1 2 3 5
  • Platelet-Activating Factor Acetylhydrolase, Isoform Ib, Alpha Subunit (45kD) 2 3
  • Platelet-Activating Factor Acetylhydrolase 1b, Regulatory Subunit 1 (45kDa) 2 3
  • Platelet-Activating Factor Acetylhydrolase, Isoform Ib, Subunit 1 (45kDa) 2 3
  • MDCR 3 4
  • LIS1 3 4
  • MDS 3 4
  • Platelet-Activating Factor Acetylhydrolase, Isoform Ib, Alpha Subunit 45kDa 2
  • Platelet-Activating Factor Acetylhydrolase IB Subunit Alpha 3
  • Miller-Dieker Syndrome Chromosome Region 2
  • PAF Acetylhydrolase 45 KDa Subunit 4
  • Lissencephaly 1 Protein 3
  • Lissencephaly-1 Protein 4
  • PAF-AH 45 KDa Subunit 4
  • Lissencephaly-1 2
  • PAF-AH Alpha 4
  • PAFAH Alpha 4
  • PAFAHA 4
  • PAFAH 3
  • LIS-1 4
  • LIS2 3
  • NudF 3

External Ids for PAFAH1B1 Gene

Previous HGNC Symbols for PAFAH1B1 Gene

  • MDCR
  • MDS

Previous GeneCards Identifiers for PAFAH1B1 Gene

  • GC17P002810
  • GC17P002447
  • GC17P002703
  • GC17P002443
  • GC17P002496

Summaries for PAFAH1B1 Gene

Entrez Gene Summary for PAFAH1B1 Gene

  • 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]

GeneCards Summary for PAFAH1B1 Gene

PAFAH1B1 (Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1) is a Protein Coding gene. Diseases associated with PAFAH1B1 include Lissencephaly 1 and Subcortical Band Heterotopia. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Cell Cycle, Mitotic. GO annotations related to this gene include protein homodimerization activity and microtubule binding. An important paralog of this gene is DAW1.

UniProtKB/Swiss-Prot for PAFAH1B1 Gene

  • Required for proper activation of Rho GTPases and actin polymerization at the leading edge of locomoting cerebellar neurons and postmigratory hippocampal neurons in response to calcium influx triggered via NMDA receptors. Non-catalytic subunit of an acetylhydrolase complex which inactivates platelet-activating factor (PAF) by removing the acetyl group at the SN-2 position (By similarity). Positively regulates the activity of the minus-end directed microtubule motor protein dynein. May enhance dynein-mediated microtubule sliding by targeting dynein to the microtubule plus end. Required for several dynein- and microtubule-dependent processes such as the maintenance of Golgi integrity, the peripheral transport of microtubule fragments and the coupling of the nucleus and centrosome. Required during brain development for the proliferation of neuronal precursors and the migration of newly formed neurons from the ventricular/subventricular zone toward the cortical plate. Neuronal migration involves a process called nucleokinesis, whereby migrating cells extend an anterior process into which the nucleus subsequently translocates. During nucleokinesis dynein at the nuclear surface may translocate the nucleus towards the centrosome by exerting force on centrosomal microtubules. May also play a role in other forms of cell locomotion including the migration of fibroblasts during wound healing. Required for dynein recruitment to microtubule plus ends and BICD2-bound cargos (PubMed:22956769).

Gene Wiki entry for PAFAH1B1 Gene

Additional gene information for PAFAH1B1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PAFAH1B1 Gene

Genomics for PAFAH1B1 Gene

Regulatory Elements for PAFAH1B1 Gene

Enhancers for PAFAH1B1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H002390 1.9 FANTOM5 ENCODE dbSUPER 8.9 -194.2 -194199 18 MLX FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC SSRP1 ZNF610 ZNF585B METTL16 PRPF8 SMYD4 HNRNPA1P16 SMG6 MNT TSR1 ENSG00000263345 SGSM2 RPA1
GH17H002136 1.8 FANTOM5 Ensembl ENCODE dbSUPER 5.3 -455.1 -455135 3 PKNOX1 FEZF1 ZNF2 GATA2 FOS KLF7 RUNX3 JUNB TSHZ1 ZNF623 ENSG00000236838 HIC1 OVCA2 SGSM2 TSR1 SCARF1 SRR WDR81 PAFAH1B1 CCDC90AP1
GH17H001729 1.4 Ensembl ENCODE dbSUPER 6.1 -862.5 -862549 2 ATF1 NFRKB TCF12 ZNF766 GATA2 EGR1 SCRT2 ATF7 CREM ZBTB11 SMYD4 RPA1 TLCD2 METTL16 PRPF8 SERPINF2 TSR1 HNRNPA1P16 SMG6 DPH1
GH17H001721 1.7 FANTOM5 ENCODE dbSUPER 4.8 -869.2 -869197 4 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF143 FOS PAF1 SMYD4 RPA1 METTL16 PRPF8 SERPINF2 TLCD2 ENSG00000263050 HNRNPA1P16 DPH1 CRK
GH17H002847 1.7 FANTOM5 Ensembl ENCODE dbSUPER 4 +255.6 255612 1 ELF3 INSM2 KLF17 SIN3A ZNF2 RAD21 ZEB1 GLIS2 ZNF366 ZNF143 OR1D5 SAMD11P1 OR1D2 EIF4A1P9 OR1E3 OR1D3P OR3A4P OR1E2 ENSG00000262869 PAFAH1B1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PAFAH1B1 on UCSC Golden Path with GeneCards custom track

Promoters for PAFAH1B1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000090253 1190 3201 ATF1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 GLIS2

Genomic Location for PAFAH1B1 Gene

Chromosome:
17
Start:
2,593,210 bp from pter
End:
2,685,617 bp from pter
Size:
92,408 bases
Orientation:
Plus strand

Genomic View for PAFAH1B1 Gene

Genes around PAFAH1B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PAFAH1B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PAFAH1B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PAFAH1B1 Gene

Proteins for PAFAH1B1 Gene

  • Protein details for PAFAH1B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P43034-LIS1_HUMAN
    Recommended name:
    Platelet-activating factor acetylhydrolase IB subunit alpha
    Protein Accession:
    P43034
    Secondary Accessions:
    • B2R7Q7
    • Q8WZ88
    • Q8WZ89

    Protein attributes for PAFAH1B1 Gene

    Size:
    410 amino acids
    Molecular mass:
    46638 Da
    Quaternary structure:
    • Component of cytosolic PAF-AH IB, which is composed of PAFAH1B1 (alpha), PAFAH1B2 (beta) and PAFAH1B3 (gamma) subunits. Trimer formation is not essential for the catalytic activity of the enzyme which is contributed solely by the PAFAH1B2 (beta) and PAFAH1B3 (gamma) subunits. Interacts with IQGAP1, KATNB1 and NUDC. Interacts with DAB1 when DAB1 is phosphorylated in response to RELN/reelin signaling (By similarity). Can self-associate. Interacts with DCX, dynein, dynactin, NDE1, NDEL1 and RSN. Interacts with DISC1, and this interaction is enhanced by NDEL1. Interacts with ASUN.
    SequenceCaution:
    • Sequence=AAA02882.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence={ECO:0000305};

    Alternative splice isoforms for PAFAH1B1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PAFAH1B1 Gene

Post-translational modifications for PAFAH1B1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PAFAH1B1 (PAFAH1B1)
  • Abcam antibodies for PAFAH1B1

No data available for DME Specific Peptides for PAFAH1B1 Gene

Domains & Families for PAFAH1B1 Gene

Gene Families for PAFAH1B1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

P43034

UniProtKB/Swiss-Prot:

LIS1_HUMAN :
  • Dimerization mediated by the LisH domain may be required to activate dynein.
  • Belongs to the WD repeat LIS1/nudF family.
Domain:
  • Dimerization mediated by the LisH domain may be required to activate dynein.
Family:
  • Belongs to the WD repeat LIS1/nudF family.
genes like me logo Genes that share domains with PAFAH1B1: view

Function for PAFAH1B1 Gene

Molecular function for PAFAH1B1 Gene

GENATLAS Biochemistry:
platelet activating factor acetylhydrolase,microtubule associated protein,plasma isoform 1b,non catalytic alpha subunit ,component of overlapping but distinct signal pathways including DCX that promotes neuronal migration,expressed in fetal brain,regulated by phosphorylation,required for ordered neuronal migration in the cortex,deleted or mutated in isolated lissencephaly,also deleted in Miller-Dieker syndrome
UniProtKB/Swiss-Prot Function:
Required for proper activation of Rho GTPases and actin polymerization at the leading edge of locomoting cerebellar neurons and postmigratory hippocampal neurons in response to calcium influx triggered via NMDA receptors. Non-catalytic subunit of an acetylhydrolase complex which inactivates platelet-activating factor (PAF) by removing the acetyl group at the SN-2 position (By similarity). Positively regulates the activity of the minus-end directed microtubule motor protein dynein. May enhance dynein-mediated microtubule sliding by targeting dynein to the microtubule plus end. Required for several dynein- and microtubule-dependent processes such as the maintenance of Golgi integrity, the peripheral transport of microtubule fragments and the coupling of the nucleus and centrosome. Required during brain development for the proliferation of neuronal precursors and the migration of newly formed neurons from the ventricular/subventricular zone toward the cortical plate. Neuronal migration involves a process called nucleokinesis, whereby migrating cells extend an anterior process into which the nucleus subsequently translocates. During nucleokinesis dynein at the nuclear surface may translocate the nucleus towards the centrosome by exerting force on centrosomal microtubules. May also play a role in other forms of cell locomotion including the migration of fibroblasts during wound healing. Required for dynein recruitment to microtubule plus ends and BICD2-bound cargos (PubMed:22956769).

Phenotypes From GWAS Catalog for PAFAH1B1 Gene

Gene Ontology (GO) - Molecular Function for PAFAH1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004623 phospholipase A2 activity TAS --
GO:0005515 protein binding IPI 10931877
GO:0008017 microtubule binding ISS,IEA 10729324
GO:0008201 heparin binding ISS 8028668
GO:0032403 protein complex binding IEA --
genes like me logo Genes that share ontologies with PAFAH1B1: view
genes like me logo Genes that share phenotypes with PAFAH1B1: view

Human Phenotype Ontology for PAFAH1B1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PAFAH1B1 Gene

MGI Knock Outs for PAFAH1B1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PAFAH1B1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PAFAH1B1 Gene

Localization for PAFAH1B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PAFAH1B1 Gene

Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Nucleus membrane. Note=Redistributes to axons during neuronal development. Also localizes to the microtubules of the manchette in elongating spermatids and to the meiotic spindle in spermatocytes (By similarity). Localizes to the plus end of microtubules and to the centrosome. May localize to the nuclear membrane. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PAFAH1B1 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 4
golgi apparatus 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PAFAH1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000235 astral microtubule IDA 11940666
GO:0000776 kinetochore IDA 11056532
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope IDA,IEA 11940666
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with PAFAH1B1: view

Pathways & Interactions for PAFAH1B1 Gene

genes like me logo Genes that share pathways with PAFAH1B1: view

Gene Ontology (GO) - Biological Process for PAFAH1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0000132 establishment of mitotic spindle orientation IMP 11056532
GO:0000226 microtubule cytoskeleton organization ISS 10729324
GO:0001667 ameboidal-type cell migration IEA --
GO:0001675 acrosome assembly ISS,IEA --
genes like me logo Genes that share ontologies with PAFAH1B1: view

No data available for SIGNOR curated interactions for PAFAH1B1 Gene

Drugs & Compounds for PAFAH1B1 Gene

(11) Drugs for PAFAH1B1 Gene - From: ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
acetic acid Approved Nutra Full agonist, Agonist 115
Gossypol Investigational Pharma PAF inhibitor;anti-fertility and anti-cancer, Proapoptotic; downregulates Bcl-2 and Bcl-XL 24
calcium Nutra 0

(10) Additional Compounds for PAFAH1B1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
LysoPC(O-18:0)
  • 1-Octadecyl-sn-glycero-3-phosphocholine
  • LysoPC(18:0e/0:0)
  • LysoPC(dm18:0)
  • LysoPC(O-18:0)
  • LysoPC(O-18:0/0:0)
PC(18:1(9Z)e/2:0)
  • (2-acetyloxy-3-octadec-9-enoxypropyl) 2-trimethylazaniumylethyl phosphate
  • 2-Acetyl-1-(9Z-octadecenyl)-sn-glycero-3-phosphocholine
  • PC(O-18:1(9Z)/2:0)

(1) ApexBio Compounds for PAFAH1B1 Gene

Compound Action Cas Number
Gossypol PAF inhibitor;anti-fertility and anti-cancer 303-45-7
genes like me logo Genes that share compounds with PAFAH1B1: view

Drug Products

Transcripts for PAFAH1B1 Gene

Unigene Clusters for PAFAH1B1 Gene

Platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PAFAH1B1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for PAFAH1B1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14 ^ 15
SP1: - - - -
SP2: - - - - - - - - - - - -
SP3: -
SP4: - - - -
SP5: - -
SP6: - - -
SP7:
SP8: -

Relevant External Links for PAFAH1B1 Gene

GeneLoc Exon Structure for
PAFAH1B1
ECgene alternative splicing isoforms for
PAFAH1B1

Expression for PAFAH1B1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PAFAH1B1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PAFAH1B1 Gene



Protein tissue co-expression partners for PAFAH1B1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PAFAH1B1 Gene:

PAFAH1B1

SOURCE GeneReport for Unigene cluster for PAFAH1B1 Gene:

Hs.77318

mRNA Expression by UniProt/SwissProt for PAFAH1B1 Gene:

P43034-LIS1_HUMAN
Tissue specificity: Fairly ubiquitous expression in both the frontal and occipital areas of the brain.

Evidence on tissue expression from TISSUES for PAFAH1B1 Gene

  • Nervous system(5)
  • Intestine(4.3)
  • Kidney(4.3)
  • Liver(4.3)
  • Lung(2.8)
  • Eye(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PAFAH1B1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
Thorax:
  • bronchus
  • chest wall
  • heart
  • lung
  • trachea
Abdomen:
  • abdominal wall
  • biliary tract
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • penis
  • placenta
  • testicle
  • uterus
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
genes like me logo Genes that share expression patterns with PAFAH1B1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein differential expression in normal tissues for PAFAH1B1 Gene

Orthologs for PAFAH1B1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PAFAH1B1 Gene

Organism Taxonomy Gene Similarity Type Details
platypus
(Ornithorhynchus anatinus)
Mammalia PAFAH1B1 34
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PAFAH1B1 33 34
  • 99.59 (n)
oppossum
(Monodelphis domestica)
Mammalia PAFAH1B1 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PAFAH1B1 33 34
  • 97.07 (n)
cow
(Bos Taurus)
Mammalia PAFAH1B1 33 34
  • 96.59 (n)
rat
(Rattus norvegicus)
Mammalia Pafah1b1 33
  • 95.28 (n)
mouse
(Mus musculus)
Mammalia Pafah1b1 33 16 34
  • 95.12 (n)
chicken
(Gallus gallus)
Aves PAFAH1B1 33 34
  • 89.35 (n)
lizard
(Anolis carolinensis)
Reptilia PAFAH1B1 34
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pafah1b1 33
  • 85.04 (n)
Str.10386 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.5347 33
zebrafish
(Danio rerio)
Actinopterygii pafah1b1b 34
  • 94 (a)
OneToMany
pafah1b1a 33 34
  • 82.03 (n)
fruit fly
(Drosophila melanogaster)
Insecta Lis1 35
  • 70 (a)
Lis-1 34
  • 69 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea lis-1 35 33 34
  • 59.47 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RSA4 34
  • 19 (a)
OneToMany
corn
(Zea mays)
Liliopsida Zm.1434 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3512 34
  • 70 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU04534 33
  • 52.2 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13232 33
Species where no ortholog for PAFAH1B1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PAFAH1B1 Gene

ENSEMBL:
Gene Tree for PAFAH1B1 (if available)
TreeFam:
Gene Tree for PAFAH1B1 (if available)

Paralogs for PAFAH1B1 Gene

Paralogs for PAFAH1B1 Gene

(12) SIMAP similar genes for PAFAH1B1 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for PAFAH1B1 Gene

genes like me logo Genes that share paralogs with PAFAH1B1: view

Variants for PAFAH1B1 Gene

Sequence variations from dbSNP and Humsavar for PAFAH1B1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs121434482 Pathogenic, Lissencephaly 1 (LIS1) [MIM:607432] 2,670,209(+) AGGAC(A/G)TACAG reference, missense
rs121434484 Pathogenic, Subcortical band heterotopia (SBH) [MIM:607432] 2,670,268(+) CCTGT(C/T)CTGCA reference, missense
rs121434485 Pathogenic, Lissencephaly 1 (LIS1) [MIM:607432] 2,676,553(+) CCAGA(C/G)ACAAG reference, missense
rs121434486 Pathogenic, Lissencephaly 1 (LIS1) [MIM:607432] 2,665,431(+) AGTTT(C/T)TAAAA intron-variant, reference, missense
rs121434487 other, Lissencephaly 1 (LIS1) [MIM:607432] 2,670,247(+) ACAGC(A/G)GCAAG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PAFAH1B1 Gene

Variant ID Type Subtype PubMed ID
esv2660206 CNV deletion 23128226
esv2664869 CNV deletion 23128226
esv2715502 CNV deletion 23290073
esv2715503 CNV deletion 23290073
esv275250 CNV gain+loss 21479260
esv3572343 CNV gain 25503493
esv3582486 CNV loss 25503493
esv3639714 CNV loss 21293372
esv3639715 CNV loss 21293372
nsv1055844 CNV gain 25217958
nsv1065489 CNV gain 25217958
nsv1070794 CNV deletion 25765185
nsv1123087 CNV deletion 24896259
nsv516756 CNV gain 19592680
nsv833339 CNV loss 17160897
nsv954919 CNV deletion 24416366

Variation tolerance for PAFAH1B1 Gene

Residual Variation Intolerance Score: 22.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.18; 4.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PAFAH1B1 Gene

Human Gene Mutation Database (HGMD)
PAFAH1B1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PAFAH1B1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PAFAH1B1 Gene

Disorders for PAFAH1B1 Gene

MalaCards: The human disease database

(25) MalaCards diseases for PAFAH1B1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lissencephaly 1
  • subcortical laminar heterotopia
subcortical band heterotopia
  • subcortical laminar heterotopia
miller-dieker lissencephaly syndrome
  • mds
isolated 17-linked lissencephaly
  • ils
lissencephaly
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

LIS1_HUMAN
  • Lissencephaly 1 (LIS1) [MIM:607432]: A classical lissencephaly. It is characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. The cortex is abnormally thick and poorly organized with 4 primitive layers. Associated with enlarged and dysmorphic ventricles and often hypoplasia of the corpus callosum. {ECO:0000269 PubMed:11163258, ECO:0000269 PubMed:11502906, ECO:0000269 PubMed:15007136, ECO:0000269 PubMed:15173193, ECO:0000269 PubMed:9063735}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Miller-Dieker lissencephaly syndrome (MDLS) [MIM:247200]: A contiguous gene deletion syndrome of chromosome 17p13.3, characterized by classical lissencephaly and distinct facial features. Additional congenital malformations can be part of the condition. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Subcortical band heterotopia (SBH) [MIM:607432]: SBH is a mild brain malformation of the lissencephaly spectrum. It is characterized by bilateral and symmetric plates or bands of gray matter found in the central white matter between the cortex and cerebral ventricles, cerebral convolutions usually appearing normal. {ECO:0000269 PubMed:10441340, ECO:0000269 PubMed:14581661}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PAFAH1B1

Genetic Association Database (GAD)
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Human Genome Epidemiology (HuGE) Navigator
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Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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No data available for Genatlas for PAFAH1B1 Gene

Publications for PAFAH1B1 Gene

  1. Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. (PMID: 9063735) Lo Nigro C … Ledbetter DH (Human molecular genetics 1997) 2 3 4 22 60
  2. [Correlation between desmin gene, platelet-activating factor acetylhydrolase gene and dilated cardiomyopathy]. (PMID: 16761416) Wang B … Chen XY (Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition 2006) 3 22 45 60
  3. Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration. (PMID: 15173193) Tanaka T … Gleeson JG (The Journal of cell biology 2004) 3 4 22 60
  4. Platelet-activating factor acetylhydrolase gene polymorphism and its activity in Japanese patients with multiple sclerosis. (PMID: 15081260) Osoegawa M … Kira J (Journal of neuroimmunology 2004) 3 22 45 60
  5. Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. (PMID: 14581661) Sicca F … Guerrini R (Neurology 2003) 3 4 22 60

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