DALD3_HUMAN
ID DALD3_HUMAN Reviewed; 543 AA.
AC Q5D0E6; Q7Z5S7; Q86WY1; Q8N105; Q8NA89; Q9NVU8;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 139.
DE RecName: Full=DALR anticodon-binding domain-containing protein 3;
GN Name=DALRD3;
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 MRNA] (ISOFORMS 3 AND 4), AND VARIANT
RP ARG-299.
RC TISSUE=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).
RN [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP ARG-299.
RC TISSUE=Blood, and Brain;
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 [4]
RP FUNCTION, INTERACTION WITH TRNA(ARG); METTL2A AND METTL2B, INVOLVEMENT IN
RP DEE86, VARIANT DEE86 417-TYR--ILE-543 DEL, AND CHARACTERIZATION OF VARIANT
RP DEE86 417-TYR--ILE-543 DEL.
RX PubMed=32427860; DOI=10.1038/s41467-020-16321-6;
RA Lentini J.M., Alsaif H.S., Faqeih E., Alkuraya F.S., Fu D.;
RT "DALRD3 encodes a protein mutated in epileptic encephalopathy that targets
RT arginine tRNAs for 3-methylcytosine modification.";
RL Nat. Commun. 11:2510-2510(2020).
CC -!- FUNCTION: Involved in tRNA methylation. Facilitates the recognition and
CC targeting of tRNA(Arg)(CCU) and tRNA(Arg)(UCU) substrates for N(3)-
CC methylcytidine modification by METTL2A and METTL2B.
CC {ECO:0000269|PubMed:32427860}.
CC -!- SUBUNIT: Part of a complex containing tRNA(Arg), METTL2A or METTL2B
CC (PubMed:32427860). Interacts with tRNA(Arg)(CCU) and tRNA(Arg)(UCU)
CC (PubMed:32427860). Interacts with METTL2A and METTL2B
CC (PubMed:32427860). {ECO:0000269|PubMed:32427860}.
CC -!- INTERACTION:
CC Q5D0E6; P61978: HNRNPK; NbExp=3; IntAct=EBI-2871865, EBI-304185;
CC Q5D0E6-2; P54253: ATXN1; NbExp=6; IntAct=EBI-9090939, EBI-930964;
CC Q5D0E6-2; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-9090939, EBI-3867333;
CC Q5D0E6-2; O75031: HSF2BP; NbExp=3; IntAct=EBI-9090939, EBI-7116203;
CC Q5D0E6-2; P42858: HTT; NbExp=9; IntAct=EBI-9090939, EBI-466029;
CC Q5D0E6-2; Q5VWX1: KHDRBS2; NbExp=3; IntAct=EBI-9090939, EBI-742808;
CC Q5D0E6-2; P60328: KRTAP12-3; NbExp=3; IntAct=EBI-9090939, EBI-11953334;
CC Q5D0E6-2; P0DPK4: NOTCH2NLC; NbExp=3; IntAct=EBI-9090939, EBI-22310682;
CC Q5D0E6-2; Q8IYS1: PM20D2; NbExp=3; IntAct=EBI-9090939, EBI-11339910;
CC Q5D0E6-2; P49768-2: PSEN1; NbExp=3; IntAct=EBI-9090939, EBI-11047108;
CC Q5D0E6-2; O76024: WFS1; NbExp=3; IntAct=EBI-9090939, EBI-720609;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q5D0E6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5D0E6-2; Sequence=VSP_030746;
CC Name=3;
CC IsoId=Q5D0E6-3; Sequence=VSP_030743, VSP_030744;
CC Name=4;
CC IsoId=Q5D0E6-4; Sequence=VSP_030741;
CC -!- DISEASE: Developmental and epileptic encephalopathy 86 (DEE86)
CC [MIM:618910]: A form of epileptic encephalopathy, a heterogeneous group
CC of severe early-onset epilepsies characterized by refractory seizures,
CC neurodevelopmental impairment, and poor prognosis. Development is
CC normal prior to seizure onset, after which cognitive and motor delays
CC become apparent. DEE86 inheritance is autosomal recessive.
CC {ECO:0000269|PubMed:32427860}. Note=The disease may be caused by
CC variants affecting the gene represented in this entry.
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DR EMBL; AK001358; BAA91647.1; -; mRNA.
DR EMBL; AK093204; BAC04095.1; -; mRNA.
DR EMBL; AK093294; BAC04123.1; -; mRNA.
DR EMBL; AC137630; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC032440; AAH32440.2; -; mRNA.
DR EMBL; BC047683; AAH47683.1; -; mRNA.
DR EMBL; BC054493; AAH54493.1; -; mRNA.
DR CCDS; CCDS2783.1; -. [Q5D0E6-4]
DR CCDS; CCDS33754.1; -. [Q5D0E6-1]
DR CCDS; CCDS63632.1; -. [Q5D0E6-2]
DR RefSeq; NP_001009996.1; NM_001009996.2. [Q5D0E6-1]
DR RefSeq; NP_001263334.1; NM_001276405.1. [Q5D0E6-2]
DR RefSeq; NP_060584.3; NM_018114.5. [Q5D0E6-4]
DR AlphaFoldDB; Q5D0E6; -.
DR SMR; Q5D0E6; -.
DR BioGRID; 120455; 109.
DR IntAct; Q5D0E6; 17.
DR MINT; Q5D0E6; -.
DR STRING; 9606.ENSP00000344989; -.
DR iPTMnet; Q5D0E6; -.
DR PhosphoSitePlus; Q5D0E6; -.
DR BioMuta; DALRD3; -.
DR DMDM; 296434472; -.
DR EPD; Q5D0E6; -.
DR jPOST; Q5D0E6; -.
DR MassIVE; Q5D0E6; -.
DR MaxQB; Q5D0E6; -.
DR PaxDb; Q5D0E6; -.
DR PeptideAtlas; Q5D0E6; -.
DR PRIDE; Q5D0E6; -.
DR ProteomicsDB; 62736; -. [Q5D0E6-1]
DR ProteomicsDB; 62737; -. [Q5D0E6-2]
DR ProteomicsDB; 62738; -. [Q5D0E6-3]
DR ProteomicsDB; 62739; -. [Q5D0E6-4]
DR Antibodypedia; 30345; 110 antibodies from 22 providers.
DR DNASU; 55152; -.
DR Ensembl; ENST00000313778.9; ENSP00000323265.5; ENSG00000178149.17. [Q5D0E6-4]
DR Ensembl; ENST00000341949.9; ENSP00000344989.4; ENSG00000178149.17. [Q5D0E6-1]
DR Ensembl; ENST00000441576.6; ENSP00000410623.2; ENSG00000178149.17. [Q5D0E6-2]
DR GeneID; 55152; -.
DR KEGG; hsa:55152; -.
DR MANE-Select; ENST00000341949.9; ENSP00000344989.4; NM_001009996.3; NP_001009996.1.
DR UCSC; uc003cvk.4; human. [Q5D0E6-1]
DR CTD; 55152; -.
DR DisGeNET; 55152; -.
DR GeneCards; DALRD3; -.
DR HGNC; HGNC:25536; DALRD3.
DR HPA; ENSG00000178149; Low tissue specificity.
DR MalaCards; DALRD3; -.
DR MIM; 618904; gene.
DR MIM; 618910; phenotype.
DR neXtProt; NX_Q5D0E6; -.
DR OpenTargets; ENSG00000178149; -.
DR Orphanet; 442835; Non-specific early-onset epileptic encephalopathy.
DR PharmGKB; PA134921814; -.
DR VEuPathDB; HostDB:ENSG00000178149; -.
DR eggNOG; KOG1195; Eukaryota.
DR GeneTree; ENSGT00390000014621; -.
DR HOGENOM; CLU_041286_1_1_1; -.
DR InParanoid; Q5D0E6; -.
DR OMA; RDPHMPT; -.
DR OrthoDB; 1367114at2759; -.
DR PhylomeDB; Q5D0E6; -.
DR TreeFam; TF325601; -.
DR PathwayCommons; Q5D0E6; -.
DR SignaLink; Q5D0E6; -.
DR BioGRID-ORCS; 55152; 18 hits in 1076 CRISPR screens.
DR ChiTaRS; DALRD3; human.
DR GenomeRNAi; 55152; -.
DR Pharos; Q5D0E6; Tdark.
DR PRO; PR:Q5D0E6; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q5D0E6; protein.
DR Bgee; ENSG00000178149; Expressed in left testis and 177 other tissues.
DR ExpressionAtlas; Q5D0E6; baseline and differential.
DR Genevisible; Q5D0E6; HS.
DR GO; GO:0004814; F:arginine-tRNA ligase activity; IEA:InterPro.
DR GO; GO:0005524; F:ATP binding; IEA:InterPro.
DR GO; GO:0000049; F:tRNA binding; IDA:UniProtKB.
DR GO; GO:0006420; P:arginyl-tRNA aminoacylation; IEA:InterPro.
DR GO; GO:0106217; P:tRNA C3-cytosine methylation; IMP:UniProtKB.
DR InterPro; IPR008909; DALR_anticod-bd.
DR InterPro; IPR037380; DALRD3.
DR InterPro; IPR009080; tRNAsynth_Ia_anticodon-bd.
DR PANTHER; PTHR16043; PTHR16043; 1.
DR Pfam; PF05746; DALR_1; 1.
DR SMART; SM00836; DALR_1; 1.
DR SUPFAM; SSF47323; SSF47323; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Disease variant; Epilepsy; Reference proteome.
FT CHAIN 1..543
FT /note="DALR anticodon-binding domain-containing protein 3"
FT /id="PRO_0000315848"
FT VAR_SEQ 1..167
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_030741"
FT VAR_SEQ 133..138
FT /note="RLSQLR -> TGCACA (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_030743"
FT VAR_SEQ 139..543
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_030744"
FT VAR_SEQ 444..543
FT /note="GEWLLLFNSILPFPDLLSRTAVLDCTAPGLHIAVRTEMICKFLVQLSMDFSS
FT YYNRVHILGEPRPHLFGQMFVRLQLLRAVREVLHTGLAMLGLPPLSHI -> YPPLSGS
FT AEPDSSAGLHSPGAPHCCTHRDDMQVPGTAQHGFQLLLQPGTHPGGASTTPLWSDVRPP
FT AASESCA (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_030746"
FT VARIANT 299
FT /note="Q -> R (in dbSNP:rs3087866)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_038349"
FT VARIANT 417..543
FT /note="Missing (in DEE86; severe reduction of tRNA(Arg)
FT N(3)-methylcytidine modification)"
FT /evidence="ECO:0000269|PubMed:32427860"
FT /id="VAR_084359"
FT CONFLICT 27
FT /note="I -> T (in Ref. 1; BAA91647)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 543 AA; 59363 MW; 78AFBA859D0E074B CRC64;
MATRRLGVGE TLGALNAALG PGGPVWIKET RTRHLRSRDF LAPHRALQAR FDDGQVPEHL
LHALACLQGP GVAPVLRCAP TPAGLSLQLQ RSAVFERVLS AVAAYATPAS PASLGQRVLL
HCPALRSSPC ALRLSQLRTV LVADHLARAL RAHGVCVRLV PAVRDPHMLT FLQQLRVDWP
AASERASSHT LRSHALEELT SANDGRTLSP GILGRLCLKE LVEEQGRTAG YDPNLDNCLV
TEDLLSVLAE LQEALWHWPE DSHPGLAGAS DTGTGGCLVV HVVSCEEEFQ QQKLDLLWQK
LVDKAPLRQK HLICGPVKVA GAPGTLMTAP EYYEFRHTQV CKASALKHGG DLAQDPAWTE
IFGVLSVATI KFEMLSTAPQ SQLFLALADS SISTKGTKSG TFVMYNCARL ATLFESYKCS
MEQGLYPTFP PVSSLDFSLL HDEGEWLLLF NSILPFPDLL SRTAVLDCTA PGLHIAVRTE
MICKFLVQLS MDFSSYYNRV HILGEPRPHL FGQMFVRLQL LRAVREVLHT GLAMLGLPPL
SHI
