SH3RF3 SH3 domain containing ring finger 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SH3RF3provided by HGNC
Official Full Name: SH3 domain containing ring finger 3provided by HGNC
Primary source: HGNC:HGNC:24699
See related: Ensembl:ENSG00000172985 MIM:618933; AllianceGenome:HGNC:24699
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: POSH2; SH3MD4
Summary: Enables ubiquitin protein ligase activity. Involved in positive regulation of JNK cascade and protein autoubiquitination. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in testis (RPKM 1.9), gall bladder (RPKM 1.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q13

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (109129205..109504634)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (109589723..109965692)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (109745661..110262211)

Chromosome 2 - NC_000002.12 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?

MiR-192-5p inhibits proliferation, migration, and invasion in papillary thyroid carcinoma cells by regulation of SH3RF3.
Title: MiR-192-5p inhibits proliferation, migration, and invasion in papillary thyroid carcinoma cells by regulation of SH3RF3.
SH3RF3 promotes breast cancer stem-like properties via JNK activation and PTX3 upregulation.
Title: SH3RF3 promotes breast cancer stem-like properties via JNK activation and PTX3 upregulation.
POSH2 was found to have a conserved N-terminal extension not present in POSH1 and POSH3. POSH2 has GTP-loaded Rac1 binding activity and this activity was mapped to a partial Cdc42/Rac-interactive binding (CRIB) domain.
Title: POSH2 is a RING finger E3 ligase with Rac1 binding activity through a partial CRIB domain.
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.

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH11810 (e-PCR)
- UniSTS:68869

IB846 (e-PCR)
- UniSTS:33034

RH120416 (e-PCR)
- UniSTS:133411

SHGC-153258 (e-PCR)
- UniSTS:173657

D2S199 (e-PCR)
- UniSTS:147585

RH65580 (e-PCR)
- UniSTS:62340

D2S1893 (e-PCR)
- UniSTS:2445

D2S1891 (e-PCR)
- UniSTS:67754

HSC16A112 (e-PCR)
- UniSTS:76215

RH103435 (e-PCR)
- UniSTS:97760

SHGC-152525 (e-PCR)
- UniSTS:182011

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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 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 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

General protein information

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Preferred Names: E3 ubiquitin-protein ligase SH3RF3

Names: SH3 domain-containing RING finger protein 3; SH3 multiple domains 4; plenty of SH3s-2

NP_001092759.1

EC 2.3.2.27

XP_011509411.1

EC 2.3.2.27

XP_011509412.1

EC 2.3.2.27

XP_047300100.1

EC 2.3.2.27

XP_054197741.1

EC 2.3.2.27

XP_054197742.1

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_001099289.3 → NP_001092759.1 E3 ubiquitin-protein ligase SH3RF3

See identical proteins and their annotated locations for NP_001092759.1

Status: VALIDATED

Source sequence(s)

AA916456, AC133109, AK074131, DQ307286, DV080665, HY224642

Consensus CDS

CCDS74557.1

UniProtKB/Swiss-Prot

A0SDZ7, A8MPR1, Q8NDU1, Q8TEJ3

Related

ENSP00000309186.6, ENST00000309415.8

Conserved Domains (5) summary

cd11785
Location:827 → 881

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

cd11925
Location:467 → 523

SH3_SH3RF3_3; Third Src Homology 3 domain of SH3 domain containing ring finger 3, an E3 ubiquitin-protein ligase

cd11928
Location:197 → 250

SH3_SH3RF3_1; First Src Homology 3 domain of SH3 domain containing ring finger 3, an E3 ubiquitin-protein ligase

cd11931
Location:260 → 314

SH3_SH3RF3_2; Second Src Homology 3 domain of SH3 domain containing ring finger 3, an E3 ubiquitin-protein ligase

cd00162
Location:56 → 98

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 ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

109129205..109504634

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011511109.3 → XP_011509411.1 E3 ubiquitin-protein ligase SH3RF3 isoform X1

Conserved Domains (5) summary

cd11925
Location:467 → 523

SH3_SH3RF3_3; Third Src Homology 3 domain of SH3 domain containing ring finger 3, an E3 ubiquitin-protein ligase

cd11928
Location:197 → 250

SH3_SH3RF3_1; First Src Homology 3 domain of SH3 domain containing ring finger 3, an E3 ubiquitin-protein ligase

cd11931
Location:260 → 314

SH3_SH3RF3_2; Second Src Homology 3 domain of SH3 domain containing ring finger 3, an E3 ubiquitin-protein ligase

PLN02217
Location:516 → 649

PLN02217; probable pectinesterase/pectinesterase inhibitor

cd16750
Location:53 → 98

RING-HC_SH3RF3; RING finger, HC subclass, found in SH3 domain-containing RING finger protein 3 (SH3RF3) and similar proteins
XM_047444144.1 → XP_047300100.1 E3 ubiquitin-protein ligase SH3RF3 isoform X2
XM_011511110.3 → XP_011509412.1 E3 ubiquitin-protein ligase SH3RF3 isoform X3

Conserved Domains (3) summary

cd11785
Location:502 → 556

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

cd11925
Location:142 → 198

SH3_SH3RF3_3; Third Src Homology 3 domain of SH3 domain containing ring finger 3, an E3 ubiquitin-protein ligase

PLN02217
Location:191 → 324

PLN02217; probable pectinesterase/pectinesterase inhibitor