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    SHKBP1 SH3KBP1 binding protein 1 [ Homo sapiens (human) ]

    Gene ID: 92799, updated on 3-Nov-2024

    Summary

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    Official Symbol
    SHKBP1provided by HGNC
    Official Full Name
    SH3KBP1 binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:19214
    See related
    Ensembl:ENSG00000160410 MIM:617322; AllianceGenome:HGNC:19214
    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
    Sb1; PP203
    Summary
    Enables identical protein binding activity. Predicted to be involved in positive regulation of epidermal growth factor receptor signaling pathway. Predicted to be located in lysosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 24.5), spleen (RPKM 23.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SHKBP1 in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (40576873..40591397)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (43397488..43411988)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (41082779..41097303)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14655 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10630 Neighboring gene biliverdin reductase B Neighboring gene spectrin beta, non-erythrocytic 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:41029231-41029526 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10631 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14656 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10634 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10633 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10635 Neighboring gene Sharpr-MPRA regulatory region 6117 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14657 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41108540-41109063 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10637 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10638 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10639 Neighboring gene Sharpr-MPRA regulatory region 12022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10640 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14658 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41119811-41120358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14659 Neighboring gene latent transforming growth factor beta binding protein 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41128498-41129138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14660 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41136805-41137395 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:41142798-41142919 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:41153389-41154370 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14661 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10641 Neighboring gene Sharpr-MPRA regulatory region 4590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:41194847-41195786 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10642 Neighboring gene NUMB like endocytic adaptor protein

    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. The TGFβ-miR-499a-SHKBP1 pathway induces resistance to EGFR inhibitors in osteosarcoma cancer stem cell-like cells. Wang T, et al. J Exp Clin Cancer Res, 2019 May 28. PMID 31138318, Free PMC Article
    2. Human homologue of SETA binding protein 1 interacts with cathepsin B and participates in TNF-Induced apoptosis in ovarian cancer cells. Liu JP, et al. Mol Cell Biochem, 2006 Nov. PMID 16733801
    3. Genetic variant in the BCL11A (rs1427407), but not HBS1-MYB (rs6934903) loci associate with fetal hemoglobin levels in Indian sickle cell disease patients. Bhanushali AA, et al. Blood Cells Mol Dis, 2015 Jan. PMID 25457385
    4. Exosomal circSHKBP1 promotes gastric cancer progression via regulating the miR-582-3p/HUR/VEGF axis and suppressing HSP90 degradation. Xie M, et al. Mol Cancer, 2020 Jun 29. PMID 32600329, Free PMC Article
    5. Structural complexity in the KCTD family of Cullin3-dependent E3 ubiquitin ligases. Pinkas DM, et al. Biochem J, 2017 Nov 1. PMID 28963344, Free PMC Article

    See all (64) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Study suggests that an elevated SHKBP1/miR-499a ratio is a molecular signature that characterizes the erlotinib-resistant overall survival of osteosarcoma cells, which may have clinical value as a predictive biomarker.
      Title: The TGFβ-miR-499a-SHKBP1 pathway induces resistance to EGFR inhibitors in osteosarcoma cancer stem cell-like cells.
    2. Genetic variant in the BCL11A (rs1427407), but not HBS1-MYB (rs6934903) loci associate with fetal hemoglobin levels in Indian sickle cell disease patients.
      Title: Genetic variant in the BCL11A (rs1427407), but not HBS1-MYB (rs6934903) loci associate with fetal hemoglobin levels in Indian sickle cell disease patients.
    3. SHKBP1 disturbed the translocation of CIN85 to EGFR-containing vesicles.
      Title: SH3KBP1-binding protein 1 prevents epidermal growth factor receptor degradation by the interruption of c-Cbl-CIN85 complex.
    4. hSB1 may function as a regulator of cathepsin B-mediated apoptosis.
      Title: Human homologue of SETA binding protein 1 interacts with cathepsin B and participates in TNF-Induced apoptosis in ovarian cancer cells.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of epidermal growth factor receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of epidermal growth factor receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein homooligomerization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in lysosome IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    SH3KBP1-binding protein 1
    Names
    SETA-binding protein 1

    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_138392.4 → NP_612401.2  SH3KBP1-binding protein 1

      See identical proteins and their annotated locations for NP_612401.2

      Status: VALIDATED

      Source sequence(s)
      AF258553, BC007653, DB038927
      Consensus CDS
      CCDS12560.1
      UniProtKB/Swiss-Prot
      Q8N2I6, Q8TBC3, Q8WY93, Q96IB8
      UniProtKB/TrEMBL
      B2R6W9
      Related
      ENSP00000291842.4, ENST00000291842.10
      Conserved Domains (1) summary
      pfam02214
      Location:21 → 106
      BTB_2; BTB/POZ domain

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      40576873..40591397
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006723474.3 → XP_006723537.1  SH3KBP1-binding protein 1 isoform X1

      UniProtKB/TrEMBL
      B2R6W9
      Conserved Domains (2) summary
      smart00225
      Location:23 → 108
      BTB; Broad-Complex, Tramtrack and Bric a brac
      pfam02214
      Location:21 → 106
      BTB_2; BTB/POZ domain

    2. XM_006723475.3 → XP_006723538.1  SH3KBP1-binding protein 1 isoform X2

      UniProtKB/TrEMBL
      B2R6W9
      Conserved Domains (2) summary
      smart00225
      Location:23 → 108
      BTB; Broad-Complex, Tramtrack and Bric a brac
      pfam02214
      Location:21 → 106
      BTB_2; BTB/POZ domain

    3. XM_017027473.3 → XP_016882962.1  SH3KBP1-binding protein 1 isoform X3

      UniProtKB/TrEMBL
      B2R6W9

    4. XM_011527492.3 → XP_011525794.1  SH3KBP1-binding protein 1 isoform X4

      UniProtKB/TrEMBL
      M0R2P6
      Conserved Domains (2) summary
      smart00225
      Location:23 → 108
      BTB; Broad-Complex, Tramtrack and Bric a brac
      pfam02214
      Location:21 → 106
      BTB_2; BTB/POZ domain

    5. XM_047439684.1 → XP_047295640.1  SH3KBP1-binding protein 1 isoform X5

    6. XM_011527493.3 → XP_011525795.1  SH3KBP1-binding protein 1 isoform X6

      UniProtKB/TrEMBL
      B3KVX8
      Related
      ENST00000598201.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      43397488..43411988
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322615.1 → XP_054178590.1  SH3KBP1-binding protein 1 isoform X1

    2. XM_054322616.1 → XP_054178591.1  SH3KBP1-binding protein 1 isoform X2

    3. XM_054322617.1 → XP_054178592.1  SH3KBP1-binding protein 1 isoform X3

    4. XM_054322618.1 → XP_054178593.1  SH3KBP1-binding protein 1 isoform X4

    5. XM_054322619.1 → XP_054178594.1  SH3KBP1-binding protein 1 isoform X5

    6. XM_054322620.1 → XP_054178595.1  SH3KBP1-binding protein 1 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TBC3.2 GenPept UniProtKB/Swiss-Prot:Q8TBC3

    Gene LinkOut

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

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