ABTB1_HUMAN
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 03-AUG-2022, entry version 158.
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. [Q969K4-2]
DR RefSeq; XP_016862776.1; XM_017007287.1. [Q969K4-2]
DR AlphaFoldDB; Q969K4; -.
DR SMR; Q969K4; -.
DR BioGRID; 123237; 16.
DR IntAct; Q969K4; 12.
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; Q969K4; -.
DR PeptideAtlas; Q969K4; -.
DR PRIDE; Q969K4; -.
DR ProteomicsDB; 75781; -. [Q969K4-1]
DR ProteomicsDB; 75782; -. [Q969K4-2]
DR ProteomicsDB; 75783; -. [Q969K4-3]
DR ProteomicsDB; 75784; -. [Q969K4-4]
DR Antibodypedia; 33153; 249 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 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; LQYDYSK; -.
DR OrthoDB; 871743at2759; -.
DR PhylomeDB; Q969K4; -.
DR TreeFam; TF329194; -.
DR PathwayCommons; Q969K4; -.
DR SignaLink; Q969K4; -.
DR SIGNOR; Q969K4; -.
DR BioGRID-ORCS; 80325; 10 hits in 1115 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 167 other tissues.
DR ExpressionAtlas; Q969K4; baseline and differential.
DR Genevisible; Q969K4; HS.
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 Gene3D; 1.25.40.20; -; 1.
DR Gene3D; 3.30.710.10; -; 2.
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; PTHR46231; 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; SSF48403; 1.
DR SUPFAM; SSF54695; SSF54695; 2.
DR PROSITE; PS50297; ANK_REP_REGION; 1.
DR PROSITE; PS50088; ANK_REPEAT; 1.
DR PROSITE; PS50097; BTB; 2.
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
