Abtb3 ankyrin repeat and BTB domain containing 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Abtb3provided by MGI
Official Full Name: ankyrin repeat and BTB domain containing 3provided by MGI
Primary source: MGI:MGI:1921257
See related: Ensembl:ENSMUSG00000020042 AllianceGenome:MGI:1921257
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Btbd11; 6330404E16Rik
Summary: Enables PDZ domain binding activity. Acts upstream of or within exploration behavior; glutamatergic synaptic transmission; and protein stabilization. Located in glutamatergic synapse. Is expressed in central nervous system; dorsal root ganglion; genitourinary system; and thymus primordium. Orthologous to human ABTB3 (ankyrin repeat and BTB domain containing 3). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in cerebellum adult (RPKM 5.8), thymus adult (RPKM 5.8) and 22 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 C1; 10 41.65 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (85220835..85496156)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (85384971..85660292)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Btbd11 supports cell-type-specific synaptic function.
Title: Btbd11 supports cell-type-specific synaptic function.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10Mit261 (e-PCR), detects polymorphism
- UniSTS:126166

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables PDZ domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within exploration behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein stabilization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within synaptic transmission, glutamatergic	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
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: BTB (POZ) 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.

mRNA and Protein(s)

NM_001017525.1 → NP_001017525.1 ankyrin repeat and BTB/POZ domain-containing protein 3 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks several 5' exons but has an alternate 5' exon, as compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus, as compared to isoform 1.

Source sequence(s)

AK039038, AK044022, BC072592, BY014645

Consensus CDS

CCDS36018.1

UniProtKB/TrEMBL

E9QJW1, Q8BRL1

Related

ENSMUSP00000100943.3, ENSMUST00000105306.3

Conserved Domains (7) summary

smart00225
Location:460 → 558

BTB; Broad-Complex, Tramtrack and Bric a brac

cd00204
Location:134 → 287

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:451 → 554

BTB; BTB/POZ domain

pfam12796
Location:144 → 252

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:226 → 287

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:142 → 183

ANK; ANK repeat [structural motif]

cl06652
Location:558 → 602

BACK_like; BTB-And-C-terminal-Kelch (BACK) domain and similar domains
NM_028709.2 → NP_082985.2 ankyrin repeat and BTB/POZ domain-containing protein 3 isoform 1

See identical proteins and their annotated locations for NP_082985.2

Status: VALIDATED

Description

Transcript Variant: This variant represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

BC072592, BC096535, BC141145

Consensus CDS

CCDS24091.2

UniProtKB/Swiss-Prot

Q6GQW0, Q6PCZ7, Q8CAD2, Q8CDA2, Q9D3B9

UniProtKB/TrEMBL

B2RUH2

Related

ENSMUSP00000100944.2, ENSMUST00000105307.8

Conserved Domains (8) summary

smart00225
Location:929 → 1027

BTB; Broad-Complex, Tramtrack and Bric a brac

cd00204
Location:603 → 756

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:920 → 1023

BTB; BTB/POZ domain

pfam12796
Location:613 → 721

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:585 → 629

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:611 → 652

ANK; ANK repeat [structural motif]

cl06652
Location:1027 → 1071

BACK_like; BTB-And-C-terminal-Kelch (BACK) domain and similar domains

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 ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000076.7 Reference GRCm39 C57BL/6J

Range

85220835..85496156

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006514230.4 → XP_006514293.1 ankyrin repeat and BTB/POZ domain-containing protein 3 isoform X1

UniProtKB/TrEMBL

H7BWX5

Related

ENSMUSP00000020231.4, ENSMUST00000020231.10

Conserved Domains (5) summary

COG5262
Location:192 → 248

HTA1; Histone H2A [Chromatin structure and dynamics]

sd00045
Location:611 → 652

ANK; ANK repeat [structural motif]

cd18351
Location:785 → 915

BTB_POZ_BTBD11; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 11 (BTBD11)

cd18527
Location:908 → 990

BACK_BTBD11; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 11 (BTBD11)

pfam12796
Location:585 → 681

Ank_2; Ankyrin repeats (3 copies)