M21D2_HUMAN
ID M21D2_HUMAN Reviewed; 491 AA.
AC Q8IYB1; Q86VD8;
DT 13-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT 28-NOV-2006, sequence version 3.
DT 03-AUG-2022, entry version 142.
DE RecName: Full=Nucleotidyltransferase MB21D2 {ECO:0000305};
DE EC=2.7.7.- {ECO:0000250|UniProtKB:Q8N884};
DE AltName: Full=Mab-21 domain-containing protein 2 {ECO:0000305};
DE Short=hMB21D2 {ECO:0000303|PubMed:34261127};
GN Name=MB21D2 {ECO:0000303|PubMed:34261127, ECO:0000312|HGNC:HGNC:30438};
GN Synonyms=C3orf59;
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].
RC TISSUE=Hippocampus, Liver, and Testis;
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 [3]
RP PROTEIN SEQUENCE OF 76-126; 231-242; 326-333; 424-430 AND 457-468, AND
RP IDENTIFICATION BY MASS SPECTROMETRY.
RC TISSUE=Hepatoma;
RA Bienvenut W.V., Dhillon A.S., Kolch W.;
RL Submitted (FEB-2008) to UniProtKB.
RN [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
RN [5]
RP X-RAY CRYSTALLOGRAPHY (2.4 ANGSTROMS) OF 29-491.
RX PubMed=34261127; DOI=10.1038/s41586-021-03743-5;
RA Slavik K.M., Morehouse B.R., Ragucci A.E., Zhou W., Ai X., Chen Y., Li L.,
RA Wei Z., Baehre H., Koenig M., Seifert R., Lee A.S.Y., Cai H., Imler J.L.,
RA Kranzusch P.J.;
RT "cGAS-like receptors sense RNA and control 3'2'-cGAMP signaling in
RT Drosophila.";
RL Nature 597:109-113(2021).
RN [6]
RP VARIANT GLU-311.
RX PubMed=32979859; DOI=10.1002/1878-0261.12806;
RA Gracilla D.E., Korla P.K., Lai M.T., Chiang A.J., Liou W.S., Sheu J.J.;
RT "Overexpression of wild type or a Q311E mutant MB21D2 promotes a pro-
RT oncogenic phenotype in HNSCC.";
RL Mol. Oncol. 14:3065-3082(2020).
CC -!- FUNCTION: Probable nucleotidyltransferase that catalyzes the formation
CC of cyclic dinucleotide second messenger in response to some unknown
CC stimulus. {ECO:0000305|PubMed:34261127}.
CC -!- INTERACTION:
CC Q8IYB1; Q12774: ARHGEF5; NbExp=3; IntAct=EBI-11323212, EBI-602199;
CC Q8IYB1; Q13895: BYSL; NbExp=3; IntAct=EBI-11323212, EBI-358049;
CC Q8IYB1; Q9HC52: CBX8; NbExp=3; IntAct=EBI-11323212, EBI-712912;
CC Q8IYB1; Q86X95-2: CIR1; NbExp=3; IntAct=EBI-11323212, EBI-12034850;
CC Q8IYB1; O60941-5: DTNB; NbExp=3; IntAct=EBI-11323212, EBI-11984733;
CC Q8IYB1; O60447: EVI5; NbExp=3; IntAct=EBI-11323212, EBI-852291;
CC Q8IYB1; Q6PF18: MORN3; NbExp=3; IntAct=EBI-11323212, EBI-9675802;
CC Q8IYB1; Q96QF0-7: RAB3IP; NbExp=3; IntAct=EBI-11323212, EBI-11984839;
CC Q8IYB1; Q04864-2: REL; NbExp=3; IntAct=EBI-11323212, EBI-10829018;
CC Q8IYB1; Q9UP95: SLC12A4; NbExp=3; IntAct=EBI-11323212, EBI-7244836;
CC Q8IYB1; O43609: SPRY1; NbExp=3; IntAct=EBI-11323212, EBI-3866665;
CC Q8IYB1; Q7Z783; NbExp=6; IntAct=EBI-11323212, EBI-9088990;
CC -!- SIMILARITY: Belongs to the mab-21 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH13123.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAH45582.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AC090025; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC117416; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC013123; AAH13123.1; ALT_INIT; mRNA.
DR EMBL; BC036194; AAH36194.3; -; mRNA.
DR EMBL; BC045582; AAH45582.1; ALT_INIT; mRNA.
DR CCDS; CCDS3302.2; -.
DR RefSeq; NP_848591.2; NM_178496.3.
DR PDB; 7LT1; X-ray; 2.40 A; A/B=29-491.
DR PDBsum; 7LT1; -.
DR AlphaFoldDB; Q8IYB1; -.
DR SMR; Q8IYB1; -.
DR BioGRID; 127413; 73.
DR IntAct; Q8IYB1; 30.
DR MINT; Q8IYB1; -.
DR STRING; 9606.ENSP00000376246; -.
DR iPTMnet; Q8IYB1; -.
DR PhosphoSitePlus; Q8IYB1; -.
DR BioMuta; MB21D2; -.
DR EPD; Q8IYB1; -.
DR jPOST; Q8IYB1; -.
DR MassIVE; Q8IYB1; -.
DR MaxQB; Q8IYB1; -.
DR PaxDb; Q8IYB1; -.
DR PeptideAtlas; Q8IYB1; -.
DR PRIDE; Q8IYB1; -.
DR ProteomicsDB; 71139; -.
DR Antibodypedia; 46851; 42 antibodies from 13 providers.
DR DNASU; 151963; -.
DR Ensembl; ENST00000392452.3; ENSP00000376246.2; ENSG00000180611.7.
DR GeneID; 151963; -.
DR KEGG; hsa:151963; -.
DR MANE-Select; ENST00000392452.3; ENSP00000376246.2; NM_178496.4; NP_848591.2.
DR UCSC; uc011bsp.3; human.
DR CTD; 151963; -.
DR DisGeNET; 151963; -.
DR GeneCards; MB21D2; -.
DR HGNC; HGNC:30438; MB21D2.
DR HPA; ENSG00000180611; Low tissue specificity.
DR neXtProt; NX_Q8IYB1; -.
DR OpenTargets; ENSG00000180611; -.
DR PharmGKB; PA143485335; -.
DR VEuPathDB; HostDB:ENSG00000180611; -.
DR eggNOG; KOG3963; Eukaryota.
DR GeneTree; ENSGT01050000244976; -.
DR HOGENOM; CLU_041150_1_0_1; -.
DR InParanoid; Q8IYB1; -.
DR OMA; VPACSFK; -.
DR OrthoDB; 418799at2759; -.
DR PhylomeDB; Q8IYB1; -.
DR TreeFam; TF329089; -.
DR PathwayCommons; Q8IYB1; -.
DR SignaLink; Q8IYB1; -.
DR BioGRID-ORCS; 151963; 13 hits in 1072 CRISPR screens.
DR ChiTaRS; MB21D2; human.
DR GenomeRNAi; 151963; -.
DR Pharos; Q8IYB1; Tdark.
DR PRO; PR:Q8IYB1; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q8IYB1; protein.
DR Bgee; ENSG00000180611; Expressed in secondary oocyte and 185 other tissues.
DR Genevisible; Q8IYB1; HS.
DR GO; GO:0045296; F:cadherin binding; HDA:BHF-UCL.
DR GO; GO:0016779; F:nucleotidyltransferase activity; IEA:UniProtKB-KW.
DR GO; GO:0044877; F:protein-containing complex binding; IDA:MGI.
DR InterPro; IPR024810; Mab-21_dom.
DR Pfam; PF03281; Mab-21; 1.
DR SMART; SM01265; Mab-21; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Direct protein sequencing; Nucleotidyltransferase;
KW Phosphoprotein; Reference proteome; Transferase.
FT CHAIN 1..491
FT /note="Nucleotidyltransferase MB21D2"
FT /id="PRO_0000239303"
FT REGION 431..452
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 431..446
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 435
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q8C525"
FT MOD_RES 436
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8C525"
FT MOD_RES 439
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8C525"
FT MOD_RES 442
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8C525"
FT VARIANT 311
FT /note="Q -> E (found in patients with squamous cell
FT carcinomas; oncogenic)"
FT /evidence="ECO:0000269|PubMed:32979859"
FT /id="VAR_085526"
FT HELIX 29..47
FT /evidence="ECO:0007829|PDB:7LT1"
FT HELIX 53..76
FT /evidence="ECO:0007829|PDB:7LT1"
FT STRAND 87..91
FT /evidence="ECO:0007829|PDB:7LT1"
FT HELIX 93..95
FT /evidence="ECO:0007829|PDB:7LT1"
FT STRAND 97..99
FT /evidence="ECO:0007829|PDB:7LT1"
FT TURN 111..113
FT /evidence="ECO:0007829|PDB:7LT1"
FT STRAND 114..127
FT /evidence="ECO:0007829|PDB:7LT1"
FT HELIX 129..131
FT /evidence="ECO:0007829|PDB:7LT1"
FT HELIX 132..135
FT /evidence="ECO:0007829|PDB:7LT1"
FT STRAND 145..149
FT /evidence="ECO:0007829|PDB:7LT1"
FT HELIX 155..160
FT /evidence="ECO:0007829|PDB:7LT1"
FT HELIX 162..164
FT /evidence="ECO:0007829|PDB:7LT1"
FT STRAND 165..168
FT /evidence="ECO:0007829|PDB:7LT1"
FT STRAND 171..173
FT /evidence="ECO:0007829|PDB:7LT1"
FT STRAND 176..179
FT /evidence="ECO:0007829|PDB:7LT1"
FT HELIX 181..201
FT /evidence="ECO:0007829|PDB:7LT1"
FT STRAND 209..216
FT /evidence="ECO:0007829|PDB:7LT1"
FT STRAND 219..226
FT /evidence="ECO:0007829|PDB:7LT1"
FT STRAND 229..243
FT /evidence="ECO:0007829|PDB:7LT1"
FT HELIX 246..252
FT /evidence="ECO:0007829|PDB:7LT1"
FT HELIX 264..267
FT /evidence="ECO:0007829|PDB:7LT1"
FT STRAND 268..275
FT /evidence="ECO:0007829|PDB:7LT1"
FT STRAND 279..281
FT /evidence="ECO:0007829|PDB:7LT1"
FT TURN 283..285
FT /evidence="ECO:0007829|PDB:7LT1"
FT STRAND 287..290
FT /evidence="ECO:0007829|PDB:7LT1"
FT HELIX 292..298
FT /evidence="ECO:0007829|PDB:7LT1"
FT TURN 299..301
FT /evidence="ECO:0007829|PDB:7LT1"
FT HELIX 304..320
FT /evidence="ECO:0007829|PDB:7LT1"
FT STRAND 323..325
FT /evidence="ECO:0007829|PDB:7LT1"
FT HELIX 329..341
FT /evidence="ECO:0007829|PDB:7LT1"
FT HELIX 345..349
FT /evidence="ECO:0007829|PDB:7LT1"
FT HELIX 351..353
FT /evidence="ECO:0007829|PDB:7LT1"
FT HELIX 354..370
FT /evidence="ECO:0007829|PDB:7LT1"
FT STRAND 377..379
FT /evidence="ECO:0007829|PDB:7LT1"
FT TURN 384..387
FT /evidence="ECO:0007829|PDB:7LT1"
FT HELIX 390..405
FT /evidence="ECO:0007829|PDB:7LT1"
FT HELIX 407..429
FT /evidence="ECO:0007829|PDB:7LT1"
SQ SEQUENCE 491 AA; 55800 MW; 7AF79038FE3D4534 CRC64;
MKMAAPTANK AASLGCNNKP AFPELDFRSG ARVEELNKLI QEFTKHDQRE YDDQRALEIH
TAKDFIFSML GMVQKLDQKL PVANEYLLLS GGVREGVVDL DLDELNVYAR GTDYDMDFTL
LVPALKLHDR NQPVTLDMRH SALCHSWLSL RLFDEGTISK WKDCCTIVDH INGATNYFFS
PTKVADWFYD SISIVLSEIQ KKPQRGMPKV EKVEKNGTII SIILGVGSSR MLYDIVPVVS
FKGWPAVAQS WLMENHFWDG KITEEEVISG FYLVPACSYK GKKDNEWRLS FARSEVQLKK
CISSSLMQAY QACKAIIIKL LSRPKAISPY HLRSMMLWAC DRLPANYLAQ EDYAAHFLLG
LIDDLQHCLV NKMCPNYFIP QCNMLEHLSE ETVMLHARKL SSVRSDPAEH LRTAIEHVKA
ANRLTLELQR RGSTTSIPSP QSDGGDPNQP DDRLAKKLQQ LVTENPGKSI SVFINPDDVT
RPHFRIDDKF F
