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P43034

- LIS1_HUMAN

UniProt

P43034 - LIS1_HUMAN

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Protein

Platelet-activating factor acetylhydrolase IB subunit alpha

Gene

PAFAH1B1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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.By similarity1 Publication

GO - Molecular functioni

  1. dynactin binding Source: BHF-UCL
  2. dynein binding Source: UniProtKB
  3. heparin binding Source: BHF-UCL
  4. microtubule binding Source: BHF-UCL
  5. phospholipase binding Source: BHF-UCL
  6. phosphoprotein binding Source: BHF-UCL
  7. protein homodimerization activity Source: BHF-UCL

GO - Biological processi

  1. acrosome assembly Source: BHF-UCL
  2. actin cytoskeleton organization Source: BHF-UCL
  3. adult locomotory behavior Source: BHF-UCL
  4. ameboidal cell migration Source: Ensembl
  5. brain morphogenesis Source: BHF-UCL
  6. cerebral cortex development Source: BHF-UCL
  7. cerebral cortex neuron differentiation Source: Ensembl
  8. corpus callosum morphogenesis Source: BHF-UCL
  9. establishment of centrosome localization Source: Ensembl
  10. establishment of mitotic spindle orientation Source: UniProtKB
  11. G2/M transition of mitotic cell cycle Source: Reactome
  12. hippocampus development Source: BHF-UCL
  13. layer formation in cerebral cortex Source: BHF-UCL
  14. learning or memory Source: BHF-UCL
  15. lipid catabolic process Source: UniProtKB-KW
  16. microtubule-based process Source: UniProtKB
  17. microtubule cytoskeleton organization Source: BHF-UCL
  18. microtubule organizing center organization Source: UniProtKB
  19. mitotic cell cycle Source: Reactome
  20. mitotic nuclear division Source: UniProtKB-KW
  21. negative regulation of JNK cascade Source: Ensembl
  22. negative regulation of neuron projection development Source: Ensembl
  23. neuroblast proliferation Source: BHF-UCL
  24. neuromuscular process controlling balance Source: BHF-UCL
  25. neuron migration Source: UniProtKB
  26. nuclear envelope disassembly Source: Ensembl
  27. nuclear migration Source: Ensembl
  28. osteoclast development Source: Ensembl
  29. platelet activating factor metabolic process Source: BHF-UCL
  30. positive regulation of axon extension Source: Ensembl
  31. positive regulation of cytokine-mediated signaling pathway Source: Ensembl
  32. positive regulation of mitotic cell cycle Source: Ensembl
  33. protein secretion Source: Ensembl
  34. regulation of Rho GTPase activity Source: BHF-UCL
  35. retrograde axon cargo transport Source: BHF-UCL
  36. stem cell division Source: Ensembl
  37. synaptic transmission Source: BHF-UCL
  38. transmission of nerve impulse Source: BHF-UCL
  39. vesicle transport along microtubule Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Cell cycle, Cell division, Differentiation, Lipid degradation, Lipid metabolism, Mitosis, Neurogenesis, Transport

Enzyme and pathway databases

ReactomeiREACT_150425. Resolution of Sister Chromatid Cohesion.
REACT_150471. Separation of Sister Chromatids.
REACT_15296. Recruitment of mitotic centrosome proteins and complexes.
REACT_15364. Loss of Nlp from mitotic centrosomes.
REACT_15451. Loss of proteins required for interphase microtubule organization from the centrosome.
REACT_160315. Regulation of PLK1 Activity at G2/M Transition.
REACT_682. Mitotic Prometaphase.
SignaLinkiP43034.

Names & Taxonomyi

Protein namesi
Recommended name:
Platelet-activating factor acetylhydrolase IB subunit alphaUniRule annotation
Alternative 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
Name:PAFAH1B1UniRule annotation
Synonyms:LIS1UniRule annotation, MDCR, MDS, PAFAHA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:8574. PAFAH1B1.

Subcellular locationi

Cytoplasmcytoskeleton. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Cytoplasmcytoskeletonspindle UniRule annotation. 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

GO - Cellular componenti

  1. astral microtubule Source: UniProtKB
  2. cell cortex Source: UniProtKB
  3. cell leading edge Source: Ensembl
  4. centrosome Source: UniProtKB
  5. cytosol Source: BHF-UCL
  6. extracellular vesicular exosome Source: UniProt
  7. growth cone Source: Ensembl
  8. kinesin complex Source: Ensembl
  9. kinetochore Source: UniProtKB
  10. membrane Source: UniProtKB-KW
  11. microtubule associated complex Source: UniProtKB
  12. motile primary cilium Source: BHF-UCL
  13. neuronal cell body Source: Ensembl
  14. nuclear envelope Source: UniProtKB
  15. perinuclear region of cytoplasm Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Membrane, Microtubule, Nucleus

Pathology & Biotechi

Involvement in diseasei

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.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti31 – 311F → S in LIS1. 1 Publication
VAR_015398
Natural varianti149 – 1491H → R in LIS1; abrogates interaction with NDE1 and reduces neuronal migration in vitro. 1 Publication
VAR_007724
Natural varianti162 – 1621G → S in LIS1. 1 Publication
Corresponds to variant rs28936410 [ dbSNP | Ensembl ].
VAR_015399
Natural varianti277 – 2771H → P in LIS1. 1 Publication
VAR_037301
Natural varianti317 – 3171D → H in LIS1; reduces neuronal migration in vitro. 1 Publication
Corresponds to variant rs28936689 [ dbSNP | Ensembl ].
VAR_015400
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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti169 – 1691S → P in SBH; abrogates interaction with NDE1 and reduces neuronal migration in vitro. 1 Publication
VAR_010203
Natural varianti241 – 2411R → P in SBH; somatic mosaicism in 18% of lymphocytes and 21% of hair root cells. 1 Publication
Corresponds to variant rs28936411 [ dbSNP | Ensembl ].
VAR_037300
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.

Keywords - Diseasei

Disease mutation, Lissencephaly

Organism-specific databases

MIMi247200. phenotype.
607432. phenotype.
Orphaneti217385. 17p13.3 microduplication syndrome.
95232. Lissencephaly due to LIS1 mutation.
531. Miller-Dieker syndrome.
99796. Subcortical band heterotopia.
PharmGKBiPA32905.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 410410Platelet-activating factor acetylhydrolase IB subunit alphaPRO_0000051061Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei53 – 531N6-acetyllysine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiP43034.
PaxDbiP43034.
PeptideAtlasiP43034.
PRIDEiP43034.

PTM databases

PhosphoSiteiP43034.

Expressioni

Tissue specificityi

Fairly ubiquitous expression in both the frontal and occipital areas of the brain.

Gene expression databases

BgeeiP43034.
CleanExiHS_PAFAH1B1.
ExpressionAtlasiP43034. baseline and differential.
GenevestigatoriP43034.

Organism-specific databases

HPAiCAB004489.
HPA020036.

Interactioni

Subunit structurei

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.By similarity7 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
Nde1Q9CZA66EBI-720620,EBI-309934From a different organism.

Protein-protein interaction databases

BioGridi111085. 57 interactions.
DIPiDIP-35691N.
IntActiP43034. 12 interactions.
MINTiMINT-5004233.
STRINGi9606.ENSP00000380378.

Structurei

3D structure databases

ProteinModelPortaliP43034.
SMRiP43034. Positions 1-79, 92-408.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini7 – 3933LisHUniRule annotationAdd
BLAST
Repeati106 – 14742WD 1Add
BLAST
Repeati148 – 18740WD 2Add
BLAST
Repeati190 – 22940WD 3Add
BLAST
Repeati232 – 27140WD 4Add
BLAST
Repeati274 – 33360WD 5Add
BLAST
Repeati336 – 37742WD 6Add
BLAST
Repeati378 – 41033WD 7Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 102102Interaction with NDEL1UniRule annotationAdd
BLAST
Regioni1 – 6666Interaction with NDE1UniRule annotationAdd
BLAST
Regioni1 – 3838Required for self-association and interaction with PAFAH1B2 and PAFAH1B3UniRule annotationAdd
BLAST
Regioni83 – 410328Interaction with dynein and dynactinAdd
BLAST
Regioni367 – 40943Interaction with DCXAdd
BLAST
Regioni388 – 41023Interaction with NDEL1UniRule annotationAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili56 – 8227UniRule annotationAdd
BLAST

Domaini

Dimerization mediated by the LisH domain may be required to activate dynein.UniRule annotation

Sequence similaritiesi

Belongs to the WD repeat LIS1/nudF family.UniRule annotation
Contains 1 LisH domain.UniRule annotation
Contains 7 WD repeats.UniRule annotation

Keywords - Domaini

Coiled coil, Repeat, WD repeat

Phylogenomic databases

eggNOGiCOG2319.
GeneTreeiENSGT00760000118869.
HOGENOMiHOG000184015.
HOVERGENiHBG006271.
InParanoidiP43034.
KOiK16794.
OMAiMKTLYAH.
PhylomeDBiP43034.
TreeFamiTF105741.

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
HAMAPiMF_03141. lis1.
InterProiIPR017252. Dynein_regulator_LIS1.
IPR020472. G-protein_beta_WD-40_rep.
IPR006594. LisH_dimerisation.
IPR013720. LisH_dimerisation_subgr.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF08513. LisH. 1 hit.
PF00400. WD40. 7 hits.
[Graphical view]
PIRSFiPIRSF037647. Dynein_regulator_Lis1. 1 hit.
PRINTSiPR00320. GPROTEINBRPT.
SMARTiSM00667. LisH. 1 hit.
SM00320. WD40. 7 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.
PROSITEiPS50896. LISH. 1 hit.
PS00678. WD_REPEATS_1. 4 hits.
PS50082. WD_REPEATS_2. 7 hits.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P43034-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:410
Mass (Da):46,638
Last modified:January 23, 2007 - v2
Checksum:i3AB68D2641BA31C9
GO
Isoform 2 (identifier: P43034-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     12-64: Missing.
     134-170: Missing.
     237-237: V → I
     238-410: Missing.

Note: No experimental confirmation available.

Show »
Length:147
Mass (Da):16,869
Checksum:iB594509D159C7657
GO

Sequence cautioni

The sequence AAA02882.1 differs from that shown. Reason: Chimeric cDNA.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti21 – 211S → P in AAL34972. 1 PublicationCurated
Sequence conflicti21 – 211S → P in AAL34973. 1 PublicationCurated
Sequence conflicti93 – 931E → G in AAL34973. 1 PublicationCurated
Sequence conflicti177 – 1771W → R in AAL34973. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti31 – 311F → S in LIS1. 1 Publication
VAR_015398
Natural varianti149 – 1491H → R in LIS1; abrogates interaction with NDE1 and reduces neuronal migration in vitro. 1 Publication
VAR_007724
Natural varianti162 – 1621G → S in LIS1. 1 Publication
Corresponds to variant rs28936410 [ dbSNP | Ensembl ].
VAR_015399
Natural varianti169 – 1691S → P in SBH; abrogates interaction with NDE1 and reduces neuronal migration in vitro. 1 Publication
VAR_010203
Natural varianti241 – 2411R → P in SBH; somatic mosaicism in 18% of lymphocytes and 21% of hair root cells. 1 Publication
Corresponds to variant rs28936411 [ dbSNP | Ensembl ].
VAR_037300
Natural varianti277 – 2771H → P in LIS1. 1 Publication
VAR_037301
Natural varianti317 – 3171D → H in LIS1; reduces neuronal migration in vitro. 1 Publication
Corresponds to variant rs28936689 [ dbSNP | Ensembl ].
VAR_015400

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei12 – 6453Missing in isoform 2. 1 PublicationVSP_019376Add
BLAST
Alternative sequencei134 – 17037Missing in isoform 2. 1 PublicationVSP_019377Add
BLAST
Alternative sequencei237 – 2371V → I in isoform 2. 1 PublicationVSP_019378
Alternative sequencei238 – 410173Missing in isoform 2. 1 PublicationVSP_019379Add
BLAST

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.
CCDSiCCDS32528.1. [P43034-1]
PIRiS36113.
RefSeqiNP_000421.1. NM_000430.3. [P43034-1]
UniGeneiHs.77318.

Genome annotation databases

EnsembliENST00000397195; ENSP00000380378; ENSG00000007168. [P43034-1]
GeneIDi5048.
KEGGihsa:5048.
UCSCiuc002fuw.4. human. [P43034-1]

Polymorphism databases

DMDMi1170794.

Keywords - Coding sequence diversityi

Alternative splicing

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 ]
UniGenei Hs.77318.

3D structure databases

ProteinModelPortali P43034.
SMRi P43034. Positions 1-79, 92-408.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 111085. 57 interactions.
DIPi DIP-35691N.
IntActi P43034. 12 interactions.
MINTi MINT-5004233.
STRINGi 9606.ENSP00000380378.

PTM databases

PhosphoSitei P43034.

Polymorphism databases

DMDMi 1170794.

Proteomic databases

MaxQBi P43034.
PaxDbi P43034.
PeptideAtlasi P43034.
PRIDEi P43034.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000397195 ; ENSP00000380378 ; ENSG00000007168 . [P43034-1 ]
GeneIDi 5048.
KEGGi hsa:5048.
UCSCi uc002fuw.4. human. [P43034-1 ]

Organism-specific databases

CTDi 5048.
GeneCardsi GC17P002496.
GeneReviewsi PAFAH1B1.
HGNCi HGNC:8574. PAFAH1B1.
HPAi CAB004489.
HPA020036.
MIMi 247200. phenotype.
601545. gene.
607432. phenotype.
neXtProti NX_P43034.
Orphaneti 217385. 17p13.3 microduplication syndrome.
95232. Lissencephaly due to LIS1 mutation.
531. Miller-Dieker syndrome.
99796. Subcortical band heterotopia.
PharmGKBi PA32905.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG2319.
GeneTreei ENSGT00760000118869.
HOGENOMi HOG000184015.
HOVERGENi HBG006271.
InParanoidi P43034.
KOi K16794.
OMAi MKTLYAH.
PhylomeDBi P43034.
TreeFami TF105741.

Enzyme and pathway databases

Reactomei REACT_150425. Resolution of Sister Chromatid Cohesion.
REACT_150471. Separation of Sister Chromatids.
REACT_15296. Recruitment of mitotic centrosome proteins and complexes.
REACT_15364. Loss of Nlp from mitotic centrosomes.
REACT_15451. Loss of proteins required for interphase microtubule organization from the centrosome.
REACT_160315. Regulation of PLK1 Activity at G2/M Transition.
REACT_682. Mitotic Prometaphase.
SignaLinki P43034.

Miscellaneous databases

ChiTaRSi PAFAH1B1. human.
GeneWikii PAFAH1B1.
GenomeRNAii 5048.
NextBioi 19452.
PROi P43034.
SOURCEi Search...

Gene expression databases

Bgeei P43034.
CleanExi HS_PAFAH1B1.
ExpressionAtlasi P43034. baseline and differential.
Genevestigatori P43034.

Family and domain databases

Gene3Di 2.130.10.10. 1 hit.
HAMAPi MF_03141. lis1.
InterProi IPR017252. Dynein_regulator_LIS1.
IPR020472. G-protein_beta_WD-40_rep.
IPR006594. LisH_dimerisation.
IPR013720. LisH_dimerisation_subgr.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view ]
Pfami PF08513. LisH. 1 hit.
PF00400. WD40. 7 hits.
[Graphical view ]
PIRSFi PIRSF037647. Dynein_regulator_Lis1. 1 hit.
PRINTSi PR00320. GPROTEINBRPT.
SMARTi SM00667. LisH. 1 hit.
SM00320. WD40. 7 hits.
[Graphical view ]
SUPFAMi SSF50978. SSF50978. 1 hit.
PROSITEi PS50896. LISH. 1 hit.
PS00678. WD_REPEATS_1. 4 hits.
PS50082. WD_REPEATS_2. 7 hits.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats."
    Reiner O., Carrozzo R., Shen Y., Wehnert M., Faustinella F., Dobyns W.B., Caskey C.T., Ledbetter D.H.
    Nature 364:717-721(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Brain and Kidney.
  2. "Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome."
    Lo Nigro C., Chong S.S., Smith A.C.M., Dobyns W.B., Carrozzo R., Ledbetter D.H.
    Hum. Mol. Genet. 6:157-164(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT LIS1 ARG-149.
  3. "High expression of the lissencephaly gene in hepatocarcinoma patients."
    Zhao M.J., Xia S.L., Li T.P.
    Submitted (NOV-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Liver.
  4. Feng Z., Zhang B., Peng X., Yuan J., Qiang B.
    Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Hippocampus.
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Colon.
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Uterus.
  9. "Interaction between LIS1 and doublecortin, two lissencephaly gene products."
    Caspi M., Atlas R., Kantor A., Sapir T., Reiner O.
    Hum. Mol. Genet. 9:2205-2213(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH DCX.
  10. "LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome."
    Feng Y., Olson E.C., Stukenberg P.T., Flanagan L.A., Kirschner M.W., Walsh C.A.
    Neuron 28:665-679(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH NDE1, CHARACTERIZATION OF VARIANTS LIS1 ARG-149 AND SBH PRO-169.
  11. "Role of dynein, dynactin, and CLIP-170 interactions in LIS1 kinetochore function."
    Tai C.-Y., Dujardin D.L., Faulkner N.E., Vallee R.B.
    J. Cell Biol. 156:959-968(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: SELF-ASSOCIATION, INTERACTION WITH RSN; DYNEIN AND DYNACTIN, SUBCELLULAR LOCATION.
  12. Cited for: SUBCELLULAR LOCATION.
  13. "Human Nudel and NudE as regulators of cytoplasmic dynein in poleward protein transport along the mitotic spindle."
    Yan X., Li F., Liang Y., Shen Y., Zhao X., Huang Q., Zhu X.
    Mol. Cell. Biol. 23:1239-1250(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH NDEL1.
  14. "Nudel functions in membrane traffic mainly through association with Lis1 and cytoplasmic dynein."
    Liang Y., Yu W., Li Y., Yang Z., Yan X., Huang Q., Zhu X.
    J. Cell Biol. 164:557-566(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH NDEL1.
  15. "Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration."
    Tanaka T., Serneo F.F., Higgins C., Gambello M.J., Wynshaw-Boris A., Gleeson J.G.
    J. Cell Biol. 165:709-721(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS LIS1 ARG-149; SBH PRO-169 AND LIS1 HIS-317.
  16. "Disrupted in Schizophrenia 1 and Nudel form a neurodevelopmentally regulated protein complex: implications for schizophrenia and other major neurological disorders."
    Brandon N.J., Handford E.J., Schurov I., Rain J.-C., Pelling M., Duran-Jimeniz B., Camargo L.M., Oliver K.R., Beher D., Shearman M.S., Whiting P.J.
    Mol. Cell. Neurosci. 25:42-55(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH DISC1.
  17. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
    Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
    Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-53, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  18. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  19. "Human Asunder promotes dynein recruitment and centrosomal tethering to the nucleus at mitotic entry."
    Jodoin J.N., Shboul M., Sitaram P., Zein-Sabatto H., Reversade B., Lee E., Lee L.A.
    Mol. Biol. Cell 23:4713-4724(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH ASUN.
  20. "Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1."
    Pilz D.T., Kuc J., Matsumoto N., Bodurtha J., Bernadi B., Tassinari C.A., Dobyns W.B., Ledbetter D.H.
    Hum. Mol. Genet. 8:1757-1760(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SBH PRO-169.
  21. "LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ."
    Leventer R.J., Cardoso C., Ledbetter D.H., Dobyns W.B.
    Neurology 57:416-422(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS LIS1 SER-31; SER-162 AND HIS-317.
  22. "Mosaic mutations of the LIS1 gene cause subcortical band heterotopia."
    Sicca F., Kelemen A., Genton P., Das S., Mei D., Moro F., Dobyns W.B., Guerrini R.
    Neurology 61:1042-1046(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SBH PRO-241.
  23. "Mutation screening in a cohort of patients with lissencephaly and subcortical band heterotopia."
    Torres F.R., Montenegro M.A., Marques-de-Faria A.P., Guerreiro M.M., Cendes F., Lopes-Cendes I.
    Neurology 62:799-802(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LIS1 PRO-277.

Entry informationi

Entry nameiLIS1_HUMAN
AccessioniPrimary (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: October 29, 2014
This is version 155 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3