PAFAH1B1
entrez
5048
canonical
uniprot
P43034
canonical
ensembl
ENSG00000007168
resolver
ensp
ENSP00000380378
resolver
ensp
ENSP00000460258
resolver
ensp
ENSP00000461087
resolver
ensp
ENSP00000501931
resolver
ensp
ENSP00000501976
resolver
ensp
ENSP00000502031
resolver
ensp
ENSP00000502737
resolver
ensp
ENSP00000518994
resolver
ensp
ENSP00000519275
resolver
ensp
ENSP00000533911
resolver
ensp
ENSP00000533912
resolver
enst
ENST00000570400
resolver
enst
ENST00000674608
resolver
enst
ENST00000674717
resolver
enst
ENST00000676353
resolver
enst
ENST00000713690
resolver
enst
ENST00000713984
resolver
enst
ENST00000863852
resolver
genesymbol
PAFAH1B1
resolver
genesymbol_syn
LIS1
resolver
genesymbol_syn
MDCR
resolver
genesymbol_syn
MDS
resolver
genesymbol_syn
PAFAHA
resolver
hgnc
HGNC:8574
resolver
uniprot
A0A6Q8PFT2
resolver
uniprot
A0A6Q8PFU3
resolver
uniprot
B2R7Q7
resolver
uniprot
I3L384
resolver
uniprot
Q8WZ88
resolver
uniprot
Q8WZ89
resolver
uniprot_entry
A0A6Q8PFT2_HUMAN
resolver
uniprot_entry
A0A6Q8PFU3_HUMAN
resolver
uniprot_entry
LIS1_HUMAN
resolver
uniprot_sec
B2R7Q7
resolver
uniprot_sec
I3L384
resolver
uniprot_sec
Q8WZ88
resolver
uniprot_sec
Q8WZ89
resolver
amino_acid_sequence
MVLSQRQRDELNRAIADYLRSNGYEEAYSVFKKEAELDVNEELDKKYAGLLEKKWTSVIRLQKKVMELESKLNEAKEEFTSGGPLGQKRDPKEWIPRPPEKYALSGHRSPVTRVIFHPVFSVMVSASEDATIKVWDYETGDFERTLKGHTDSVQDISFDHSGKLLASCSADMTIKLWDFQGFECIRTMHGHDHNVSSVAIMPNGDHIVSASRDKTIKMWEVQTGYCVKTFTGHREWVRMVRPNQDGTLIASCSNDQTVRVWVVATKECKAELREHEHVVECISWAPESSYSSISEATGSETKKSGKPGPFLLSGSRDKTIKMWDVSTGMCLMTLVGHDNWVRGVLFHSGGKFILSCADDKTLRVWDYKNKRCMKTLNAHEHFVTSLDFHKTAPYVVTGSVDQTVKVWECR
uniprot
proteins
disease_involvement
DISEASE: 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 variants affecting the gene represented in this entry.; DISEASE: 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 variants affecting the gene represented in this entry.; DISEASE: 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 variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Regulatory subunit (beta subunit) of the cytosolic type I platelet-activating factor (PAF) acetylhydrolase (PAF-AH (I)), an enzyme that catalyzes the hydrolyze of the acetyl group at the sn-2 position of PAF and its analogs and participates in PAF inactivation. Regulates the PAF-AH (I) activity in a catalytic dimer composition-dependent manner (By similarity). 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 (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). May modulate the Reelin pathway through interaction of the PAF-AH (I) catalytic dimer with VLDLR (By similarity). {ECO:0000250|UniProtKB:P43033, ECO:0000250|UniProtKB:P63005, ECO:0000269|PubMed:15173193, ECO:0000269|PubMed:22956769}.
uniprot
proteins
mass_dalton
46638
uniprot
proteins
protein_family
WD repeat LIS1/nudF family
uniprot
proteins
pubmed
10441340
uniprot
proteins
pubmed
11001923
uniprot
proteins
pubmed
11163258
uniprot
proteins
pubmed
11502906
uniprot
proteins
pubmed
11889140
uniprot
proteins
pubmed
11940666
uniprot
proteins
pubmed
12556484
uniprot
proteins
pubmed
14581661
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14962739
uniprot
proteins
pubmed
14970193
uniprot
proteins
pubmed
15007136
uniprot
proteins
pubmed
15173193
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22159412
uniprot
proteins
pubmed
22956769
uniprot
proteins
pubmed
23097494
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
8355785
uniprot
proteins
pubmed
9063735
uniprot
proteins
sequence_length
410
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843}. Cytoplasm, cytoskeleton, spindle {ECO:0000255|HAMAP-Rule:MF_03141}. Nucleus membrane {ECO:0000255|HAMAP-Rule:MF_03141}. 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}.
uniprot
proteins