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    SH3BGR SH3 domain binding glutamate rich protein [ Homo sapiens (human) ]

    Gene ID: 6450, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SH3BGRprovided by HGNC
    Official Full Name
    SH3 domain binding glutamate rich proteinprovided by HGNC
    Primary source
    HGNC:HGNC:10822
    See related
    Ensembl:ENSG00000185437 MIM:602230; AllianceGenome:HGNC:10822
    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
    21-GARP
    Summary
    Predicted to enable SH3 domain binding activity. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in heart (RPKM 36.2), prostate (RPKM 11.6) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SH3BGR in Genome Data Viewer
    Location:
    21q22.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (39445865..39515506)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (37830488..37900126)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (40817791..40887433)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene GET1-SH3BGR readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18468 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18469 Neighboring gene ring finger protein 6 pseudogene 1 Neighboring gene guided entry of tail-anchored proteins factor 1 Neighboring gene lebercilin LCA5 like Neighboring gene Sharpr-MPRA regulatory region 12540 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13328 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:40823338-40823876 Neighboring gene microRNA 6508 Neighboring gene MYL6 pseudogene 2 Neighboring gene ribosomal protein S26 pseudogene 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:40899605-40900600 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:40907492-40908386 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:40909281-40910174 Neighboring gene JCAD pseudogene 1 Neighboring gene NANOG hESC enhancer GRCh37_chr21:40923594-40924095 Neighboring gene NANOG hESC enhancer GRCh37_chr21:40931347-40931936 Neighboring gene B3GALT5 antisense RNA 1

    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
    • 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. Cloning a new human gene from chromosome 21q22.3 encoding a glutamic acid-rich protein expressed in heart and skeletal muscle. Scartezzini P, et al. Hum Genet, 1997 Mar. PMID 9050928
    2. Heart morphogenesis is not affected by overexpression of the Sh3bgr gene mapping to the Down syndrome heart critical region. Sandri C, et al. Hum Genet, 2004 Apr. PMID 14767758
    3. Trisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and -Independent Manners. Alves da Silva AF, et al. PLoS One, 2016. PMID 27100087, Free PMC Article
    4. Use of genome-wide expression data to mine the "Gray Zone" of GWA studies leads to novel candidate obesity genes. Naukkarinen J, et al. PLoS Genet, 2010 Jun 3. PMID 20532202, Free PMC Article
    5. Screening the proteins that interact with calpain in a human heart cDNA library using a yeast two-hybrid system. Jiang LQ, et al. Hypertens Res, 2002 Jul. PMID 12358155

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of SH3 domain binding glutamic acid-rich protein (SH3BGR) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough GET1-SH3BGR

    Readthrough gene: GET1-SH3BGR, Included gene: GET1

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    SH3 domain-binding glutamic acid-rich protein
    Names
    SH3-binding domain and glutamic acid-rich protein

    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_001001713.1 → NP_001001713.1  SH3 domain-binding glutamic acid-rich protein isoform b

      See identical proteins and their annotated locations for NP_001001713.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate 5' exon compared to variant 1. The resulting isoform (b) has a shorter N-terminus compared to isoform a. Variants 2 and 5 encode the same isoform (b).
      Source sequence(s)
      AI338732, BC006371, BM474020, X93498
      Consensus CDS
      CCDS33560.1
      UniProtKB/Swiss-Prot
      P55822
      Related
      ENSP00000370011.3, ENST00000380637.7
      Conserved Domains (1) summary
      cl00388
      Location:1 → 50
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

    2. NM_001317740.2 → NP_001304669.2  SH3 domain-binding glutamic acid-rich protein isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an exon compared to variant 1. The encoded isoform (c) is shorter than isoform a.
      Source sequence(s)
      AF121781, AF121897
      UniProtKB/TrEMBL
      H7C2G0
      Related
      ENSP00000405675.1, ENST00000452550.5
      Conserved Domains (1) summary
      pfam04908
      Location:1 → 98
      SH3BGR; SH3-binding, glutamic acid-rich protein

    3. NM_001317741.1 → NP_001304670.1  SH3 domain-binding glutamic acid-rich protein isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate 5' most exon and lacks an exon in the central coding region compared to variant 1. These differences result in the use of alternate start codon compared to variant 1. The encoded isoform (d) is shorter and has a distinct N-terminus compared to isoform a.
      Source sequence(s)
      BG742101, BQ574343
      Consensus CDS
      CCDS82675.1
      UniProtKB/TrEMBL
      C9JJT2
      Related
      ENSP00000404980.1, ENST00000458295.5
      Conserved Domains (1) summary
      cl00388
      Location:1 → 50
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

    4. NM_001317742.1 → NP_001304671.1  SH3 domain-binding glutamic acid-rich protein isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate 5' most exon and lacks a portion of the 5' coding region compared to variant 1. These differences result in the use of alternate start codon compared to variant 1. The encoded isoform (b) is shorter and has a distinct N-terminus compared to isoform a. Variants 2 and 5 encode the same isoform (b).
      Source sequence(s)
      AF121781, AF121897, BI819819, BQ574343
      Consensus CDS
      CCDS33560.1
      UniProtKB/Swiss-Prot
      P55822
      Related
      ENSP00000370008.1, ENST00000380634.5
      Conserved Domains (1) summary
      cl00388
      Location:1 → 50
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

    5. NM_007341.3 → NP_031367.2  SH3 domain-binding glutamic acid-rich protein isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AF121781, AF121897
      Consensus CDS
      CCDS13666.2
      UniProtKB/TrEMBL
      A0A804CBI3
      Related
      ENSP00000332513.5, ENST00000333634.10
      Conserved Domains (1) summary
      pfam04908
      Location:1 → 98
      SH3BGR; SH3-binding, glutamic acid-rich protein

    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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      39445865..39515506
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      37830488..37900126
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P55822.3 GenPept UniProtKB/Swiss-Prot:P55822

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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