FertilityOnline | Spermatogenes

Detail Information of SG000011

General information

SG ID

SG000011

Gene Name

PAFAH1B1

Gene Synonyms/Alias

LIS1, LIS2, MDCR, MDS, NudF, PAFAH

Organism

Homo sapiens

NCBI Taxonomy ID

9606

Ensembl Gene ID

ENSG00000007168

Ensembl Protein ID

ENSP00000461087 ENSP00000380378 ENSP00000460258 ENSP00000460591

Description

Platelet activating factor acetylhydrolase 1b regulatory subunit 1 [Homo sapiens (human)]

Orthology

Species	Uniprot	Gene stable ID	Gene Name
Mus musculus	P63005	MGI:109520	Pafah1b1
Rattus norvegicus	P63004	RGD:620331	Pafah1b1
Gallus gallus	Q9PTR5	Ensembl:ENSGALG00000005834	PAFAH1B1

More Orthology >>

Status

Reviewed functional gene

Functional information

Function in Stage	premeiotic meiotic postmeiotic
Function in Cell Type	Sertoli cell Spermatid Spermatocyte
The information of related literature	1. Abstract Spermatogenesis, fertilization and subsequent embryonic development are complex processes that require tight regulation. The PAFAH1B1 gene plays important roles in these reproductive events in mice, but its expression and roles in ... PMID: [26380866]
Figures for illustrating the function of this protein/gene	Yao, G. D., Shi, S. L., Song, W. Y., Jin, H. X., Peng, Z. F., Yang, H. Y., Wang, E. Y. and Sun, Y. P. (2015) Role of PAFAH1B1 in human spermatogenesis, fertilization and early embryonic development. Reprod Biomed Online 31(5): 613-24. PMID: [26380866] Yao, G. D., Shi, S. L., Song, W. Y., Jin, H. X., Peng, Z. F., Yang, H. Y., Wang, E. Y. and Sun, Y. P. (2015) Role of PAFAH1B1 in human spermatogenesis, fertilization and early embryonic development. Reprod Biomed Online 31(5): 613-24. PMID: [26380866] Yao, G. D., Shi, S. L., Song, W. Y., Jin, H. X., Peng, Z. F., Yang, H. Y., Wang, E. Y. and Sun, Y. P. (2015) Role of PAFAH1B1 in human spermatogenesis, fertilization and early embryonic development. Reprod Biomed Online 31(5): 613-24. PMID: [26380866] Yao, G. D., Shi, S. L., Song, W. Y., Jin, H. X., Peng, Z. F., Yang, H. Y., Wang, E. Y. and Sun, Y. P. (2015) Role of PAFAH1B1 in human spermatogenesis, fertilization and early embryonic development. Reprod Biomed Online 31(5): 613-24. PMID: [26380866] Yao, G. D., Shi, S. L., Song, W. Y., Jin, H. X., Peng, Z. F., Yang, H. Y., Wang, E. Y. and Sun, Y. P. (2015) Role of PAFAH1B1 in human spermatogenesis, fertilization and early embryonic development. Reprod Biomed Online 31(5): 613-24. PMID: [26380866] Yao, G. D., Shi, S. L., Song, W. Y., Jin, H. X., Peng, Z. F., Yang, H. Y., Wang, E. Y. and Sun, Y. P. (2015) Role of PAFAH1B1 in human spermatogenesis, fertilization and early embryonic development. Reprod Biomed Online 31(5): 613-24. PMID: [26380866]
Functional description	Platelet-activating factor acetylhydrolase IB subunit alpha (PAFAH1B1), also known as the lissencephaly 1 (LIS1) gene, plays important roles during reproductive events. PAFAH1B1 have an important role in testicular function particularly, during the transition of spermatids to mature spermatozoa
Protein complex
Pathway	ReactomeID: R-HSA-8854518 AURKA Activation by TPX2
Human diseases	Subcortical band heterotopia
OMIM	601545
Spermatogenesis failure	N/A

Expression and location

Tissue specificity (in Homo sapiens)	Expressed highest in cerebral cortex
Testicular Cell specificity (in Mus musculus)	Expressed highest in spermatid
Testicular scRNA-seq (in Homo sapiens)	View detail
Testicular scRNA-seq (in Mus musculus)	View detail
Subcellular location	Cytoplasm, cytoskeleton. Cytoplasm

Mutation

Variants founded in public databases	1000G (Phase 3): 2802 ESP6500 (SI-V2): 74 ExAC (r0.3.1): 355 dbSNP(Build 147): 5983
Variants founded in in-house datasets	Chinese health control (254): 3 European health control (283): 1 Chinese patients (168):
De novo Mutation Rate	Gene Name: PAFAH1B1 DNMR-average: 0.0000170266666667 DNMR-SC: 0.0000177179

Other information

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Sub-Ontologies	Accession	Term	Evidence
Biological Process	GO:0000086	G2/M transition of mitotic cell cycle	TAS
Biological Process	GO:0000132	establishment of mitotic spindle orientation	IMP
Biological Process	GO:0000226	microtubule cytoskeleton organization	ISS
Biological Process	GO:0001667	ameboidal-type cell migration	IEA
Biological Process	GO:0001675	acrosome assembly	IEA
Biological Process	GO:0001764	neuron migration	IMP
Biological Process	GO:0001961	positive regulation of cytokine-mediated signaling pathway	IEA
Biological Process	GO:0006629	lipid metabolic process	IEA
Biological Process	GO:0006810	transport	IEA
Biological Process	GO:0007017	microtubule-based process	IDA
Biological Process	GO:0007049	cell cycle	IEA
Biological Process	GO:0007062	sister chromatid cohesion	TAS
Biological Process	GO:0007097	nuclear migration	IEA
Biological Process	GO:0007268	chemical synaptic transmission	ISS
Biological Process	GO:0007275	multicellular organism development	IEA
Biological Process	GO:0007281	germ cell development	IBA
Biological Process	GO:0007399	nervous system development	IEA
Biological Process	GO:0007405	neuroblast proliferation	ISS
Biological Process	GO:0007420	brain development	IEA
Biological Process	GO:0007611	learning or memory	IEA
Biological Process	GO:0008090	retrograde axonal transport	ISS
Biological Process	GO:0008344	adult locomotory behavior	IMP
Biological Process	GO:0009306	protein secretion	IEA
Biological Process	GO:0010977	negative regulation of neuron projection development	IEA
Biological Process	GO:0016042	lipid catabolic process	IEA
Biological Process	GO:0016477	cell migration	IEA
Biological Process	GO:0017145	stem cell division	IEA
Biological Process	GO:0019226	transmission of nerve impulse	ISS
Biological Process	GO:0021540	corpus callosum morphogenesis	IMP
Biological Process	GO:0021766	hippocampus development	IEA
Biological Process	GO:0021819	layer formation in cerebral cortex	IEA
Biological Process	GO:0021895	cerebral cortex neuron differentiation	IEA
Biological Process	GO:0021987	cerebral cortex development	IMP
Biological Process	GO:0030036	actin cytoskeleton organization	ISS
Biological Process	GO:0030154	cell differentiation	IEA
Biological Process	GO:0031023	microtubule organizing center organization	IMP
Biological Process	GO:0036035	osteoclast development	IEA
Biological Process	GO:0040019	positive regulation of embryonic development	IEA
Biological Process	GO:0042249	establishment of planar polarity of embryonic epithelium	IEA
Biological Process	GO:0043087	regulation of GTPase activity	IEA
Biological Process	GO:0043622	cortical microtubule organization	IEA
Biological Process	GO:0045773	positive regulation of axon extension	IEA
Biological Process	GO:0045931	positive regulation of mitotic cell cycle	IEA
Biological Process	GO:0046329	negative regulation of JNK cascade	IEA
Biological Process	GO:0046469	platelet activating factor metabolic process	ISS
Biological Process	GO:0047496	vesicle transport along microtubule	ISS
Biological Process	GO:0048854	brain morphogenesis	IMP
Biological Process	GO:0050885	neuromuscular process controlling balance	IMP
Biological Process	GO:0051081	nuclear envelope disassembly	IEA
Biological Process	GO:0051130	positive regulation of cellular component organization	IEA
Biological Process	GO:0051301	cell division	IEA
Biological Process	GO:0051660	establishment of centrosome localization	IEA
Biological Process	GO:0051661	maintenance of centrosome location	IEA
Biological Process	GO:0060117	auditory receptor cell development	IEA
Biological Process	GO:0061003	positive regulation of dendritic spine morphogenesis	IEA
Biological Process	GO:0070507	regulation of microtubule cytoskeleton organization	IEA
Biological Process	GO:0090102	cochlea development	IEA
Biological Process	GO:0090176	microtubule cytoskeleton organization involved in establishment of planar polarity	IEA
Biological Process	GO:0097711	ciliary basal body docking	TAS
Biological Process	GO:2000574	regulation of microtubule motor activity	IBA
Cellular Component	GO:0000235	astral microtubule	IDA
Cellular Component	GO:0000776	kinetochore	IDA
Cellular Component	GO:0005634	nucleus	IEA
Cellular Component	GO:0005635	nuclear envelope	IDA
Cellular Component	GO:0005737	cytoplasm	IEA
Cellular Component	GO:0005813	centrosome	IDA
Cellular Component	GO:0005815	microtubule organizing center	IEA
Cellular Component	GO:0005819	spindle	IEA
Cellular Component	GO:0005829	cytosol	TAS
Cellular Component	GO:0005856	cytoskeleton	IEA
Cellular Component	GO:0005871	kinesin complex	IEA
Cellular Component	GO:0005874	microtubule	IEA
Cellular Component	GO:0005875	microtubule associated complex	IDA
Cellular Component	GO:0005938	cell cortex	IDA
Cellular Component	GO:0015630	microtubule cytoskeleton	IEA
Cellular Component	GO:0016020	membrane	IEA
Cellular Component	GO:0030424	axon	IEA
Cellular Component	GO:0030426	growth cone	IEA
Cellular Component	GO:0031252	cell leading edge	IEA
Cellular Component	GO:0031514	motile cilium	IEA
Cellular Component	GO:0031965	nuclear membrane	IEA
Cellular Component	GO:0031982	vesicle	IEA
Cellular Component	GO:0032420	stereocilium	IEA
Cellular Component	GO:0043005	neuron projection	IEA
Cellular Component	GO:0043025	neuronal cell body	IEA
Cellular Component	GO:0048471	perinuclear region of cytoplasm	IEA
Cellular Component	GO:0070062	extracellular exosome	IDA
Cellular Component	GO:0090724	central region of growth cone	IEA
Cellular Component	GO:1904115	axon cytoplasm	IEA
Molecular Function	GO:0004623	phospholipase A2 activity	TAS
Molecular Function	GO:0005515	protein binding	IPI
Molecular Function	GO:0008017	microtubule binding	ISS
Molecular Function	GO:0008201	heparin binding	ISS
Molecular Function	GO:0032403	protein complex binding	IEA
Molecular Function	GO:0034452	dynactin binding	ISS
Molecular Function	GO:0042803	protein homodimerization activity	IEA
Molecular Function	GO:0043274	phospholipase binding	ISS
Molecular Function	GO:0045505	dynein intermediate chain binding	IEA
Molecular Function	GO:0051219	phosphoprotein binding	IEA
Molecular Function	GO:0070840	dynein complex binding	IDA

Protein-Protein interaction information

Protein A	Gene name A	Protein B	Gene name B	Evidence
ENSMUSP00000021091	Pafah1b1	ENSMUSP00000021148	Ube2g1	experimental
ENSMUSP00000021091	Pafah1b1	ENSMUSP00000021203		predicted
ENSMUSP00000021091	Pafah1b1	ENSMUSP00000021226	Luc7l3	predicted

More PPIs >>

Protein family and Domain

P43034