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

Gene ID: 388419, updated on 27-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
  • 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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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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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

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