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    BTBD7 BTB domain containing 7 [ Homo sapiens (human) ]

    Gene ID: 55727, updated on 28-Oct-2024

    Summary

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    Official Symbol
    BTBD7provided by HGNC
    Official Full Name
    BTB domain containing 7provided by HGNC
    Primary source
    HGNC:HGNC:18269
    See related
    Ensembl:ENSG00000011114 MIM:610386; AllianceGenome:HGNC:18269
    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
    FUP1
    Summary
    Predicted to be involved in regulation of branching involved in salivary gland morphogenesis. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 8.5), endometrium (RPKM 5.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BTBD7 in Genome Data Viewer
    Location:
    14q32.12
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (93237550..93333036, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (87469459..87564916, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (93703896..93799382, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:93672647-93673506 Neighboring gene ribosomal protein L18a pseudogene 1 Neighboring gene GON7 subunit of KEOPS complex Neighboring gene ubiquitin protein ligase E3 component n-recognin 7 Neighboring gene ribosomal protein L36a pseudogene 4 Neighboring gene NANOG hESC enhancer GRCh37_chr14:93810118-93810619 Neighboring gene unc-79 homolog, NALCN channel complex subunit Neighboring gene cytochrome c oxidase subunit 8C Neighboring gene RNA, U6 small nuclear 1258, pseudogene

    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 Role of BTBD7 in Normal Development and Tumor Progression. Liu Y, et al. Technol Cancer Res Treat, 2023 Jan-Dec. PMID 37050886, Free PMC Article
    2. BTB domain-containing 7 predicts low recurrence and suppresses tumor progression by deactivating Notch1 signaling in breast cancer. Chen J, et al. Breast Cancer Res Treat, 2020 Nov. PMID 32772271
    3. BTB/POZ domain-containing protein 7: epithelial-mesenchymal transition promoter and prognostic biomarker of hepatocellular carcinoma. Tao YM, et al. Hepatology, 2013 Jun. PMID 23325674
    4. BTBD7 Downregulates E-Cadherin and Promotes Epithelial-Mesenchymal Transition in Lung Cancer. Shu J, et al. Biomed Res Int, 2019. PMID 31886230, Free PMC Article
    5. Silencing of Btbd7 Inhibited Epithelial-Mesenchymal Transition and Chemoresistance in CD133(+) Lung Carcinoma A549 Cells. Fang LZ, et al. Oncol Res, 2017 May 24. PMID 27983936, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The Role of BTBD7 in Normal Development and Tumor Progression.
      Title: The Role of BTBD7 in Normal Development and Tumor Progression.
    2. Extracellular Vesicles Carrying miR-887-3p Promote Breast Cancer Cell Drug Resistance by Targeting BTBD7 and Activating the Notch1/Hes1 Signaling Pathway.
      Title: Extracellular Vesicles Carrying miR-887-3p Promote Breast Cancer Cell Drug Resistance by Targeting BTBD7 and Activating the Notch1/Hes1 Signaling Pathway.
    3. BTB domain-containing 7 predicts low recurrence and suppresses tumor progression by deactivating Notch1 signaling in breast cancer.
      Title: BTB domain-containing 7 predicts low recurrence and suppresses tumor progression by deactivating Notch1 signaling in breast cancer.
    4. Studied the role of BTB domain containing 7 (BTBD7) in regulation of E-Cadherin in the development of lung cancer.
      Title: BTBD7 Downregulates E-Cadherin and Promotes Epithelial-Mesenchymal Transition in Lung Cancer.
    5. our data indicate that detection of high miR-23b and Btbd7 levels in the primary tumor of CRC patients can be correlated with the development of cancer metastasis and thus patients with these biological features should be treated more aggressively and have closer follow-ups.
      Title: Sleeping beauty genetic screen identifies miR-23b::BTBD7 gene interaction as crucial for colorectal cancer metastasis.
    6. BTBD7 was crucial for the migration and invasion of SACC-LM cells. We further demonstrated that downregulation of BTBD7 inhibited the EMT through downregulation of Slug in SACC.
      Title: BTBD7 silencing inhibited epithelial- mesenchymal transition (EMT) via regulating Slug expression in human salivary adenoid cystic carcinoma.
    7. Silencing of Btbd7 significantly inhibited the self-renewal and EMT process in CD133+ cells. we found that downregulation of Btbd7 promoted cell apoptosis and increased the sensitivity to paclitaxel in CD133+ and parental cells.
      Title: Silencing of Btbd7 Inhibited Epithelial-Mesenchymal Transition and Chemoresistance in CD133(+) Lung Carcinoma A549 Cells.
    8. BTBD7 expression was significantly correlated with Slug expression in SACC (P< 0.05). Increased BTBD7 expression was significantly associated with the TNM stage, tissue typing, distant metastasis and patients' poor clinical outcome.
      Title: Expression of BTBD7 in primary salivary adenoid cystic carcinoma and correlation with Slug and prognosis.
    9. Btbd7 contributes to reduced expression of E-cadherin and may be a promising cancer marker in non-small cell lung cancer.
      Title: Btbd7 contributes to reduced E-cadherin expression and predicts poor prognosis in non-small cell lung cancer.
    10. Cox regression analysis revealed that high BTBD7 expression integrated with high microvessel density was a powerful independent predictive factor of hepatocellular carcinoma clinical outcome.
      Title: BTB/POZ domain-containing protein 7: epithelial-mesenchymal transition promoter and prognostic biomarker of hepatocellular carcinoma.
    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

    • MGC48310, DKFZp686N0544

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in morphogenesis of a branching epithelium IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of branching involved in salivary gland morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    BTB/POZ domain-containing protein 7
    Names
    BTB (POZ) domain containing 7

    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_001002860.4 → NP_001002860.2  BTB/POZ domain-containing protein 7 isoform 1

      See identical proteins and their annotated locations for NP_001002860.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AB040958, AK074354, AL132838, BC047071
      Consensus CDS
      CCDS32146.1
      UniProtKB/Swiss-Prot
      A8K5V7, Q69Z05, Q7Z308, Q86TS0, Q9HAA4, Q9NVM0, Q9P203
      Related
      ENSP00000335615.5, ENST00000334746.10
      Conserved Domains (4) summary
      smart00225
      Location:268 → 397
      BTB; Broad-Complex, Tramtrack and Bric a brac
      smart00875
      Location:410 → 488
      BACK; BTB And C-terminal Kelch
      pfam00651
      Location:134 → 235
      BTB; BTB/POZ domain
      cl02518
      Location:269 → 393
      BTB; BTB/POZ domain

    2. NM_001289133.2 → NP_001276062.1  BTB/POZ domain-containing protein 7 isoform 3

      See identical proteins and their annotated locations for NP_001276062.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate upstream start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AB040958, AK074354, AL132838, BX248762
      Consensus CDS
      CCDS73684.1
      UniProtKB/TrEMBL
      B4E0F4
      Related
      ENSP00000451010.1, ENST00000554565.5
      Conserved Domains (1) summary
      smart00875
      Location:59 → 137
      BACK; BTB And C-terminal Kelch

    3. NM_018167.5 → NP_060637.1  BTB/POZ domain-containing protein 7 isoform 2

      See identical proteins and their annotated locations for NP_060637.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks multiple 3' coding exons and contains an alternate 3' terminal exon, resulting in a different 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      BC047071, BX248762
      Consensus CDS
      CCDS32147.1
      UniProtKB/TrEMBL
      A5D8X4
      Related
      ENSP00000298896.3, ENST00000298896.7
      Conserved Domains (3) summary
      smart00225
      Location:143 → 230
      BTB; Broad-Complex, Tramtrack and Bric a brac
      pfam00651
      Location:134 → 235
      BTB; BTB/POZ domain
      cl02518
      Location:269 → 340
      BTB; 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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      93237550..93333036 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536939.3 → XP_011535241.1  BTB/POZ domain-containing protein 7 isoform X1

      See identical proteins and their annotated locations for XP_011535241.1

      UniProtKB/Swiss-Prot
      A8K5V7, Q69Z05, Q7Z308, Q86TS0, Q9HAA4, Q9NVM0, Q9P203
      Conserved Domains (4) summary
      smart00225
      Location:268 → 397
      BTB; Broad-Complex, Tramtrack and Bric a brac
      smart00875
      Location:410 → 488
      BACK; BTB And C-terminal Kelch
      pfam00651
      Location:134 → 235
      BTB; BTB/POZ domain
      cl02518
      Location:269 → 393
      BTB; BTB/POZ domain

    2. XM_047431566.1 → XP_047287522.1  BTB/POZ domain-containing protein 7 isoform X1

      UniProtKB/Swiss-Prot
      A8K5V7, Q69Z05, Q7Z308, Q86TS0, Q9HAA4, Q9NVM0, Q9P203

    3. XM_047431565.1 → XP_047287521.1  BTB/POZ domain-containing protein 7 isoform X1

      UniProtKB/Swiss-Prot
      A8K5V7, Q69Z05, Q7Z308, Q86TS0, Q9HAA4, Q9NVM0, Q9P203

    4. XM_017021438.2 → XP_016876927.1  BTB/POZ domain-containing protein 7 isoform X2

      UniProtKB/TrEMBL
      B4E0F4
      Related
      ENSP00000450778.1, ENST00000553975.1
      Conserved Domains (1) summary
      cl28903
      Location:1 → 19
      BACK; BACK (BTB and C-terminal Kelch) domain

    5. XM_047431567.1 → XP_047287523.1  BTB/POZ domain-containing protein 7 isoform X3

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187601.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      352112..447598 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328989.1 → XP_054184964.1  BTB/POZ domain-containing protein 7 isoform X1

      UniProtKB/Swiss-Prot
      A8K5V7, Q69Z05, Q7Z308, Q86TS0, Q9HAA4, Q9NVM0, Q9P203

    2. XM_054328990.1 → XP_054184965.1  BTB/POZ domain-containing protein 7 isoform X1

      UniProtKB/Swiss-Prot
      A8K5V7, Q69Z05, Q7Z308, Q86TS0, Q9HAA4, Q9NVM0, Q9P203

    3. XM_054328988.1 → XP_054184963.1  BTB/POZ domain-containing protein 7 isoform X1

      UniProtKB/Swiss-Prot
      A8K5V7, Q69Z05, Q7Z308, Q86TS0, Q9HAA4, Q9NVM0, Q9P203

    4. XM_054328991.1 → XP_054184966.1  BTB/POZ domain-containing protein 7 isoform X2

    5. XM_054328992.1 → XP_054184967.1  BTB/POZ domain-containing protein 7 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      87469459..87564916 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376354.1 → XP_054232329.1  BTB/POZ domain-containing protein 7 isoform X1

    2. XM_054376355.1 → XP_054232330.1  BTB/POZ domain-containing protein 7 isoform X1

    3. XM_054376353.1 → XP_054232328.1  BTB/POZ domain-containing protein 7 isoform X1

    4. XM_054376356.1 → XP_054232331.1  BTB/POZ domain-containing protein 7 isoform X2

    5. XM_054376357.1 → XP_054232332.1  BTB/POZ domain-containing protein 7 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P203.3 GenPept UniProtKB/Swiss-Prot:Q9P203

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

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