UniProtKB - Q5D0E6 (DALD3_HUMAN)
Protein
DALR anticodon-binding domain-containing protein 3
Gene
DALRD3
Organism
Homo sapiens (Human)
Status
Functioni
Involved in tRNA methylation. Facilitates the recognition and targeting of tRNA(Arg)(CCU) and tRNA(Arg)(UCU) substrates for N3-methylcytidine modification by METTL2A and METTL2B.1 Publication
GO - Molecular functioni
- arginine-tRNA ligase activity Source: InterPro
- ATP binding Source: InterPro
- tRNA binding Source: UniProtKB
GO - Biological processi
- arginyl-tRNA aminoacylation Source: InterPro
- tRNA C3-cytosine methylation Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q5D0E6 |
Names & Taxonomyi
Protein namesi | Recommended name: DALR anticodon-binding domain-containing protein 3 |
Gene namesi | Name:DALRD3 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:25536, DALRD3 |
MIMi | 618904, gene |
neXtProti | NX_Q5D0E6 |
VEuPathDBi | HostDB:ENSG00000178149.16 |
Pathology & Biotechi
Involvement in diseasei
Developmental and epileptic encephalopathy 86 (DEE86)1 Publication
The disease may be caused by variants affecting the gene represented in this entry.
Disease descriptionA form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE86 inheritance is autosomal recessive.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_084359 | 417 – 543 | Missing in DEE86; severe reduction of tRNA(Arg) N(3)-methylcytidine modification. 1 PublicationAdd BLAST | 127 |
Keywords - Diseasei
Disease variant, EpilepsyOrganism-specific databases
DisGeNETi | 55152 |
MalaCardsi | DALRD3 |
MIMi | 618910, phenotype |
OpenTargetsi | ENSG00000178149 |
Orphaneti | 442835, Undetermined early-onset epileptic encephalopathy |
PharmGKBi | PA134921814 |
Miscellaneous databases
Pharosi | Q5D0E6, Tdark |
Genetic variation databases
BioMutai | DALRD3 |
DMDMi | 296434472 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000315848 | 1 – 543 | DALR anticodon-binding domain-containing protein 3Add BLAST | 543 |
Proteomic databases
jPOSTi | Q5D0E6 |
MassIVEi | Q5D0E6 |
MaxQBi | Q5D0E6 |
PaxDbi | Q5D0E6 |
PeptideAtlasi | Q5D0E6 |
PRIDEi | Q5D0E6 |
ProteomicsDBi | 62736 [Q5D0E6-1] 62737 [Q5D0E6-2] 62738 [Q5D0E6-3] 62739 [Q5D0E6-4] |
PTM databases
iPTMneti | Q5D0E6 |
PhosphoSitePlusi | Q5D0E6 |
Expressioni
Gene expression databases
Bgeei | ENSG00000178149, Expressed in testis and 219 other tissues |
ExpressionAtlasi | Q5D0E6, baseline and differential |
Genevisiblei | Q5D0E6, HS |
Organism-specific databases
HPAi | ENSG00000178149, Low tissue specificity |
Interactioni
Subunit structurei
Binary interactionsi
Hide detailsQ5D0E6
With | #Exp. | IntAct |
---|---|---|
HNRNPK [P61978] | 3 | EBI-2871865,EBI-304185 |
Isoform 2 [Q5D0E6-2]
Protein-protein interaction databases
BioGRIDi | 120455, 20 interactors |
IntActi | Q5D0E6, 16 interactors |
MINTi | Q5D0E6 |
STRINGi | 9606.ENSP00000344989 |
Miscellaneous databases
RNActi | Q5D0E6, protein |
Family & Domainsi
Phylogenomic databases
eggNOGi | KOG1195, Eukaryota |
GeneTreei | ENSGT00390000014621 |
HOGENOMi | CLU_041286_1_1_1 |
InParanoidi | Q5D0E6 |
OMAi | RDPHMLT |
OrthoDBi | 1367114at2759 |
PhylomeDBi | Q5D0E6 |
TreeFami | TF325601 |
Family and domain databases
InterProi | View protein in InterPro IPR008909, DALR_anticod-bd IPR037380, DALRD3 IPR009080, tRNAsynth_Ia_anticodon-bd |
PANTHERi | PTHR16043, PTHR16043, 1 hit |
Pfami | View protein in Pfam PF05746, DALR_1, 1 hit |
SMARTi | View protein in SMART SM00836, DALR_1, 1 hit |
SUPFAMi | SSF47323, SSF47323, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q5D0E6-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MATRRLGVGE TLGALNAALG PGGPVWIKET RTRHLRSRDF LAPHRALQAR
60 70 80 90 100
FDDGQVPEHL LHALACLQGP GVAPVLRCAP TPAGLSLQLQ RSAVFERVLS
110 120 130 140 150
AVAAYATPAS PASLGQRVLL HCPALRSSPC ALRLSQLRTV LVADHLARAL
160 170 180 190 200
RAHGVCVRLV PAVRDPHMLT FLQQLRVDWP AASERASSHT LRSHALEELT
210 220 230 240 250
SANDGRTLSP GILGRLCLKE LVEEQGRTAG YDPNLDNCLV TEDLLSVLAE
260 270 280 290 300
LQEALWHWPE DSHPGLAGAS DTGTGGCLVV HVVSCEEEFQ QQKLDLLWQK
310 320 330 340 350
LVDKAPLRQK HLICGPVKVA GAPGTLMTAP EYYEFRHTQV CKASALKHGG
360 370 380 390 400
DLAQDPAWTE IFGVLSVATI KFEMLSTAPQ SQLFLALADS SISTKGTKSG
410 420 430 440 450
TFVMYNCARL ATLFESYKCS MEQGLYPTFP PVSSLDFSLL HDEGEWLLLF
460 470 480 490 500
NSILPFPDLL SRTAVLDCTA PGLHIAVRTE MICKFLVQLS MDFSSYYNRV
510 520 530 540
HILGEPRPHL FGQMFVRLQL LRAVREVLHT GLAMLGLPPL SHI
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH7C0T8 | H7C0T8_HUMAN | DALR anticodon-binding domain-conta... | DALRD3 | 184 | Annotation score: | ||
C9JA38 | C9JA38_HUMAN | DALR anticodon-binding domain-conta... | DALRD3 | 293 | Annotation score: | ||
C9JJG6 | C9JJG6_HUMAN | DALR anticodon-binding domain-conta... | DALRD3 | 386 | Annotation score: | ||
A0A096LNZ3 | A0A096LNZ3_HUMAN | DALR anticodon-binding domain-conta... | DALRD3 | 72 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 27 | I → T in BAA91647 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_038349 | 299 | Q → R2 PublicationsCorresponds to variant dbSNP:rs3087866Ensembl. | 1 | |
Natural variantiVAR_084359 | 417 – 543 | Missing in DEE86; severe reduction of tRNA(Arg) N(3)-methylcytidine modification. 1 PublicationAdd BLAST | 127 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_030741 | 1 – 167 | Missing in isoform 4. 1 PublicationAdd BLAST | 167 | |
Alternative sequenceiVSP_030743 | 133 – 138 | RLSQLR → TGCACA in isoform 3. 1 Publication | 6 | |
Alternative sequenceiVSP_030744 | 139 – 543 | Missing in isoform 3. 1 PublicationAdd BLAST | 405 | |
Alternative sequenceiVSP_030746 | 444 – 543 | GEWLL…PLSHI → YPPLSGSAEPDSSAGLHSPG APHCCTHRDDMQVPGTAQHG FQLLLQPGTHPGGASTTPLW SDVRPPAASESCA in isoform 2. 1 PublicationAdd BLAST | 100 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK001358 mRNA Translation: BAA91647.1 AK093204 mRNA Translation: BAC04095.1 AK093294 mRNA Translation: BAC04123.1 AC137630 Genomic DNA No translation available. BC032440 mRNA Translation: AAH32440.2 BC047683 mRNA Translation: AAH47683.1 BC054493 mRNA Translation: AAH54493.1 |
CCDSi | CCDS2783.1 [Q5D0E6-4] CCDS33754.1 [Q5D0E6-1] CCDS63632.1 [Q5D0E6-2] |
RefSeqi | NP_001009996.1, NM_001009996.2 [Q5D0E6-1] NP_001263334.1, NM_001276405.1 [Q5D0E6-2] NP_060584.3, NM_018114.5 [Q5D0E6-4] |
Genome annotation databases
Ensembli | ENST00000313778; ENSP00000323265; ENSG00000178149 [Q5D0E6-4] ENST00000341949; ENSP00000344989; ENSG00000178149 [Q5D0E6-1] ENST00000441576; ENSP00000410623; ENSG00000178149 [Q5D0E6-2] |
GeneIDi | 55152 |
KEGGi | hsa:55152 |
UCSCi | uc003cvk.4, human [Q5D0E6-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK001358 mRNA Translation: BAA91647.1 AK093204 mRNA Translation: BAC04095.1 AK093294 mRNA Translation: BAC04123.1 AC137630 Genomic DNA No translation available. BC032440 mRNA Translation: AAH32440.2 BC047683 mRNA Translation: AAH47683.1 BC054493 mRNA Translation: AAH54493.1 |
CCDSi | CCDS2783.1 [Q5D0E6-4] CCDS33754.1 [Q5D0E6-1] CCDS63632.1 [Q5D0E6-2] |
RefSeqi | NP_001009996.1, NM_001009996.2 [Q5D0E6-1] NP_001263334.1, NM_001276405.1 [Q5D0E6-2] NP_060584.3, NM_018114.5 [Q5D0E6-4] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 120455, 20 interactors |
IntActi | Q5D0E6, 16 interactors |
MINTi | Q5D0E6 |
STRINGi | 9606.ENSP00000344989 |
PTM databases
iPTMneti | Q5D0E6 |
PhosphoSitePlusi | Q5D0E6 |
Genetic variation databases
BioMutai | DALRD3 |
DMDMi | 296434472 |
Proteomic databases
jPOSTi | Q5D0E6 |
MassIVEi | Q5D0E6 |
MaxQBi | Q5D0E6 |
PaxDbi | Q5D0E6 |
PeptideAtlasi | Q5D0E6 |
PRIDEi | Q5D0E6 |
ProteomicsDBi | 62736 [Q5D0E6-1] 62737 [Q5D0E6-2] 62738 [Q5D0E6-3] 62739 [Q5D0E6-4] |
Protocols and materials databases
Antibodypediai | 30345, 104 antibodies |
DNASUi | 55152 |
Genome annotation databases
Ensembli | ENST00000313778; ENSP00000323265; ENSG00000178149 [Q5D0E6-4] ENST00000341949; ENSP00000344989; ENSG00000178149 [Q5D0E6-1] ENST00000441576; ENSP00000410623; ENSG00000178149 [Q5D0E6-2] |
GeneIDi | 55152 |
KEGGi | hsa:55152 |
UCSCi | uc003cvk.4, human [Q5D0E6-1] |
Organism-specific databases
CTDi | 55152 |
DisGeNETi | 55152 |
GeneCardsi | DALRD3 |
HGNCi | HGNC:25536, DALRD3 |
HPAi | ENSG00000178149, Low tissue specificity |
MalaCardsi | DALRD3 |
MIMi | 618904, gene 618910, phenotype |
neXtProti | NX_Q5D0E6 |
OpenTargetsi | ENSG00000178149 |
Orphaneti | 442835, Undetermined early-onset epileptic encephalopathy |
PharmGKBi | PA134921814 |
VEuPathDBi | HostDB:ENSG00000178149.16 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1195, Eukaryota |
GeneTreei | ENSGT00390000014621 |
HOGENOMi | CLU_041286_1_1_1 |
InParanoidi | Q5D0E6 |
OMAi | RDPHMLT |
OrthoDBi | 1367114at2759 |
PhylomeDBi | Q5D0E6 |
TreeFami | TF325601 |
Enzyme and pathway databases
PathwayCommonsi | Q5D0E6 |
Miscellaneous databases
BioGRID-ORCSi | 55152, 13 hits in 993 CRISPR screens |
ChiTaRSi | DALRD3, human |
GenomeRNAii | 55152 |
Pharosi | Q5D0E6, Tdark |
PROi | PR:Q5D0E6 |
RNActi | Q5D0E6, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000178149, Expressed in testis and 219 other tissues |
ExpressionAtlasi | Q5D0E6, baseline and differential |
Genevisiblei | Q5D0E6, HS |
Family and domain databases
InterProi | View protein in InterPro IPR008909, DALR_anticod-bd IPR037380, DALRD3 IPR009080, tRNAsynth_Ia_anticodon-bd |
PANTHERi | PTHR16043, PTHR16043, 1 hit |
Pfami | View protein in Pfam PF05746, DALR_1, 1 hit |
SMARTi | View protein in SMART SM00836, DALR_1, 1 hit |
SUPFAMi | SSF47323, SSF47323, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | DALD3_HUMAN | |
Accessioni | Q5D0E6Primary (citable) accession number: Q5D0E6 Secondary accession number(s): Q7Z5S7 Q9NVU8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 15, 2008 |
Last sequence update: | May 18, 2010 | |
Last modified: | April 7, 2021 | |
This is version 134 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot