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

Gene ID: 55607, updated on 6-Nov-2022

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; AllianceGenome:HGNC:14946
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
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Genomic context

See PPP1R9A in Genome Data Viewer
Location:
7q21.3
Exon count:
29
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (94907236..95296415)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (96143461..96532571)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (94536906..94925727)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 3394 Neighboring gene ADP ribosylation factor 1 pseudogene 1 Neighboring gene PPP1R9A antisense RNA 1 Neighboring gene histidine triad nucleotide binding protein 1 pseudogene 2 Neighboring gene RNA, U4 small nuclear 16, pseudogene Neighboring gene small nucleolar RNA U13 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 Functions

What'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

Pathways from PubChem

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
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in actin filament organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in calcium-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in modulation of chemical synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
involved_in neuron projection development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cortical actin cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in dendrite IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in dendritic spine IEA
Inferred from Electronic Annotation
more info
 
located_in filopodium IEA
Inferred from Electronic Annotation
more info
 
is_active_in 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)

NEW Try the new Transcript table

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
    4958..393764
    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, ENST00000433360.6
    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_017650.3NP_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
    Q9NXT2, 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 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    94907236..95296415
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047420574.1XP_047276530.1  neurabin-1 isoform X1

  2. XM_047420585.1XP_047276541.1  neurabin-1 isoform X11

  3. XM_047420580.1XP_047276536.1  neurabin-1 isoform X6

  4. XM_047420589.1XP_047276545.1  neurabin-1 isoform X15

    UniProtKB/TrEMBL
    D6W5R0
  5. XM_047420594.1XP_047276550.1  neurabin-1 isoform X21

    UniProtKB/TrEMBL
    B7ZLX4
  6. XM_047420573.1XP_047276529.1  neurabin-1 isoform X1

  7. XM_011516381.2XP_011514683.1  neurabin-1 isoform X2

    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
  8. XM_017012395.2XP_016867884.1  neurabin-1 isoform X5

    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
  9. XM_017012397.2XP_016867886.1  neurabin-1 isoform X7

    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
  10. XM_047420576.1XP_047276532.1  neurabin-1 isoform X3

  11. XM_047420583.1XP_047276539.1  neurabin-1 isoform X10

  12. XM_017012404.2XP_016867893.1  neurabin-1 isoform X18

    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
  13. XM_024446825.2XP_024302593.1  neurabin-1 isoform X19

    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
  14. XM_047420577.1XP_047276533.1  neurabin-1 isoform X4

  15. XM_017012401.2XP_016867890.1  neurabin-1 isoform X14

  16. XM_047420579.1XP_047276535.1  neurabin-1 isoform X6

  17. XM_011516389.2XP_011514691.1  neurabin-1 isoform X8

    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
  18. XM_017012400.2XP_016867889.1  neurabin-1 isoform X13

    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
  19. XM_047420587.1XP_047276543.1  neurabin-1 isoform X15

    UniProtKB/TrEMBL
    D6W5R0
  20. XM_017012399.2XP_016867888.1  neurabin-1 isoform X9

  21. XM_047420586.1XP_047276542.1  neurabin-1 isoform X12

  22. XM_017012402.2XP_016867891.1  neurabin-1 isoform X16

  23. XM_017012403.2XP_016867892.1  neurabin-1 isoform X17

    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)
  24. XM_017012407.2XP_016867896.1  neurabin-1 isoform X21

    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
  25. XM_017012409.2XP_016867898.1  neurabin-1 isoform X23

  26. XM_047420598.1XP_047276554.1  neurabin-1 isoform X26

  27. XM_047420575.1XP_047276531.1  neurabin-1 isoform X1

  28. XM_047420581.1XP_047276537.1  neurabin-1 isoform X6

  29. XM_047420590.1XP_047276546.1  neurabin-1 isoform X15

    UniProtKB/TrEMBL
    D6W5R0
  30. XM_017012406.2XP_016867895.1  neurabin-1 isoform X20

    UniProtKB/Swiss-Prot
    Q9NXT2, 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
  31. XM_047420584.1XP_047276540.1  neurabin-1 isoform X11

  32. XM_017012396.2XP_016867885.1  neurabin-1 isoform X6

  33. XM_047420588.1XP_047276544.1  neurabin-1 isoform X15

    UniProtKB/TrEMBL
    D6W5R0
  34. XM_047420591.1XP_047276547.1  neurabin-1 isoform X16

  35. XM_047420592.1XP_047276548.1  neurabin-1 isoform X17

  36. XM_017012405.2XP_016867894.1  neurabin-1 isoform X20

    UniProtKB/Swiss-Prot
    Q9NXT2, 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
  37. XM_047420593.1XP_047276549.1  neurabin-1 isoform X21

    UniProtKB/TrEMBL
    B7ZLX4
  38. XM_047420599.1XP_047276555.1  neurabin-1 isoform X26

  39. XM_047420595.1XP_047276551.1  neurabin-1 isoform X22

  40. XM_047420596.1XP_047276552.1  neurabin-1 isoform X24

  41. XM_047420600.1XP_047276556.1  neurabin-1 isoform X27

  42. XM_047420597.1XP_047276553.1  neurabin-1 isoform X25

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    96143461..96532571
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)