ZBBX_HUMAN
ID ZBBX_HUMAN Reviewed; 800 AA.
AC A8MT70; A8MV69; B3KSC1; B5MDJ6; F2Z370; Q9H5T8;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 14-OCT-2008, sequence version 3.
DT 03-AUG-2022, entry version 108.
DE RecName: Full=Zinc finger B-box domain-containing protein 1;
GN Name=ZBBX;
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]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 273-800 (ISOFORM 2), AND VARIANTS
RP GLY-473 AND GLY-636.
RC TISSUE=Lung, and Testis;
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).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=A8MT70-1; Sequence=Displayed;
CC Name=3;
CC IsoId=A8MT70-3; Sequence=VSP_054851;
CC Name=2;
CC IsoId=A8MT70-2; Sequence=VSP_035573;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB15532.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AC107311; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC117463; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK026702; BAB15532.1; ALT_INIT; mRNA.
DR EMBL; AK093296; BAG52683.1; -; mRNA.
DR CCDS; CCDS3199.2; -. [A8MT70-1]
DR CCDS; CCDS56295.1; -. [A8MT70-3]
DR CCDS; CCDS56296.1; -. [A8MT70-2]
DR RefSeq; NP_078963.2; NM_024687.3. [A8MT70-1]
DR RefSeq; XP_016862678.1; XM_017007189.1. [A8MT70-1]
DR AlphaFoldDB; A8MT70; -.
DR SMR; A8MT70; -.
DR BioGRID; 122853; 29.
DR IntAct; A8MT70; 25.
DR STRING; 9606.ENSP00000390232; -.
DR GlyGen; A8MT70; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; A8MT70; -.
DR PhosphoSitePlus; A8MT70; -.
DR BioMuta; ZBBX; -.
DR jPOST; A8MT70; -.
DR MassIVE; A8MT70; -.
DR PaxDb; A8MT70; -.
DR PeptideAtlas; A8MT70; -.
DR PRIDE; A8MT70; -.
DR ProteomicsDB; 2001; -. [A8MT70-1]
DR ProteomicsDB; 2002; -. [A8MT70-2]
DR ProteomicsDB; 23903; -.
DR Antibodypedia; 50643; 89 antibodies from 14 providers.
DR DNASU; 79740; -.
DR Ensembl; ENST00000307529.9; ENSP00000305065.5; ENSG00000169064.13. [A8MT70-2]
DR Ensembl; ENST00000392764.5; ENSP00000376517.1; ENSG00000169064.13. [A8MT70-3]
DR Ensembl; ENST00000392766.6; ENSP00000376519.2; ENSG00000169064.13. [A8MT70-1]
DR Ensembl; ENST00000392767.6; ENSP00000376520.3; ENSG00000169064.13. [A8MT70-3]
DR Ensembl; ENST00000455345.7; ENSP00000390232.3; ENSG00000169064.13. [A8MT70-1]
DR Ensembl; ENST00000675490.1; ENSP00000502603.1; ENSG00000169064.13. [A8MT70-2]
DR GeneID; 79740; -.
DR KEGG; hsa:79740; -.
DR MANE-Select; ENST00000675490.1; ENSP00000502603.1; NM_001199201.2; NP_001186130.1. [A8MT70-2]
DR UCSC; uc003fep.4; human. [A8MT70-1]
DR CTD; 79740; -.
DR DisGeNET; 79740; -.
DR GeneCards; ZBBX; -.
DR HGNC; HGNC:26245; ZBBX.
DR HPA; ENSG00000169064; Group enriched (brain, choroid plexus, fallopian tube, testis).
DR neXtProt; NX_A8MT70; -.
DR OpenTargets; ENSG00000169064; -.
DR PharmGKB; PA162409400; -.
DR VEuPathDB; HostDB:ENSG00000169064; -.
DR eggNOG; ENOG502QZ7B; Eukaryota.
DR GeneTree; ENSGT00390000018298; -.
DR HOGENOM; CLU_376239_0_0_1; -.
DR InParanoid; A8MT70; -.
DR OMA; KMDWKSQ; -.
DR OrthoDB; 242112at2759; -.
DR PhylomeDB; A8MT70; -.
DR TreeFam; TF337517; -.
DR PathwayCommons; A8MT70; -.
DR SignaLink; A8MT70; -.
DR BioGRID-ORCS; 79740; 8 hits in 1058 CRISPR screens.
DR ChiTaRS; ZBBX; human.
DR GenomeRNAi; 79740; -.
DR Pharos; A8MT70; Tdark.
DR PRO; PR:A8MT70; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; A8MT70; protein.
DR Bgee; ENSG00000169064; Expressed in right uterine tube and 100 other tissues.
DR ExpressionAtlas; A8MT70; baseline and differential.
DR Genevisible; A8MT70; HS.
DR GO; GO:0031514; C:motile cilium; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0003341; P:cilium movement; IBA:GO_Central.
DR InterPro; IPR037688; ZBBX.
DR PANTHER; PTHR28634; PTHR28634; 2.
PE 2: Evidence at transcript level;
KW Alternative splicing; Coiled coil; Metal-binding; Reference proteome; Zinc;
KW Zinc-finger.
FT CHAIN 1..800
FT /note="Zinc finger B-box domain-containing protein 1"
FT /id="PRO_0000325813"
FT ZN_FING 129..175
FT /note="B box-type; atypical"
FT REGION 197..220
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 341..366
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 626..668
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 21..64
FT /evidence="ECO:0000255"
FT COILED 693..720
FT /evidence="ECO:0000255"
FT COMPBIAS 197..216
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..29
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_054851"
FT VAR_SEQ 626
FT /note="A -> AEDREWIPDHSLSEYADNAIVLGVLQGAQSPSSSRKQQKM (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_035573"
FT VARIANT 14
FT /note="P -> T (in dbSNP:rs10936535)"
FT /id="VAR_048400"
FT VARIANT 160
FT /note="K -> N (in dbSNP:rs4619784)"
FT /id="VAR_048401"
FT VARIANT 178
FT /note="K -> R (in dbSNP:rs11923054)"
FT /id="VAR_048402"
FT VARIANT 346
FT /note="H -> R (in dbSNP:rs34465133)"
FT /id="VAR_061040"
FT VARIANT 473
FT /note="A -> G (in dbSNP:rs13096767)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_048403"
FT VARIANT 511
FT /note="I -> T (in dbSNP:rs35190925)"
FT /id="VAR_048404"
FT VARIANT 555
FT /note="E -> K (in dbSNP:rs35864545)"
FT /id="VAR_048405"
FT VARIANT 636
FT /note="A -> G (in dbSNP:rs12638625)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_046955"
FT CONFLICT 273
FT /note="N -> K (in Ref. 2; BAB15532)"
FT /evidence="ECO:0000305"
FT CONFLICT 339
FT /note="P -> S (in Ref. 2; BAB15532)"
FT /evidence="ECO:0000305"
FT CONFLICT 576
FT /note="L -> S (in Ref. 2; BAG52683)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 800 AA; 91426 MW; D008D3C3D4DE00C3 CRC64;
MNRKDFVVLP WGKPGNSVKL KYRNAQELRM EKVQLEFENQ EMEKKLQEFR STRNKEKEDR
ESSEYYWKSG KVGKLVNQSY MMSQNKGNVV KFSAGKVKLK LLKEQIQEPV KPTVNYKMAN
SSECEKPKIN GKVCGQCENK AALLVCLECG EDYCSGCFAK VHQKGALKLH RTTLLQAKSQ
ILFNVLDVAH QFIKDVNPDE PKEENNSTKE TSKIQHKPKS VLLQRSSSEV EITTMKRAQR
TKPRKSLLCE GSFDEEASAQ SFQEVLSQWR TGNHDDNKKQ NLHAAVKDSL EECEVQTNLK
IWREPLNIEL KEDILSYMEK LWLKKHRRTP QEQLFKMLPD TFPHPHETTG DAQCSQNEND
EDSDGEETKV QHTALLLPVE TLNIERPEPS LKIVELDDTY EEEFEEAENI VPYKVKLADA
DSQRSCAFHD CQKNSFPYEN GIHQHHVFDK GKRDFLNLCL RNSSTYYKDN SKAETSNTDF
DNIVDPDVYS SDIEKIEEST SFERNLKEKN IGLESNQKSD DSCVSLESKD TLLGRDLEKA
PIEEKLSQDI KESLELSNLY KRPSFEESKT TKSSLLLQEI ACRSKPITKQ YQGLERFFIF
DTNERLNLLP SHRLECNNSS TRITLAGQKS QRPSTANFPL SNSVKESSSC LSSSHPRSRS
AAAQSSSRAA SEISEIEYID ITDQNELSLD DTTDQHTLDN LEKELQVLRS LADTSEKLYS
LTSEEFPDFS SQSLNISQIS TDFLKTSHVR GPCGVEELSC SGRDTKIQSL LSLSESSTDE
EEEDFLNKQH VITLPWSKST
