UniProtKB - P43034 (LIS1_HUMAN)
Platelet-activating factor acetylhydrolase IB subunit beta
PAFAH1B1
Functioni
Miscellaneous
GO - Molecular functioni
- dynactin binding Source: BHF-UCL
- dynein complex binding Source: UniProtKB
- heparin binding Source: BHF-UCL
- identical protein binding Source: BHF-UCL
- microtubule binding Source: BHF-UCL
- microtubule plus-end binding Source: GO_Central
- phospholipase binding Source: BHF-UCL
- phosphoprotein binding Source: BHF-UCL
- protein heterodimerization activity Source: UniProtKB
GO - Biological processi
- acrosome assembly Source: BHF-UCL
- actin cytoskeleton organization Source: BHF-UCL
- adult locomotory behavior Source: BHF-UCL
- brain morphogenesis Source: BHF-UCL
- cell division Source: UniProtKB-KW
- cerebral cortex development Source: BHF-UCL
- chemical synaptic transmission Source: BHF-UCL
- ciliary basal body-plasma membrane docking Source: Reactome
- corpus callosum morphogenesis Source: BHF-UCL
- establishment of mitotic spindle orientation Source: UniProtKB
- G2/M transition of mitotic cell cycle Source: Reactome
- germ cell development Source: GO_Central
- hippocampus development Source: BHF-UCL
- layer formation in cerebral cortex Source: BHF-UCL
- learning or memory Source: BHF-UCL
- lipid catabolic process Source: UniProtKB-KW
- microtubule-based process Source: UniProtKB
- microtubule cytoskeleton organization Source: BHF-UCL
- microtubule organizing center organization Source: UniProtKB
- microtubule sliding Source: UniProtKB-UniRule
- mitotic spindle organization Source: Reactome
- neuroblast proliferation Source: BHF-UCL
- neuromuscular process controlling balance Source: BHF-UCL
- neuron migration Source: UniProtKB
- nuclear migration Source: GO_Central
- platelet activating factor metabolic process Source: BHF-UCL
- reelin-mediated signaling pathway Source: UniProtKB
- regulation of G2/M transition of mitotic cell cycle Source: Reactome
- regulation of microtubule motor activity Source: GO_Central
- retrograde axonal transport Source: BHF-UCL
- transmission of nerve impulse Source: BHF-UCL
- vesicle transport along microtubule Source: BHF-UCL
Keywordsi
Molecular function | Developmental protein |
Biological process | Cell cycle, Cell division, Differentiation, Lipid degradation, Lipid metabolism, Mitosis, Neurogenesis, Transport |
Enzyme and pathway databases
PathwayCommonsi | P43034 |
Reactomei | R-HSA-141444, Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal R-HSA-2467813, Separation of Sister Chromatids R-HSA-2500257, Resolution of Sister Chromatid Cohesion R-HSA-2565942, Regulation of PLK1 Activity at G2/M Transition R-HSA-380259, Loss of Nlp from mitotic centrosomes R-HSA-380270, Recruitment of mitotic centrosome proteins and complexes R-HSA-380284, Loss of proteins required for interphase microtubule organization from the centrosome R-HSA-380320, Recruitment of NuMA to mitotic centrosomes R-HSA-5620912, Anchoring of the basal body to the plasma membrane R-HSA-5663220, RHO GTPases Activate Formins R-HSA-6811436, COPI-independent Golgi-to-ER retrograde traffic R-HSA-68877, Mitotic Prometaphase R-HSA-8854518, AURKA Activation by TPX2 R-HSA-9648025, EML4 and NUDC in mitotic spindle formation |
SignaLinki | P43034 |
SIGNORi | P43034 |
Names & Taxonomyi
Protein namesi | Recommended name: Platelet-activating factor acetylhydrolase IB subunit betaUniRule annotationCuratedAlternative name(s): Lissencephaly-1 proteinUniRule annotation Short name: LIS-1UniRule annotation PAF acetylhydrolase 45 kDa subunitUniRule annotation Short name: PAF-AH 45 kDa subunitUniRule annotation PAF-AH alphaUniRule annotation Short name: PAFAH alphaUniRule annotation |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:8574, PAFAH1B1 |
MIMi | 601545, gene |
neXtProti | NX_P43034 |
VEuPathDBi | HostDB:ENSG00000007168.12 |
Subcellular locationi
Cytoskeleton
- cytoskeleton
- centrosome 1 Publication
- spindle UniRule annotation
Nucleus
- Nucleus membrane UniRule annotation
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.By similarity
Cytoskeleton
- astral microtubule Source: UniProtKB
- centrosome Source: UniProtKB
- cytoplasmic microtubule Source: GO_Central
- microtubule associated complex Source: UniProtKB
Cytosol
- cytosol Source: BHF-UCL
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Nucleus
- nuclear envelope Source: UniProtKB
- nuclear membrane Source: UniProtKB-SubCell
Other locations
- 1-alkyl-2-acetylglycerophosphocholine esterase complex Source: UniProtKB
- axon cytoplasm Source: GOC
- cell cortex Source: UniProtKB
- kinetochore Source: UniProtKB
- motile cilium Source: BHF-UCL
- neuron projection Source: GO_Central
- neuronal cell body Source: GO_Central
- perinuclear region of cytoplasm Source: BHF-UCL
- synapse Source: GOC
Keywords - Cellular componenti
Cytoplasm, Cytoskeleton, Membrane, Microtubule, NucleusPathology & Biotechi
Involvement in diseasei
Lissencephaly 1 (LIS1)5 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_015398 | 31 | F → S in LIS1. 1 PublicationCorresponds to variant dbSNP:rs121434486EnsemblClinVar. | 1 | |
Natural variantiVAR_007724 | 149 | H → R in LIS1; abrogates interaction with NDE1 and reduces neuronal migration in vitro. 3 PublicationsCorresponds to variant dbSNP:rs121434482EnsemblClinVar. | 1 | |
Natural variantiVAR_015399 | 162 | G → S in LIS1. 1 PublicationCorresponds to variant dbSNP:rs121434487EnsemblClinVar. | 1 | |
Natural variantiVAR_037301 | 277 | H → P in LIS1. 1 PublicationCorresponds to variant dbSNP:rs121434490EnsemblClinVar. | 1 | |
Natural variantiVAR_015400 | 317 | D → H in LIS1; reduces neuronal migration in vitro. 2 PublicationsCorresponds to variant dbSNP:rs121434485EnsemblClinVar. | 1 |
Subcortical band heterotopia (SBH)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_010203 | 169 | S → P in SBH; abrogates interaction with NDE1 and reduces neuronal migration in vitro. 3 PublicationsCorresponds to variant dbSNP:rs121434484EnsemblClinVar. | 1 | |
Natural variantiVAR_037300 | 241 | R → P in SBH; somatic mosaicism in 18% of lymphocytes and 21% of hair root cells. 1 PublicationCorresponds to variant dbSNP:rs121434488EnsemblClinVar. | 1 |
Miller-Dieker lissencephaly syndrome (MDLS)
Keywords - Diseasei
Disease variant, LissencephalyOrganism-specific databases
DisGeNETi | 5048 |
GeneReviewsi | PAFAH1B1 |
MalaCardsi | PAFAH1B1 |
MIMi | 247200, phenotype 607432, phenotype |
OpenTargetsi | ENSG00000007168 |
Orphaneti | 217385, 17p13.3 microduplication syndrome 95232, Lissencephaly due to LIS1 mutation 531, Miller-Dieker syndrome 99796, Subcortical band heterotopia |
PharmGKBi | PA32905 |
Miscellaneous databases
Pharosi | P43034, Tbio |
Genetic variation databases
BioMutai | PAFAH1B1 |
DMDMi | 1170794 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000051061 | 1 – 410 | Platelet-activating factor acetylhydrolase IB subunit betaAdd BLAST | 410 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 53 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 109 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
CPTACi | CPTAC-103 CPTAC-104 |
EPDi | P43034 |
jPOSTi | P43034 |
MassIVEi | P43034 |
MaxQBi | P43034 |
PaxDbi | P43034 |
PeptideAtlasi | P43034 |
PRIDEi | P43034 |
ProteomicsDBi | 55575 [P43034-1] 55576 [P43034-2] |
PTM databases
iPTMneti | P43034 |
MetOSitei | P43034 |
PhosphoSitePlusi | P43034 |
SwissPalmi | P43034 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000007168, Expressed in testis and 246 other tissues |
ExpressionAtlasi | P43034, baseline and differential |
Genevisiblei | P43034, HS |
Organism-specific databases
HPAi | ENSG00000007168, Low tissue specificity |
Interactioni
Subunit structurei
Component of the cytosolic PAF-AH (I) heterotetrameric enzyme, which is composed of PAFAH1B1 (beta), PAFAH1B2 (alpha2) and PAFAH1B3 (alpha1) subunits. The catalytic activity of the enzyme resides in the alpha1 (PAFAH1B3) and alpha2 (PAFAH1B2) subunits, whereas the beta subunit (PAFAH1B1) has regulatory activity. Trimer formation is not essential for the catalytic activity.
Interacts with the catalytic dimer of PAF-AH (I) heterotetrameric enzyme: interacts with PAFAH1B2 homodimer (alpha2/alpha2 homodimer), PAFAH1B3 homodimer (alpha1/alpha1 homodimer) and PAFAH1B2-PAFAH1B3 heterodimer (alpha2/alpha1 heterodimer) (By similarity).
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 INTS13.
Interacts with DCDC1 (PubMed:22159412).
By similarity8 PublicationsBinary interactionsi
Hide detailsP43034
GO - Molecular functioni
- dynactin binding Source: BHF-UCL
- identical protein binding Source: BHF-UCL
- microtubule binding Source: BHF-UCL
- microtubule plus-end binding Source: GO_Central
- phospholipase binding Source: BHF-UCL
- phosphoprotein binding Source: BHF-UCL
- protein heterodimerization activity Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 111085, 128 interactors |
DIPi | DIP-35691N |
IntActi | P43034, 41 interactors |
MINTi | P43034 |
STRINGi | 9606.ENSP00000380378 |
Miscellaneous databases
RNActi | P43034, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 7 – 39 | LisHUniRule annotationAdd BLAST | 33 | |
Repeati | 106 – 147 | WD 1Add BLAST | 42 | |
Repeati | 148 – 187 | WD 2Add BLAST | 40 | |
Repeati | 190 – 229 | WD 3Add BLAST | 40 | |
Repeati | 232 – 271 | WD 4Add BLAST | 40 | |
Repeati | 274 – 333 | WD 5Add BLAST | 60 | |
Repeati | 336 – 377 | WD 6Add BLAST | 42 | |
Repeati | 378 – 410 | WD 7Add BLAST | 33 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 102 | Interaction with NDEL1UniRule annotationAdd BLAST | 102 | |
Regioni | 1 – 66 | Interaction with NDE1UniRule annotationAdd BLAST | 66 | |
Regioni | 1 – 38 | Required for self-association and interaction with PAFAH1B2 and PAFAH1B3UniRule annotationAdd BLAST | 38 | |
Regioni | 83 – 410 | Interaction with dynein and dynactinAdd BLAST | 328 | |
Regioni | 367 – 409 | Interaction with DCX1 PublicationAdd BLAST | 43 | |
Regioni | 388 – 410 | Interaction with NDEL1UniRule annotationAdd BLAST | 23 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 56 – 82 | UniRule annotationAdd BLAST | 27 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Coiled coil, Repeat, WD repeatPhylogenomic databases
eggNOGi | KOG0295, Eukaryota |
GeneTreei | ENSGT00940000155039 |
InParanoidi | P43034 |
OMAi | DAHGHFV |
PhylomeDBi | P43034 |
TreeFami | TF105741 |
Family and domain databases
Gene3Di | 2.130.10.10, 1 hit |
HAMAPi | MF_03141, lis1, 1 hit |
InterProi | View protein in InterPro IPR017252, Dynein_regulator_LIS1 IPR020472, G-protein_beta_WD-40_rep IPR037190, LIS1_N IPR006594, LisH IPR015943, WD40/YVTN_repeat-like_dom_sf IPR001680, WD40_repeat IPR019775, WD40_repeat_CS IPR017986, WD40_repeat_dom IPR036322, WD40_repeat_dom_sf |
Pfami | View protein in Pfam PF08513, LisH, 1 hit PF00400, WD40, 7 hits |
PIRSFi | PIRSF037647, Dynein_regulator_Lis1, 1 hit |
PRINTSi | PR00320, GPROTEINBRPT |
SMARTi | View protein in SMART SM00667, LisH, 1 hit SM00320, WD40, 7 hits |
SUPFAMi | SSF109925, SSF109925, 1 hit SSF50978, SSF50978, 1 hit |
PROSITEi | View protein in PROSITE PS50896, LISH, 1 hit PS00678, WD_REPEATS_1, 4 hits PS50082, WD_REPEATS_2, 7 hits PS50294, WD_REPEATS_REGION, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MVLSQRQRDE LNRAIADYLR SNGYEEAYSV FKKEAELDVN EELDKKYAGL
60 70 80 90 100
LEKKWTSVIR LQKKVMELES KLNEAKEEFT SGGPLGQKRD PKEWIPRPPE
110 120 130 140 150
KYALSGHRSP VTRVIFHPVF SVMVSASEDA TIKVWDYETG DFERTLKGHT
160 170 180 190 200
DSVQDISFDH SGKLLASCSA DMTIKLWDFQ GFECIRTMHG HDHNVSSVAI
210 220 230 240 250
MPNGDHIVSA SRDKTIKMWE VQTGYCVKTF TGHREWVRMV RPNQDGTLIA
260 270 280 290 300
SCSNDQTVRV WVVATKECKA ELREHEHVVE CISWAPESSY SSISEATGSE
310 320 330 340 350
TKKSGKPGPF LLSGSRDKTI KMWDVSTGMC LMTLVGHDNW VRGVLFHSGG
360 370 380 390 400
KFILSCADDK TLRVWDYKNK RCMKTLNAHE HFVTSLDFHK TAPYVVTGSV
410
DQTVKVWECR
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A6Q8PFU3 | A0A6Q8PFU3_HUMAN | Platelet-activating factor acetylhy... | PAFAH1B1 LIS1 | 428 | Annotation score: | ||
A0A6Q8PG63 | A0A6Q8PG63_HUMAN | Platelet-activating factor acetylhy... | PAFAH1B1 | 346 | Annotation score: | ||
A0A6Q8PFT2 | A0A6Q8PFT2_HUMAN | Platelet-activating factor acetylhy... | PAFAH1B1 | 345 | Annotation score: | ||
I3L495 | I3L495_HUMAN | Platelet-activating factor acetylhy... | PAFAH1B1 | 82 | Annotation score: | ||
A0A6Q8PH33 | A0A6Q8PH33_HUMAN | Platelet-activating factor acetylhy... | PAFAH1B1 | 127 | Annotation score: | ||
I3L3N5 | I3L3N5_HUMAN | Platelet-activating factor acetylhy... | PAFAH1B1 | 208 | Annotation score: | ||
I3L384 | I3L384_HUMAN | Platelet-activating factor acetylhy... | PAFAH1B1 | 14 | Annotation score: | ||
A0A6Q8PGF8 | A0A6Q8PGF8_HUMAN | Platelet-activating factor acetylhy... | PAFAH1B1 | 47 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 21 | S → P in AAL34972 (Ref. 3) Curated | 1 | |
Sequence conflicti | 21 | S → P in AAL34973 (Ref. 3) Curated | 1 | |
Sequence conflicti | 93 | E → G in AAL34973 (Ref. 3) Curated | 1 | |
Sequence conflicti | 177 | W → R in AAL34973 (Ref. 3) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_015398 | 31 | F → S in LIS1. 1 PublicationCorresponds to variant dbSNP:rs121434486EnsemblClinVar. | 1 | |
Natural variantiVAR_007724 | 149 | H → R in LIS1; abrogates interaction with NDE1 and reduces neuronal migration in vitro. 3 PublicationsCorresponds to variant dbSNP:rs121434482EnsemblClinVar. | 1 | |
Natural variantiVAR_015399 | 162 | G → S in LIS1. 1 PublicationCorresponds to variant dbSNP:rs121434487EnsemblClinVar. | 1 | |
Natural variantiVAR_010203 | 169 | S → P in SBH; abrogates interaction with NDE1 and reduces neuronal migration in vitro. 3 PublicationsCorresponds to variant dbSNP:rs121434484EnsemblClinVar. | 1 | |
Natural variantiVAR_037300 | 241 | R → P in SBH; somatic mosaicism in 18% of lymphocytes and 21% of hair root cells. 1 PublicationCorresponds to variant dbSNP:rs121434488EnsemblClinVar. | 1 | |
Natural variantiVAR_037301 | 277 | H → P in LIS1. 1 PublicationCorresponds to variant dbSNP:rs121434490EnsemblClinVar. | 1 | |
Natural variantiVAR_015400 | 317 | D → H in LIS1; reduces neuronal migration in vitro. 2 PublicationsCorresponds to variant dbSNP:rs121434485EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_019376 | 12 – 64 | Missing in isoform 2. 1 PublicationAdd BLAST | 53 | |
Alternative sequenceiVSP_019377 | 134 – 170 | Missing in isoform 2. 1 PublicationAdd BLAST | 37 | |
Alternative sequenceiVSP_019378 | 237 | V → I in isoform 2. 1 Publication | 1 | |
Alternative sequenceiVSP_019379 | 238 – 410 | Missing in isoform 2. 1 PublicationAdd BLAST | 173 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | L13385 mRNA Translation: AAA02880.1 L13386 mRNA Translation: AAA02881.1 L13387 mRNA Translation: AAA02882.1 Sequence problems. U72342 , U72334, U72335, U72336, U72337, U72338, U72339, U72340, U72341 Genomic DNA Translation: AAC51111.1 AF208837 mRNA Translation: AAL34972.1 AF208838 mRNA Translation: AAL34973.1 AF400434 mRNA Translation: AAK92483.1 AK313078 mRNA Translation: BAG35904.1 BX538346 mRNA Translation: CAD98141.1 CH471108 Genomic DNA Translation: EAW90536.1 BC064638 mRNA Translation: AAH64638.1 |
CCDSi | CCDS32528.1 [P43034-1] |
PIRi | S36113 |
RefSeqi | NP_000421.1, NM_000430.3 [P43034-1] XP_016880188.1, XM_017024699.1 XP_016880189.1, XM_017024700.1 XP_016880190.1, XM_017024701.1 [P43034-1] |
Genome annotation databases
Ensembli | ENST00000397195; ENSP00000380378; ENSG00000007168 [P43034-1] ENST00000675202; ENSP00000502843; ENSG00000007168 [P43034-1] ENST00000675331; ENSP00000502031; ENSG00000007168 [P43034-1] ENST00000675390; ENSP00000501969; ENSG00000007168 [P43034-1] ENST00000676098; ENSP00000502735; ENSG00000007168 [P43034-1] ENST00000676188; ENSP00000502577; ENSG00000007168 [P43034-1] |
GeneIDi | 5048 |
KEGGi | hsa:5048 |
UCSCi | uc002fuw.5, human [P43034-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | L13385 mRNA Translation: AAA02880.1 L13386 mRNA Translation: AAA02881.1 L13387 mRNA Translation: AAA02882.1 Sequence problems. U72342 , U72334, U72335, U72336, U72337, U72338, U72339, U72340, U72341 Genomic DNA Translation: AAC51111.1 AF208837 mRNA Translation: AAL34972.1 AF208838 mRNA Translation: AAL34973.1 AF400434 mRNA Translation: AAK92483.1 AK313078 mRNA Translation: BAG35904.1 BX538346 mRNA Translation: CAD98141.1 CH471108 Genomic DNA Translation: EAW90536.1 BC064638 mRNA Translation: AAH64638.1 |
CCDSi | CCDS32528.1 [P43034-1] |
PIRi | S36113 |
RefSeqi | NP_000421.1, NM_000430.3 [P43034-1] XP_016880188.1, XM_017024699.1 XP_016880189.1, XM_017024700.1 XP_016880190.1, XM_017024701.1 [P43034-1] |
3D structure databases
SMRi | P43034 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 111085, 128 interactors |
DIPi | DIP-35691N |
IntActi | P43034, 41 interactors |
MINTi | P43034 |
STRINGi | 9606.ENSP00000380378 |
PTM databases
iPTMneti | P43034 |
MetOSitei | P43034 |
PhosphoSitePlusi | P43034 |
SwissPalmi | P43034 |
Genetic variation databases
BioMutai | PAFAH1B1 |
DMDMi | 1170794 |
Proteomic databases
CPTACi | CPTAC-103 CPTAC-104 |
EPDi | P43034 |
jPOSTi | P43034 |
MassIVEi | P43034 |
MaxQBi | P43034 |
PaxDbi | P43034 |
PeptideAtlasi | P43034 |
PRIDEi | P43034 |
ProteomicsDBi | 55575 [P43034-1] 55576 [P43034-2] |
Protocols and materials databases
Antibodypediai | 3850, 303 antibodies |
Genome annotation databases
Ensembli | ENST00000397195; ENSP00000380378; ENSG00000007168 [P43034-1] ENST00000675202; ENSP00000502843; ENSG00000007168 [P43034-1] ENST00000675331; ENSP00000502031; ENSG00000007168 [P43034-1] ENST00000675390; ENSP00000501969; ENSG00000007168 [P43034-1] ENST00000676098; ENSP00000502735; ENSG00000007168 [P43034-1] ENST00000676188; ENSP00000502577; ENSG00000007168 [P43034-1] |
GeneIDi | 5048 |
KEGGi | hsa:5048 |
UCSCi | uc002fuw.5, human [P43034-1] |
Organism-specific databases
CTDi | 5048 |
DisGeNETi | 5048 |
GeneCardsi | PAFAH1B1 |
GeneReviewsi | PAFAH1B1 |
HGNCi | HGNC:8574, PAFAH1B1 |
HPAi | ENSG00000007168, Low tissue specificity |
MalaCardsi | PAFAH1B1 |
MIMi | 247200, phenotype 601545, gene 607432, phenotype |
neXtProti | NX_P43034 |
OpenTargetsi | ENSG00000007168 |
Orphaneti | 217385, 17p13.3 microduplication syndrome 95232, Lissencephaly due to LIS1 mutation 531, Miller-Dieker syndrome 99796, Subcortical band heterotopia |
PharmGKBi | PA32905 |
VEuPathDBi | HostDB:ENSG00000007168.12 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0295, Eukaryota |
GeneTreei | ENSGT00940000155039 |
InParanoidi | P43034 |
OMAi | DAHGHFV |
PhylomeDBi | P43034 |
TreeFami | TF105741 |
Enzyme and pathway databases
PathwayCommonsi | P43034 |
Reactomei | R-HSA-141444, Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal R-HSA-2467813, Separation of Sister Chromatids R-HSA-2500257, Resolution of Sister Chromatid Cohesion R-HSA-2565942, Regulation of PLK1 Activity at G2/M Transition R-HSA-380259, Loss of Nlp from mitotic centrosomes R-HSA-380270, Recruitment of mitotic centrosome proteins and complexes R-HSA-380284, Loss of proteins required for interphase microtubule organization from the centrosome R-HSA-380320, Recruitment of NuMA to mitotic centrosomes R-HSA-5620912, Anchoring of the basal body to the plasma membrane R-HSA-5663220, RHO GTPases Activate Formins R-HSA-6811436, COPI-independent Golgi-to-ER retrograde traffic R-HSA-68877, Mitotic Prometaphase R-HSA-8854518, AURKA Activation by TPX2 R-HSA-9648025, EML4 and NUDC in mitotic spindle formation |
SignaLinki | P43034 |
SIGNORi | P43034 |
Miscellaneous databases
BioGRID-ORCSi | 5048, 743 hits in 1001 CRISPR screens |
ChiTaRSi | PAFAH1B1, human |
GeneWikii | PAFAH1B1 |
GenomeRNAii | 5048 |
Pharosi | P43034, Tbio |
PROi | PR:P43034 |
RNActi | P43034, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000007168, Expressed in testis and 246 other tissues |
ExpressionAtlasi | P43034, baseline and differential |
Genevisiblei | P43034, HS |
Family and domain databases
Gene3Di | 2.130.10.10, 1 hit |
HAMAPi | MF_03141, lis1, 1 hit |
InterProi | View protein in InterPro IPR017252, Dynein_regulator_LIS1 IPR020472, G-protein_beta_WD-40_rep IPR037190, LIS1_N IPR006594, LisH IPR015943, WD40/YVTN_repeat-like_dom_sf IPR001680, WD40_repeat IPR019775, WD40_repeat_CS IPR017986, WD40_repeat_dom IPR036322, WD40_repeat_dom_sf |
Pfami | View protein in Pfam PF08513, LisH, 1 hit PF00400, WD40, 7 hits |
PIRSFi | PIRSF037647, Dynein_regulator_Lis1, 1 hit |
PRINTSi | PR00320, GPROTEINBRPT |
SMARTi | View protein in SMART SM00667, LisH, 1 hit SM00320, WD40, 7 hits |
SUPFAMi | SSF109925, SSF109925, 1 hit SSF50978, SSF50978, 1 hit |
PROSITEi | View protein in PROSITE PS50896, LISH, 1 hit PS00678, WD_REPEATS_1, 4 hits PS50082, WD_REPEATS_2, 7 hits PS50294, WD_REPEATS_REGION, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | LIS1_HUMAN | |
Accessioni | P43034Primary (citable) accession number: P43034 Secondary accession number(s): B2R7Q7, Q8WZ88, Q8WZ89 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1995 |
Last sequence update: | January 23, 2007 | |
Last modified: | April 7, 2021 | |
This is version 213 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families