SH3RF1 Gene (Protein Coding)

SH3 Domain Containing Ring Finger 1

GC04M169094
GIFtS:
39
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 sign... See more...

Aliases for SH3RF1 Gene

Aliases for SH3RF1 Gene

  • SH3 Domain Containing Ring Finger 1 2 3 5
  • SH3 Domain-Containing RING Finger Protein 1 3 4
  • RING-Type E3 Ubiquitin Transferase SH3RF1 3 4
  • E3 Ubiquitin-Protein Ligase SH3RF1 3 4
  • SH3 Multiple Domains Protein 2 3 4
  • SH3 Multiple Domains 2 2 3
  • Plenty Of SH3 Domains 2 3
  • Plenty Of SH3s 3 4
  • SH3MD2 3 4
  • RNF142 3 4
  • POSH 3 4
  • Putative E3 Ubiquitin-Protein Ligase SH3RF1 3
  • Ring Finger Protein 142 3
  • RING Finger Protein 142 4
  • Protein POSH 4
  • EC 2.3.2.27 4
  • KIAA1494 4
  • EC 6.3.2 52
  • POSH1 4

External Ids for SH3RF1 Gene

Previous HGNC Symbols for SH3RF1 Gene

  • SH3MD2

Previous GeneCards Identifiers for SH3RF1 Gene

  • GC04M170251
  • GC04M170015
  • GC04M165769

Summaries for SH3RF1 Gene

Entrez Gene Summary for SH3RF1 Gene

  • 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]

GeneCards Summary for SH3RF1 Gene

SH3RF1 (SH3 Domain Containing Ring Finger 1) is a Protein Coding gene. Among its related pathways are Class I MHC mediated antigen processing and presentation and G13 Signaling Pathway. Gene Ontology (GO) annotations related to this gene include ligase activity. An important paralog of this gene is SH3RF3.

UniProtKB/Swiss-Prot Summary for SH3RF1 Gene

  • Has E3 ubiquitin-protein ligase activity. In the absence of an external substrate, it can catalyze self-ubiquitination (PubMed:15659549, PubMed:20696164). Stimulates ubiquitination of potassium channel KCNJ1, enhancing it's dynamin-dependent and clathrin-independent endocytosis (PubMed:19710010). Acts as a scaffold protein that coordinates with MAPK8IP1/JIP1 in organizing different components of the JNK pathway, including RAC1 or RAC2, MAP3K11/MLK3 or MAP3K7/TAK1, MAP2K7/MKK7, MAPK8/JNK1 and/or MAPK9/JNK2 into a functional multiprotein complex to ensure the effective activation of the JNK signaling pathway. Regulates the differentiation of CD4(+) and CD8(+) T-cells and promotes T-helper 1 (Th1) cell differentiation. Regulates the activation of MAPK8/JNK1 and MAPK9/JNK2 in CD4(+) T-cells and the activation of MAPK8/JNK1 in CD8(+) T-cells. Plays a crucial role in the migration of neocortical neurons in the developing brain. Controls proper cortical neuronal migration and the formation of proximal cytoplasmic dilation in the leading process (PCDLP) in migratory neocortical neurons by regulating the proper localization of activated RAC1 and F-actin assembly (By similarity).
  • (Microbial infection) Plays an essential role in the targeting of HIV-1 Gag to the plasma membrane, this function is dependent on it's RING domain, and hence it's E3 ligase activity.

Gene Wiki entry for SH3RF1 Gene

Additional gene information for SH3RF1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SH3RF1 Gene

Genomics for SH3RF1 Gene

GeneHancer (GH) Regulatory Elements for SH3RF1 Gene

Promoters and enhancers for SH3RF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH04J169266 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 511.4 +1.2 1200 6.2 POLR2G NCOR1 JUND FOS ZFX EP300 POLR2A CLOCK ZNF423 ZBTB26 SH3RF1 HSALNG0038468 HPF1 ENSG00000251171
GH04J169156 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 513.2 +111.6 111639 6.3 JUND ATF2 NR2F2 NFE2 FOS ZNF664 FEZF1 GATA2 JUN POLR2A SH3RF1 ENSG00000251171 RPL6P12 lnc-SH3RF1-1
GH04J169208 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 16.8 +61.3 61293 4.4 EP300 ZSCAN5C ZIC2 TRIM28 RELA ATF2 NFYB OSR2 NR2F2 TCF7L2 SH3RF1 ENSG00000251171 HSALNG0038468
GH04J169200 Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas dbSUPER 15.5 +69.1 69098 5.2 FOXA2 ZNF316 MAFF FOSL2 MAFK JUND FOXA1 EBF1 IKZF1 PRDM6 ENSG00000251171 SH3RF1 HSALNG0038468
GH04J169218 Enhancer 1.2 Ensembl ENCODE dbSUPER 15.6 +46.4 46398 12.2 TCF12 NCOR1 JUND FOS ZNF639 REST TRIM28 EP300 ZEB1 OSR2 SH3RF1 ENSG00000251171 PALLD HSALNG0038468
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SH3RF1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SH3RF1

Top Transcription factor binding sites by QIAGEN in the SH3RF1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • Egr-1
  • Egr-4
  • FOXJ2 (long isoform)
  • NF-1
  • NF-1/L
  • TBP

Genomic Locations for SH3RF1 Gene

Genomic Locations for SH3RF1 Gene
chr4:169,094,256-169,271,098
(GRCh38/hg38)
Size:
176,843 bases
Orientation:
Minus strand
chr4:170,015,407-170,192,256
(GRCh37/hg19)
Size:
176,850 bases
Orientation:
Minus strand

Genomic View for SH3RF1 Gene

Genes around SH3RF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SH3RF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SH3RF1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SH3RF1 Gene

Proteins for SH3RF1 Gene

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  • Protein details for SH3RF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z6J0-SH3R1_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase SH3RF1
    Protein Accession:
    Q7Z6J0
    Secondary Accessions:
    • Q05BT2
    • Q8IW46
    • Q9HAM2
    • Q9P234

    Protein attributes for SH3RF1 Gene

    Size:
    888 amino acids
    Molecular mass:
    93129 Da
    Quaternary structure:
    • Interacts with RAC1; in a GTP-dependent manner (PubMed:20696164). Interacts with MAP3K10/MLK2 and MAP3K11/MLK3. Interacts with MAPK8IP; this interaction leads to the PJAC complex (POSH-JIP or SH3RF1/MAPK8IP apoptotic complex) with a 1:1 ratio. Interacts with SIAH1. Interacts with HERP1. Probably part of a signaling complex that may contain SH3RF1, MAPK8IP, DLK1, MAP2K4/MKK4, MAP2K7/MKK7, MAPK8/JNK1, MAPK9/JNK2, AKT1 and AKT2 (PubMed:12514131, PubMed:14504284, PubMed:16230351, PubMed:16571722, PubMed:17420289, PubMed:17535800). Found in a complex with RAC2, MAP3K7/TAK1, MAP2K7/MKK7, MAPK8IP1/JIP1, MAPK8/JNK1 and MAPK9/JNK2. Found in a complex with RAC1, MAP3K11/MLK3, MAP2K7/MKK7, MAPK8IP1/JIP1 and MAPK8/JNK1. Interacts with SH3RF2 (By similarity).
    SequenceCaution:
    • Sequence=AAH33203.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAH33203.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH53671.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the middle of the protein.; Evidence={ECO:0000305};

    Alternative splice isoforms for SH3RF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SH3RF1 Gene

Protein Expression for SH3RF1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for SH3RF1 Gene

Q7Z6J0:
  • HGFFPTNFVQ
  • RVDENWAEG
  • AKVLPCQHTFC
  • DKIGIFPISYVEFNSAA
  • TGLFPGSFV
  • HIQTSPQ
  • PVLISSSNP
  • KKNTKKRHSFTSL
  • LLECPVC
  • IKPLPQPPPQCKALYDFE
  • PRKEDELELRKGEMFLV
  • LPSNILLVRLLDGIKQRPWKPGP
  • LRRQVDENWYHGE
  • KIGVFPGNY
  • GLSCSAPSQ
  • PQLPCAKALYNY
  • KDKEADKDCLPF
  • EKKGLLKLLS
  • RPTAAVTPIQ

Post-translational modifications for SH3RF1 Gene

  • Phosphorylated at Ser-304 by AKT1 and AKT2. When phosphorylated, it has reduced ability to bind Rac.
  • Autoubiquitinated (PubMed:20696164). Ubiquitinated by SH3RF2, leading to proteasome-mediated degradation (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SH3RF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for SH3RF1 Gene

Gene Families for SH3RF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for SH3RF1 Gene

Blocks:
  • Zn-finger, RING
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SH3RF1 Gene

GenScript: Design optimal peptide antigens:
  • SH3 multiple domains protein 2 (SH3R1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7Z6J0

UniProtKB/Swiss-Prot:

SH3R1_HUMAN :
  • The RING finger domain is required for ubiquitin ligase activity and autoubiquitination.
  • Belongs to the SH3RF family.
Domain:
  • The RING finger domain is required for ubiquitin ligase activity and autoubiquitination.
Family:
  • Belongs to the SH3RF family.
genes like me logo Genes that share domains with SH3RF1: view

Function for SH3RF1 Gene

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Molecular function for SH3RF1 Gene

UniProtKB/Swiss-Prot Function:
Has E3 ubiquitin-protein ligase activity. In the absence of an external substrate, it can catalyze self-ubiquitination (PubMed:15659549, PubMed:20696164). Stimulates ubiquitination of potassium channel KCNJ1, enhancing it's dynamin-dependent and clathrin-independent endocytosis (PubMed:19710010). Acts as a scaffold protein that coordinates with MAPK8IP1/JIP1 in organizing different components of the JNK pathway, including RAC1 or RAC2, MAP3K11/MLK3 or MAP3K7/TAK1, MAP2K7/MKK7, MAPK8/JNK1 and/or MAPK9/JNK2 into a functional multiprotein complex to ensure the effective activation of the JNK signaling pathway. Regulates the differentiation of CD4(+) and CD8(+) T-cells and promotes T-helper 1 (Th1) cell differentiation. Regulates the activation of MAPK8/JNK1 and MAPK9/JNK2 in CD4(+) T-cells and the activation of MAPK8/JNK1 in CD8(+) T-cells. Plays a crucial role in the migration of neocortical neurons in the developing brain. Controls proper cortical neuronal migration and the formation of proximal cytoplasmic dilation in the leading process (PCDLP) in migratory neocortical neurons by regulating the proper localization of activated RAC1 and F-actin assembly (By similarity).
UniProtKB/Swiss-Prot Function:
(Microbial infection) Plays an essential role in the targeting of HIV-1 Gag to the plasma membrane, this function is dependent on it's RING domain, and hence it's E3 ligase activity.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence={ECO:0000269 PubMed:15659549, ECO:0000269 PubMed:19710010, ECO:0000269 PubMed:20696164};.

Enzyme Numbers (IUBMB) for SH3RF1 Gene

Phenotypes From GWAS Catalog for SH3RF1 Gene

Gene Ontology (GO) - Molecular Function for SH3RF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005078 MAP-kinase scaffold activity ISS --
GO:0005515 protein binding IEA,IPI 20696164
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0061630 ubiquitin protein ligase activity IMP 20696164
genes like me logo Genes that share ontologies with SH3RF1: view
genes like me logo Genes that share phenotypes with SH3RF1: view

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No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SH3RF1 Gene

Localization for SH3RF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SH3RF1 Gene

Cytoplasm, perinuclear region. Cell projection, lamellipodium. Golgi apparatus, trans-Golgi network. Note=Colocalizes, with AKT2, in lamellipodia (By similarity). Colocalizes, with HERP1, in trans-Golgi network. {ECO:0000250 UniProtKB:Q69ZI1, ECO:0000269 PubMed:17420289}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SH3RF1 gene
Compartment Confidence
cytosol 5
nucleus 4
golgi apparatus 4
plasma membrane 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Intermediate filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SH3RF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol IDA 21586138
GO:0030027 lamellipodium ISS --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with SH3RF1: view

Pathways & Interactions for SH3RF1 Gene

genes like me logo Genes that share pathways with SH3RF1: view

Pathways by source for SH3RF1 Gene

1 BioSystems pathway for SH3RF1 Gene
3 Qiagen pathways for SH3RF1 Gene
  • JNK Pathway
  • MAPK Signaling
  • Rac1 Pathway

UniProtKB/Swiss-Prot Q7Z6J0-SH3R1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for SH3RF1 Gene

Activates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for SH3RF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration ISS --
GO:0006915 apoptotic process IEA --
GO:0016567 protein ubiquitination IEA --
GO:0043066 negative regulation of apoptotic process IMP 21586138
GO:0043154 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IMP 21586138
genes like me logo Genes that share ontologies with SH3RF1: view

Drugs & Compounds for SH3RF1 Gene

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  1. Drug

(1) Drugs for SH3RF1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with SH3RF1: view

Transcripts for SH3RF1 Gene

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mRNA/cDNA for SH3RF1 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SH3RF1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b · 14c ^ 15
SP1: - - -
SP2: -
SP3:
SP4:
SP5:
SP6: -
SP7:

Relevant External Links for SH3RF1 Gene

GeneLoc Exon Structure for
SH3RF1

Expression for SH3RF1 Gene

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  1. Primer
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SH3RF1 Gene

mRNA expression in normal human tissues for SH3RF1 Gene
mRNA expression by GTEx for SH3RF1 GenemRNA expression by BioGPS for SH3RF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SH3RF1 Gene

This gene is overexpressed in Platelet (58.6) and Placenta (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SH3RF1 Gene



Protein tissue co-expression partners for SH3RF1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SH3RF1

SOURCE GeneReport for Unigene cluster for SH3RF1 Gene:

Hs.301804

Evidence on tissue expression from TISSUES for SH3RF1 Gene

  • Nervous system(4.6)
  • Liver(4.2)
  • Eye(4)
genes like me logo Genes that share expression patterns with SH3RF1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SH3RF1 Gene

Orthologs for SH3RF1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SH3RF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia SH3RF1 31 30
  • 99.59 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia SH3RF1 31 30
  • 89.19 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Sh3rf1 30
  • 86.44 (n)
mouse
(Mus musculus)
 Mammalia Sh3rf1 17 31 30
  • 85.95 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia SH3RF1 31
  • 83 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia SH3RF1 31
  • 80 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia SH3RF1 31 30
  • 77.46 (n)
 OneToOne
chicken
(Gallus gallus)
 Aves SH3RF1 31 30
  • 76.15 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia SH3RF1 31
  • 79 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia sh3rf1 30
  • 70.56 (n)
zebrafish
(Danio rerio)
 Actinopterygii sh3rf1 31 30
  • 63.83 (n)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta POSH 31
  • 31 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea sorb-1 31
  • 12 (a)
 OneToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes NBP2 33
sea squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 41 (a)
 OneToMany
Species where no ortholog for SH3RF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SH3RF1 Gene

ENSEMBL:
Gene Tree for SH3RF1 (if available)
TreeFam:
Gene Tree for SH3RF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SH3RF1: view image

Paralogs for SH3RF1 Gene

Paralogs for SH3RF1 Gene

(16) SIMAP similar genes for SH3RF1 Gene using alignment to 4 proteins:

  • SH3R1_HUMAN
  • D6RAL3_HUMAN
  • D6RHX5_HUMAN
  • H0YA90_HUMAN
genes like me logo Genes that share paralogs with SH3RF1: view

Variants for SH3RF1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SH3RF1 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs3811813 - p.Pro663Ser

Additional dbSNP identifiers (rs#s) for SH3RF1 Gene

Structural Variations from Database of Genomic Variants (DGV) for SH3RF1 Gene

Variant ID Type Subtype PubMed ID
esv1236515 CNV deletion 17803354
esv1943131 CNV deletion 18987734
esv2728720 CNV deletion 23290073
esv2728721 CNV deletion 23290073
esv2728722 CNV deletion 23290073
esv2728723 CNV deletion 23290073
esv3564979 CNV deletion 23714750
esv3564980 CNV deletion 23714750
esv3603115 CNV loss 21293372
nsv1112082 CNV deletion 24896259
nsv1120843 CNV deletion 24896259
nsv1128109 CNV deletion 24896259
nsv290567 CNV insertion 16902084
nsv4599 CNV insertion 18451855
nsv964112 CNV duplication 23825009

Variation tolerance for SH3RF1 Gene

Residual Variation Intolerance Score: 15.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.94; 59.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SH3RF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SH3RF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SH3RF1 Gene

Disorders for SH3RF1 Gene

Additional Disease Information for SH3RF1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for SH3RF1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SH3RF1 Gene

Publications for SH3RF1 Gene

  1. Akt2 negatively regulates assembly of the POSH-MLK-JNK signaling complex. (PMID: 14504284) Figueroa C … Vojtek AB (The Journal of biological chemistry 2003) 3 4 23 54
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  3. POSH2 is a RING finger E3 ligase with Rac1 binding activity through a partial CRIB domain. (PMID: 20696164) Kärkkäinen S … Renkema GH (FEBS letters 2010) 3 4 54
  4. POSH stimulates the ubiquitination and the clathrin-independent endocytosis of ROMK1 channels. (PMID: 19710010) Lin DH … Wang WH (The Journal of biological chemistry 2009) 3 4 54
  5. Regulation of the Pro-apoptotic scaffolding protein POSH by Akt. (PMID: 17535800) Lyons TR … Kassenbrock CK (The Journal of biological chemistry 2007) 3 4 54

ExternalLinks

View latest publications for SH3RF1 gene in Mastermind

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