ID   ABTB1_HUMAN             Reviewed;         478 AA.
AC   Q969K4; D3DNB0; Q6ZNU9; Q71MF1; Q96S62; Q96S63;
DT   05-SEP-2006, integrated into UniProtKB/Swiss-Prot.
DT   01-DEC-2001, sequence version 1.
DT   27-MAR-2024, entry version 167.
DE   RecName: Full=Ankyrin repeat and BTB/POZ domain-containing protein 1;
DE   AltName: Full=Elongation factor 1A-binding protein;
GN   Name=ABTB1 {ECO:0000312|HGNC:HGNC:18275};
GN   Synonyms=BPOZ {ECO:0000303|PubMed:11494141}; ORFNames=PP2259;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1] {ECO:0000305, ECO:0000312|PIR:JC7326}
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, AND TISSUE SPECIFICITY.
RC   TISSUE=Leukocyte {ECO:0000269|PubMed:10891360};
RX   PubMed=10891360; DOI=10.1006/bbrc.2000.3053;
RA   Dai K.-S., Wei W., Liew C.-C.;
RT   "Molecular cloning and characterization of a novel human gene containing
RT   ankyrin repeat and double BTB/POZ domain.";
RL   Biochem. Biophys. Res. Commun. 273:991-996(2000).
RN   [2] {ECO:0000305, ECO:0000312|EMBL:BAB55649.1}
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3), FUNCTION, AND SUBCELLULAR
RP   LOCATION.
RX   PubMed=11494141; DOI=10.1038/sj.onc.1204608;
RA   Unoki M., Nakamura Y.;
RT   "Growth-suppressive effects of BPOZ and EGR2, two genes involved in the
RT   PTEN signaling pathway.";
RL   Oncogene 20:4457-4465(2001).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX   PubMed=15498874; DOI=10.1073/pnas.0404089101;
RA   Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X.,
RA   Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.,
RA   Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.;
RT   "Large-scale cDNA transfection screening for genes related to cancer
RT   development and progression.";
RL   Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004).
RN   [4] {ECO:0000305, ECO:0000312|EMBL:BAC85392.1}
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
RC   TISSUE=Spleen {ECO:0000312|EMBL:BAC85392.1};
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA   Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA   Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA   Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA   Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA   Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA   Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA   Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA   Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA   Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA   Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA   Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA   Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA   Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA   Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA   Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA   Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA   Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA   Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [5] {ECO:0000305, ECO:0000312|EMBL:AAQ04661.1}
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA   Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA   Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA   Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA   Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA   Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA   Hunkapiller M.W., Myers E.W., Venter J.C.;
RL   Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN   [6] {ECO:0000305, ECO:0000312|EMBL:AAH11858.1}
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC   TISSUE=B-cell {ECO:0000312|EMBL:AAH11858.1};
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [7] {ECO:0000305, ECO:0000312|EMBL:AAK57478.1}
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RC   TISSUE=Skeletal muscle {ECO:0000312|EMBL:AAK57478.1};
RA   Mansilla F., Clark B.F.C., Knudsen C.R.;
RT   "Translation elongation factor 1A binding protein.";
RL   Thesis (2001), University of Aarhus, Denmark.
CC   -!- FUNCTION: May act as a mediator of the PTEN growth-suppressive
CC       signaling pathway. May play a role in developmental processes.
CC       {ECO:0000269|PubMed:10891360, ECO:0000269|PubMed:11494141}.
CC   -!- INTERACTION:
CC       Q969K4; P54253: ATXN1; NbExp=3; IntAct=EBI-7223971, EBI-930964;
CC       Q969K4; Q13618: CUL3; NbExp=5; IntAct=EBI-7223971, EBI-456129;
CC       Q969K4; Q05639: EEF1A2; NbExp=9; IntAct=EBI-7223971, EBI-354943;
CC       Q969K4; P29692-2: EEF1D; NbExp=4; IntAct=EBI-7223971, EBI-5280572;
CC       Q969K4; Q13148: TARDBP; NbExp=3; IntAct=EBI-7223971, EBI-372899;
CC   -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11494141}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=4;
CC       Name=2 {ECO:0000269|PubMed:10891360, ECO:0000269|PubMed:11494141};
CC       Synonyms=BPOZ-2 {ECO:0000269|PubMed:11494141};
CC         IsoId=Q969K4-1; Sequence=Displayed;
CC       Name=1 {ECO:0000269|PubMed:11494141}; Synonyms=BPOZ-1
CC       {ECO:0000269|PubMed:11494141};
CC         IsoId=Q969K4-2; Sequence=VSP_052148;
CC       Name=3 {ECO:0000269|PubMed:11494141}; Synonyms=BPOZ-3
CC       {ECO:0000269|PubMed:11494141};
CC         IsoId=Q969K4-3; Sequence=VSP_052149;
CC       Name=4 {ECO:0000269|PubMed:14702039};
CC         IsoId=Q969K4-4; Sequence=VSP_052150, VSP_052151, VSP_052152,
CC                                  VSP_052153;
CC   -!- TISSUE SPECIFICITY: Ubiquitously expressed in all fetal tissues
CC       examined including heart, brain, liver, and kidney. Also expressed at
CC       lower levels in both adult heart and hypertrophic heart.
CC       {ECO:0000269|PubMed:10891360}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAQ04661.1; Type=Frameshift; Evidence={ECO:0000305};
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DR   EMBL; AB053324; BAB55648.1; -; mRNA.
DR   EMBL; AB053325; BAB55649.1; -; mRNA.
DR   EMBL; AB053326; BAB55650.1; -; mRNA.
DR   EMBL; AF447886; AAQ04661.1; ALT_FRAME; mRNA.
DR   EMBL; AK130594; BAC85392.1; -; mRNA.
DR   EMBL; CH471052; EAW79333.1; -; Genomic_DNA.
DR   EMBL; CH471052; EAW79334.1; -; Genomic_DNA.
DR   EMBL; BC011858; AAH11858.1; -; mRNA.
DR   EMBL; AF297986; AAK57478.1; -; mRNA.
DR   CCDS; CCDS3045.1; -. [Q969K4-1]
DR   CCDS; CCDS46901.1; -. [Q969K4-2]
DR   PIR; JC7326; JC7326.
DR   RefSeq; NP_115937.1; NM_032548.3. [Q969K4-2]
DR   RefSeq; NP_742024.1; NM_172027.2. [Q969K4-1]
DR   RefSeq; XP_011511515.1; XM_011513213.1.
DR   RefSeq; XP_016862776.1; XM_017007287.1.
DR   AlphaFoldDB; Q969K4; -.
DR   SMR; Q969K4; -.
DR   BioGRID; 123237; 17.
DR   IntAct; Q969K4; 14.
DR   MINT; Q969K4; -.
DR   STRING; 9606.ENSP00000232744; -.
DR   iPTMnet; Q969K4; -.
DR   PhosphoSitePlus; Q969K4; -.
DR   BioMuta; ABTB1; -.
DR   DMDM; 74751721; -.
DR   EPD; Q969K4; -.
DR   jPOST; Q969K4; -.
DR   MassIVE; Q969K4; -.
DR   PaxDb; 9606-ENSP00000232744; -.
DR   PeptideAtlas; Q969K4; -.
DR   ProteomicsDB; 75781; -. [Q969K4-1]
DR   ProteomicsDB; 75782; -. [Q969K4-2]
DR   ProteomicsDB; 75783; -. [Q969K4-3]
DR   ProteomicsDB; 75784; -. [Q969K4-4]
DR   Antibodypedia; 33153; 272 antibodies from 28 providers.
DR   DNASU; 80325; -.
DR   Ensembl; ENST00000232744.13; ENSP00000232744.8; ENSG00000114626.18. [Q969K4-1]
DR   Ensembl; ENST00000453791.6; ENSP00000412684.2; ENSG00000114626.18. [Q969K4-2]
DR   Ensembl; ENST00000468137.5; ENSP00000417366.1; ENSG00000114626.18. [Q969K4-2]
DR   GeneID; 80325; -.
DR   KEGG; hsa:80325; -.
DR   MANE-Select; ENST00000232744.13; ENSP00000232744.8; NM_172027.3; NP_742024.1.
DR   UCSC; uc003ejr.4; human. [Q969K4-1]
DR   AGR; HGNC:18275; -.
DR   CTD; 80325; -.
DR   DisGeNET; 80325; -.
DR   GeneCards; ABTB1; -.
DR   HGNC; HGNC:18275; ABTB1.
DR   HPA; ENSG00000114626; Low tissue specificity.
DR   MIM; 608308; gene.
DR   neXtProt; NX_Q969K4; -.
DR   OpenTargets; ENSG00000114626; -.
DR   PharmGKB; PA24418; -.
DR   VEuPathDB; HostDB:ENSG00000114626; -.
DR   eggNOG; KOG0511; Eukaryota.
DR   GeneTree; ENSGT00390000017131; -.
DR   HOGENOM; CLU_022885_0_0_1; -.
DR   InParanoid; Q969K4; -.
DR   OMA; EGARCIY; -.
DR   OrthoDB; 1082217at2759; -.
DR   PhylomeDB; Q969K4; -.
DR   TreeFam; TF329194; -.
DR   PathwayCommons; Q969K4; -.
DR   SignaLink; Q969K4; -.
DR   SIGNOR; Q969K4; -.
DR   BioGRID-ORCS; 80325; 11 hits in 1193 CRISPR screens.
DR   ChiTaRS; ABTB1; human.
DR   GeneWiki; ABTB1; -.
DR   GenomeRNAi; 80325; -.
DR   Pharos; Q969K4; Tbio.
DR   PRO; PR:Q969K4; -.
DR   Proteomes; UP000005640; Chromosome 3.
DR   RNAct; Q969K4; Protein.
DR   Bgee; ENSG00000114626; Expressed in right hemisphere of cerebellum and 169 other cell types or tissues.
DR   ExpressionAtlas; Q969K4; baseline and differential.
DR   GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR   GO; GO:0005829; C:cytosol; IDA:HPA.
DR   GO; GO:0005730; C:nucleolus; IDA:HPA.
DR   GO; GO:0005886; C:plasma membrane; IDA:HPA.
DR   GO; GO:0000151; C:ubiquitin ligase complex; IBA:GO_Central.
DR   GO; GO:0003746; F:translation elongation factor activity; IEA:UniProtKB-KW.
DR   CDD; cd18497; BACK_ABTB1_BPOZ; 1.
DR   CDD; cd18295; BTB1_POZ_ABTB1_BPOZ1; 1.
DR   CDD; cd18296; BTB2_POZ_ABTB1_BPOZ1; 1.
DR   Gene3D; 1.25.40.20; Ankyrin repeat-containing domain; 1.
DR   InterPro; IPR044515; ABTB1.
DR   InterPro; IPR002110; Ankyrin_rpt.
DR   InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR   InterPro; IPR000210; BTB/POZ_dom.
DR   InterPro; IPR011333; SKP1/BTB/POZ_sf.
DR   PANTHER; PTHR46231; ANKYRIN REPEAT AND BTB/POZ DOMAIN-CONTAINING PROTEIN 1; 1.
DR   PANTHER; PTHR46231:SF1; ANKYRIN REPEAT AND BTB_POZ DOMAIN-CONTAINING PROTEIN 1; 1.
DR   Pfam; PF12796; Ank_2; 1.
DR   Pfam; PF00651; BTB; 2.
DR   SMART; SM00248; ANK; 2.
DR   SMART; SM00225; BTB; 2.
DR   SUPFAM; SSF48403; Ankyrin repeat; 1.
DR   SUPFAM; SSF54695; POZ domain; 2.
DR   PROSITE; PS50297; ANK_REP_REGION; 1.
DR   PROSITE; PS50088; ANK_REPEAT; 1.
DR   PROSITE; PS50097; BTB; 2.
DR   Genevisible; Q969K4; HS.
PE   1: Evidence at protein level;
KW   Alternative splicing; ANK repeat; Coiled coil; Cytoplasm;
KW   Elongation factor; Protein biosynthesis; Reference proteome; Repeat.
FT   CHAIN           1..478
FT                   /note="Ankyrin repeat and BTB/POZ domain-containing protein
FT                   1"
FT                   /id="PRO_0000248267"
FT   REPEAT          1..31
FT                   /note="ANK 1"
FT                   /evidence="ECO:0000255"
FT   REPEAT          35..64
FT                   /note="ANK 2"
FT                   /evidence="ECO:0000255"
FT   DOMAIN          115..182
FT                   /note="BTB 1"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT   DOMAIN          272..346
FT                   /note="BTB 2"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT   COILED          451..477
FT                   /evidence="ECO:0000255"
FT   VAR_SEQ         1..142
FT                   /note="Missing (in isoform 1)"
FT                   /evidence="ECO:0000303|PubMed:11494141,
FT                   ECO:0000303|PubMed:15498874"
FT                   /id="VSP_052148"
FT   VAR_SEQ         1..40
FT                   /note="MDTSDLFASCRKGDVGRVRYLLEQRDVEVNVRDKWDSTPL -> MWAECGTC
FT                   WSSETWR (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:11494141"
FT                   /id="VSP_052149"
FT   VAR_SEQ         24..50
FT                   /note="Missing (in isoform 4)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_052150"
FT   VAR_SEQ         87..196
FT                   /note="DYKQVTASCRRRDYYDDFLQRLLEQGIHSDVVFVVHGKPFRVHRCVLGARSA
FT                   YFANMLDTKWKGKSVVVLRHPLINPVAFGALLQYLYTGRLDIGVEHVSDCERLAKQCQ
FT                   -> LCGHEE (in isoform 4)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_052151"
FT   VAR_SEQ         255..287
FT                   /note="Missing (in isoform 4)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_052152"
FT   VAR_SEQ         468..478
FT                   /note="EDLLVSIGLDC -> LETSMCMRLCAALLPAPCTLRASWGVRGAQWGFSSLH
FT                   EPGDPRGGSIWDEPPPPNAQASPQDPGGGHHSGKPGVGVGFGLSTFLLQIPPTHPSPKS
FT                   SPLALA (in isoform 4)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_052153"
SQ   SEQUENCE   478 AA;  53979 MW;  BF2B9959A5BF0BB5 CRC64;
     MDTSDLFASC RKGDVGRVRY LLEQRDVEVN VRDKWDSTPL YYACLCGHEE LVLYLLANGA
     RCEANTFDGE RCLYGALSDP IRRALRDYKQ VTASCRRRDY YDDFLQRLLE QGIHSDVVFV
     VHGKPFRVHR CVLGARSAYF ANMLDTKWKG KSVVVLRHPL INPVAFGALL QYLYTGRLDI
     GVEHVSDCER LAKQCQLWDL LSDLEAKCEK VSEFVASKPG TCVKVLTIEP PPADPRLRED
     MALLADCALP PELRGDLWEL PFPCPDGFNS CPDICFRVAG CSFLCHKAFF CGRSDYFRAL
     LDDHFRESEE PATSGGPPAV TLHGISPDVF THVLYYMYSD HTELSPEAAY DVLSVADMYL
     LPGLKRLCGR SLAQMLDEDT VVGVWRVAKL FRLARLEDQC TEYMAKVIEK LVEREDFVEA
     VKEEAAAVAA RQETDSIPLV DDIRFHVAST VQTYSAIEEA QQRLRALEDL LVSIGLDC
//