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

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: mouse all
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Genomic context

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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hyper-N-glycosylated SAMD14 and neurabin-I as driver autoantigens of primary central nervous system lymphoma.
Title: Hyper-<i>N</i>-glycosylated SAMD14 and neurabin-I as driver autoantigens of primary central nervous system lymphoma.
MARCKS and PPP1R9A might contribute to spine loss in schizophrenia and bipolar disorder through their interactions.
Title: Altered prefrontal cortical MARCKS and PPP1R9A mRNA expression in schizophrenia and bipolar disorder.
CHN2, ABCB1 and PPP1R9A expression on chromosome 7 is implicated in the pathogenesis of hepatosplenic T-cell lymphoma distinguishing it from other malignancies.
Title: Integrative genomic and transcriptomic analysis identified candidate genes implicated in the pathogenesis of hepatosplenic T-cell lymphoma.
Studies suggest that any change in substrate specificity of the spinophilin : PP1 holoenzyme complex was probably due to direct modification of a PP1 substrate binding surface.
Title: Structural basis for protein phosphatase 1 regulation and specificity.
PPP1R9A gene is imprinted, with preferential expression from the maternal allele in embryonic skeletal muscle and extra-embryonic tissues, but biallelic expression in other embryonic tissues.
Title: Genomic imprinting of PPP1R9A encoding neurabin I in skeletal muscle and extra-embryonic tissues.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A009D19 (e-PCR)
- UniSTS:3595

D7S2160E (e-PCR)
- UniSTS:22540

RH12399 (e-PCR)
- UniSTS:62749

G32444 (e-PCR)
- UniSTS:117030

L17990 (e-PCR)
- UniSTS:59189

MARC_16745-16746:1020448619:1 (e-PCR)
- UniSTS:268097

RH122684 (e-PCR)
- UniSTS:133962

D7S1489 (e-PCR)
- UniSTS:149069

PPP1R9A_3181 (e-PCR)
- UniSTS:462447

RH45602 (e-PCR)
- UniSTS:11122

SHGC-80734 (e-PCR)
- UniSTS:102267

SHGC-81053 (e-PCR)
- UniSTS:103570

D7S2388E (e-PCR)
- UniSTS:34457

RH118529 (e-PCR)
- UniSTS:137927

D17S2137 (e-PCR)
- UniSTS:53713

RH98568 (e-PCR)
- UniSTS:84438

RH11976 (e-PCR)
- UniSTS:79852

D7S1489 (e-PCR)
- UniSTS:39160

Homology

Homologs of the PPP1R9A gene: The PPP1R9A gene is conserved in chimpanzee, Rhesus monkey, dog, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 463 organisms have orthologs with human gene PPP1R9A
Orthologs

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

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Preferred Names: neurabin-1

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

NCBI Reference Sequences (RefSeq)

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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

NG_015803.1 RefSeqGene

Range

4958..393764

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001166160.2 → NP_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:1258 → 1327

SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily

smart00454
Location:1261 → 1325

SAM; Sterile alpha motif

smart00228
Location:501 → 592

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

pfam05816
Location:688 → 832

TelA; Toxic anion resistance protein (TelA)

pfam15327
Location:897 → 945

Tankyrase_bdg_C; Tankyrase binding protein C terminal domain
NM_001166161.1 → NP_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:1180 → 1249

SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily

smart00454
Location:1183 → 1247

SAM; Sterile alpha motif

smart00228
Location:501 → 592

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

pfam05816
Location:666 → 810

TelA; Toxic anion resistance protein (TelA)
NM_001166162.1 → NP_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:501 → 592

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

pfam05816
Location:666 → 810

TelA; Toxic anion resistance protein (TelA)

pfam15327
Location:875 → 923

Tankyrase_bdg_C; Tankyrase binding protein C terminal domain

cl15755
Location:1174 → 1206

SAM_superfamily; SAM (Sterile alpha motif )
NM_001166163.1 → NP_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:974 → 1043

SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily

smart00454
Location:977 → 1041

SAM; Sterile alpha motif

smart00228
Location:501 → 592

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

pfam05816
Location:666 → 810

TelA; Toxic anion resistance protein (TelA)

pfam15327
Location:875 → 917

Tankyrase_bdg_C; Tankyrase binding protein C terminal domain
NM_017650.3 → NP_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:982 → 1051

SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily

smart00454
Location:985 → 1049

SAM; Sterile alpha motif

smart00228
Location:501 → 592

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

pfam05816
Location:666 → 810

TelA; Toxic anion resistance protein (TelA)

pfam15327
Location:875 → 917

Tankyrase_bdg_C; Tankyrase binding protein C terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

94907236..95296415

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047420574.1 → XP_047276530.1 neurabin-1 isoform X1
XM_047420585.1 → XP_047276541.1 neurabin-1 isoform X11
XM_047420580.1 → XP_047276536.1 neurabin-1 isoform X6
XM_047420589.1 → XP_047276545.1 neurabin-1 isoform X15

UniProtKB/TrEMBL

D6W5R0
XM_047420594.1 → XP_047276550.1 neurabin-1 isoform X21

UniProtKB/TrEMBL

B7ZLX4
XM_047420573.1 → XP_047276529.1 neurabin-1 isoform X1
XM_011516381.2 → XP_011514683.1 neurabin-1 isoform X2

See identical proteins and their annotated locations for XP_011514683.1

Conserved Domains (5) summary

cd09512
Location:1279 → 1348

SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily

smart00454
Location:1282 → 1346

SAM; Sterile alpha motif

smart00228
Location:501 → 592

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

pfam05816
Location:709 → 853

TelA; Toxic anion resistance protein (TelA)

pfam15327
Location:918 → 966

Tankyrase_bdg_C; Tankyrase binding protein C terminal domain
XM_017012395.2 → XP_016867884.1 neurabin-1 isoform X5

Conserved Domains (5) summary

cd09512
Location:1249 → 1318

SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily

smart00454
Location:1252 → 1316

SAM; Sterile alpha motif

smart00228
Location:501 → 592

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

pfam05816
Location:709 → 853

TelA; Toxic anion resistance protein (TelA)

pfam15327
Location:918 → 966

Tankyrase_bdg_C; Tankyrase binding protein C terminal domain
XM_017012397.2 → XP_016867886.1 neurabin-1 isoform X7

Conserved Domains (5) summary

cd09512
Location:1241 → 1310

SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily

smart00454
Location:1244 → 1308

SAM; Sterile alpha motif

smart00228
Location:501 → 592

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

pfam05816
Location:709 → 853

TelA; Toxic anion resistance protein (TelA)

pfam15327
Location:918 → 966

Tankyrase_bdg_C; Tankyrase binding protein C terminal domain
XM_047420576.1 → XP_047276532.1 neurabin-1 isoform X3
XM_047420583.1 → XP_047276539.1 neurabin-1 isoform X10
XM_017012404.2 → XP_016867893.1 neurabin-1 isoform X18

Conserved Domains (5) summary

cd09512
Location:1025 → 1094

SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily

smart00454
Location:1028 → 1092

SAM; Sterile alpha motif

smart00228
Location:501 → 592

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

pfam05816
Location:709 → 853

TelA; Toxic anion resistance protein (TelA)

pfam15327
Location:918 → 960

Tankyrase_bdg_C; Tankyrase binding protein C terminal domain
XM_024446825.2 → XP_024302593.1 neurabin-1 isoform X19

Conserved Domains (3) summary

cd09512
Location:1017 → 1086

SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily

smart00228
Location:501 → 592

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cl25732
Location:701 → 940

SMC_N; RecF/RecN/SMC N terminal domain
XM_047420577.1 → XP_047276533.1 neurabin-1 isoform X4
XM_017012401.2 → XP_016867890.1 neurabin-1 isoform X14
XM_047420579.1 → XP_047276535.1 neurabin-1 isoform X6
XM_011516389.2 → XP_011514691.1 neurabin-1 isoform X8

See identical proteins and their annotated locations for XP_011514691.1

Conserved Domains (5) summary

cd09512
Location:1236 → 1305

SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily

smart00454
Location:1239 → 1303

SAM; Sterile alpha motif

smart00228
Location:501 → 592

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

pfam05816
Location:666 → 810

TelA; Toxic anion resistance protein (TelA)

pfam15327
Location:875 → 923

Tankyrase_bdg_C; Tankyrase binding protein C terminal domain
XM_017012400.2 → XP_016867889.1 neurabin-1 isoform X13

UniProtKB/TrEMBL

A4D1I0

Conserved Domains (5) summary

cd09512
Location:1206 → 1275

SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily

smart00454
Location:1209 → 1273

SAM; Sterile alpha motif

smart00228
Location:501 → 592

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

pfam05816
Location:666 → 810

TelA; Toxic anion resistance protein (TelA)

pfam15327
Location:875 → 923

Tankyrase_bdg_C; Tankyrase binding protein C terminal domain
XM_047420587.1 → XP_047276543.1 neurabin-1 isoform X15

UniProtKB/TrEMBL

D6W5R0
XM_017012399.2 → XP_016867888.1 neurabin-1 isoform X9
XM_047420586.1 → XP_047276542.1 neurabin-1 isoform X12
XM_017012402.2 → XP_016867891.1 neurabin-1 isoform X16
XM_017012403.2 → XP_016867892.1 neurabin-1 isoform X17

UniProtKB/Swiss-Prot

Q9ULJ8

Conserved Domains (4) summary

cd09512
Location:1180 → 1249

SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily

smart00454
Location:1183 → 1247

SAM; Sterile alpha motif

smart00228
Location:501 → 592

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

pfam05816
Location:666 → 810

TelA; Toxic anion resistance protein (TelA)
XM_017012407.2 → XP_016867896.1 neurabin-1 isoform X21

UniProtKB/TrEMBL

B7ZLX4

Conserved Domains (5) summary

cd09512
Location:974 → 1043

SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily

smart00454
Location:977 → 1041

SAM; Sterile alpha motif

smart00228
Location:501 → 592

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

pfam05816
Location:666 → 810

TelA; Toxic anion resistance protein (TelA)

pfam15327
Location:875 → 917

Tankyrase_bdg_C; Tankyrase binding protein C terminal domain
XM_017012409.2 → XP_016867898.1 neurabin-1 isoform X23
XM_047420598.1 → XP_047276554.1 neurabin-1 isoform X26
XM_047420575.1 → XP_047276531.1 neurabin-1 isoform X1
XM_047420581.1 → XP_047276537.1 neurabin-1 isoform X6
XM_047420590.1 → XP_047276546.1 neurabin-1 isoform X15

UniProtKB/TrEMBL

D6W5R0
XM_017012406.2 → XP_016867895.1 neurabin-1 isoform X20

UniProtKB/Swiss-Prot

Q9NXT2, Q9ULJ8

Conserved Domains (5) summary

cd09512
Location:982 → 1051

SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily

smart00454
Location:985 → 1049

SAM; Sterile alpha motif

smart00228
Location:501 → 592

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

pfam05816
Location:666 → 810

TelA; Toxic anion resistance protein (TelA)

pfam15327
Location:875 → 917

Tankyrase_bdg_C; Tankyrase binding protein C terminal domain
XM_047420584.1 → XP_047276540.1 neurabin-1 isoform X11
XM_017012396.2 → XP_016867885.1 neurabin-1 isoform X6
XM_047420588.1 → XP_047276544.1 neurabin-1 isoform X15

UniProtKB/TrEMBL

D6W5R0
XM_047420591.1 → XP_047276547.1 neurabin-1 isoform X16
XM_047420592.1 → XP_047276548.1 neurabin-1 isoform X17
XM_017012405.2 → XP_016867894.1 neurabin-1 isoform X20

UniProtKB/Swiss-Prot

Q9NXT2, Q9ULJ8

Related

ENSP00000398870.1, ENST00000433881.5

Conserved Domains (5) summary

cd09512
Location:982 → 1051

SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily

smart00454
Location:985 → 1049

SAM; Sterile alpha motif

smart00228
Location:501 → 592

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

pfam05816
Location:666 → 810

TelA; Toxic anion resistance protein (TelA)

pfam15327
Location:875 → 917

Tankyrase_bdg_C; Tankyrase binding protein C terminal domain
XM_047420593.1 → XP_047276549.1 neurabin-1 isoform X21

UniProtKB/TrEMBL

B7ZLX4
XM_047420599.1 → XP_047276555.1 neurabin-1 isoform X26
XM_047420595.1 → XP_047276551.1 neurabin-1 isoform X22
XM_047420596.1 → XP_047276552.1 neurabin-1 isoform X24
XM_047420600.1 → XP_047276556.1 neurabin-1 isoform X27
XM_047420597.1 → XP_047276553.1 neurabin-1 isoform X25