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Protein

Ankyrin repeat and BTB/POZ domain-containing protein 1

Gene

ABTB1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Molecular functionElongation factor
Biological processProtein 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

EuPathDBiHostDB:ENSG00000114626.17
HGNCiHGNC:18275 ABTB1
MIMi608308 gene
neXtProtiNX_Q969K4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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
ProteomicsDBi75781
75782 [Q969K4-2]
75783 [Q969K4-3]
75784 [Q969K4-4]

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 Expressed in 189 organ(s), highest expression level in prostate gland
CleanExiHS_ABTB1
ExpressionAtlasiQ969K4 baseline and differential
GenevisibleiQ969K4 HS

Organism-specific databases

HPAiHPA035022
HPA035023

Interactioni

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi123237, 10 interactors
IntActiQ969K4, 5 interactors
MINTiQ969K4
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

Keywords - Domaini

ANK repeat, Coiled coil, Repeat

Phylogenomic databases

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

Family and domain databases

CDDicd00204 ANK, 1 hit
Gene3Di1.25.40.20, 1 hit
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR000210 BTB/POZ_dom
IPR011333 SKP1/BTB/POZ_sf
PfamiView protein in Pfam
PF12796 Ank_2, 1 hit
PF00651 BTB, 2 hits
SMARTiView protein in SMART
SM00248 ANK, 2 hits
SM00225 BTB, 2 hits
SUPFAMiSSF48403 SSF48403, 1 hit
SSF54695 SSF54695, 2 hits
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 1 hit
PS50097 BTB, 2 hits

Sequences (4+)i

Sequence statusi: Complete.

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

This entry has 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C4W8H7C4W8_HUMAN
Ankyrin repeat and BTB/POZ domain-c...
ABTB1
141Annotation score:
F2Z3F5F2Z3F5_HUMAN
Ankyrin repeat and BTB/POZ domain-c...
ABTB1
57Annotation score:

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

Similar proteinsi

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, 10 interactors
IntActiQ969K4, 5 interactors
MINTiQ969K4
STRINGi9606.ENSP00000232744

PTM databases

iPTMnetiQ969K4
PhosphoSitePlusiQ969K4

Polymorphism and mutation databases

BioMutaiABTB1
DMDMi74751721

Proteomic databases

PaxDbiQ969K4
PeptideAtlasiQ969K4
PRIDEiQ969K4
ProteomicsDBi75781
75782 [Q969K4-2]
75783 [Q969K4-3]
75784 [Q969K4-4]

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
EuPathDBiHostDB:ENSG00000114626.17
GeneCardsiABTB1
HGNCiHGNC:18275 ABTB1
HPAiHPA035022
HPA035023
MIMi608308 gene
neXtProtiNX_Q969K4
OpenTargetsiENSG00000114626
PharmGKBiPA24418
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

GeneWikiiABTB1
GenomeRNAii80325
PROiPR:Q969K4
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000114626 Expressed in 189 organ(s), highest expression level in prostate gland
CleanExiHS_ABTB1
ExpressionAtlasiQ969K4 baseline and differential
GenevisibleiQ969K4 HS

Family and domain databases

CDDicd00204 ANK, 1 hit
Gene3Di1.25.40.20, 1 hit
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR000210 BTB/POZ_dom
IPR011333 SKP1/BTB/POZ_sf
PfamiView protein in Pfam
PF12796 Ank_2, 1 hit
PF00651 BTB, 2 hits
SMARTiView protein in SMART
SM00248 ANK, 2 hits
SM00225 BTB, 2 hits
SUPFAMiSSF48403 SSF48403, 1 hit
SSF54695 SSF54695, 2 hits
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 1 hit
PS50097 BTB, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiABTB1_HUMAN
AccessioniPrimary (citable) accession number: Q969K4
Secondary accession number(s): D3DNB0
, Q6ZNU9, Q71MF1, Q96S62, Q96S63
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 5, 2006
Last sequence update: December 1, 2001
Last modified: September 12, 2018
This is version 137 of the entry and version 1 of the sequence. See 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
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