ABTB1 ankyrin repeat and BTB domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ABTB1provided by HGNC
Official Full Name: ankyrin repeat and BTB domain containing 1provided by HGNC
Primary source: HGNC:HGNC:18275
See related: Ensembl:ENSG00000114626 MIM:608308; AllianceGenome:HGNC:18275
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BPOZ; BTB3; BTBD21; EF1ABP; PP2259
Summary: This gene encodes a protein with an ankyrin repeat region and two BTB/POZ domains, which are thought to be involved in protein-protein interactions. Expression of this gene is activated by the phosphatase and tensin homolog, a tumor suppressor. Alternate splicing results in three transcript variants. [provided by RefSeq, Mar 2010]
Expression: Ubiquitous expression in spleen (RPKM 23.0), bone marrow (RPKM 13.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q21.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (127672952..127680926)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (130407613..130415593)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (127391795..127399769)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Study demonstrates that miR-4319 is expressed at a low level in colorectal cancer (CRC) tissues, which predicts the poor clinical outcome of CRC. MiR-4319 regulates the proliferation, cell cycle, invasion and migration of CRC cells. Mechanically, miR-4319 is found to be transcriptionally regulated by PLZF, and acts as a tumour suppressor in CRC by targeting ABTB1.
Title: MiR-4319 suppresses colorectal cancer progression by targeting ABTB1.
BPOZ-2 promoted eEF1A1 ubiquitylation and degradation, suggesting that eEF1A1 is a substrate of BPOZ-2.
Title: BPOZ-2 directly binds to eEF1A1 to promote eEF1A1 ubiquitylation and degradation and prevent translation.
Study showed that BPOZ-2 is a human counterpart of yeast Btb3p, which is a putative adaptor for Pcu3p-based ubiquitin ligase; BPOZ-2 bound to E3 ligase CUL3 in vitro and in vivo.
Title: Bood POZ containing gene type 2 is a human counterpart of yeast Btb3p and promotes the degradation of terminal deoxynucleotidyltransferase.

Submit: New GeneRIF Correction

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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of ankyrin repeat and BTB domain containing 1 (ABTB1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D3S2755E (e-PCR)
- UniSTS:150353

SHGC-77302 (e-PCR)
- UniSTS:31405

D3S1645 (e-PCR)
- UniSTS:154322

WI-13950 (e-PCR)
- UniSTS:53487

Homology

Homologs of the ABTB1 gene: The ABTB1 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, S.cerevisiae, K.lactis, S.pombe, M.oryzae, N.crassa, and frog.
Orthologs from Annotation Pipeline: 495 organisms have orthologs with human gene ABTB1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables translation elongation factor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in translational elongation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
part_of ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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Preferred Names: ankyrin repeat and BTB/POZ domain-containing protein 1

Names: ankyrin repeat and BTB (POZ) domain containing 1; elongation factor 1A-binding protein

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

NG_029479.1 RefSeqGene

Range

5015..12989

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_032548.4 → NP_115937.1 ankyrin repeat and BTB/POZ domain-containing protein 1 isoform 1

See identical proteins and their annotated locations for NP_115937.1

Status: REVIEWED

Description

Transcript Variant: This variant (1, also known as BPOZ type 1) contains an alternate exon in its 5' UTR, and uses a downstream in-frame start codon, compared to variant 2. The encoded isoform (1) has a shorter N-terminus, compared to isoform 2, and it lacks the ankyrin repeat region.

Source sequence(s)

AB053324, AI337369, BF664138, BM671027

Consensus CDS

CCDS46901.1

UniProtKB/Swiss-Prot

Q969K4

Related

ENSP00000412684.2, ENST00000453791.6

Conserved Domains (3) summary

smart00225
Location:131 → 234

BTB; Broad-Complex, Tramtrack and Bric a brac

pfam00651
Location:131 → 230

BTB; BTB/POZ domain

cl02518
Location:8 → 68

BTB; BTB/POZ domain
NM_172027.3 → NP_742024.1 ankyrin repeat and BTB/POZ domain-containing protein 1 isoform 2

See identical proteins and their annotated locations for NP_742024.1

Status: REVIEWED

Description

Transcript Variant: This variant (2, also known as BPOZ type 2) encodes the longer isoform (2).

Source sequence(s)

AB053325, AI337369, BF664138, BM671027

Consensus CDS

CCDS3045.1

UniProtKB/Swiss-Prot

Q969K4, Q96S63

Related

ENSP00000232744.8, ENST00000232744.13

Conserved Domains (4) summary

smart00225
Location:273 → 376

BTB; Broad-Complex, Tramtrack and Bric a brac

cd00204
Location:6 → 78

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:35 → 66

ANK; ANK repeat [structural motif]

pfam00651
Location:105 → 178

BTB; BTB/POZ domain

RNA

NR_033429.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3, also known as BPOZ type 3) uses an alternate splice site in an internal exon, compared to variant 2. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AB053326, AI337369, BF664138, BM671027

Related

ENST00000475042.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

127672952..127680926

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006713769.4 → XP_006713832.1 ankyrin repeat and BTB/POZ domain-containing protein 1 isoform X1

Conserved Domains (5) summary

smart00225
Location:275 → 378

BTB; Broad-Complex, Tramtrack and Bric a brac

cd00204
Location:3 → 78

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:107 → 212

BTB; BTB/POZ domain

pfam13857
Location:23 → 78

Ank_5; Ankyrin repeats (many copies)

sd00045
Location:37 → 68

ANK; ANK repeat [structural motif]
XM_017007285.2 → XP_016862774.1 ankyrin repeat and BTB/POZ domain-containing protein 1 isoform X2
XM_017007286.3 → XP_016862775.1 ankyrin repeat and BTB/POZ domain-containing protein 1 isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060927.1 Alternate T2T-CHM13v2.0

Range

130407613..130415593

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_172028.1: Suppressed sequence

Description

NM_172028.1: This RefSeq was permanently suppressed because currently there is insufficient support for the protein.