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SH3BGRL SH3 domain binding glutamate rich protein like [ Homo sapiens (human) ]

Gene ID: 6451, updated on 3-Nov-2024

Summary

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Official Symbol
SH3BGRLprovided by HGNC
Official Full Name
SH3 domain binding glutamate rich protein likeprovided by HGNC
Primary source
HGNC:HGNC:10823
See related
Ensembl:ENSG00000131171 MIM:300190; AllianceGenome:HGNC:10823
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
SH3BGR; HEL-S-115
Summary
Enables protein-RNA adaptor activity and ubiquitin-like ligase-substrate adaptor activity. Involved in positive regulation of cytoplasmic translational initiation and proteasome-mediated ubiquitin-dependent protein catabolic process. Located in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in endometrium (RPKM 90.2), urinary bladder (RPKM 79.0) and 25 other tissues See more
Orthologs
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Genomic context

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See SH3BGRL in Genome Data Viewer
Location:
Xq21.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (81202102..81298547)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (79635822..79732260)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (80457601..80554046)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 995, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29791 Neighboring gene high mobility group nucleosome binding domain 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29792 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29793 Neighboring gene NANOG hESC enhancer GRCh37_chrX:80482201-80482731 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:80513135-80513400 Neighboring gene uncharacterized LOC124905203 Neighboring gene uncharacterized LOC105373284

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 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. Identification and characterization of a new human gene encoding a small protein with high homology to the proline-rich region of the SH3BGR gene. Egeo A, et al. Biochem Biophys Res Commun, 1998 Jun 18. PMID 9642120
  2. Decitabine Enhances Acute Myeloid Leukemia Cell Apoptosis through SH3BGRL Upregulation. Chen X, et al. Anticancer Agents Med Chem, 2022. PMID 34963436
  3. Distinct functions of CAR-T cells possessing a dectin-1 intracellular signaling domain. Liang X, et al. Gene Ther, 2023 May. PMID 33953316
  4. Crystal structure of human SH3BGRL protein: the first structure of the human SH3BGR family representing a novel class of thioredoxin fold proteins. Yin L, et al. Proteins, 2005 Oct 1. PMID 16080146
  5. SH3BGRL as a novel prognostic biomarker is down-regulated in acute myeloid leukemia. Xu L, et al. Leuk Lymphoma, 2018 Apr. PMID 28679293

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Distinct functions of CAR-T cells possessing a dectin-1 intracellular signaling domain.
    Title: Distinct functions of CAR-T cells possessing a dectin-1 intracellular signaling domain.
  2. Adaptor SH3BGRL drives autophagy-mediated chemoresistance through promoting PIK3C3 translation and ATG12 stability in breast cancers.
    Title: Adaptor SH3BGRL drives autophagy-mediated chemoresistance through promoting PIK3C3 translation and ATG12 stability in breast cancers.
  3. Decitabine Enhances Acute Myeloid Leukemia Cell Apoptosis through SH3BGRL Upregulation.
    Title: Decitabine Enhances Acute Myeloid Leukemia Cell Apoptosis through SH3BGRL Upregulation.
  4. Adaptor SH3BGRL promotes breast cancer metastasis through PFN1 degradation by translational STUB1 upregulation.
    Title: Adaptor SH3BGRL promotes breast cancer metastasis through PFN1 degradation by translational STUB1 upregulation.
  5. Study results demonstrated that SH3BGRL is a novel crucial player in acute myeloid leukemia progression and could be both a potential diagnostic and prognostic marker.
    Title: SH3BGRL as a novel prognostic biomarker is down-regulated in acute myeloid leukemia.
  6. Results indicate Src homology 3 (SH3) domain-binding glutamic acid-rich-like protein (SH3BGRL) in driving tumor metastasis through c-Src activation, and suggests that hSH3BGRL mutation status could be relevant to cancer diagnosis and therapy.
    Title: Dual-faced SH3BGRL: oncogenic in mice, tumor suppressive in humans.
  7. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Use of genome-wide expression data to mine the "Gray Zone" of GWA studies leads to novel candidate obesity genes.
  8. h-SH3BGRL should present a novel class of the thioredoxin fold proteins
    Title: Crystal structure of human SH3BGRL protein: the first structure of the human SH3BGR family representing a novel class of thioredoxin fold proteins.
  9. mutations in predicted EVH1-binding domain of SH3BGRL had a modest effect on suppression of v-Rel transformation. This study provides the first example of a gene that is downregulated in v-Rel-expressing cells also playng a role in v-Rel transformation
    Title: The suppression of SH3BGRL is important for v-Rel-mediated transformation.
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

Homology

Clone Names

  • MGC117402

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables SH3 domain binding IEA
Inferred from Electronic Annotation
more info
  
enables protein-RNA adaptor activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables ubiquitin-like ligase-substrate adaptor activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in positive regulation of cytoplasmic translational initiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm TAS
Traceable Author Statement
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular exosome HDA PubMed 
located_in extracellular space HDA PubMed 
located_in nucleus TAS
Traceable Author Statement
more info
 PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
adapter SH3BGRL
Names
SH3 domain binding glutamic acid-rich protein like
SH3 domain-binding glutamic acid-rich-like protein
SH3 domain-binding glutamic acid-rich-like protein 1
SH3-binding domain glutamic acid-rich protein like
epididymis secretory protein Li 115

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_003022.3 → NP_003013.1  adapter SH3BGRL

    See identical proteins and their annotated locations for NP_003013.1

    Status: VALIDATED

    Source sequence(s)
    BC103762, CN272007
    Consensus CDS
    CCDS14449.1
    UniProtKB/Swiss-Prot
    O75368, Q3SYL1, Q5JT50, Q6FIE8, Q9H0N8
    UniProtKB/TrEMBL
    V9HW48
    Related
    ENSP00000362308.5, ENST00000373212.6
    Conserved Domains (1) summary
    cd03030
    Location:2 → 97
    GRX_SH3BGR; Glutaredoxin (GRX) family, SH3BGR (SH3 domain binding glutamic acid-rich protein) subfamily; a recently-identified subfamily composed of SH3BGR and similar proteins possessing significant sequence similarity to GRX, but without a redox active CXXC motif. ...

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

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    81202102..81298547
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531014.2 → XP_011529316.1  adapter SH3BGRL isoform X2

    See identical proteins and their annotated locations for XP_011529316.1

    Conserved Domains (1) summary
    cd03030
    Location:53 → 134
    GRX_SH3BGR; Glutaredoxin (GRX) family, SH3BGR (SH3 domain binding glutamic acid-rich protein) subfamily; a recently-identified subfamily composed of SH3BGR and similar proteins possessing significant sequence similarity to GRX, but without a redox active CXXC motif. ...

  2. XM_047442354.1 → XP_047298310.1  adapter SH3BGRL isoform X2

  3. XM_011531013.1 → XP_011529315.1  adapter SH3BGRL isoform X1

    Conserved Domains (1) summary
    cd03030
    Location:78 → 159
    GRX_SH3BGR; Glutaredoxin (GRX) family, SH3BGR (SH3 domain binding glutamic acid-rich protein) subfamily; a recently-identified subfamily composed of SH3BGR and similar proteins possessing significant sequence similarity to GRX, but without a redox active CXXC motif. ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    79635822..79732260
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054327574.1 → XP_054183549.1  adapter SH3BGRL isoform X2

  2. XM_054327573.1 → XP_054183548.1  adapter SH3BGRL isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75368.1 GenPept UniProtKB/Swiss-Prot:O75368

Gene LinkOut

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