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

Gene ID: 55727, updated on 2-Nov-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, Nov 2024]
Expression
Ubiquitous expression in thyroid (RPKM 8.5), endometrium (RPKM 5.4) and 25 other tissues See more
Orthologs
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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

Gene LinkOut

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

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