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PPP1R9A protein phosphatase 1 regulatory subunit 9A [ Homo sapiens (human) ]

Gene ID: 55607, updated on 6-Jan-2019

Summary

Official Symbol
PPP1R9Aprovided by HGNC
Official Full Name
protein phosphatase 1 regulatory subunit 9Aprovided by HGNC
Primary source
HGNC:HGNC:14946
See related
Ensembl:ENSG00000158528 MIM:602468
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NRB1; NRBI; Neurabin-I
Summary
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 expressed in other embryonic tissues. The protein encoded by this gene includes a PDZ domain and a sterile alpha motif (SAM). It is a regulatory subunit of protein phosphatase I, and controls actin cytoskeleton reorganization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Expression
Broad expression in brain (RPKM 4.9), adrenal (RPKM 2.5) and 21 other tissues See more
Orthologs

Genomic context

See PPP1R9A in Genome Data Viewer
Location:
7q21.3
Exon count:
29
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (94907202..95296415)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (94536949..94925727)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RNA, 7SK small nuclear pseudogene 129 Neighboring gene ADP ribosylation factor 1 pseudogene 1 Neighboring gene histidine triad nucleotide binding protein 1 pseudogene 2 Neighboring gene uncharacterized LOC105375405 Neighboring gene RNA, U4 small nuclear 16, pseudogene Neighboring gene HERV-FRD provirus ancestral Env polyprotein pseudogene Neighboring gene paraoxonase 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2012-04-04)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2012-04-04)

ClinGen Genome Curation Page

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20068, KIAA1222

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase binding IEA
Inferred from Electronic Annotation
more info
 
actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ion channel binding IEA
Inferred from Electronic Annotation
more info
 
protein C-terminus binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IEA
Inferred from Electronic Annotation
more info
 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
protein kinase binding IEA
Inferred from Electronic Annotation
more info
 
protein phosphatase 1 binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
actin filament organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
aging IEA
Inferred from Electronic Annotation
more info
 
calcium-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to toxic substance IEA
Inferred from Electronic Annotation
more info
 
excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
 
negative regulation of long-term synaptic potentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of spontaneous neurotransmitter secretion IEA
Inferred from Electronic Annotation
more info
 
negative regulation of stress fiber assembly IEA
Inferred from Electronic Annotation
more info
 
neuron projection development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of dendritic spine development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of long-term synaptic depression IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein kinase activity IEA
Inferred from Electronic Annotation
more info
 
postsynaptic actin cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
regulation of actin filament polymerization IEA
Inferred from Electronic Annotation
more info
 
regulation of dendritic spine morphogenesis IEA
Inferred from Electronic Annotation
more info
 
regulation of filopodium assembly IEA
Inferred from Electronic Annotation
more info
 
regulation of synapse assembly IEA
Inferred from Electronic Annotation
more info
 
regulation of synapse structural plasticity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell junction IEA
Inferred from Electronic Annotation
more info
 
cortical actin cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IEA
Inferred from Electronic Annotation
more info
 
dendrite IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dendritic spine neck IEA
Inferred from Electronic Annotation
more info
 
filopodium IEA
Inferred from Electronic Annotation
more info
 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
growth cone lamellipodium IEA
Inferred from Electronic Annotation
more info
 
neuromuscular junction IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
postsynaptic actin cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
postsynaptic density IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
neurabin-1
Names
neural tissue-specific F-actin-binding protein I
protein phosphatase 1, regulatory (inhibitor) subunit 9A

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_015803.1 RefSeqGene

    Range
    5001..393779
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001166160.2NP_001159632.1  neurabin-1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC004022, AC073886, AK000075, AK096514, BC130449, BC150636, DA497168
    Consensus CDS
    CCDS55127.1
    UniProtKB/Swiss-Prot
    Q9ULJ8
    Related
    ENSP00000405514.1, ENST00000433360.5
    Conserved Domains (5) summary
    cd09512
    Location:12581327
    SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily
    smart00454
    Location:12611325
    SAM; Sterile alpha motif
    smart00228
    Location:501592
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam05816
    Location:688832
    TelA; Toxic anion resistance protein (TelA)
    pfam15327
    Location:897945
    Tankyrase_bdg_C; Tankyrase binding protein C terminal domain
  2. NM_001166161.1NP_001159633.1  neurabin-1 isoform 2

    See identical proteins and their annotated locations for NP_001159633.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the middle coding region and two segments in the 3' coding region, as compared to variant 1. The reading frame is not changed, but the resulting isoform (2) is shorter and lacks three internal segments, as compared to isoform 1.
    Source sequence(s)
    AC004022, AK000075, BC144108, BC150636
    Consensus CDS
    CCDS55129.1
    UniProtKB/Swiss-Prot
    Q9ULJ8
    Related
    ENSP00000289495.7, ENST00000289495.7
    Conserved Domains (4) summary
    cd09512
    Location:11801249
    SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily
    smart00454
    Location:11831247
    SAM; Sterile alpha motif
    smart00228
    Location:501592
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam05816
    Location:666810
    TelA; Toxic anion resistance protein (TelA)
  3. NM_001166162.1NP_001159634.1  neurabin-1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in several places in the CDS, as compared to variant 1. The reading frame is not changed, but the resulting isoform (3) is shorter and lacks three internal segments, as compared to isoform 1.
    Source sequence(s)
    AC004022, AK000075, BC130449, BC150636
    Consensus CDS
    CCDS55128.1
    UniProtKB/Swiss-Prot
    Q9ULJ8
    Related
    ENSP00000402893.2, ENST00000456331.6
    Conserved Domains (4) summary
    smart00228
    Location:501592
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam05816
    Location:666810
    TelA; Toxic anion resistance protein (TelA)
    pfam15327
    Location:875923
    Tankyrase_bdg_C; Tankyrase binding protein C terminal domain
    cl15755
    Location:11741206
    SAM_superfamily; SAM (Sterile alpha motif )
  4. NM_001166163.1NP_001159635.1  neurabin-1 isoform 5

    See identical proteins and their annotated locations for NP_001159635.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an exon in the middle region and four consecutive exons in the 3' coding region, as compared to variant 1. The reading frame is not changed, but the resulting isoform (5) is shorter and lacks two internal segments, as compared to isoform 1.
    Source sequence(s)
    AC004022, BC144109, BC150636
    UniProtKB/Swiss-Prot
    Q9ULJ8
    UniProtKB/TrEMBL
    B7ZLX4
    Conserved Domains (5) summary
    cd09512
    Location:9741043
    SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily
    smart00454
    Location:9771041
    SAM; Sterile alpha motif
    smart00228
    Location:501592
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam05816
    Location:666810
    TelA; Toxic anion resistance protein (TelA)
    pfam15327
    Location:875917
    Tankyrase_bdg_C; Tankyrase binding protein C terminal domain
  5. NM_017650.2NP_060120.2  neurabin-1 isoform 4

    See identical proteins and their annotated locations for NP_060120.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in several places in the CDS, as compared to variant 1. The reading frame is not changed, but the resulting isoform (4) is shorter. It lacks two internal segments but has an additional segment in the C-terminal region, as compared to isoform 1.
    Source sequence(s)
    AB033048, AC004022, AC073886, AK096514, BC037849, DA497168
    Consensus CDS
    CCDS34683.1
    UniProtKB/Swiss-Prot
    Q9ULJ8
    Related
    ENSP00000344524.4, ENST00000340694.8
    Conserved Domains (5) summary
    cd09512
    Location:9821051
    SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily
    smart00454
    Location:9851049
    SAM; Sterile alpha motif
    smart00228
    Location:501592
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam05816
    Location:666810
    TelA; Toxic anion resistance protein (TelA)
    pfam15327
    Location:875917
    Tankyrase_bdg_C; Tankyrase binding protein C terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    94907202..95296415
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516383.1XP_011514685.1  neurabin-1 isoform X1

    See identical proteins and their annotated locations for XP_011514685.1

    Conserved Domains (5) summary
    cd09512
    Location:12791348
    SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily
    smart00454
    Location:12821346
    SAM; Sterile alpha motif
    smart00228
    Location:501592
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam05816
    Location:709853
    TelA; Toxic anion resistance protein (TelA)
    pfam15327
    Location:918966
    Tankyrase_bdg_C; Tankyrase binding protein C terminal domain
  2. XM_011516381.1XP_011514683.1  neurabin-1 isoform X1

    See identical proteins and their annotated locations for XP_011514683.1

    Conserved Domains (5) summary
    cd09512
    Location:12791348
    SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily
    smart00454
    Location:12821346
    SAM; Sterile alpha motif
    smart00228
    Location:501592
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam05816
    Location:709853
    TelA; Toxic anion resistance protein (TelA)
    pfam15327
    Location:918966
    Tankyrase_bdg_C; Tankyrase binding protein C terminal domain
  3. XM_017012395.1XP_016867884.1  neurabin-1 isoform X3

    Conserved Domains (5) summary
    cd09512
    Location:12491318
    SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily
    smart00454
    Location:12521316
    SAM; Sterile alpha motif
    smart00228
    Location:501592
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam05816
    Location:709853
    TelA; Toxic anion resistance protein (TelA)
    pfam15327
    Location:918966
    Tankyrase_bdg_C; Tankyrase binding protein C terminal domain
  4. XM_017012397.1XP_016867886.1  neurabin-1 isoform X5

    Conserved Domains (5) summary
    cd09512
    Location:12411310
    SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily
    smart00454
    Location:12441308
    SAM; Sterile alpha motif
    smart00228
    Location:501592
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam05816
    Location:709853
    TelA; Toxic anion resistance protein (TelA)
    pfam15327
    Location:918966
    Tankyrase_bdg_C; Tankyrase binding protein C terminal domain
  5. XM_017012394.1XP_016867883.1  neurabin-1 isoform X2

    Conserved Domains (4) summary
    cd09512
    Location:12611330
    SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily
    smart00454
    Location:12641328
    SAM; Sterile alpha motif
    smart00228
    Location:501592
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam05816
    Location:709853
    TelA; Toxic anion resistance protein (TelA)
  6. XM_017012404.1XP_016867893.1  neurabin-1 isoform X12

    Conserved Domains (5) summary
    cd09512
    Location:10251094
    SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily
    smart00454
    Location:10281092
    SAM; Sterile alpha motif
    smart00228
    Location:501592
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam05816
    Location:709853
    TelA; Toxic anion resistance protein (TelA)
    pfam15327
    Location:918960
    Tankyrase_bdg_C; Tankyrase binding protein C terminal domain
  7. XM_024446825.1XP_024302593.1  neurabin-1 isoform X13

    Conserved Domains (3) summary
    cd09512
    Location:10171086
    SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily
    smart00228
    Location:501592
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    cl25732
    Location:701940
    SMC_N; RecF/RecN/SMC N terminal domain
  8. XM_017012401.1XP_016867890.1  neurabin-1 isoform X9

  9. XM_011516389.1XP_011514691.1  neurabin-1 isoform X6

    See identical proteins and their annotated locations for XP_011514691.1

    Conserved Domains (5) summary
    cd09512
    Location:12361305
    SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily
    smart00454
    Location:12391303
    SAM; Sterile alpha motif
    smart00228
    Location:501592
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam05816
    Location:666810
    TelA; Toxic anion resistance protein (TelA)
    pfam15327
    Location:875923
    Tankyrase_bdg_C; Tankyrase binding protein C terminal domain
  10. XM_017012400.1XP_016867889.1  neurabin-1 isoform X8

    UniProtKB/TrEMBL
    A4D1I0
    Conserved Domains (5) summary
    cd09512
    Location:12061275
    SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily
    smart00454
    Location:12091273
    SAM; Sterile alpha motif
    smart00228
    Location:501592
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam05816
    Location:666810
    TelA; Toxic anion resistance protein (TelA)
    pfam15327
    Location:875923
    Tankyrase_bdg_C; Tankyrase binding protein C terminal domain
  11. XM_017012399.1XP_016867888.1  neurabin-1 isoform X7

  12. XM_017012403.1XP_016867892.1  neurabin-1 isoform X11

    UniProtKB/Swiss-Prot
    Q9ULJ8
    Conserved Domains (4) summary
    cd09512
    Location:11801249
    SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily
    smart00454
    Location:11831247
    SAM; Sterile alpha motif
    smart00228
    Location:501592
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam05816
    Location:666810
    TelA; Toxic anion resistance protein (TelA)
  13. XM_017012407.1XP_016867896.1  neurabin-1 isoform X15

    UniProtKB/TrEMBL
    B7ZLX4
    Conserved Domains (5) summary
    cd09512
    Location:9741043
    SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily
    smart00454
    Location:9771041
    SAM; Sterile alpha motif
    smart00228
    Location:501592
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam05816
    Location:666810
    TelA; Toxic anion resistance protein (TelA)
    pfam15327
    Location:875917
    Tankyrase_bdg_C; Tankyrase binding protein C terminal domain
  14. XM_017012402.1XP_016867891.1  neurabin-1 isoform X10

  15. XM_017012409.1XP_016867898.1  neurabin-1 isoform X17

  16. XM_017012410.2XP_016867899.1  neurabin-1 isoform X18

    Conserved Domains (4) summary
    cd09512
    Location:604673
    SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily
    smart00454
    Location:607671
    SAM; Sterile alpha motif
    pfam05816
    Location:62178
    TelA; Toxic anion resistance protein (TelA)
    pfam15327
    Location:243291
    Tankyrase_bdg_C; Tankyrase binding protein C terminal domain
  17. XM_017012406.1XP_016867895.1  neurabin-1 isoform X14

    UniProtKB/Swiss-Prot
    Q9ULJ8
    Conserved Domains (5) summary
    cd09512
    Location:9821051
    SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily
    smart00454
    Location:9851049
    SAM; Sterile alpha motif
    smart00228
    Location:501592
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam05816
    Location:666810
    TelA; Toxic anion resistance protein (TelA)
    pfam15327
    Location:875917
    Tankyrase_bdg_C; Tankyrase binding protein C terminal domain
  18. XM_011516382.2XP_011514684.1  neurabin-1 isoform X1

    See identical proteins and their annotated locations for XP_011514684.1

    Conserved Domains (5) summary
    cd09512
    Location:12791348
    SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily
    smart00454
    Location:12821346
    SAM; Sterile alpha motif
    smart00228
    Location:501592
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam05816
    Location:709853
    TelA; Toxic anion resistance protein (TelA)
    pfam15327
    Location:918966
    Tankyrase_bdg_C; Tankyrase binding protein C terminal domain
  19. XM_017012398.1XP_016867887.1  neurabin-1 isoform X6

    Conserved Domains (5) summary
    cd09512
    Location:12361305
    SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily
    smart00454
    Location:12391303
    SAM; Sterile alpha motif
    smart00228
    Location:501592
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam05816
    Location:666810
    TelA; Toxic anion resistance protein (TelA)
    pfam15327
    Location:875923
    Tankyrase_bdg_C; Tankyrase binding protein C terminal domain
  20. XM_011516380.1XP_011514682.1  neurabin-1 isoform X1

    See identical proteins and their annotated locations for XP_011514682.1

    Conserved Domains (5) summary
    cd09512
    Location:12791348
    SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily
    smart00454
    Location:12821346
    SAM; Sterile alpha motif
    smart00228
    Location:501592
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam05816
    Location:709853
    TelA; Toxic anion resistance protein (TelA)
    pfam15327
    Location:918966
    Tankyrase_bdg_C; Tankyrase binding protein C terminal domain
  21. XM_017012405.1XP_016867894.1  neurabin-1 isoform X14

    UniProtKB/Swiss-Prot
    Q9ULJ8
    Related
    ENSP00000398870.1, ENST00000433881.5
    Conserved Domains (5) summary
    cd09512
    Location:9821051
    SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily
    smart00454
    Location:9851049
    SAM; Sterile alpha motif
    smart00228
    Location:501592
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam05816
    Location:666810
    TelA; Toxic anion resistance protein (TelA)
    pfam15327
    Location:875917
    Tankyrase_bdg_C; Tankyrase binding protein C terminal domain
  22. XM_017012396.1XP_016867885.1  neurabin-1 isoform X4

  23. XM_017012408.1XP_016867897.1  neurabin-1 isoform X16

  24. XM_017012411.2XP_016867900.1  neurabin-1 isoform X19

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