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    BTBD10 BTB domain containing 10 [ Homo sapiens (human) ]

    Gene ID: 84280, updated on 27-Dec-2024

    Summary

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    Official Symbol
    BTBD10provided by HGNC
    Official Full Name
    BTB domain containing 10provided by HGNC
    Primary source
    HGNC:HGNC:21445
    See related
    Ensembl:ENSG00000148925 MIM:615933; AllianceGenome:HGNC:21445
    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
    GMRP1; GMRP-1
    Summary
    Predicted to be involved in phosphatidylinositol 3-kinase/protein kinase B signal transduction; positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; and type B pancreatic cell proliferation. Located in fibrillar center and nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 14.0), brain (RPKM 12.4) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BTBD10 in Genome Data Viewer
    Location:
    11p15.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (13388008..13463222, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (13480752..13556031, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (13409555..13484769, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene basic helix-loop-helix ARNT like 1 Neighboring gene uncharacterized LOC124902636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:13379341-13379905 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:13385691-13386451 Neighboring gene RN7SK pseudogene 151 Neighboring gene uncharacterized LOC124902846 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4465 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:13493470-13494035 Neighboring gene PTH promoter region Neighboring gene PTH negative calcium response element (nCARE) region Neighboring gene parathyroid hormone Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr11:13581490-13581990 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 36

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Molecular cloning and characterization of a novel human BTB domain-containing gene, BTBD10, which is down-regulated in glioma. Chen J, et al. Gene, 2004 Sep 29. PMID 15556295
    2. Reduced expression of BTBD10 in anterior horn cells with Golgi fragmentation and pTDP-43-positive inclusions in patients with sporadic amyotrophic lateral sclerosis. Furuta N, et al. Neuropathology, 2013 Aug. PMID 23320755
    3. Glucose metabolism-related protein 1 (GMRP1) regulates pancreatic beta cell proliferation and apoptosis via activation of Akt signalling pathway in rats and mice. Wang X, et al. Diabetologia, 2011 Apr. PMID 21267538
    4. Reduced expression of BTBD10, an Akt activator, leads to motor neuron death. Nawa M, et al. Cell Death Differ, 2012 Aug. PMID 22388351, Free PMC Article
    5. A novel Akt/PKB-interacting protein promotes cell adhesion and inhibits familial amyotrophic lateral sclerosis-linked mutant SOD1-induced neuronal death via inhibition of PP2A-mediated dephosphorylation of Akt/PKB. Nawa M, et al. Cell Signal, 2008 Mar. PMID 18160256

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. findings suggest that reduced BTBD10 expression is closely linked to the pathogenesis of sporadic amyotrophic lateral sclerosis
      Title: Reduced expression of BTBD10 in anterior horn cells with Golgi fragmentation and pTDP-43-positive inclusions in patients with sporadic amyotrophic lateral sclerosis.
    2. Collectively, these results suggest that the reduced expression of BTBD10 leads to motor neuron death both in vitro and in vivo.
      Title: Reduced expression of BTBD10, an Akt activator, leads to motor neuron death.
    3. GMRP1 regulates pancreatic beta cell proliferation and apoptosis via activation of Akt signalling pathway.
      Title: Glucose metabolism-related protein 1 (GMRP1) regulates pancreatic beta cell proliferation and apoptosis via activation of Akt signalling pathway in rats and mice.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    5. BTBD10 appears to behave as a suppressor of cell death including neuronal cell death related to amyotrophic lateral sclerosis and an enhancer of cell growth via its positive regulation of Akt phosphorylation.
      Title: A novel Akt/PKB-interacting protein promotes cell adhesion and inhibits familial amyotrophic lateral sclerosis-linked mutant SOD1-induced neuronal death via inhibition of PP2A-mediated dephosphorylation of Akt/PKB.
    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

    • MGC13007

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in type B pancreatic cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    BTB/POZ domain-containing protein 10
    Names
    BTB (POZ) domain containing 10
    BTB (broad-complex tramtrack and bric-a-brac/pox virus and zinc finger) domain-containing protein 10
    K+ channel tetramerization protein
    epididymis secretory sperm binding protein
    glucose metabolism-related 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_001297741.2 → NP_001284670.1  BTB/POZ domain-containing protein 10 isoform 3

      See identical proteins and their annotated locations for NP_001284670.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has an alternate upstream exon in place of the first exon compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AF329102, AK298226
      Consensus CDS
      CCDS76388.1
      UniProtKB/TrEMBL
      A8K8M7, B7Z503
      Related
      ENSP00000435257.1, ENST00000528120.5
      Conserved Domains (1) summary
      cd18385
      Location:117 → 226
      BTB_POZ_BTBD10_GMRP1; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 10 (BTBD10)

    2. NM_001297742.2 → NP_001284671.1  BTB/POZ domain-containing protein 10 isoform 1

      See identical proteins and their annotated locations for NP_001284671.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AF329102, AK316163
      Consensus CDS
      CCDS73261.1
      UniProtKB/TrEMBL
      A8K8M7
      Related
      ENSP00000431186.1, ENST00000530907.5
      Conserved Domains (1) summary
      pfam16017
      Location:176 → 281
      BTB_3; BTB/POZ domain

    3. NM_032320.7 → NP_115696.2  BTB/POZ domain-containing protein 10 isoform 2

      See identical proteins and their annotated locations for NP_115696.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has two alternate upstream exons in place of the first exon compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AF329102
      Consensus CDS
      CCDS7811.1
      UniProtKB/Swiss-Prot
      B7Z228, Q86WG1, Q9BSF8
      UniProtKB/TrEMBL
      A8K8M7, D3DQW7, Q8WXW7
      Related
      ENSP00000278174.5, ENST00000278174.10
      Conserved Domains (1) summary
      cd18385
      Location:165 → 274
      BTB_POZ_BTBD10_GMRP1; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 10 (BTBD10)

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      13388008..13463222 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018410.2 → XP_016873899.1  BTB/POZ domain-containing protein 10 isoform X4

      UniProtKB/TrEMBL
      A8K8M7

    2. XM_024448713.2 → XP_024304481.1  BTB/POZ domain-containing protein 10 isoform X3

      UniProtKB/Swiss-Prot
      B7Z228, Q86WG1, Q9BSF8
      UniProtKB/TrEMBL
      A8K8M7, D3DQW7, Q8WXW7
      Conserved Domains (1) summary
      cd18385
      Location:165 → 274
      BTB_POZ_BTBD10_GMRP1; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 10 (BTBD10)

    3. XM_024448712.2 → XP_024304480.1  BTB/POZ domain-containing protein 10 isoform X2

      UniProtKB/TrEMBL
      A8K8M7
      Conserved Domains (1) summary
      pfam16017
      Location:168 → 273
      BTB_3; BTB/POZ domain

    4. XM_017018409.2 → XP_016873898.1  BTB/POZ domain-containing protein 10 isoform X4

      UniProtKB/TrEMBL
      A8K8M7

    5. XM_017018406.3 → XP_016873895.1  BTB/POZ domain-containing protein 10 isoform X2

      UniProtKB/TrEMBL
      A8K8M7
      Conserved Domains (1) summary
      pfam16017
      Location:168 → 273
      BTB_3; BTB/POZ domain

    6. XM_017018411.2 → XP_016873900.1  BTB/POZ domain-containing protein 10 isoform X8

      UniProtKB/TrEMBL
      A8K8M7, B7Z503
      Conserved Domains (1) summary
      cd18385
      Location:117 → 226
      BTB_POZ_BTBD10_GMRP1; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 10 (BTBD10)

    7. XM_047427695.1 → XP_047283651.1  BTB/POZ domain-containing protein 10 isoform X3

      UniProtKB/Swiss-Prot
      B7Z228, Q86WG1, Q9BSF8
      UniProtKB/TrEMBL
      A8K8M7, D3DQW7, Q8WXW7

    8. XM_047427694.1 → XP_047283650.1  BTB/POZ domain-containing protein 10 isoform X2

      UniProtKB/TrEMBL
      A8K8M7

    9. XM_017018405.2 → XP_016873894.1  BTB/POZ domain-containing protein 10 isoform X1

      UniProtKB/TrEMBL
      A8K8M7

    10. XM_047427698.1 → XP_047283654.1  BTB/POZ domain-containing protein 10 isoform X7

      UniProtKB/TrEMBL
      B7Z2J1

    11. XM_047427697.1 → XP_047283653.1  BTB/POZ domain-containing protein 10 isoform X6

      UniProtKB/TrEMBL
      B7Z2J1

    12. XM_047427696.1 → XP_047283652.1  BTB/POZ domain-containing protein 10 isoform X5

      UniProtKB/TrEMBL
      B7Z2J1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      13480752..13556031 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370169.1 → XP_054226144.1  BTB/POZ domain-containing protein 10 isoform X4

      UniProtKB/TrEMBL
      A8K8M7

    2. XM_054370166.1 → XP_054226141.1  BTB/POZ domain-containing protein 10 isoform X3

      UniProtKB/Swiss-Prot
      B7Z228, Q86WG1, Q9BSF8
      UniProtKB/TrEMBL
      A8K8M7, D3DQW7, Q8WXW7

    3. XM_054370164.1 → XP_054226139.1  BTB/POZ domain-containing protein 10 isoform X2

      UniProtKB/TrEMBL
      A8K8M7

    4. XM_054370168.1 → XP_054226143.1  BTB/POZ domain-containing protein 10 isoform X4

      UniProtKB/TrEMBL
      A8K8M7

    5. XM_054370163.1 → XP_054226138.1  BTB/POZ domain-containing protein 10 isoform X2

      UniProtKB/TrEMBL
      A8K8M7

    6. XM_054370173.1 → XP_054226148.1  BTB/POZ domain-containing protein 10 isoform X8

      UniProtKB/TrEMBL
      A8K8M7, B7Z503

    7. XM_054370167.1 → XP_054226142.1  BTB/POZ domain-containing protein 10 isoform X3

      UniProtKB/Swiss-Prot
      B7Z228, Q86WG1, Q9BSF8
      UniProtKB/TrEMBL
      A8K8M7, D3DQW7, Q8WXW7

    8. XM_054370165.1 → XP_054226140.1  BTB/POZ domain-containing protein 10 isoform X2

      UniProtKB/TrEMBL
      A8K8M7

    9. XM_054370162.1 → XP_054226137.1  BTB/POZ domain-containing protein 10 isoform X1

      UniProtKB/TrEMBL
      A8K8M7

    10. XM_054370172.1 → XP_054226147.1  BTB/POZ domain-containing protein 10 isoform X7

      UniProtKB/TrEMBL
      B7Z2J1

    11. XM_054370171.1 → XP_054226146.1  BTB/POZ domain-containing protein 10 isoform X6

      UniProtKB/TrEMBL
      B7Z2J1

    12. XM_054370170.1 → XP_054226145.1  BTB/POZ domain-containing protein 10 isoform X5

      UniProtKB/TrEMBL
      B7Z2J1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BSF8.2 GenPept UniProtKB/Swiss-Prot:Q9BSF8

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