SH3RF1 SH3 domain containing ring finger 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SH3RF1provided by HGNC
Official Full Name: SH3 domain containing ring finger 1provided by HGNC
Primary source: HGNC:HGNC:17650
See related: Ensembl:ENSG00000154447 MIM:618642; AllianceGenome:HGNC:17650
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: POSH; RNF142; SH3MD2
Summary: This gene encodes a protein containing an N-terminus RING-finger, four SH3 domains, and a region implicated in binding of the Rho GTPase Rac. Via the RING-finger, the encoded protein has been shown to function as an ubiquitin-protein ligase involved in protein sorting at the trans-Golgi network. The encoded protein may also act as a scaffold for the c-Jun N-terminal kinase signaling pathway, facilitating the formation of a functional signaling module. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in thyroid (RPKM 11.9), stomach (RPKM 11.2) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q32.3-q33

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (169094259..169270956, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (172453905..172630687, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (170015410..170192107, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

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.
These results show that POSH plays a critical role in the progression of epileptic seizures via N-methyl-D-aspartate receptor trafficking
Title: POSH participates in epileptogenesis by increasing the surface expression of the NMDA receptor: a promising therapeutic target for epilepsy.
Data show that the two N-terminal SH3 domains of SH3 domain containing ring finger 1 (SH3RF1) protein interact with FAT1 protein.
Title: Protein interaction screening identifies SH3RF1 as a new regulator of FAT1 protein levels.
We found a genome-wide significant association for rs2282987 in CDK6 and a consistent association for rs2706748 in SH3RF1 .
Title: Imputation-based association analyses identify new lung cancer susceptibility variants in CDK6 and SH3RF1 and their interactions with smoking in Chinese populations.
The data presented here define POSH and Siah2 as important mediators of death receptor mediated apoptosis and suggest targeting the interaction of these two E3 ligases is a promising novel cancer therapeutic strategy.
Title: Possible role of death receptor-mediated apoptosis by the E3 ubiquitin ligases Siah2 and POSH.
POSH promotes cell survival in Drosophila and in human rheumatoid arthritis synovial fibroblasts
Title: POSH promotes cell survival in Drosophila and in human RASF cells.
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.
POSH inhibits ROMK channels by enhancing dynamin-dependent and clathrin-independent endocytosis and by stimulating ubiquitination of ROMK channels.
Title: POSH stimulates the ubiquitination and the clathrin-independent endocytosis of ROMK1 channels.
Results identified ALIX as an ubiquitination substrate of POSH and indicate that POSH and ALIX cooperate to facilitate efficient virus release.
Title: Exploring the functional interaction between POSH and ALIX and the relevance to HIV-1 release.
POSH disassociates from the JNK complex after phosphorylation of MLK3 by Akt2, which leads to down-regulation of the JNK signaling pathway
Title: Akt2 negatively regulates assembly of the POSH-MLK-JNK signaling complex.

Submit: New GeneRIF Correction See all GeneRIFs (12)

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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Pr55(Gag)	gag	ALIX is an ubiquitination substrate of the ubiquitin E3-ligase POSH and POSH and ALIX cooperate to facilitate efficient HIV-1 release, suggesting the interaction between HIV-1 Gag and POSH and POSH may be functionally auxiliary for viral release	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-82499 (e-PCR)
- UniSTS:104451

RH102438 (e-PCR)
- UniSTS:96772

RH123053 (e-PCR)
- UniSTS:135446

SHGC-67757 (e-PCR)
- UniSTS:72253

SHGC-24796 (e-PCR)
- UniSTS:11388

RH122611 (e-PCR)
- UniSTS:135056

D4S2770E (e-PCR)
- UniSTS:153746

G33624 (e-PCR)
- UniSTS:23718

RH92786 (e-PCR)
- UniSTS:90025

D4S3122 (e-PCR)
- UniSTS:27589

D4S2840 (e-PCR)
- UniSTS:33497

RH123022 (e-PCR)
- UniSTS:135413

D4S516 (e-PCR)
- UniSTS:70646

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables MAP-kinase scaffold activity	ISS Inferred from Sequence or Structural Similarity more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
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 MAPK cascade	IEA Inferred from Electronic Annotation 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 cysteine-type endopeptidase activity involved in apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of extrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of JNK cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of JNK cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
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
involved_in regulation of CD4-positive, alpha-beta T cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of CD8-positive, alpha-beta T cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to aldosterone	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in lamellipodium	ISS Inferred from Sequence or Structural Similarity more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: E3 ubiquitin-protein ligase SH3RF1

Names: RING-type E3 ubiquitin transferase SH3RF1; SH3 domain-containing RING finger protein 1; SH3 multiple domains 2; SH3 multiple domains protein 2; plenty of SH3 domains; plenty of SH3s; putative E3 ubiquitin-protein ligase SH3RF1; ring finger protein 142

NP_065921.2

EC 2.3.2.27

XP_054206589.1

EC 2.3.2.27

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)

NM_020870.4 → NP_065921.2 E3 ubiquitin-protein ligase SH3RF1

See identical proteins and their annotated locations for NP_065921.2

Status: REVIEWED

Source sequence(s)

AC021151, AC096741, AC104783

Consensus CDS

CCDS34099.1

UniProtKB/Swiss-Prot

Q05BT2, Q7Z6J0, Q8IW46, Q9HAM2, Q9P234

Related

ENSP00000284637.9, ENST00000284637.14

Conserved Domains (5) summary

cd11785
Location:833 → 887

SH3_SH3RF_C; C-terminal (Fourth) Src Homology 3 domain of SH3 domain containing ring finger 1 (SH3RF1), SH3RF3, and similar domains

cd11926
Location:449 → 503

SH3_SH3RF1_3; Third Src Homology 3 domain of SH3 domain containing ring finger 1, an E3 ubiquitin-protein ligase

cd11930
Location:200 → 254

SH3_SH3RF1_2; Second Src Homology 3 domain of SH3 domain containing ring finger protein 1, an E3 ubiquitin-protein ligase

cd00162
Location:11 → 56

RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...

cl17036
Location:137 → 190

SH3; Src Homology 3 domain superfamily