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    BTBD17 BTB domain containing 17 [ Homo sapiens (human) ]

    Gene ID: 388419, updated on 2-Nov-2024

    Summary

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    Official Symbol
    BTBD17provided by HGNC
    Official Full Name
    BTB domain containing 17provided by HGNC
    Primary source
    HGNC:HGNC:33758
    See related
    Ensembl:ENSG00000204347 AllianceGenome:HGNC:33758
    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
    BTBD17A; TANGO10A; LGALS3BPL
    Summary
    Predicted to be involved in negative regulation of viral genome replication and response to virus. Predicted to be located in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in brain (RPKM 2.8), stomach (RPKM 0.2) and 1 other tissue See more
    Orthologs
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    Genomic context

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    See BTBD17 in Genome Data Viewer
    Location:
    17q25.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (74356416..74363327, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (75247050..75253964, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (72352555..72358007, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene dynein axonemal intermediate chain 2 Neighboring gene uncharacterized LOC105371891 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8928 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:72324530-72325444 Neighboring gene Sharpr-MPRA regulatory region 11842 Neighboring gene kinesin family member 19 Neighboring gene uncharacterized LOC107985078 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72348389-72348919 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12704 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72353094-72353966 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8929 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72364259-72365247 Neighboring gene G protein-coupled receptor 142 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8931 Neighboring gene uncharacterized LOC124904055

    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. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Zody MC, et al. Nature, 2006 Apr 20. PMID 16625196, Free PMC Article
    2. Sequential genome-wide CRISPR-Cas9 screens identify genes regulating cell-surface expression of tetraspanins. Yang J, et al. Cell Rep, 2023 Feb 28. PMID 36724073
    3. MECP2 directly interacts with RNA polymerase II to modulate transcription in human neurons. Liu Y, et al. Neuron, 2024 Jun 19. PMID 38697112
    4. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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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    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in negative regulation of viral genome replication ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in response to virus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    colocalizes_with cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    BTB/POZ domain-containing protein 17
    Names
    BTB (POZ) domain containing 17
    BTB/POZ and BACK domain-containing protein LOC388419
    transport and golgi organization 10 homolog A

    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_001080466.2 → NP_001073935.1  BTB/POZ domain-containing protein 17 precursor

      See identical proteins and their annotated locations for NP_001073935.1

      Status: VALIDATED

      Source sequence(s)
      AC103809
      Consensus CDS
      CCDS32719.1
      UniProtKB/Swiss-Prot
      A6NE02
      Related
      ENSP00000364515.3, ENST00000375366.4
      Conserved Domains (3) summary
      smart00225
      Location:64 → 162
      BTB; Broad-Complex, Tramtrack and Bric a brac
      smart00875
      Location:169 → 267
      BACK; BTB And C-terminal Kelch
      pfam00651
      Location:53 → 158
      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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      74356416..74363327 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024622.2 → XP_016880111.1  BTB/POZ domain-containing protein 17 isoform X1

      Conserved Domains (3) summary
      smart00225
      Location:65 → 163
      BTB; Broad-Complex, Tramtrack and Bric a brac
      smart00875
      Location:170 → 268
      BACK; BTB And C-terminal Kelch
      pfam00651
      Location:54 → 159
      BTB; BTB/POZ domain

    2. XM_011524791.3 → XP_011523093.1  BTB/POZ domain-containing protein 17 isoform X1

      See identical proteins and their annotated locations for XP_011523093.1

      Conserved Domains (3) summary
      smart00225
      Location:65 → 163
      BTB; Broad-Complex, Tramtrack and Bric a brac
      smart00875
      Location:170 → 268
      BACK; BTB And C-terminal Kelch
      pfam00651
      Location:54 → 159
      BTB; BTB/POZ domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      75247050..75253964 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316039.1 → XP_054172014.1  BTB/POZ domain-containing protein 17 isoform X1

    2. XM_054316038.1 → XP_054172013.1  BTB/POZ domain-containing protein 17 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NE02.1 GenPept UniProtKB/Swiss-Prot:A6NE02

    Gene LinkOut

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

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