Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
89801
Gene name Gene Name - the full gene name approved by the HGNC.
Protein phosphatase 1 regulatory subunit 3F
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PPP1R3F
Synonyms (NCBI Gene) Gene synonyms aliases
HB2E, LL0XNC01-7P3.1, R3F
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp11.23
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein that has been identified as one of several type-1 protein phosphatase (PP1) regulatory subunits. One or two of these subunits, together with the well-conserved catalytic subunit, can form the PP1 holoenzyme, where the regulator
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT720055 hsa-miR-548n HITS-CLIP 19536157
MIRT720054 hsa-miR-548az-5p HITS-CLIP 19536157
MIRT720053 hsa-miR-548t-5p HITS-CLIP 19536157
MIRT720051 hsa-miR-6777-3p HITS-CLIP 19536157
MIRT720052 hsa-miR-6887-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000164 Component Protein phosphatase type 1 complex IBA
GO:0005979 Process Regulation of glycogen biosynthetic process IBA
GO:0005979 Process Regulation of glycogen biosynthetic process IDA 21668450
GO:0008157 Function Protein phosphatase 1 binding IBA
GO:0016020 Component Membrane IDA 21668450
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
301104 14944 ENSG00000049769
Protein
UniProt ID Q6ZSY5
Protein name Protein phosphatase 1 regulatory subunit 3F (R3F)
Protein function Glycogen-targeting subunit for protein phosphatase 1 (PP1).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03370 CBM_21 151 284 Carbohydrate/starch-binding module (family 21) Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in brain, skeletal muscle and heart. {ECO:0000269|PubMed:21668450}.
Sequence
MARTAPVEPPLRHSAPPSPAAGEPRTSVEAAVAPRRVLFADEALGLPLAQLRRYRPWGGP
GAGKMAAAAGQDGGGGGGADEDDDGEDGDEGEEEEEACPEPSPLCPVPAGGGFYLVPTFS
LPPAPGRLERLGRVMVELEALLPPPGAVPGGAGVWVPGGRPPVLRGLVRVLNRSFEKAVH
VRASHDGWASFCDHPARYVPRSPPWAGAGGTGAGDPILDPGLGLGPGQASASSPDDGGRT
DRFAFQLPFAEGAGDGARLDFVVRYETPEGTFWANNHGRNYTVL
LRIAPAPTPTDAEGLP
QQQQLPQLEPQPECQGPVEAEARQLKSCMKPVRRRPAEEELKTKNMDDNTFAMAEHPDVQ
ESVGPLVAPTPLRPWPQMTLQVSDVPMTGNPAEEGDVPRSSPPVAFTEVLQAPAIRIPPS
SPLCGLGGSPRDQASGPDASEGATGPFLEPSQQQAEATWGVSSENGGGLEAVSGSEELLG
EDTIDQELEQLYLSHLSRLRAAVAAGGAGGGGEGSTDGGMSPSHPLGILTDRDLILKWPG
PERALNSALAEEITLHYARLGRGVELIKDTEDPDDEGEGEEGLSVTPSSPEGDSPKESPP
EILSGARSVVATMGDVWLPWAEGSGCDGPVVLGTEGQFIGDPEKGMGKDTSSLHMNRVIA
GVTESLGEAGTEAQIEVTSEWAGSLDPISGKEPASPVLLQGQNPTLLSPLGAEVCLSSVA
RPHVSSQDEKDAGPSLEPPKKSPTLAVPAECVCALPPQLRGPLTQTLGVLAGLVVVPVAL
NSGVSLLVLALCLSLAWFS
Sequence length 799
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Insulin signaling pathway  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma (childhood onset), Asthma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Astrocytoma Associate 37531237
Autism Spectrum Disorder Associate 30016992, 37531237
Autistic Disorder Associate 37531237
Cerebellar Diseases Associate 37531237
Colorectal Neoplasms Stimulate 34145793
Developmental Disabilities Associate 37531237
Intellectual Disability Associate 37531237
Mental Retardation X Linked Associate 37531237
Metabolic Syndrome Associate 37531237
Seizures Associate 37531237