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SH3RF2 SH3 domain containing ring finger 2 [ Homo sapiens (human) ]

Gene ID: 153769, updated on 3-Apr-2024

Summary

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Official Symbol
SH3RF2provided by HGNC
Official Full Name
SH3 domain containing ring finger 2provided by HGNC
Primary source
HGNC:HGNC:26299
See related
Ensembl:ENSG00000156463 MIM:613377; AllianceGenome:HGNC:26299
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HEPP1; POSHER; RNF158; PPP1R39
Summary
Enables protein phosphatase 1 binding activity and ubiquitin protein ligase activity. Involved in several processes, including positive regulation of JNK cascade; protein autoubiquitination; and regulation of cellular protein metabolic process. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in skin (RPKM 22.7), testis (RPKM 19.4) and 12 other tissues See more
Orthologs
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Genomic context

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Location:
5q32
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (145936578..146081773)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (146470962..146616058)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (145316141..145442855)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene PRELI domain containing 2 Neighboring gene TRPC6 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16487 Neighboring gene CRISPRi-validated cis-regulatory element chr5.3602 Neighboring gene uncharacterized LOC107986458 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:145315879-145316456 Neighboring gene glutaredoxin and cysteine rich domain containing 2 Neighboring gene MPRA-validated peak5514 silencer Neighboring gene Sharpr-MPRA regulatory region 2549 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80964 Neighboring gene apolipoprotein O like pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80983 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:145405605-145406400 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:145406401-145407194 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:145407216-145408415 Neighboring gene uncharacterized LOC107986459 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:145428236-145428736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23358 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr5:145452250-145453204 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr5:145453205-145454157 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_81045 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_81119 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:145481092-145481650 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_81180 Neighboring gene MPRA-validated peak5518 silencer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_81226 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_81266 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_81335 Neighboring gene PLAC8 like 1 Neighboring gene ribosomal protein L35a pseudogene 16 Neighboring gene leucyl-tRNA synthetase 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Assessing the role of SH3RF1 and SH3RF2 polymorphisms in susceptibility to tuberculosis: A case-control study in the Han Chinese population. Chen H, et al. Microb Pathog, 2021 Mar. PMID 33129950
  2. FLJ23654 encodes a heart protein phosphatase 1-binding protein (Hepp1). Chen CY, et al. Biochem Biophys Res Commun, 2010 Jan 1. PMID 19945436
  3. Hepatocyte SH3RF2 Deficiency Is a Key Aggravator for NAFLD. Yang X, et al. Hepatology, 2021 Sep. PMID 33894019
  4. Sh3rf2/POSHER protein promotes cell survival by ring-mediated proteasomal degradation of the c-Jun N-terminal kinase scaffold POSH (Plenty of SH3s) protein. Wilhelm M, et al. J Biol Chem, 2012 Jan 13. PMID 22128169, Free PMC Article
  5. Enoyl-CoA hydratase-1 regulates mTOR signaling and apoptosis by sensing nutrients. Zhang YK, et al. Nat Commun, 2017 Sep 6. PMID 28878358, Free PMC Article

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. SH3RF2 contributes to cisplatin resistance in ovarian cancer cells by promoting RBPMS degradation.
    Title: SH3RF2 contributes to cisplatin resistance in ovarian cancer cells by promoting RBPMS degradation.
  2. Hepatocyte SH3RF2 Deficiency Is a Key Aggravator for NAFLD.
    Title: Hepatocyte SH3RF2 Deficiency Is a Key Aggravator for NAFLD.
  3. Assessing the role of SH3RF1 and SH3RF2 polymorphisms in susceptibility to tuberculosis: A case-control study in the Han Chinese population.
    Title: Assessing the role of SH3RF1 and SH3RF2 polymorphisms in susceptibility to tuberculosis: A case-control study in the Han Chinese population.
  4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  5. the novel protein heart protein phosphatase 1-binding protein (Hepp1), encoded by FLJ23654, was identified.Hepp1 can play a role in cardiac functions by working in concert with PP1.
    Title: FLJ23654 encodes a heart protein phosphatase 1-binding protein (Hepp1).
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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ23654, MGC90410, MGC149788, MGC149789

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables phosphatase binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein phosphatase 1 binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein phosphatase 1 binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein phosphatase inhibitor activity IEA
Inferred from Electronic Annotation
more info
  
enables ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ubiquitin protein ligase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of JNK cascade ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of protein ubiquitination IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of JNK cascade IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of JNK cascade IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein autoubiquitination IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
E3 ubiquitin-protein ligase SH3RF2
Names
POSH-eliminating RING protein
RING finger protein 158
RING-type E3 ubiquitin transferase SH3RF2
SH3 domain-containing RING finger protein 2
heart protein phosphatase 1-binding protein
phosphatase 1 binding protein
protein phosphatase 1 regulatory subunit 39
putative E3 ubiquitin-protein ligase SH3RF2
NP_689763.4
XP_006714820.1
XP_011535869.1
XP_011535870.1
XP_016864625.1
XP_054207824.1
XP_054207825.1
XP_054207826.1
XP_054207827.1

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.

mRNA and Protein(s)

  1. NM_152550.4 → NP_689763.4  E3 ubiquitin-protein ligase SH3RF2

    Status: VALIDATED

    Source sequence(s)
    AC005216, AC005351, AC011359, AC091887
    Consensus CDS
    CCDS4280.1
    UniProtKB/Swiss-Prot
    A8K961, Q08AM9, Q6GMR9, Q8N5S8, Q8TEC5, Q96LP8
    UniProtKB/TrEMBL
    Q08AM8
    Related
    ENSP00000352028.4, ENST00000359120.9
    Conserved Domains (4) summary
    cd11784
    Location:384 → 438
    SH3_SH3RF2_3; Third Src Homology 3 domain of SH3 domain containing ring finger 2
    cd11929
    Location:128 → 181
    SH3_SH3RF2_1; First Src Homology 3 domain of SH3 domain containing ring finger 2
    cd11932
    Location:191 → 247
    SH3_SH3RF2_2; Second Src Homology 3 domain of SH3 domain containing ring finger 2
    cd16749
    Location:11 → 55
    RING-HC_SH3RF2; RING finger, HC subclass, found in SH3 domain-containing RING finger protein 2 (SH3RF2) and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    145936578..146081773
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714757.2 → XP_006714820.1  E3 ubiquitin-protein ligase SH3RF2 isoform X2

    See identical proteins and their annotated locations for XP_006714820.1

    UniProtKB/Swiss-Prot
    A8K961, Q08AM9, Q6GMR9, Q8N5S8, Q8TEC5, Q96LP8
    UniProtKB/TrEMBL
    Q08AM8
    Conserved Domains (4) summary
    cd11784
    Location:384 → 438
    SH3_SH3RF2_3; Third Src Homology 3 domain of SH3 domain containing ring finger 2
    cd11929
    Location:128 → 181
    SH3_SH3RF2_1; First Src Homology 3 domain of SH3 domain containing ring finger 2
    cd11932
    Location:191 → 247
    SH3_SH3RF2_2; Second Src Homology 3 domain of SH3 domain containing ring finger 2
    cd16749
    Location:11 → 55
    RING-HC_SH3RF2; RING finger, HC subclass, found in SH3 domain-containing RING finger protein 2 (SH3RF2) and similar proteins

  2. XM_011537568.3 → XP_011535870.1  E3 ubiquitin-protein ligase SH3RF2 isoform X1

    See identical proteins and their annotated locations for XP_011535870.1

    UniProtKB/TrEMBL
    Q08AM8
    Conserved Domains (4) summary
    cd11784
    Location:384 → 438
    SH3_SH3RF2_3; Third Src Homology 3 domain of SH3 domain containing ring finger 2
    cd11929
    Location:128 → 181
    SH3_SH3RF2_1; First Src Homology 3 domain of SH3 domain containing ring finger 2
    cd11932
    Location:191 → 247
    SH3_SH3RF2_2; Second Src Homology 3 domain of SH3 domain containing ring finger 2
    cd16749
    Location:11 → 55
    RING-HC_SH3RF2; RING finger, HC subclass, found in SH3 domain-containing RING finger protein 2 (SH3RF2) and similar proteins

  3. XM_017009136.2 → XP_016864625.1  E3 ubiquitin-protein ligase SH3RF2 isoform X2

    UniProtKB/Swiss-Prot
    A8K961, Q08AM9, Q6GMR9, Q8N5S8, Q8TEC5, Q96LP8
    UniProtKB/TrEMBL
    Q08AM8
    Related
    ENSP00000424497.1, ENST00000511217.1
    Conserved Domains (4) summary
    cd11784
    Location:384 → 438
    SH3_SH3RF2_3; Third Src Homology 3 domain of SH3 domain containing ring finger 2
    cd11929
    Location:128 → 181
    SH3_SH3RF2_1; First Src Homology 3 domain of SH3 domain containing ring finger 2
    cd11932
    Location:191 → 247
    SH3_SH3RF2_2; Second Src Homology 3 domain of SH3 domain containing ring finger 2
    cd16749
    Location:11 → 55
    RING-HC_SH3RF2; RING finger, HC subclass, found in SH3 domain-containing RING finger protein 2 (SH3RF2) and similar proteins

  4. XM_011537567.3 → XP_011535869.1  E3 ubiquitin-protein ligase SH3RF2 isoform X1

    See identical proteins and their annotated locations for XP_011535869.1

    UniProtKB/TrEMBL
    Q08AM8
    Conserved Domains (4) summary
    cd11784
    Location:384 → 438
    SH3_SH3RF2_3; Third Src Homology 3 domain of SH3 domain containing ring finger 2
    cd11929
    Location:128 → 181
    SH3_SH3RF2_1; First Src Homology 3 domain of SH3 domain containing ring finger 2
    cd11932
    Location:191 → 247
    SH3_SH3RF2_2; Second Src Homology 3 domain of SH3 domain containing ring finger 2
    cd16749
    Location:11 → 55
    RING-HC_SH3RF2; RING finger, HC subclass, found in SH3 domain-containing RING finger protein 2 (SH3RF2) and similar proteins

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    146470962..146616058
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054351851.1 → XP_054207826.1  E3 ubiquitin-protein ligase SH3RF2 isoform X2

  2. XM_054351850.1 → XP_054207825.1  E3 ubiquitin-protein ligase SH3RF2 isoform X1

  3. XM_054351852.1 → XP_054207827.1  E3 ubiquitin-protein ligase SH3RF2 isoform X2

  4. XM_054351849.1 → XP_054207824.1  E3 ubiquitin-protein ligase SH3RF2 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TEC5.3 GenPept UniProtKB/Swiss-Prot:Q8TEC5

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