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Protein

Ankyrin repeat and BTB/POZ domain-containing protein 1

Gene

ABTB1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May act as a mediator of the PTEN growth-suppressive signaling pathway. May play a role in developmental processes.2 Publications

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Elongation factor

Keywords - Biological processi

Protein biosynthesis

Names & Taxonomyi

Protein namesi
Recommended name:
Ankyrin repeat and BTB/POZ domain-containing protein 1
Alternative name(s):
Elongation factor 1A-binding protein
Gene namesi
Name:ABTB1Imported
Synonyms:BPOZ1 Publication
ORF Names:PP2259
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:18275. ABTB1.

Subcellular locationi

  • Cytoplasm 1 Publication

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000114626.
PharmGKBiPA24418.

Polymorphism and mutation databases

BioMutaiABTB1.
DMDMi74751721.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002482671 – 478Ankyrin repeat and BTB/POZ domain-containing protein 1Add BLAST478

Proteomic databases

PaxDbiQ969K4.
PeptideAtlasiQ969K4.
PRIDEiQ969K4.

PTM databases

iPTMnetiQ969K4.
PhosphoSitePlusiQ969K4.

Expressioni

Tissue specificityi

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.1 Publication

Gene expression databases

BgeeiENSG00000114626.
CleanExiHS_ABTB1.
ExpressionAtlasiQ969K4. baseline and differential.
GenevisibleiQ969K4. HS.

Organism-specific databases

HPAiHPA035022.
HPA035023.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
CUL3Q136183EBI-7223971,EBI-456129
EEF1A2Q056393EBI-7223971,EBI-354943

GO - Molecular functioni

Protein-protein interaction databases

BioGridi123237. 9 interactors.
IntActiQ969K4. 4 interactors.
MINTiMINT-1193021.
STRINGi9606.ENSP00000232744.

Structurei

3D structure databases

ProteinModelPortaliQ969K4.
SMRiQ969K4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati1 – 31ANK 1Sequence analysisAdd BLAST31
Repeati35 – 64ANK 2Sequence analysisAdd BLAST30
Domaini115 – 182BTB 1PROSITE-ProRule annotationAdd BLAST68
Domaini272 – 346BTB 2PROSITE-ProRule annotationAdd BLAST75

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili451 – 477Sequence analysisAdd BLAST27

Sequence similaritiesi

Contains 2 ANK repeats.PROSITE-ProRule annotation
Contains 2 BTB (POZ) domains.PROSITE-ProRule annotation

Keywords - Domaini

ANK repeat, Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG0511. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00390000017131.
HOGENOMiHOG000253956.
HOVERGENiHBG059559.
InParanoidiQ969K4.
KOiK10520.
OMAiFLYTERA.
OrthoDBiEOG091G08AD.
PhylomeDBiQ969K4.
TreeFamiTF329194.

Family and domain databases

Gene3Di1.25.40.20. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR000210. BTB/POZ_dom.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PfamiPF12796. Ank_2. 1 hit.
PF00651. BTB. 2 hits.
[Graphical view]
SMARTiSM00248. ANK. 2 hits.
SM00225. BTB. 2 hits.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
SSF54695. SSF54695. 2 hits.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 1 hit.
PS50097. BTB. 2 hits.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 22 Publications (identifier: Q969K4-1) [UniParc]FASTAAdd to basket
Also known as: BPOZ-21 Publication

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MDTSDLFASC RKGDVGRVRY LLEQRDVEVN VRDKWDSTPL YYACLCGHEE
60 70 80 90 100
LVLYLLANGA RCEANTFDGE RCLYGALSDP IRRALRDYKQ VTASCRRRDY
110 120 130 140 150
YDDFLQRLLE QGIHSDVVFV VHGKPFRVHR CVLGARSAYF ANMLDTKWKG
160 170 180 190 200
KSVVVLRHPL INPVAFGALL QYLYTGRLDI GVEHVSDCER LAKQCQLWDL
210 220 230 240 250
LSDLEAKCEK VSEFVASKPG TCVKVLTIEP PPADPRLRED MALLADCALP
260 270 280 290 300
PELRGDLWEL PFPCPDGFNS CPDICFRVAG CSFLCHKAFF CGRSDYFRAL
310 320 330 340 350
LDDHFRESEE PATSGGPPAV TLHGISPDVF THVLYYMYSD HTELSPEAAY
360 370 380 390 400
DVLSVADMYL LPGLKRLCGR SLAQMLDEDT VVGVWRVAKL FRLARLEDQC
410 420 430 440 450
TEYMAKVIEK LVEREDFVEA VKEEAAAVAA RQETDSIPLV DDIRFHVAST
460 470
VQTYSAIEEA QQRLRALEDL LVSIGLDC
Length:478
Mass (Da):53,979
Last modified:December 1, 2001 - v1
Checksum:iBF2B9959A5BF0BB5
GO
Isoform 11 Publication (identifier: Q969K4-2) [UniParc]FASTAAdd to basket
Also known as: BPOZ-11 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     1-142: Missing.

Show »
Length:336
Mass (Da):37,576
Checksum:i71B2545E5F3EB18A
GO
Isoform 31 Publication (identifier: Q969K4-3) [UniParc]FASTAAdd to basket
Also known as: BPOZ-31 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     1-40: MDTSDLFASCRKGDVGRVRYLLEQRDVEVNVRDKWDSTPL → MWAECGTCWSSETWR

Show »
Length:453
Mass (Da):51,141
Checksum:i5EE45A2DA214325F
GO
Isoform 41 Publication (identifier: Q969K4-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     24-50: Missing.
     87-196: DYKQVTASCR...DCERLAKQCQ → LCGHEE
     255-287: Missing.
     468-478: EDLLVSIGLDC → LETSMCMRLC...SPKSSPLALA

Note: No experimental confirmation available.Curated
Show »
Length:405
Mass (Da):44,428
Checksum:iF85371BD5B10F7D8
GO

Sequence cautioni

The sequence AAQ04661 differs from that shown. Reason: Frameshift at positions 202 and 212.Curated

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0521481 – 142Missing in isoform 1. 2 PublicationsAdd BLAST142
Alternative sequenceiVSP_0521491 – 40MDTSD…DSTPL → MWAECGTCWSSETWR in isoform 3. 1 PublicationAdd BLAST40
Alternative sequenceiVSP_05215024 – 50Missing in isoform 4. 1 PublicationAdd BLAST27
Alternative sequenceiVSP_05215187 – 196DYKQV…AKQCQ → LCGHEE in isoform 4. 1 PublicationAdd BLAST110
Alternative sequenceiVSP_052152255 – 287Missing in isoform 4. 1 PublicationAdd BLAST33
Alternative sequenceiVSP_052153468 – 478EDLLVSIGLDC → LETSMCMRLCAALLPAPCTL RASWGVRGAQWGFSSLHEPG DPRGGSIWDEPPPPNAQASP QDPGGGHHSGKPGVGVGFGL STFLLQIPPTHPSPKSSPLA LA in isoform 4. 1 PublicationAdd BLAST11

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB053324 mRNA. Translation: BAB55648.1.
AB053325 mRNA. Translation: BAB55649.1.
AB053326 mRNA. Translation: BAB55650.1.
AF447886 mRNA. Translation: AAQ04661.1. Frameshift.
AK130594 mRNA. Translation: BAC85392.1.
CH471052 Genomic DNA. Translation: EAW79333.1.
CH471052 Genomic DNA. Translation: EAW79334.1.
BC011858 mRNA. Translation: AAH11858.1.
AF297986 mRNA. Translation: AAK57478.1.
CCDSiCCDS3045.1. [Q969K4-1]
CCDS46901.1. [Q969K4-2]
PIRiJC7326.
RefSeqiNP_115937.1. NM_032548.3. [Q969K4-2]
NP_742024.1. NM_172027.2. [Q969K4-1]
XP_011511515.1. XM_011513213.1. [Q969K4-2]
XP_016862776.1. XM_017007287.1. [Q969K4-2]
UniGeneiHs.107812.

Genome annotation databases

EnsembliENST00000232744; ENSP00000232744; ENSG00000114626. [Q969K4-1]
ENST00000453791; ENSP00000412684; ENSG00000114626. [Q969K4-2]
ENST00000468137; ENSP00000417366; ENSG00000114626. [Q969K4-2]
GeneIDi80325.
KEGGihsa:80325.
UCSCiuc003ejr.4. human. [Q969K4-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB053324 mRNA. Translation: BAB55648.1.
AB053325 mRNA. Translation: BAB55649.1.
AB053326 mRNA. Translation: BAB55650.1.
AF447886 mRNA. Translation: AAQ04661.1. Frameshift.
AK130594 mRNA. Translation: BAC85392.1.
CH471052 Genomic DNA. Translation: EAW79333.1.
CH471052 Genomic DNA. Translation: EAW79334.1.
BC011858 mRNA. Translation: AAH11858.1.
AF297986 mRNA. Translation: AAK57478.1.
CCDSiCCDS3045.1. [Q969K4-1]
CCDS46901.1. [Q969K4-2]
PIRiJC7326.
RefSeqiNP_115937.1. NM_032548.3. [Q969K4-2]
NP_742024.1. NM_172027.2. [Q969K4-1]
XP_011511515.1. XM_011513213.1. [Q969K4-2]
XP_016862776.1. XM_017007287.1. [Q969K4-2]
UniGeneiHs.107812.

3D structure databases

ProteinModelPortaliQ969K4.
SMRiQ969K4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123237. 9 interactors.
IntActiQ969K4. 4 interactors.
MINTiMINT-1193021.
STRINGi9606.ENSP00000232744.

PTM databases

iPTMnetiQ969K4.
PhosphoSitePlusiQ969K4.

Polymorphism and mutation databases

BioMutaiABTB1.
DMDMi74751721.

Proteomic databases

PaxDbiQ969K4.
PeptideAtlasiQ969K4.
PRIDEiQ969K4.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000232744; ENSP00000232744; ENSG00000114626. [Q969K4-1]
ENST00000453791; ENSP00000412684; ENSG00000114626. [Q969K4-2]
ENST00000468137; ENSP00000417366; ENSG00000114626. [Q969K4-2]
GeneIDi80325.
KEGGihsa:80325.
UCSCiuc003ejr.4. human. [Q969K4-1]

Organism-specific databases

CTDi80325.
GeneCardsiABTB1.
HGNCiHGNC:18275. ABTB1.
HPAiHPA035022.
HPA035023.
MIMi608308. gene.
neXtProtiNX_Q969K4.
OpenTargetsiENSG00000114626.
PharmGKBiPA24418.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0511. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00390000017131.
HOGENOMiHOG000253956.
HOVERGENiHBG059559.
InParanoidiQ969K4.
KOiK10520.
OMAiFLYTERA.
OrthoDBiEOG091G08AD.
PhylomeDBiQ969K4.
TreeFamiTF329194.

Miscellaneous databases

GeneWikiiABTB1.
GenomeRNAii80325.
PROiQ969K4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000114626.
CleanExiHS_ABTB1.
ExpressionAtlasiQ969K4. baseline and differential.
GenevisibleiQ969K4. HS.

Family and domain databases

Gene3Di1.25.40.20. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR000210. BTB/POZ_dom.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PfamiPF12796. Ank_2. 1 hit.
PF00651. BTB. 2 hits.
[Graphical view]
SMARTiSM00248. ANK. 2 hits.
SM00225. BTB. 2 hits.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
SSF54695. SSF54695. 2 hits.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 1 hit.
PS50097. BTB. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiABTB1_HUMAN
AccessioniPrimary (citable) accession number: Q969K4
Secondary accession number(s): D3DNB0
, Q6ZNU9, Q71MF1, Q96S62, Q96S63
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 5, 2006
Last sequence update: December 1, 2001
Last modified: November 2, 2016
This is version 123 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.