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ABTB3 ankyrin repeat and BTB domain containing 3 [ Homo sapiens (human) ]

Gene ID: 121551, updated on 2-Nov-2024

Summary

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Official Symbol
ABTB3provided by HGNC
Official Full Name
ankyrin repeat and BTB domain containing 3provided by HGNC
Primary source
HGNC:HGNC:23844
See related
Ensembl:ENSG00000151136 AllianceGenome:HGNC:23844
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
ABTB2B; BTBD11
Summary
Predicted to enable PDZ domain binding activity and protein heterodimerization activity. Predicted to act upstream of or within exploration behavior; glutamatergic synaptic transmission; and protein stabilization. Predicted to be located in glutamatergic synapse and membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in esophagus (RPKM 5.5), thyroid (RPKM 5.2) and 13 other tissues See more
Orthologs
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Genomic context

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See ABTB3 in Genome Data Viewer
Location:
12q23.3
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (107318434..107659642)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (107282040..107623123)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (107712211..108053419)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903009 Neighboring gene Sharpr-MPRA regulatory region 1195 Neighboring gene Sharpr-MPRA regulatory region 11431 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:107712713-107713432 Neighboring gene SET pseudogene 7 Neighboring gene Sharpr-MPRA regulatory region 10758 Neighboring gene small nucleolar RNA SNORD74 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:107779003-107779548 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:107829935-107830435 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6953 Neighboring gene NANOG hESC enhancer GRCh37_chr12:107889636-107890174 Neighboring gene RNA, 5S ribosomal pseudogene 371 Neighboring gene Sharpr-MPRA regulatory region 1299 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:107931717-107932281 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr12:108003556-108004056 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:108011603-108012104 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:108012105-108012604 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:108025204-108026403 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:108029159-108030358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:108054007-108054507 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:108076698-108076955 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6954 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6955 Neighboring gene uncharacterized LOC124903010 Neighboring gene ribosomal protein L17 pseudogene 38 Neighboring gene PWP1 homolog, endonuclein

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. Btbd11 supports cell-type-specific synaptic function. Bygrave AM, et al. Cell Rep, 2023 Jun 27. PMID 37261953, Free PMC Article
  2. Cullin-3-KCTD10-mediated CEP97 degradation promotes primary cilium formation. Nagai T, et al. J Cell Sci, 2018 Dec 12. PMID 30404837
  3. Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases. Cobb J, et al. Pharmacogenomics J, 2014 Aug. PMID 24709693, Free PMC Article
  4. A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. Need AC, et al. Hum Mol Genet, 2009 Dec 1. PMID 19734545, Free PMC Article
  5. Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. Navarini AA, et al. Nat Commun, 2014 Jun 13. PMID 24927181

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
  3. 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.
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

EBI GWAS Catalog

Description
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
EBI GWAS Catalog
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
EBI GWAS Catalog
Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
EBI GWAS Catalog

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ33957, FLJ42845

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables PDZ domain binding IEA
Inferred from Electronic Annotation
more info
  
enables protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in exploration behavior IEA
Inferred from Electronic Annotation
more info
  
involved_in protein stabilization IEA
Inferred from Electronic Annotation
more info
  
involved_in synaptic transmission, glutamatergic IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
ankyrin repeat and BTB/POZ domain-containing protein 3
Names
ANK-repeat BTB domain containing protein
BTB (POZ) domain containing 11
BTB domain containing 11
BTB/POZ domain-containing protein 11
ankyrin repeat and BTB/POZ domain-containing protein BTBD11

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.

Genomic

  1. NG_052621.1 RefSeqGene

    Range
    6267..347475
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001017523.2 → NP_001017523.1  ankyrin repeat and BTB/POZ domain-containing protein 3 isoform b

    See identical proteins and their annotated locations for NP_001017523.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (b) lacks several coding exons and has an alternate 5'-terminal exon, compared to variant a. The encoded isoform (b) has a shorter and distinct N-terminus, as compared to isoform a.
    Source sequence(s)
    AK122818, AK127295
    Consensus CDS
    CCDS41827.1
    UniProtKB/TrEMBL
    B3KXB0
    Related
    ENSP00000349690.4, ENST00000357167.8
    Conserved Domains (3) summary
    cd00204
    Location:135 → 288
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:143 → 184
    ANK; ANK repeat [structural motif]
    pfam00651
    Location:452 → 559
    BTB; BTB/POZ domain

  2. NM_001018072.2 → NP_001018082.1  ankyrin repeat and BTB/POZ domain-containing protein 3 isoform a

    See identical proteins and their annotated locations for NP_001018082.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (a) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AI638039, AK122818, AK124835, AK127012, BC027931
    Consensus CDS
    CCDS31893.1
    UniProtKB/Swiss-Prot
    A4FU41, A6QL63, B3KXG3, C9J019, C9JK80, E9PHS4, Q3ZTQ4, Q52M89, Q6ZV99, Q8N245
    Related
    ENSP00000280758.5, ENST00000280758.10
    Conserved Domains (7) summary
    smart00225
    Location:924 → 1022
    BTB; Broad-Complex, Tramtrack and Bric a brac
    cd00204
    Location:598 → 751
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam00651
    Location:915 → 1018
    BTB; BTB/POZ domain
    pfam12796
    Location:608 → 716
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:580 → 624
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:606 → 647
    ANK; ANK repeat [structural motif]
    cl23907
    Location:200 → 244
    H2A; Histone 2A; H2A is a subunit of the nucleosome. The nucleosome is an octamer containing two H2A, H2B, H3, and H4 subunits. The H2A subunit performs essential roles in maintaining structural integrity of the nucleosome, chromatin condensation, and binding ...

  3. NM_001347943.2 → NP_001334872.1  ankyrin repeat and BTB/POZ domain-containing protein 3 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (c) lacks an alternate in-frame segment compared to variant a. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AC007540, AC007649
    Consensus CDS
    CCDS86332.1
    UniProtKB/Swiss-Prot
    A6QL63
    Related
    ENSP00000413889.2, ENST00000420571.6

  4. NM_001347944.1 → NP_001334873.1  ankyrin repeat and BTB/POZ domain-containing protein 3 isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (d) differs in the 5' UTR and coding sequence compared to variant a. The resulting isoform (d) has a shorter and distinct N-terminus compared to isoform a.
    Source sequence(s)
    AC007540, AC007649

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    107318434..107659642
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047428301.1 → XP_047284257.1  ankyrin repeat and BTB/POZ domain-containing protein 3 isoform X1

  2. XM_011537910.4 → XP_011536212.1  ankyrin repeat and BTB/POZ domain-containing protein 3 isoform X3

    Conserved Domains (7) summary
    smart00225
    Location:558 → 656
    BTB; Broad-Complex, Tramtrack and Bric a brac
    cd00204
    Location:232 → 385
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam00651
    Location:549 → 652
    BTB; BTB/POZ domain
    pfam12796
    Location:242 → 350
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:324 → 385
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:240 → 281
    ANK; ANK repeat [structural motif]
    cl06652
    Location:656 → 704
    BACK_like; BTB-And-C-terminal-Kelch (BACK) domain and similar domains

  3. XM_011537909.3 → XP_011536211.1  ankyrin repeat and BTB/POZ domain-containing protein 3 isoform X2

    Conserved Domains (6) summary
    smart00225
    Location:577 → 675
    BTB; Broad-Complex, Tramtrack and Bric a brac
    cd00204
    Location:251 → 404
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam00651
    Location:568 → 671
    BTB; BTB/POZ domain
    pfam12796
    Location:261 → 369
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:343 → 404
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:259 → 300
    ANK; ANK repeat [structural motif]

  4. XM_005268645.4 → XP_005268702.1  ankyrin repeat and BTB/POZ domain-containing protein 3 isoform X4

    Conserved Domains (7) summary
    smart00225
    Location:547 → 645
    BTB; Broad-Complex, Tramtrack and Bric a brac
    cd00204
    Location:221 → 374
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam00651
    Location:538 → 641
    BTB; BTB/POZ domain
    pfam12796
    Location:231 → 339
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:313 → 374
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:229 → 270
    ANK; ANK repeat [structural motif]
    cl06652
    Location:645 → 693
    BACK_like; BTB-And-C-terminal-Kelch (BACK) domain and similar domains

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    107282040..107623123
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054371099.1 → XP_054227074.1  ankyrin repeat and BTB/POZ domain-containing protein 3 isoform X1

  2. XM_054371101.1 → XP_054227076.1  ankyrin repeat and BTB/POZ domain-containing protein 3 isoform X3

  3. XM_054371100.1 → XP_054227075.1  ankyrin repeat and BTB/POZ domain-containing protein 3 isoform X2

  4. XM_054371102.1 → XP_054227077.1  ankyrin repeat and BTB/POZ domain-containing protein 3 isoform X4

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_152322.2: Suppressed sequence

    Description
    NM_152322.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A6QL63.3 GenPept UniProtKB/Swiss-Prot:A6QL63

Gene LinkOut

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