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

Gene ID: 84280, updated on 3-Apr-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 negative regulation of neuron death; positive regulation of phosphorylation; and type B pancreatic cell proliferation. Located in fibrillar center and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 14.0), brain (RPKM 12.4) and 24 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (13388008..13463222, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (13480752..13556031, complement)
105.20220307 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: 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. 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
  2. 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
  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 (29) 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)

Genotypes

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 ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of phosphorylation IBA
Inferred from Biological aspect of Ancestor
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_2023_10

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
    D3DQW7, Q8WXW7

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

  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

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

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

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

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

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

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

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

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

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

    UniProtKB/TrEMBL
    B7Z503

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

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

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

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

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

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

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

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

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