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Q969K4 (ABTB1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 99. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Ankyrin repeat and BTB/POZ domain-containing protein 1
Alternative name(s):
Elongation factor 1A-binding protein
Gene names
Name:ABTB1
Synonyms:BPOZ
ORF Names:PP2259
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length478 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

May act as a mediator of the PTEN growth-suppressive signaling pathway. May play a role in developmental processes. Ref.1 Ref.2

Subcellular location

Cytoplasm Ref.2.

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. Ref.1

Sequence similarities

Contains 2 ANK repeats.

Contains 2 BTB (POZ) domains.

Sequence caution

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

Ontologies

Keywords
   Biological processProtein biosynthesis
   Cellular componentCytoplasm
   Coding sequence diversityAlternative splicing
   DomainANK repeat
Coiled coil
Repeat
   Molecular functionElongation factor
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentcytoplasm

Inferred from direct assay. Source: HPA

nucleolus

Inferred from direct assay. Source: HPA

plasma membrane

Inferred from direct assay. Source: HPA

   Molecular_functiontranslation elongation factor activity

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 2 Ref.1 Ref.2 (identifier: Q969K4-1)

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.
Isoform 1 Ref.2 Ref.3 (identifier: Q969K4-2)

Also known as: BPOZ-1;

The sequence of this isoform differs from the canonical sequence as follows:
     1-142: Missing.
Isoform 3 Ref.2 (identifier: Q969K4-3)

Also known as: BPOZ-3;

The sequence of this isoform differs from the canonical sequence as follows:
     1-40: MDTSDLFASCRKGDVGRVRYLLEQRDVEVNVRDKWDSTPL → MWAECGTCWSSETWR
Isoform 4 Ref.4 (identifier: Q969K4-4)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 478478Ankyrin repeat and BTB/POZ domain-containing protein 1
PRO_0000248267

Regions

Repeat1 – 3131ANK 1
Repeat35 – 6430ANK 2
Domain115 – 18268BTB 1
Domain272 – 34675BTB 2
Coiled coil451 – 47727 Potential

Natural variations

Alternative sequence1 – 142142Missing in isoform 1. Ref.2 Ref.3
VSP_052148
Alternative sequence1 – 4040MDTSD…DSTPL → MWAECGTCWSSETWR in isoform 3. Ref.2
VSP_052149
Alternative sequence24 – 5027Missing in isoform 4. Ref.4
VSP_052150
Alternative sequence87 – 196110DYKQV…AKQCQ → LCGHEE in isoform 4. Ref.4
VSP_052151
Alternative sequence255 – 28733Missing in isoform 4. Ref.4
VSP_052152
Alternative sequence468 – 47811EDLLVSIGLDC → LETSMCMRLCAALLPAPCTL RASWGVRGAQWGFSSLHEPG DPRGGSIWDEPPPPNAQASP QDPGGGHHSGKPGVGVGFGL STFLLQIPPTHPSPKSSPLA LA in isoform 4. Ref.4
VSP_052153

Sequences

Sequence LengthMass (Da)Tools
Isoform 2 (BPOZ-2) [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: BF2B9959A5BF0BB5

FASTA47853,979
        10         20         30         40         50         60 
MDTSDLFASC RKGDVGRVRY LLEQRDVEVN VRDKWDSTPL YYACLCGHEE LVLYLLANGA 

        70         80         90        100        110        120 
RCEANTFDGE RCLYGALSDP IRRALRDYKQ VTASCRRRDY YDDFLQRLLE QGIHSDVVFV 

       130        140        150        160        170        180 
VHGKPFRVHR CVLGARSAYF ANMLDTKWKG KSVVVLRHPL INPVAFGALL QYLYTGRLDI 

       190        200        210        220        230        240 
GVEHVSDCER LAKQCQLWDL LSDLEAKCEK VSEFVASKPG TCVKVLTIEP PPADPRLRED 

       250        260        270        280        290        300 
MALLADCALP PELRGDLWEL PFPCPDGFNS CPDICFRVAG CSFLCHKAFF CGRSDYFRAL 

       310        320        330        340        350        360 
LDDHFRESEE PATSGGPPAV TLHGISPDVF THVLYYMYSD HTELSPEAAY DVLSVADMYL 

       370        380        390        400        410        420 
LPGLKRLCGR SLAQMLDEDT VVGVWRVAKL FRLARLEDQC TEYMAKVIEK LVEREDFVEA 

       430        440        450        460        470 
VKEEAAAVAA RQETDSIPLV DDIRFHVAST VQTYSAIEEA QQRLRALEDL LVSIGLDC 

« Hide

Isoform 1 (BPOZ-1) [UniParc].

Checksum: 71B2545E5F3EB18A
Show »

FASTA33637,576
Isoform 3 (BPOZ-3) [UniParc].

Checksum: 5EE45A2DA214325F
Show »

FASTA45351,141
Isoform 4 [UniParc].

Checksum: F85371BD5B10F7D8
Show »

FASTA40544,428

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRJC7326.
RefSeqNP_115937.1. NM_032548.3.
NP_742024.1. NM_172027.2.
UniGeneHs.107812.

3D structure databases

ProteinModelPortalQ969K4.
SMRQ969K4. Positions 4-89, 106-200, 241-477.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123237. 4 interactions.
IntActQ969K4. 2 interactions.
MINTMINT-1193021.
STRING9606.ENSP00000232744.

PTM databases

PhosphoSiteQ969K4.

Polymorphism databases

DMDM74751721.

Proteomic databases

PaxDbQ969K4.
PRIDEQ969K4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000232744; ENSP00000232744; ENSG00000114626. [Q969K4-1]
ENST00000393363; ENSP00000377030; ENSG00000114626. [Q969K4-2]
ENST00000453791; ENSP00000412684; ENSG00000114626. [Q969K4-2]
ENST00000468137; ENSP00000417366; ENSG00000114626. [Q969K4-2]
GeneID80325.
KEGGhsa:80325.
UCSCuc003ejr.3. human. [Q969K4-1]
uc003ejs.3. human. [Q969K4-3]

Organism-specific databases

CTD80325.
GeneCardsGC03P127391.
HGNCHGNC:18275. ABTB1.
HPAHPA035022.
HPA035023.
MIM608308. gene.
neXtProtNX_Q969K4.
PharmGKBPA24418.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0666.
HOGENOMHOG000253956.
HOVERGENHBG059559.
InParanoidQ969K4.
KOK10520.
OMADIRYYLS.
PhylomeDBQ969K4.
TreeFamTF329194.

Gene expression databases

ArrayExpressQ969K4.
BgeeQ969K4.
CleanExHS_ABTB1.
GenevestigatorQ969K4.

Family and domain databases

Gene3D1.25.40.20. 1 hit.
3.30.710.10. 2 hits.
InterProIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR013069. BTB_POZ.
[Graphical view]
PfamPF00651. BTB. 2 hits.
[Graphical view]
SMARTSM00248. ANK. 2 hits.
SM00225. BTB. 2 hits.
[Graphical view]
SUPFAMSSF48403. SSF48403. 1 hit.
SSF54695. SSF54695. 2 hits.
PROSITEPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 1 hit.
PS50097. BTB. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiABTB1.
GenomeRNAi80325.
NextBio70855.
PROQ969K4.
SOURCESearch...

Entry information

Entry nameABTB1_HUMAN
AccessionPrimary (citable) accession number: Q969K4
Secondary accession number(s): D3DNB0 expand/collapse secondary AC list , Q6ZNU9, Q71MF1, Q96S62, Q96S63
Entry history
Integrated into UniProtKB/Swiss-Prot: September 5, 2006
Last sequence update: December 1, 2001
Last modified: March 19, 2014
This is version 99 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM