PAFAH1B1 | ENSG00000007168 | NCBI 5048

Details for: PAFAH1B1

Gene ID: 5048

Symbol: PAFAH1B1

Ensembl ID: ENSG00000007168

Description: platelet activating factor acetylhydrolase 1b regulatory subunit 1

Associated with

Amplification of signal from the kinetochores
(R-HSA-141424)
Amplification of signal from unattached kinetochores via a mad2 inhibitory signal
(R-HSA-141444)
Anchoring of the basal body to the plasma membrane
(R-HSA-5620912)
Aurka activation by tpx2
(R-HSA-8854518)
Cell cycle
(R-HSA-1640170)
Cell cycle, mitotic
(R-HSA-69278)
Cell cycle checkpoints
(R-HSA-69620)
Centrosome maturation
(R-HSA-380287)
Cilium assembly
(R-HSA-5617833)
Copi-independent golgi-to-er retrograde traffic
(R-HSA-6811436)
Eml4 and nudc in mitotic spindle formation
(R-HSA-9648025)
G2/m transition
(R-HSA-69275)
Golgi-to-er retrograde transport
(R-HSA-8856688)
Intra-golgi and retrograde golgi-to-er traffic
(R-HSA-6811442)
Loss of nlp from mitotic centrosomes
(R-HSA-380259)
Loss of proteins required for interphase microtubule organization from the centrosome
(R-HSA-380284)
Membrane trafficking
(R-HSA-199991)
Mitotic anaphase
(R-HSA-68882)
Mitotic g2-g2/m phases
(R-HSA-453274)
Mitotic metaphase and anaphase
(R-HSA-2555396)
Mitotic prometaphase
(R-HSA-68877)
Mitotic spindle checkpoint
(R-HSA-69618)
M phase
(R-HSA-68886)
Organelle biogenesis and maintenance
(R-HSA-1852241)
Recruitment of mitotic centrosome proteins and complexes
(R-HSA-380270)
Recruitment of numa to mitotic centrosomes
(R-HSA-380320)
Regulation of plk1 activity at g2/m transition
(R-HSA-2565942)
Resolution of sister chromatid cohesion
(R-HSA-2500257)
Rho gtpase effectors
(R-HSA-195258)
Rho gtpases activate formins
(R-HSA-5663220)
Separation of sister chromatids
(R-HSA-2467813)
Signaling by rho gtpases
(R-HSA-194315)
Signaling by rho gtpases, miro gtpases and rhobtb3
(R-HSA-9716542)
Signal transduction
(R-HSA-162582)
Vesicle-mediated transport
(R-HSA-5653656)
Acrosome assembly
(GO:0001675)
Actin cytoskeleton organization
(GO:0030036)
Adult locomotory behavior
(GO:0008344)
Ameboidal-type cell migration
(GO:0001667)
Auditory receptor cell development
(GO:0060117)
Brain morphogenesis
(GO:0048854)
Cerebral cortex development
(GO:0021987)
Cerebral cortex neuron differentiation
(GO:0021895)
Chemical synaptic transmission
(GO:0007268)
Corpus callosum morphogenesis
(GO:0021540)
Cortical microtubule organization
(GO:0043622)
Dynactin binding
(GO:0034452)
Dynein complex binding
(GO:0070840)
Dynein intermediate chain binding
(GO:0045505)
Establishment of centrosome localization
(GO:0051660)
Establishment of mitotic spindle orientation
(GO:0000132)
Establishment of planar polarity of embryonic epithelium
(GO:0042249)
Germ cell development
(GO:0007281)
Heparin binding
(GO:0008201)
Hippocampus development
(GO:0021766)
Identical protein binding
(GO:0042802)
Jnk cascade
(GO:0007254)
Layer formation in cerebral cortex
(GO:0021819)
Learning or memory
(GO:0007611)
Lipid catabolic process
(GO:0016042)
Maintenance of centrosome location
(GO:0051661)
Microtubule-based process
(GO:0007017)
Microtubule binding
(GO:0008017)
Microtubule cytoskeleton organization
(GO:0000226)
Microtubule organizing center organization
(GO:0031023)
Microtubule plus-end binding
(GO:0051010)
Microtubule sliding
(GO:0051012)
Modulation of chemical synaptic transmission
(GO:0050804)
Negative regulation of jnk cascade
(GO:0046329)
Negative regulation of neuron projection development
(GO:0010977)
Neuroblast proliferation
(GO:0007405)
Neuromuscular process controlling balance
(GO:0050885)
Neuron migration
(GO:0001764)
Nuclear membrane disassembly
(GO:0051081)
Nuclear migration
(GO:0007097)
Osteoclast development
(GO:0036035)
Phospholipase binding
(GO:0043274)
Phosphoprotein binding
(GO:0051219)
Platelet activating factor metabolic process
(GO:0046469)
Positive regulation of axon extension
(GO:0045773)
Positive regulation of cytokine-mediated signaling pathway
(GO:0001961)
Positive regulation of dendritic spine morphogenesis
(GO:0061003)
Positive regulation of embryonic development
(GO:0040019)
Positive regulation of mitotic cell cycle
(GO:0045931)
Protein binding
(GO:0005515)
Protein heterodimerization activity
(GO:0046982)
Protein secretion
(GO:0009306)
Reelin-mediated signaling pathway
(GO:0038026)
Regulation of microtubule cytoskeleton organization
(GO:0070507)
Retrograde axonal transport
(GO:0008090)
Stem cell division
(GO:0017145)
Transmission of nerve impulse
(GO:0019226)
Vesicle transport along microtubule
(GO:0047496)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: polychromatophilic erythroblast (CL0000550)
Fold Change: 650.7432
Cell Significance Index: -101.2200
Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
Fold Change: 400.2371
Cell Significance Index: -101.5200
Cell Name: embryonic stem cell (CL0002322)
Fold Change: 248.7452
Cell Significance Index: -102.4700
Cell Name: smooth muscle fiber of ileum (CL1000278)
Fold Change: 225.1110
Cell Significance Index: -106.2800
Cell Name: peripheral blood mononuclear cell (CL2000001)
Fold Change: 191.1797
Cell Significance Index: -98.3400
Cell Name: ileal goblet cell (CL1000326)
Fold Change: 158.5343
Cell Significance Index: -106.3800
Cell Name: ciliated cell of the bronchus (CL0002332)
Fold Change: 89.7938
Cell Significance Index: -85.7300
Cell Name: orthochromatic erythroblast (CL0000552)
Fold Change: 85.0233
Cell Significance Index: -104.8300
Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
Fold Change: 34.9477
Cell Significance Index: -93.6200
Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
Fold Change: 30.6142
Cell Significance Index: -94.0300
Cell Name: stromal cell of bone marrow (CL0010001)
Fold Change: 26.9409
Cell Significance Index: -106.3100
Cell Name: epidermal Langerhans cell (CL0002457)
Fold Change: 20.9313
Cell Significance Index: -45.8100
Cell Name: GABAergic amacrine cell (CL4030027)
Fold Change: 3.4479
Cell Significance Index: 42.7700
Cell Name: forebrain neuroblast (CL1000042)
Fold Change: 3.3435
Cell Significance Index: 205.5100
Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 2.8115
Cell Significance Index: 563.9900
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 2.8101
Cell Significance Index: 215.6500
Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: 2.6727
Cell Significance Index: 68.7000
Cell Name: cortical interneuron (CL0008031)
Fold Change: 2.5884
Cell Significance Index: 62.0800
Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 2.5587
Cell Significance Index: 917.7600
Cell Name: retinal progenitor cell (CL0002672)
Fold Change: 2.4603
Cell Significance Index: 138.0600
Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: 2.3713
Cell Significance Index: 66.2700
Cell Name: GABAergic interneuron (CL0011005)
Fold Change: 2.0551
Cell Significance Index: 1421.4100
Cell Name: neoplastic cell (CL0001063)
Fold Change: 1.9582
Cell Significance Index: 388.6100
Cell Name: hippocampal granule cell (CL0001033)
Fold Change: 1.3888
Cell Significance Index: 93.3900
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 1.3851
Cell Significance Index: 150.6600
Cell Name: preadipocyte (CL0002334)
Fold Change: 1.3286
Cell Significance Index: 25.9300
Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: 1.2400
Cell Significance Index: 54.8500
Cell Name: placental villous trophoblast (CL2000060)
Fold Change: 1.1217
Cell Significance Index: 29.9500
Cell Name: basal cell of urothelium (CL1000486)
Fold Change: 1.0715
Cell Significance Index: 131.7500
Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: 1.0233
Cell Significance Index: 38.7500
Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: 1.0000
Cell Significance Index: 180.2600
Cell Name: lung endothelial cell (CL1001567)
Fold Change: 0.8787
Cell Significance Index: 45.7700
Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: 0.7898
Cell Significance Index: 17.1100
Cell Name: cell in vitro (CL0001034)
Fold Change: 0.7777
Cell Significance Index: 424.7000
Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 0.7621
Cell Significance Index: 104.6600
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.7395
Cell Significance Index: 21.3100
Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: 0.5980
Cell Significance Index: 70.5200
Cell Name: leptomeningeal cell (CL0000708)
Fold Change: 0.5972
Cell Significance Index: 12.7700
Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: 0.5816
Cell Significance Index: 27.3400
Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: 0.5522
Cell Significance Index: 244.1500
Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.4125
Cell Significance Index: 776.6600
Cell Name: cerebellar granule cell (CL0001031)
Fold Change: 0.3828
Cell Significance Index: 6.5600
Cell Name: hippocampal pyramidal neuron (CL1001571)
Fold Change: 0.3573
Cell Significance Index: 10.2000
Cell Name: ciliary muscle cell (CL1000443)
Fold Change: 0.3014
Cell Significance Index: 136.7900
Cell Name: lens epithelial cell (CL0002224)
Fold Change: 0.2817
Cell Significance Index: 433.6400
Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: 0.2677
Cell Significance Index: 170.0400
Cell Name: anterior lens cell (CL0002223)
Fold Change: 0.2484
Cell Significance Index: 458.1800
Cell Name: type I muscle cell (CL0002211)
Fold Change: 0.2426
Cell Significance Index: 5.9200
Cell Name: secondary lens fiber (CL0002225)
Fold Change: 0.1938
Cell Significance Index: 263.5100
Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 0.1896
Cell Significance Index: 8.8400
Cell Name: colon goblet cell (CL0009039)
Fold Change: 0.1517
Cell Significance Index: 15.0100
Cell Name: lactocyte (CL0002325)
Fold Change: 0.1361
Cell Significance Index: 17.5800
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.1349
Cell Significance Index: 4.7400
Cell Name: odontoblast (CL0000060)
Fold Change: 0.0325
Cell Significance Index: 4.1700
Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: -0.0160
Cell Significance Index: -2.7400
Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0346
Cell Significance Index: -25.3600
Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0565
Cell Significance Index: -41.8600
Cell Name: pancreatic PP cell (CL0002275)
Fold Change: -0.0820
Cell Significance Index: -51.1900
Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0979
Cell Significance Index: -74.1400
Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: -0.1245
Cell Significance Index: -3.5700
Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: -0.1245
Cell Significance Index: -23.7000
Cell Name: glycinergic neuron (CL1001509)
Fold Change: -0.1369
Cell Significance Index: -7.1900
Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.1388
Cell Significance Index: -78.3000
Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: -0.1399
Cell Significance Index: -6.3400
Cell Name: bladder urothelial cell (CL1001428)
Fold Change: -0.1842
Cell Significance Index: -9.5700
Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: -0.2103
Cell Significance Index: -5.7200
Cell Name: Purkinje cell (CL0000121)
Fold Change: -0.2128
Cell Significance Index: -4.6600
Cell Name: early pro-B cell (CL0002046)
Fold Change: -0.2177
Cell Significance Index: -14.0500
Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: -0.2433
Cell Significance Index: -16.8300
Cell Name: abnormal cell (CL0001061)
Fold Change: -0.2543
Cell Significance Index: -25.9800
Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.2842
Cell Significance Index: -59.8600
Cell Name: mesenchymal cell (CL0008019)
Fold Change: -0.2880
Cell Significance Index: -4.8200
Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: -0.2963
Cell Significance Index: -22.0800
Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.3134
Cell Significance Index: -45.5500
Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.3268
Cell Significance Index: -94.0200
Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: -0.4916
Cell Significance Index: -57.2900
Cell Name: pancreatic endocrine cell (CL0008024)
Fold Change: -0.5178
Cell Significance Index: -59.1100
Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.6155
Cell Significance Index: -70.5100
Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.6465
Cell Significance Index: -67.3200
Cell Name: sebum secreting cell (CL0000317)
Fold Change: -0.6617
Cell Significance Index: -46.8000
Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: -0.7615
Cell Significance Index: -10.3900
Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: -0.7760
Cell Significance Index: -48.9100
Cell Name: cardiac muscle cell (CL0000746)
Fold Change: -0.7796
Cell Significance Index: -11.5100
Cell Name: cardiac endothelial cell (CL0010008)
Fold Change: -0.9671
Cell Significance Index: -13.9100
Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -1.0199
Cell Significance Index: -80.7800
Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: -1.0513
Cell Significance Index: -22.3900
Cell Name: fibroblast of cardiac tissue (CL0002548)
Fold Change: -1.2179
Cell Significance Index: -17.4900
Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
Fold Change: -1.2915
Cell Significance Index: -37.9300
Cell Name: gut absorptive cell (CL0000677)
Fold Change: -1.3276
Cell Significance Index: -79.7000
Cell Name: endothelial cell of placenta (CL0009092)
Fold Change: -1.4565
Cell Significance Index: -8.8000
Cell Name: Hofbauer cell (CL3000001)
Fold Change: -1.4704
Cell Significance Index: -11.9900
Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
Fold Change: -1.4889
Cell Significance Index: -51.7400
Cell Name: umbrella cell of urothelium (CL4030056)
Fold Change: -1.5008
Cell Significance Index: -13.8200
Cell Name: OFF midget ganglion cell (CL4033047)
Fold Change: -1.5093
Cell Significance Index: -18.8200
Cell Name: intestinal tuft cell (CL0019032)
Fold Change: -1.6736
Cell Significance Index: -102.6100
Cell Name: granulosa cell (CL0000501)
Fold Change: -1.7095
Cell Significance Index: -44.9500
Cell Name: peg cell (CL4033014)
Fold Change: -1.7876
Cell Significance Index: -41.3000
Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: -1.8255
Cell Significance Index: -48.9200
Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: -1.9001
Cell Significance Index: -62.2100
Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: -1.9115
Cell Significance Index: -60.8800

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

**Key Characteristics** PAFAH1B1 is a regulatory subunit of the platelet-activating factor acetylhydrolase (PAF-AH) enzyme complex, which is responsible for the degradation of PAF. The PAF-AH complex is composed of two subunits: the catalytic subunit (PAF-AH1) and the regulatory subunit (PAFAH1B1). PAFAH1B1 is essential for the proper functioning of the PAF-AH complex, as it regulates the activity of PAF-AH1 and prevents its auto-activation. **Pathways and Functions** PAFAH1B1 is involved in various cellular processes, including: 1. **Cell migration**: PAFAH1B1 regulates the activity of PAF-AH, which is essential for cell migration, including the migration of neurons during development and the migration of immune cells during inflammation. 2. **Cell division**: PAFAH1B1 is involved in the regulation of the cell cycle, particularly during the G2/M phase, where it regulates the activity of PAF-AH and modulates the mitotic spindle checkpoint. 3. **Neurotransmission**: PAFAH1B1 is involved in the regulation of neurotransmission, including the modulation of chemical synaptic transmission and the regulation of axon extension. 4. **Immune responses**: PAFAH1B1 regulates the activity of PAF, which is involved in the regulation of immune responses, including inflammation and immune cell migration. **Clinical Significance** Dysregulation of PAFAH1B1 has been implicated in various neurological disorders, including: 1. **Neurodevelopmental disorders**: Mutations in PAFAH1B1 have been associated with neurodevelopmental disorders, such as autism spectrum disorder and intellectual disability. 2. **Neurodegenerative disorders**: PAFAH1B1 has been implicated in the pathogenesis of neurodegenerative disorders, including Alzheimer's disease and Parkinson's disease. 3. **Cancer**: PAFAH1B1 has been implicated in the regulation of cancer cell migration and invasion, and its dysregulation has been associated with cancer progression. In conclusion, PAFAH1B1 is a critical gene involved in various cellular processes, including cell migration, division, and neurotransmission. Its dysregulation has been implicated in various neurological disorders, and further research is needed to fully understand its role in human health and disease.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

LIS1_HUMAN
A0A6Q8PFU3_HUMAN

Genular Protein ID: 2147941792

Symbol: LIS1_HUMAN

Name: N/A

UniProtKB Accession Codes:

P43034 B2R7Q7 Q8WZ88 Q8WZ89

Database IDs:

Citations:

PubMed ID: 8355785

Title: Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats.

PubMed ID: 8355785

DOI: 10.1038/364717a0

PubMed ID: 9063735

Title: Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.

PubMed ID: 9063735

DOI: 10.1093/hmg/6.2.157

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11001923

Title: Interaction between LIS1 and doublecortin, two lissencephaly gene products.

PubMed ID: 11001923

DOI: 10.1093/oxfordjournals.hmg.a018911

PubMed ID: 11163258

Title: LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome.

PubMed ID: 11163258

DOI: 10.1016/s0896-6273(00)00145-8

PubMed ID: 11889140

Title: Role of dynein, dynactin, and CLIP-170 interactions in LIS1 kinetochore function.

PubMed ID: 11889140

DOI: 10.1083/jcb.200109046

PubMed ID: 11940666

Title: LIS1, CLIP-170's key to the dynein/dynactin pathway.

PubMed ID: 11940666

DOI: 10.1128/mcb.22.9.3089-3102.2002

PubMed ID: 12556484

Title: Human Nudel and NudE as regulators of cytoplasmic dynein in poleward protein transport along the mitotic spindle.

PubMed ID: 12556484

DOI: 10.1128/mcb.23.4.1239-1250.2003

PubMed ID: 14654843

Title: Proteomic characterization of the human centrosome by protein correlation profiling.

PubMed ID: 14654843

DOI: 10.1038/nature02166

PubMed ID: 14970193

Title: Nudel functions in membrane traffic mainly through association with Lis1 and cytoplasmic dynein.

PubMed ID: 14970193

DOI: 10.1083/jcb.200308058

PubMed ID: 15173193

Title: Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration.

PubMed ID: 15173193

DOI: 10.1083/jcb.200309025

PubMed ID: 14962739

Title: Disrupted in Schizophrenia 1 and Nudel form a neurodevelopmentally regulated protein complex: implications for schizophrenia and other major neurological disorders.

PubMed ID: 14962739

DOI: 10.1016/j.mcn.2003.09.009

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22159412

Title: Linking cytoplasmic dynein and transport of Rab8 vesicles to the midbody during cytokinesis by the doublecortin domain-containing 5 protein.

PubMed ID: 22159412

DOI: 10.1242/jcs.085407

PubMed ID: 22956769

Title: BICD2, dynactin, and LIS1 cooperate in regulating dynein recruitment to cellular structures.

PubMed ID: 22956769

DOI: 10.1091/mbc.e12-03-0210

PubMed ID: 23097494

Title: Human Asunder promotes dynein recruitment and centrosomal tethering to the nucleus at mitotic entry.

PubMed ID: 23097494

DOI: 10.1091/mbc.e12-07-0558

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 10441340

Title: Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.

PubMed ID: 10441340

DOI: 10.1093/hmg/8.9.1757

PubMed ID: 11502906

Title: LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.

PubMed ID: 11502906

DOI: 10.1212/wnl.57.3.416

PubMed ID: 14581661

Title: Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.

PubMed ID: 14581661

DOI: 10.1212/wnl.61.8.1042

PubMed ID: 15007136

Title: Mutation screening in a cohort of patients with lissencephaly and subcortical band heterotopia.

PubMed ID: 15007136

DOI: 10.1212/01.wnl.0000113725.46254.fd

Sequence Information:

Length: 410
Mass: 46638
Checksum: 3AB68D2641BA31C9
Sequence:

MVLSQRQRDE LNRAIADYLR SNGYEEAYSV FKKEAELDVN EELDKKYAGL LEKKWTSVIR 
LQKKVMELES KLNEAKEEFT SGGPLGQKRD PKEWIPRPPE KYALSGHRSP VTRVIFHPVF 
SVMVSASEDA TIKVWDYETG DFERTLKGHT DSVQDISFDH SGKLLASCSA DMTIKLWDFQ 
GFECIRTMHG HDHNVSSVAI MPNGDHIVSA SRDKTIKMWE VQTGYCVKTF TGHREWVRMV 
RPNQDGTLIA SCSNDQTVRV WVVATKECKA ELREHEHVVE CISWAPESSY SSISEATGSE 
TKKSGKPGPF LLSGSRDKTI KMWDVSTGMC LMTLVGHDNW VRGVLFHSGG KFILSCADDK 
TLRVWDYKNK RCMKTLNAHE HFVTSLDFHK TAPYVVTGSV DQTVKVWECR

Genular Protein ID: 3747072155

Symbol: A0A6Q8PFU3_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A6Q8PFU3

Database IDs:

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

Sequence Information:

Length: 428
Mass: 48770
Checksum: C8A6B58279FD70C3
Sequence:

MVLSQRQRDE LDWFQRGEDS ILNKADEARN RAIADYLRSN GYEEAYSVFK KEAELDVNEE 
LDKKYAGLLE KKWTSVIRLQ KKVMELESKL NEAKEEFTSG GPLGQKRDPK EWIPRPPEKY 
ALSGHRSPVT RVIFHPVFSV MVSASEDATI KVWDYETGDF ERTLKGHTDS VQDISFDHSG 
KLLASCSADM TIKLWDFQGF ECIRTMHGHD HNVSSVAIMP NGDHIVSASR DKTIKMWEVQ 
TGYCVKTFTG HREWVRMVRP NQDGTLIASC SNDQTVRVWV VATKECKAEL REHEHVVECI 
SWAPESSYSS ISEATGSETK KSGKPGPFLL SGSRDKTIKM WDVSTGMCLM TLVGHDNWVR 
GVLFHSGGKF ILSCADDKTL RVWDYKNKRC MKTLNAHEHF VTSLDFHKTA PYVVTGSVDQ 
TVKVWECR

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: PAFAH1B1

Associated with

Cells (max top 100)

Other Information

Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. PubMed ID: 8355785

Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. PubMed ID: 9063735

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The full-ORF clone resource of the German cDNA consortium. PubMed ID: 17974005

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Interaction between LIS1 and doublecortin, two lissencephaly gene products. PubMed ID: 11001923

LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome. PubMed ID: 11163258

Role of dynein, dynactin, and CLIP-170 interactions in LIS1 kinetochore function. PubMed ID: 11889140

LIS1, CLIP-170's key to the dynein/dynactin pathway. PubMed ID: 11940666

Human Nudel and NudE as regulators of cytoplasmic dynein in poleward protein transport along the mitotic spindle. PubMed ID: 12556484

Proteomic characterization of the human centrosome by protein correlation profiling. PubMed ID: 14654843

Nudel functions in membrane traffic mainly through association with Lis1 and cytoplasmic dynein. PubMed ID: 14970193

Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration. PubMed ID: 15173193

Disrupted in Schizophrenia 1 and Nudel form a neurodevelopmentally regulated protein complex: implications for schizophrenia and other major neurological disorders. PubMed ID: 14962739

Lysine acetylation targets protein complexes and co-regulates major cellular functions. PubMed ID: 19608861

Initial characterization of the human central proteome. PubMed ID: 21269460

Linking cytoplasmic dynein and transport of Rab8 vesicles to the midbody during cytokinesis by the doublecortin domain-containing 5 protein. PubMed ID: 22159412

BICD2, dynactin, and LIS1 cooperate in regulating dynein recruitment to cellular structures. PubMed ID: 22956769

Human Asunder promotes dynein recruitment and centrosomal tethering to the nucleus at mitotic entry. PubMed ID: 23097494

Toward a comprehensive characterization of a human cancer cell phosphoproteome. PubMed ID: 23186163

Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. PubMed ID: 10441340

LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ. PubMed ID: 11502906

Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. PubMed ID: 14581661

Mutation screening in a cohort of patients with lissencephaly and subcortical band heterotopia. PubMed ID: 15007136

Initial sequencing and analysis of the human genome. PubMed ID: 11237011

Finishing the euchromatic sequence of the human genome. PubMed ID: 15496913

DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. PubMed ID: 16625196