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

Summary

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: mouse all
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Genomic context

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_000023.11 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
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?

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.
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.
Decitabine Enhances Acute Myeloid Leukemia Cell Apoptosis through SH3BGRL Upregulation.
Title: Decitabine Enhances Acute Myeloid Leukemia Cell Apoptosis through SH3BGRL Upregulation.
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.
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.
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.
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.
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.
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.

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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

WI-12682 (e-PCR)
- UniSTS:61713

SHGC-34549 (e-PCR)
- UniSTS:81939

STS-AA034026 (e-PCR)
- UniSTS:16985

1598 (e-PCR)
- UniSTS:39062

DXS7425 (e-PCR)
- UniSTS:153557

WI-20792 (e-PCR)
- UniSTS:47847

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 more info	PubMed
located_in extracellular space	HDA more info	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)

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

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

81202102..81298547

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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