ABTB1 (ankyrin repeat and BTB domain containing 1)

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Gene miRNA Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 80325
• Gene name: Ankyrin repeat and BTB domain containing 1
• Gene symbol: ABTB1
• Synonyms (NCBI Gene): BPOZ, BPOZ-2, BTB3, BTBD21, EF1ABP, PP2259
• Chromosome: 3
• Chromosome location: 3q21.3
• 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

miRNA Show/Hide all (22)

miRTarBase ID	miRNA	Experiments	Reference
MIRT006910	hsa-miR-125b-5p	Luciferase reporter assay	22689670
MIRT006910	hsa-miR-125b-5p	Luciferase reporter assay	22689670
MIRT017403	hsa-miR-335-5p	Microarray	18185580
MIRT006910	hsa-miR-125b-5p	Luciferase reporter assay, Western blotting, qRT-PCR	33305155
MIRT1924433	hsa-miR-1200	CLIP-seq
MIRT1924434	hsa-miR-129-3p	CLIP-seq
MIRT1924435	hsa-miR-3140-5p	CLIP-seq
MIRT1924436	hsa-miR-3155	CLIP-seq
MIRT1924437	hsa-miR-3155b	CLIP-seq
MIRT1924438	hsa-miR-331-3p	CLIP-seq
MIRT1924439	hsa-miR-361-3p	CLIP-seq
MIRT1924440	hsa-miR-3667-3p	CLIP-seq
MIRT1924441	hsa-miR-3925-3p	CLIP-seq
MIRT1924442	hsa-miR-4292	CLIP-seq
MIRT1924443	hsa-miR-4645-5p	CLIP-seq
MIRT1924444	hsa-miR-4673	CLIP-seq
MIRT1924445	hsa-miR-4790-3p	CLIP-seq
MIRT1924446	hsa-miR-4802-5p	CLIP-seq
MIRT1924447	hsa-miR-484	CLIP-seq
MIRT1924448	hsa-miR-490-5p	CLIP-seq
MIRT1924449	hsa-miR-615-5p	CLIP-seq
MIRT1924450	hsa-miR-766	CLIP-seq

Gene ontology (GO) Show/Hide all (10)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000151	Component	Ubiquitin ligase complex	IBA
GO:0003746	Function	Translation elongation factor activity	IEA
GO:0005515	Function	Protein binding	IPI	21145461, 25416956, 28514442, 31515488, 32296183, 32814053, 33961781
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0006412	Process	Translation	IEA
GO:0006414	Process	Translational elongation	IEA

Other IDs

• MIM: 608308
• HGNC: 18275
• e!Ensembl: ENSG00000114626

Protein

• UniProt ID: Q969K4
• Protein name: Ankyrin repeat and BTB/POZ domain-containing protein 1 (Elongation factor 1A-binding protein)
• Protein function: May act as a mediator of the PTEN growth-suppressive signaling pathway. May play a role in developmental processes.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00651	BTB	105 → 212	BTB/POZ domain	Domain
  PF00651	BTB	267 → 376	BTB/POZ domain	Domain
  PF12796	Ank_2	2 → 67	Ankyrin repeats (3 copies)	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed in all fetal tissues examined including heart, brain, liver, and kidney. Also expressed at lower levels in both adult heart and hypertrophic heart. {ECO:0000269|PubMed:10891360}.
• Sequence:

  MDTSDLFASCRKGDVGRVRYLLEQRDVEVNVRDKWDSTPLYYACLCGHEELVLYLLANGA
  RCEANTFDGERCLYGALSDPIRRALRDYKQVTASCRRRDYYDDFLQRLLEQGIHSDVVFV
  VHGKPFRVHRCVLGARSAYFANMLDTKWKGKSVVVLRHPLINPVAFGALLQYLYTGRLDI
  GVEHVSDCERLAKQCQLWDLLSDLEAKCEKVSEFVASKPGTCVKVLTIEPPPADPRLRED
  MALLADCALPPELRGDLWELPFPCPDGFNSCPDICFRVAGCSFLCHKAFFCGRSDYFRAL
  LDDHFRESEEPATSGGPPAVTLHGISPDVFTHVLYYMYSDHTELSPEAAYDVLSVADMYL
  LPGLKRLCGRSLAQMLDEDTVVGVWRVAKLFRLARLEDQCTEYMAKVIEKLVEREDFVEA
  VKEEAAAVAARQETDSIPLVDDIRFHVASTVQTYSAIEEAQQRLRALEDLLVSIGLDC

• Sequence length: 478

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Lung cancer	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31065369	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11494141		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37143720	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	29031853		★☆☆☆☆ Found in Text Mining only

Related Genes

No strongly related genes found yet for ABTB1.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to ABTB1.