• Gene id: 55607

Gene Summary

• Gene Symbol: PPP1R9A   Gene   UCSC   Ensembl
• Aliases: NRB1, NRBI, Neurabin-I
• Gene name: protein phosphatase 1 regulatory subunit 9A
• Alternate names: neurabin-1, neural tissue-specific F-actin-binding protein I, protein phosphatase 1, regulatory (inhibitor) subunit 9A,
• Gene location: 7q21.3 (94907201: 95296414)     Exons: 29     NC_000007.14
• Gene summary(Entrez): This gene is imprinted, and located in a cluster of imprinted genes on chromosome 7q12. This gene is transcribed in both neuronal and multiple embryonic tissues, and it is maternally expressed mainly in embryonic skeletal muscle tissues and biallelically
• OMIM: 600249

Protein Summary

• Protein general information: Q9ULJ8  
  • Name: Neurabin 1 (Neurabin I) (Neural tissue specific F actin binding protein I) (Protein phosphatase 1 regulatory subunit 9A)
  • Length: 1098  
  • Mass: 123342
• Sequence:

  MLKTESSGERTTLRSASPHRNAYRTEFQALKSTFDKPKSDGEQKTKEGEGSQQSRGRKYGSNVNRIKNLFMQMGM
  EPNENAAVIAKTRGKGGHSSPQRRMKPKEFLEKTDGSVVKLESSVSERISRFDTMYDGPSYSKFTETRKMFERSV
  HESGQNNRYSPKKEKAGGSEPQDEWGGSKSNRGSTDSLDSLSSRTEAVSPTVSQLSAVFENTDSPSAIISEKAEN
  NEYSVTGHYPLNLPSVTVTNLDTFGHLKDSNSWPPSNKRGVDTEDAHKSNATPVPEVASKSTSLASIPGEEIQQS
  KEPEDSTSNQQTPDSIDKDGPEEPCAESKAMPKSEIPSPQSQLLEDAEANLVGREAAKQQRKELAGGDFTSPDAS
  ASSCGKEVPEDSNNFDGSHVYMHSDYNVYRVRSRYNSDWGETGTEQDEEEDSDENSYYQPDMEYSEIVGLPEEEE
  IPANRKIKFSSAPIKVFNTYSNEDYDRRNDEVDPVAASAEYELEKRVEKLELFPVELEKDEDGLGISIIGMGVGA
  DAGLEKLGIFVKTVTEGGAAQRDGRIQVNDQIVEVDGISLVGVTQNFAATVLRNTKGNVRFVIGREKPGQVSEVA
  QLISQTLEQERRQRELLEQHYAQYDADDDETGEYATDEEEDEVGPVLPGSDMAIEVFELPENEDMFSPSELDTSK
  LSHKFKELQIKHAVTEAEIQKLKTKLQAAENEKVRWELEKTQLQQNIEENKERMLKLESYWIEAQTLCHTVNEHL
  KETQSQYQALEKKYNKAKKLIKDFQQKELDFIKRQEAERKKIEDLEKAHLVEVQGLQVRIRDLEAEVFRLLKQNG
  TQVNNNNNIFERRTSLGEVSKGDTMENLDGKQTSCQDGLSQDLNEAVPETERLDSKALKTRAQLSVKNRRQRPSR
  TRLYDSVSSTDGEDSLERKNFTFNDDFSPSSTSSADLSGLGAEPKTPGLSQSLALSSDESLDMIDDEILDDGQSP
  KHSQCQNRAVQEWSVQQVSHWLMSLNLEQYVSEFSAQNITGEQLLQLDGNKLKALGMTASQDRAVVKKKLKEMKM
  SLEKARKAQEKMEKQREKLRRKEQEQMQRKSKKTEKMTSTTAEGAGEQ

• Structural information:
  • Protein Domains: (504..59-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (988..105-)
    (/note="SAM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184"-)
  • Interpro: IPR029994  IPR040645  IPR001478  IPR036034  IPR001660   IPR013761  
  • Prosite: PS50106 PS50105
  • PDB: 1WF8
  • PDBsum: 1WF8
  • STRING: ENSP00000405514
• Other Databases: GeneCards:  PPP1R9A  Malacards:  PPP1R9A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051015	actin filament binding	IBA	molecular function
GO:0031175	neuron projection development	IBA	biological process
GO:0030425	dendrite	IBA	cellular component
GO:0015629	actin cytoskeleton	IBA	cellular component
GO:0007015	actin filament organization	IBA	biological process
GO:0019722	calcium-mediated signaling	IBA	biological process
GO:0014069	postsynaptic density	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0007015	actin filament organization	IEA	biological process
GO:0030175	filopodium	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0007568	aging	IEA	biological process
GO:0008022	protein C-terminus binding	IEA	molecular function
GO:0008157	protein phosphatase 1 binding	IEA	molecular function
GO:0015629	actin cytoskeleton	IEA	cellular component
GO:0030175	filopodium	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0031175	neuron projection development	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0044325	ion channel binding	IEA	molecular function
GO:0051015	actin filament binding	IEA	molecular function
GO:0051489	regulation of filopodium assembly	IEA	biological process
GO:0051823	regulation of synapse structural plasticity	IEA	biological process
GO:0051963	regulation of synapse assembly	IEA	biological process
GO:0060999	positive regulation of dendritic spine development	IEA	biological process
GO:0098974	postsynaptic actin cytoskeleton organization	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:1990761	growth cone lamellipodium	IEA	cellular component
GO:0019722	calcium-mediated signaling	IEA	biological process
GO:0030864	cortical actin cytoskeleton	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0050804	modulation of chemical synaptic transmission	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0010976	positive regulation of neuron projection development	IEA	biological process
GO:0014069	postsynaptic density	IEA	cellular component
GO:0019901	protein kinase binding	IEA	molecular function
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0030027	lamellipodium	IEA	cellular component
GO:0030426	growth cone	IEA	cellular component
GO:0030833	regulation of actin filament polymerization	IEA	biological process
GO:0031594	neuromuscular junction	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0043025	neuronal cell body	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0044326	dendritic spine neck	IEA	cellular component
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0045860	positive regulation of protein kinase activity	IEA	biological process
GO:0048666	neuron development	IEA	biological process
GO:0051020	GTPase binding	IEA	molecular function
GO:0051497	negative regulation of stress fiber assembly	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0061001	regulation of dendritic spine morphogenesis	IEA	biological process
GO:0097237	cellular response to toxic substance	IEA	biological process
GO:0098871	postsynaptic actin cytoskeleton	IEA	cellular component
GO:1900272	negative regulation of long-term synaptic potentiation	IEA	biological process
GO:1900454	positive regulation of long-term synaptic depression	IEA	biological process
GO:1904049	negative regulation of spontaneous neurotransmitter secretion	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0051015	actin filament binding	IBA	molecular function
GO:0031175	neuron projection development	IBA	biological process
GO:0030425	dendrite	IBA	cellular component
GO:0015629	actin cytoskeleton	IBA	cellular component
GO:0007015	actin filament organization	IBA	biological process
GO:0019722	calcium-mediated signaling	IBA	biological process
GO:0014069	postsynaptic density	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0007015	actin filament organization	IEA	biological process
GO:0030175	filopodium	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0007568	aging	IEA	biological process
GO:0008022	protein C-terminus binding	IEA	molecular function
GO:0008157	protein phosphatase 1 binding	IEA	molecular function
GO:0015629	actin cytoskeleton	IEA	cellular component
GO:0030175	filopodium	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0031175	neuron projection development	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0044325	ion channel binding	IEA	molecular function
GO:0051015	actin filament binding	IEA	molecular function
GO:0051489	regulation of filopodium assembly	IEA	biological process
GO:0051823	regulation of synapse structural plasticity	IEA	biological process
GO:0051963	regulation of synapse assembly	IEA	biological process
GO:0060999	positive regulation of dendritic spine development	IEA	biological process
GO:0098974	postsynaptic actin cytoskeleton organization	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:1990761	growth cone lamellipodium	IEA	cellular component
GO:0019722	calcium-mediated signaling	IEA	biological process
GO:0030864	cortical actin cytoskeleton	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0050804	modulation of chemical synaptic transmission	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0010976	positive regulation of neuron projection development	IEA	biological process
GO:0014069	postsynaptic density	IEA	cellular component
GO:0019901	protein kinase binding	IEA	molecular function
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0030027	lamellipodium	IEA	cellular component
GO:0030426	growth cone	IEA	cellular component
GO:0030833	regulation of actin filament polymerization	IEA	biological process
GO:0031594	neuromuscular junction	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0043025	neuronal cell body	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0044326	dendritic spine neck	IEA	cellular component
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0045860	positive regulation of protein kinase activity	IEA	biological process
GO:0048666	neuron development	IEA	biological process
GO:0051020	GTPase binding	IEA	molecular function
GO:0051497	negative regulation of stress fiber assembly	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0061001	regulation of dendritic spine morphogenesis	IEA	biological process
GO:0097237	cellular response to toxic substance	IEA	biological process
GO:0098871	postsynaptic actin cytoskeleton	IEA	cellular component
GO:1900272	negative regulation of long-term synaptic potentiation	IEA	biological process
GO:1900454	positive regulation of long-term synaptic depression	IEA	biological process
GO:1904049	negative regulation of spontaneous neurotransmitter secretion	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component

Diseases

Associated diseases	References
Huntington's disease	PMID:20089533
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Low sperm motility	MIK: 21674046
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Low sperm motility			18	Male infertility	GSE26881
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray