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Q969K4

- ABTB1_HUMAN

UniProt

Q969K4 - ABTB1_HUMAN

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Protein
Ankyrin repeat and BTB/POZ domain-containing protein 1
Gene
ABTB1, BPOZ, PP2259
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at transcript 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

  1. translation elongation factor activity Source: UniProtKB-KW
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:ABTB1
Synonyms:BPOZ
ORF Names:PP2259
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:18275. ABTB1.

Subcellular locationi

Cytoplasm 1 Publication

GO - Cellular componenti

  1. cytoplasm Source: HPA
  2. nucleolus Source: HPA
  3. plasma membrane Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA24418.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 478478Ankyrin repeat and BTB/POZ domain-containing protein 1
PRO_0000248267Add
BLAST

Proteomic databases

PaxDbiQ969K4.
PRIDEiQ969K4.

PTM databases

PhosphoSiteiQ969K4.

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

ArrayExpressiQ969K4.
BgeeiQ969K4.
CleanExiHS_ABTB1.
GenevestigatoriQ969K4.

Organism-specific databases

HPAiHPA035022.
HPA035023.

Interactioni

Protein-protein interaction databases

BioGridi123237. 4 interactions.
IntActiQ969K4. 2 interactions.
MINTiMINT-1193021.
STRINGi9606.ENSP00000232744.

Structurei

3D structure databases

ProteinModelPortaliQ969K4.
SMRiQ969K4. Positions 6-91, 106-182, 241-404.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati1 – 3131ANK 1
Add
BLAST
Repeati35 – 6430ANK 2
Add
BLAST
Domaini115 – 18268BTB 1
Add
BLAST
Domaini272 – 34675BTB 2
Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili451 – 47727 Reviewed prediction
Add
BLAST

Sequence similaritiesi

Contains 2 ANK repeats.
Contains 2 BTB (POZ) domains.

Keywords - Domaini

ANK repeat, Coiled coil, Repeat

Phylogenomic databases

eggNOGiCOG0666.
HOGENOMiHOG000253956.
HOVERGENiHBG059559.
InParanoidiQ969K4.
KOiK10520.
OMAiDIRYYLS.
PhylomeDBiQ969K4.
TreeFamiTF329194.

Family and domain databases

Gene3Di1.25.40.20. 1 hit.
3.30.710.10. 2 hits.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR013069. BTB_POZ.
[Graphical view]
PfamiPF00651. 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. Align

Isoform 22 Publications (identifier: Q969K4-1) [UniParc]FASTAAdd to Basket

Also known as: BPOZ-2

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

MDTSDLFASC RKGDVGRVRY LLEQRDVEVN VRDKWDSTPL YYACLCGHEE    50
LVLYLLANGA RCEANTFDGE RCLYGALSDP IRRALRDYKQ VTASCRRRDY 100
YDDFLQRLLE QGIHSDVVFV VHGKPFRVHR CVLGARSAYF ANMLDTKWKG 150
KSVVVLRHPL INPVAFGALL QYLYTGRLDI GVEHVSDCER LAKQCQLWDL 200
LSDLEAKCEK VSEFVASKPG TCVKVLTIEP PPADPRLRED MALLADCALP 250
PELRGDLWEL PFPCPDGFNS CPDICFRVAG CSFLCHKAFF CGRSDYFRAL 300
LDDHFRESEE PATSGGPPAV TLHGISPDVF THVLYYMYSD HTELSPEAAY 350
DVLSVADMYL LPGLKRLCGR SLAQMLDEDT VVGVWRVAKL FRLARLEDQC 400
TEYMAKVIEK LVEREDFVEA VKEEAAAVAA RQETDSIPLV DDIRFHVAST 450
VQTYSAIEEA QQRLRALEDL LVSIGLDC 478
Length:478
Mass (Da):53,979
Last modified:December 1, 2001 - v1
Checksum:iBF2B9959A5BF0BB5
GO
Isoform 12 Publications (identifier: Q969K4-2) [UniParc]FASTAAdd to Basket

Also known as: BPOZ-1

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-3

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.

Show »
Length:405
Mass (Da):44,428
Checksum:iF85371BD5B10F7D8
GO

Sequence cautioni

The sequence AAQ04661.1 differs from that shown. Reason: Frameshift at positions 202 and 212.

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 142142Missing in isoform 1. 2 Publications
VSP_052148Add
BLAST
Alternative sequencei1 – 4040MDTSD…DSTPL → MWAECGTCWSSETWR in isoform 3. 1 Publication
VSP_052149Add
BLAST
Alternative sequencei24 – 5027Missing in isoform 4. 1 Publication
VSP_052150Add
BLAST
Alternative sequencei87 – 196110DYKQV…AKQCQ → LCGHEE in isoform 4. 1 Publication
VSP_052151Add
BLAST
Alternative sequencei255 – 28733Missing in isoform 4. 1 Publication
VSP_052152Add
BLAST
Alternative sequencei468 – 47811EDLLVSIGLDC → LETSMCMRLCAALLPAPCTL RASWGVRGAQWGFSSLHEPG DPRGGSIWDEPPPPNAQASP QDPGGGHHSGKPGVGVGFGL STFLLQIPPTHPSPKSSPLA LA in isoform 4. 1 Publication
VSP_052153Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_006713835.1. XM_006713772.1. [Q969K4-2]
UniGeneiHs.107812.

Genome annotation databases

EnsembliENST00000232744; ENSP00000232744; ENSG00000114626. [Q969K4-1]
ENST00000393363; ENSP00000377030; ENSG00000114626. [Q969K4-2]
ENST00000453791; ENSP00000412684; ENSG00000114626. [Q969K4-2]
ENST00000468137; ENSP00000417366; ENSG00000114626. [Q969K4-2]
GeneIDi80325.
KEGGihsa:80325.
UCSCiuc003ejr.3. human. [Q969K4-1]
uc003ejs.3. human. [Q969K4-3]

Polymorphism databases

DMDMi74751721.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS3045.1. [Q969K4-1 ]
CCDS46901.1. [Q969K4-2 ]
PIRi JC7326.
RefSeqi NP_115937.1. NM_032548.3. [Q969K4-2 ]
NP_742024.1. NM_172027.2. [Q969K4-1 ]
XP_006713835.1. XM_006713772.1. [Q969K4-2 ]
UniGenei Hs.107812.

3D structure databases

ProteinModelPortali Q969K4.
SMRi Q969K4. Positions 6-91, 106-182, 241-404.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123237. 4 interactions.
IntActi Q969K4. 2 interactions.
MINTi MINT-1193021.
STRINGi 9606.ENSP00000232744.

PTM databases

PhosphoSitei Q969K4.

Polymorphism databases

DMDMi 74751721.

Proteomic databases

PaxDbi Q969K4.
PRIDEi Q969K4.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000232744 ; ENSP00000232744 ; ENSG00000114626 . [Q969K4-1 ]
ENST00000393363 ; ENSP00000377030 ; ENSG00000114626 . [Q969K4-2 ]
ENST00000453791 ; ENSP00000412684 ; ENSG00000114626 . [Q969K4-2 ]
ENST00000468137 ; ENSP00000417366 ; ENSG00000114626 . [Q969K4-2 ]
GeneIDi 80325.
KEGGi hsa:80325.
UCSCi uc003ejr.3. human. [Q969K4-1 ]
uc003ejs.3. human. [Q969K4-3 ]

Organism-specific databases

CTDi 80325.
GeneCardsi GC03P127391.
HGNCi HGNC:18275. ABTB1.
HPAi HPA035022.
HPA035023.
MIMi 608308. gene.
neXtProti NX_Q969K4.
PharmGKBi PA24418.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0666.
HOGENOMi HOG000253956.
HOVERGENi HBG059559.
InParanoidi Q969K4.
KOi K10520.
OMAi DIRYYLS.
PhylomeDBi Q969K4.
TreeFami TF329194.

Miscellaneous databases

GeneWikii ABTB1.
GenomeRNAii 80325.
NextBioi 70855.
PROi Q969K4.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q969K4.
Bgeei Q969K4.
CleanExi HS_ABTB1.
Genevestigatori Q969K4.

Family and domain databases

Gene3Di 1.25.40.20. 1 hit.
3.30.710.10. 2 hits.
InterProi IPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR013069. BTB_POZ.
[Graphical view ]
Pfami PF00651. BTB. 2 hits.
[Graphical view ]
SMARTi SM00248. ANK. 2 hits.
SM00225. BTB. 2 hits.
[Graphical view ]
SUPFAMi SSF48403. SSF48403. 1 hit.
SSF54695. SSF54695. 2 hits.
PROSITEi PS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 1 hit.
PS50097. BTB. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning and characterization of a novel human gene containing ankyrin repeat and double BTB/POZ domain."
    Dai K.-S., Wei W., Liew C.-C.
    Biochem. Biophys. Res. Commun. 273:991-996(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, TISSUE SPECIFICITY.
    Tissue: Leukocyte.
  2. "Growth-suppressive effects of BPOZ and EGR2, two genes involved in the PTEN signaling pathway."
    Unoki M., Nakamura Y.
    Oncogene 20:4457-4465(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3), FUNCTION, SUBCELLULAR LOCATION.
  3. "Large-scale cDNA transfection screening for genes related to cancer development and progression."
    Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.
    , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.
    Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
    Tissue: Spleen.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: B-cell.
  7. "Translation elongation factor 1A binding protein."
    Mansilla F., Clark B.F.C., Knudsen C.R.
    Thesis (2001), University of Aarhus, Denmark
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    Tissue: Skeletal muscle.

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: July 9, 2014
This is version 102 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

External Data

Dasty 3

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