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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ABTB1 Gene

protein-coding GIFtS: 53
GCID: GC03P127391

ankyrin repeat and BTB (POZ) domain containing 1

Search for ABTB1
in

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Ankyrin Repeat And BTB (POZ) Domain Containing 1¹ ²		Elongation Factor 1A-Binding Protein² ³
BPOZ¹ ² ³ ⁵		Btb3¹
BTBD21¹ ²		BTB3²
EF1ABP¹ ²		Ankyrin Repeat And BTB/POZ Domain-Containing Protein 1²

External Ids:	HGNC: 18275¹	Entrez Gene: 80325²	Ensembl: ENSG00000114626⁷	OMIM: 608308⁵	UniProtKB: Q969K4³

ORGUL members:
	NONCODE:n409261

Export aliases for ABTB1 gene to outside databases

Previous GC identifers: GC03P124222 GC03P127550 GC03P128673 GC03P128712 GC03P128866 GC03P124772

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ABTB1:

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)

UniProtKB/Swiss-Prot: ABTB1_HUMAN, Q969K4

Function: May act as a mediator of the PTEN growth-suppressive signaling pathway. May play a role in developmental

processes

Gene Wiki entry for ABTB1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.1 NT_005612.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ABTB1 gene promoter:
E2F-4 E2F-3a E2F-5 E2F-2 Roaz E2F E2F-1 SREBP-1a HOXA5
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ABTB1 promoter sequence

Search SABiosciences Chromatin IP Primers for ABTB1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABTB1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q21 Ensembl cytogenetic band: 3q21.3 HGNC cytogenetic band: 3q21

ABTB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABTB1 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03P127391: view genomic region (about GC identifiers)

Start:	127,391,778 bp from pter	End:	127,399,769 bp from pter
Size:	7,992 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ABTB1_HUMAN, Q969K4 (See protein sequence)

Recommended Name: Ankyrin repeat and BTB/POZ domain-containing protein 1

Size: 478 amino acids; 53979 Da

Subcellular location: Cytoplasm

Sequence caution: Sequence=AAQ04661.1; Type=Frameshift; Positions=202, 212;

Secondary accessions: D3DNB0 Q6ZNU9 Q71MF1 Q96S62 Q96S63

Alternative splicing: 4 isoforms: Q969K4-1 Q969K4-2 Q969K4-3 Q969K4-4 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ABTB1: NX_Q969K4

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q969K4

ABTB1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_115937.1 NP_742024.1

ENSEMBL proteins:

ENSP00000420748 ENSP00000232744 ENSP00000412684 ENSP00000418641 ENSP00000417366

ENSP00000418439 ENSP00000377030

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	Uscn Proteins for ABTB1

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005730	nucleolus	IDA	--
GO:0005737	cytoplasm	IDA	--
GO:0005886	plasma membrane	IDA	--

ABTB1 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ABTB1 for domains About GeneDecksing

5 InterPro domains/families:

IPR011333 BTB/POZ_fold

IPR013069 BTB_POZ

IPR020683 Ankyrin_rpt-contain_dom

IPR000210 BTB/POZ-like

IPR002110 Ankyrin_rpt

Graphical View of Domain Structure for InterPro Entry Q969K4

ProtoNet protein and cluster: Q969K4

2 Blocks protein families:

IPB000210 BTB/POZ domain

IPB002110 Ankyrin repeat signature

UniProtKB/Swiss-Prot: ABTB1_HUMAN, Q969K4

Similarity: Contains 2 ANK repeats

Similarity: Contains 2 BTB (POZ) domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: ABTB1_HUMAN, Q969K4

Function: May act as a mediator of the PTEN growth-suppressive signaling pathway. May play a role in developmental

processes

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In Situ Assay
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Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003746	translation elongation factor activity	IEA	--

ABTB1 for ontologies About GeneDecksing

3 GenomeRNAi human phenotypes for ABTB1:

Decreased NANOG protein expres

Decreased OCT4 protein express

Decreased POU5F1-GFP protein e

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ABTB1

STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

5/12 Interacting proteins for ABTB1 (Q969K4^{2, 3} ENSP00000232744⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 12)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SMAD2	Q15796²^,³, ENSP00000262160⁴	MINT-60931 I2D: score=3 STRING: ENSP00000262160
SMAD9	O15198²^,³, ENSP00000369154⁴	MINT-62114 I2D: score=3 STRING: ENSP00000369154
RBX1	P62877³, ENSP00000216225⁴	I2D: score=6 STRING: ENSP00000216225
CUL3	Q13618³, ENSP00000264414⁴	I2D: score=1 STRING: ENSP00000264414
DNTTIP1	Q9H147³, ENSP00000361705⁴	I2D: score=1 STRING: ENSP00000361705

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ABTB1
Search CenterWatch for drugs/clinical trials and news about ABTB1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ABTB1 gene (3 alternative transcripts):

NM_032548.3 NM_172027.2 NM_172028.1

Unigene Cluster for ABTB1:

Ankyrin repeat and BTB (POZ) domain containing 1

Hs.107812 [show with all ESTs]

Unigene Representative Sequence: AF447886

16 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000483857 ENST00000232744 ENST00000475265 ENST00000493365 ENST00000453791(uc003ejr.3)

ENST00000475042 ENST00000466612 ENST00000479280 ENST00000467179 ENST00000468137(uc003eju.3)

ENST00000464431 ENST00000491633 ENST00000478298 ENST00000474129 ENST00000497162

ENST00000393363(uc003ejs.3 uc003ejt.3 uc010hsm.3)

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Additional cDNA sequence:

AB053324.1 AB053325.1 AB053326.1 AF297986.1 AF447886.1 AK098738.1 AK130594.1 AK315148.1

BC011858.2 NR_033429.1

16 DOTS entries:

DT.115001 DT.95160180 DT.95160169 DT.100028422 DT.102828788 DT.95160174 DT.75103795 DT.80102014

DT.100028420 DT.314006 DT.40125703 DT.100817047 DT.100817049 DT.91898776 DT.95160176 DT.95160177

24/266 AceView cDNA sequences (see all 266):

AA782805 BE676755 BQ963018 CR618162 BI916196 AW849688 BE669966 AW025883

AB053324 AW005824 AI828875 BM712617 AA973027 BU790514 BM789119 BM142038

AI823504 BG150334 BF529941 CK429238 AW008884 AI394066 NM_172027 CR596999

GeneLoc Exon Structure

5/18 Alternative Splicing Database (ASD) splice patterns (SP) for ABTB1 (see all 18) About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3a	·	3b	·	3c	·	3d	^	4	^	5a	·	5b	·	5c	^	6a	·	6b	·	6c	^	7a	·	7b	·	7c	·	7d	·	7e	^	8a	·	8b	·	8c	·	8d	^	9a	·	9b	^
SP1:							-		-		-								-												-						-		-
SP2:							-		-						-				-												-						-		-
SP3:									-		-								-												-						-		-
SP4:																															-						-		-								-
SP5:																			-												-				-		-		-		-		-

ExUns:	10a	·	10b	^	11a	·	11b	·	11c	^	12	^	13a	·	13b	^	14a	·	14b	·	14c	^	15
SP1:									-		-
SP2:									-		-
SP3:
SP4:									-		-
SP5:

ECgene alternative splicing isoforms for ABTB1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ABTB1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CACAGGGCCA

About this image

ABTB1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Endochondral Facial Bones

Bone

Thoracic Rib

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ABTB1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ABTB1

SOURCE GeneReport for Unigene cluster: Hs.107812

UniProtKB/Swiss-Prot: ABTB1_HUMAN, Q969K4

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

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABTB1 gene from 7/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Abtb1^{1 , 5}	ankyrin repeat and BTB (POZ) domain containing 1⁵ ankyrin repeat and BTB (POZ) domain containing 1¹	85.91(n)¹ 94.14(a)¹		6 (39.60 cM)⁵ 80283¹ NM_030251.3¹ NP_084527.2¹ 88835915⁵
chicken (Gallus gallus)	Aves	ABTB1¹	ankyrin repeat and BTB (POZ) domain containing 1	71.98(n) 76.73(a)		416026 NM_001030598.1 NP_001025769.1
lizard (Anolis carolinensis)	Reptilia	ABTB1⁶	--	76(a)	1 ↔ 1	2(166073381-166109113)
zebrafish (Danio rerio)	Actinopterygii	LOC100536189¹	ankyrin repeat and BTB/POZ domain-containing protein more	68.77(n) 69.54(a)		100536189 XM_003199051.1 XP_003199099.1
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	(YIL001W)⁴ YIL001W¹	Putative protein of unknown function; contains a BTB/POZ more⁴ hypothetical protein¹	41.55(n)¹ 30.62(a)¹		9(353940-355481)⁴ 854816^{1, 4} NP_012265.3¹ NP_012265.1⁴
thale cress (Arabidopsis thaliana)	eudicotyledons	AT2G04740¹	ankyrin repeat-containing protein	43.13(n) 33.03(a)		815017 NM_126504.3 NP_178551.2
rice (Oryza sativa)	Liliopsida	Os06g0318200¹	hypothetical protein	43.45(n) 29.61(a)		4340880 NM_001064036.1 NP_001057501.1

ENSEMBL Gene Tree for ABTB1 (if available)
TreeFam Gene Tree for ABTB1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs75257499^1,2		--	124772953(+)	`GCGCAA/GAAGTG`	3	--	int¹		0	--	--	--	--
rs13080152^1,2	C	--	124774198(+)	`ACCTTC/TTGGCC`	4	L	nc-transcript-variantut5¹ syn¹ ese³		0	--	--	--	--
rs72967683^1,2	C,	--	124774319(+)	`AGCACC/TACGAT`	3	--	int¹		1		WA	2
rs80083970^1,2	F,	--	124774525(+)	`TCCTCC/TAGCAA`	3	--	int¹		1		NA	120
rs60645978^1,2	F,	--	124774663(+)	`GGCCTC/TGCTGG`	3	--	int¹		1		WA	118
rs34819557^1,2	C,F,	--	124775077(+)	`GATGGT/GGTCTC`	3	--	int¹		6		NA WA CSA	127
rs1370435^1,2	C,	--	124775178(+)	`GCCACG/ACCCAG`	3	--	int¹		2		CSA WA	120
rs72967686^1,2	C,F,	--	124775231(+)	`TTGATT/CGTCCT`	3	--	int¹		4		WA CSA	123
rs72967688^1,2	C,	--	124775479(+)	`AGATTC/TGGAGC`	3	--	int¹		1		WA	2
rs7349545^1,2	C,H	--	124776005(+)	`TGGAAG/AGGCAA`	5	/K	syn¹		6		NS EA NA	422

HapMap Linkage Disequilibrium report for ABTB1 (127391778 - 127399769 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ABTB1: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ABTB1

DNA2.0 Custom Variant and Variant Library Synthesis for ABTB1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ABTB1 for disorders About MalaCards

ABTB1 for disorders About GeneDecksing

OMIM gene information: 608308 OMIM disorders: --

Export disorders for ABTB1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for ABTB1 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with ABTB1)

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Molecular cloning and characterization of a novel human gene containing ankyrin repeat and double BTB/POZ domain. (PubMed id 10891360)^{1, 2, 3, 9} Dai K.-S.... Liew C.-C. (2000)
Growth-suppressive effects of BPOZ and EGR2, two genes involved in the PTEN signaling pathway. (PubMed id 11494141)^{1, 2, 3} Unoki M. and Nakamura Y. (2001)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)^{1, 2} Wan D....Gu J. (2004)
Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)¹ Bennett E.J....Harper J.W. (2010)
TdT interacting factor 1 enhances TdT ubiquitylation through recruitment of BPOZ-2 into nucleus from cytoplasm. (PubMed id 19930467)¹ Hayano T....Koiwai O. (2009)
Bood POZ containing gene type 2 is a human counterpart of yeast Btb3p and promotes the degradation of terminal deoxynucleotidyltransferase. (PubMed id 18429817)¹ Maezawa S....Koiwai O. (2008)
BPOZ-2 directly binds to eEF1A1 to promote eEF1A1 ubiquitylation and degradation and prevent translation. (PubMed id 18459963)¹ Koiwai K....Koiwai O. (2008)
Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)¹ Barbe L....Andersson-Svahn H. (2008)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 80325	HGNC: 18275	AceView: PODXL2andABTB1	Ensembl:ENSG00000114626	euGenes: HUgn80325
ECgene: ABTB1	H-InvDB: ABTB1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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Name	Description
PharmGKB entry for ABTB1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for ABTB1	Genetics and Cytogenetics in Oncology and Haematology

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Patent Information for ABTB1 gene:
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ABTB1 Gene

ankyrin repeat and BTB (POZ) domain containing 1

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ankyrin repeat and BTB (POZ) domain containing 1

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