• Gene id: 57630

Gene Summary

• Gene Symbol: SH3RF1   Gene   UCSC   Ensembl
• Aliases: POSH, RNF142, SH3MD2
• Gene name: SH3 domain containing ring finger 1
• Alternate names: E3 ubiquitin-protein ligase SH3RF1, 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,
• Gene location: 4q32.3-q33 (86069859: 85957174)     Exons: 23     NC_000011.10
• Gene summary(Entrez): 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 pr
• OMIM: 618642

Protein Summary

• Protein general information: Q7Z6J0  
  • Name: E3 ubiquitin protein ligase SH3RF1 (EC 2.3.2.27) (Plenty of SH3s) (Protein POSH) (RING finger protein 142) (RING type E3 ubiquitin transferase SH3RF1) (SH3 domain containing RING finger protein 1) (SH3 multiple domains protein 2)
  • Length: 888  
  • Mass: 93129
• Sequence:

  MDESALLDLLECPVCLERLDASAKVLPCQHTFCKRCLLGIVGSRNELRCPECRTLVGSGVEELPSNILLVRLLDG
  IKQRPWKPGPGGGSGTNCTNALRSQSSTVANCSSKDLQSSQGGQQPRVQSWSPPVRGIPQLPCAKALYNYEGKEP
  GDLKFSKGDIIILRRQVDENWYHGEVNGIHGFFPTNFVQIIKPLPQPPPQCKALYDFEVKDKEADKDCLPFAKDD
  VLTVIRRVDENWAEGMLADKIGIFPISYVEFNSAAKQLIEWDKPPVPGVDAGECSSAAAQSSTAPKHSDTKKNTK
  KRHSFTSLTMANKSSQASQNRHSMEISPPVLISSSNPTAAARISELSGLSCSAPSQVHISTTGLIVTPPPSSPVT
  TGPSFTFPSDVPYQAALGTLNPPLPPPPLLAATVLASTPPGATAAAAAAGMGPRPMAGSTDQIAHLRPQTRPSVY
  VAIYPYTPRKEDELELRKGEMFLVFERCQDGWFKGTSMHTSKIGVFPGNYVAPVTRAVTNASQAKVPMSTAGQTS
  RGVTMVSPSTAGGPAQKLQGNGVAGSPSVVPAAVVSAAHIQTSPQAKVLLHMTGQMTVNQARNAVRTVAAHNQER
  PTAAVTPIQVQNAAGLSPASVGLSHHSLASPQPAPLMPGSATHTAAISISRASAPLACAAAAPLTSPSITSASLE
  AEPSGRIVTVLPGLPTSPDSASSACGNSSATKPDKDSKKEKKGLLKLLSGASTKRKPRVSPPASPTLEVELGSAE
  LPLQGAVGPELPPGGGHGRAGSCPVDGDGPVTTAVAGAALAQDAFHRKASSLDSAVPIAPPPRQACSSLGPVLNE
  SRPVVCERHRVVVSYPPQSEAELELKEGDIVFVHKKREDGWFKGTLQRNGKTGLFPGSFVENI

• Structural information:
  • Protein Domains: (134..19-)
    (/note="SH3-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (196..25-)
    (/note="SH3-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (445..50-)
    (/note="SH3-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (-)
  • Interpro: IPR036028  IPR001452  IPR028502  IPR035816  IPR035795   IPR018957  IPR001841  IPR013083  IPR017907  
  • Prosite: PS50002 PS00518 PS50089
  • CDD: cd11930 cd11785
  • DIP: 31636
  • STRING: ENSP00000284637
• Other Databases: GeneCards:  SH3RF1  Malacards:  SH3RF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005078	MAP-kinase scaffold activity	ISS	molecular function
GO:0001764	neuron migration	ISS	biological process
GO:0061630	ubiquitin protein ligase activity	IMP	molecular function
GO:2000564	regulation of CD8-positive, alpha-beta T cell proliferation	ISS	biological process
GO:0043370	regulation of CD4-positive, alpha-beta T cell differentiation	ISS	biological process
GO:0046330	positive regulation of JNK cascade	ISS	biological process
GO:0030027	lamellipodium	ISS	cellular component
GO:0051865	protein autoubiquitination	IMP	biological process
GO:0046328	regulation of JNK cascade	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0006915	apoptotic process	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0030027	lamellipodium	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:2001237	negative regulation of extrinsic apoptotic signaling pathway	IMP	biological process
GO:0043154	negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IMP	biological process

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray