Q5D0E6 · DALD3_HUMAN
- ProteinDALR anticodon-binding domain-containing protein 3
- GeneDALRD3
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids543 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
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.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Molecular Function | arginine-tRNA ligase activity | |
Molecular Function | ATP binding | |
Molecular Function | tRNA binding | |
Biological Process | arginyl-tRNA aminoacylation | |
Biological Process | tRNA C3-cytosine methylation |
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameDALR anticodon-binding domain-containing protein 3
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ5D0E6
- Secondary accessions
Proteomes
Organism-specific databases
Disease & Variants
Involvement in disease
Developmental and epileptic encephalopathy 86 (DEE86)
- Note
- 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.
- See alsoMIM:618910
Natural variants in DEE86
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_084359 | 417-543 | missing | in DEE86; severe reduction of tRNA(Arg) N3-methylcytidine modification |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_038349 | 299 | in dbSNP:rs3087866 | |||
Sequence: Q → R | ||||||
Natural variant | VAR_084359 | 417-543 | in DEE86; severe reduction of tRNA(Arg) N3-methylcytidine modification | |||
Sequence: Missing |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 693 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000315848 | 1-543 | DALR anticodon-binding domain-containing protein 3 | |||
Sequence: MATRRLGVGETLGALNAALGPGGPVWIKETRTRHLRSRDFLAPHRALQARFDDGQVPEHLLHALACLQGPGVAPVLRCAPTPAGLSLQLQRSAVFERVLSAVAAYATPASPASLGQRVLLHCPALRSSPCALRLSQLRTVLVADHLARALRAHGVCVRLVPAVRDPHMLTFLQQLRVDWPAASERASSHTLRSHALEELTSANDGRTLSPGILGRLCLKELVEEQGRTAGYDPNLDNCLVTEDLLSVLAELQEALWHWPEDSHPGLAGASDTGTGGCLVVHVVSCEEEFQQQKLDLLWQKLVDKAPLRQKHLICGPVKVAGAPGTLMTAPEYYEFRHTQVCKASALKHGGDLAQDPAWTEIFGVLSVATIKFEMLSTAPQSQLFLALADSSISTKGTKSGTFVMYNCARLATLFESYKCSMEQGLYPTFPPVSSLDFSLLHDEGEWLLLFNSILPFPDLLSRTAVLDCTAPGLHIAVRTEMICKFLVQLSMDFSSYYNRVHILGEPRPHLFGQMFVRLQLLRAVREVLHTGLAMLGLPPLSHI |
Proteomic databases
PTM databases
Expression
Interaction
Subunit
Part of a complex containing tRNA(Arg), METTL2A or METTL2B (PubMed:32427860).
Interacts with tRNA(Arg)(CCU) and tRNA(Arg)(UCU) (PubMed:32427860).
Interacts with METTL2A and METTL2B (PubMed:32427860).
Interacts with tRNA(Arg)(CCU) and tRNA(Arg)(UCU) (PubMed:32427860).
Interacts with METTL2A and METTL2B (PubMed:32427860).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q5D0E6 | HNRNPK P61978 | 3 | EBI-2871865, EBI-304185 | |
BINARY | Q5D0E6-2 | ATXN1 P54253 | 6 | EBI-9090939, EBI-930964 | |
BINARY | Q5D0E6-2 | CYSRT1 A8MQ03 | 3 | EBI-9090939, EBI-3867333 | |
BINARY | Q5D0E6-2 | HSF2BP O75031 | 3 | EBI-9090939, EBI-7116203 | |
BINARY | Q5D0E6-2 | HTT P42858 | 9 | EBI-9090939, EBI-466029 | |
BINARY | Q5D0E6-2 | KHDRBS2 Q5VWX1 | 3 | EBI-9090939, EBI-742808 | |
BINARY | Q5D0E6-2 | KRTAP12-3 P60328 | 3 | EBI-9090939, EBI-11953334 | |
BINARY | Q5D0E6-2 | KRTAP6-3 Q3LI67 | 3 | EBI-9090939, EBI-22311199 | |
BINARY | Q5D0E6-2 | NOTCH2NLC P0DPK4 | 3 | EBI-9090939, EBI-22310682 | |
BINARY | Q5D0E6-2 | PM20D2 Q8IYS1 | 3 | EBI-9090939, EBI-11339910 | |
BINARY | Q5D0E6-2 | PSEN1 P49768-2 | 3 | EBI-9090939, EBI-11047108 | |
BINARY | Q5D0E6-2 | WFS1 O76024 | 3 | EBI-9090939, EBI-720609 |
Protein-protein interaction databases
Miscellaneous
Structure
Sequence & Isoforms
- Sequence statusComplete
This entry describes 4 isoforms produced by Alternative splicing.
Q5D0E6-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length543
- Mass (Da)59,363
- Last updated2010-05-18 v2
- Checksum78AFBA859D0E074B
Q5D0E6-2
- Name2
- Differences from canonical
- 444-543: GEWLLLFNSILPFPDLLSRTAVLDCTAPGLHIAVRTEMICKFLVQLSMDFSSYYNRVHILGEPRPHLFGQMFVRLQLLRAVREVLHTGLAMLGLPPLSHI → YPPLSGSAEPDSSAGLHSPGAPHCCTHRDDMQVPGTAQHGFQLLLQPGTHPGGASTTPLWSDVRPPAASESCA
Q5D0E6-3
- Name3
Q5D0E6-4
- Name4
- Differences from canonical
- 1-167: Missing
Computationally mapped potential isoform sequences
There are 4 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0A096LNZ3 | A0A096LNZ3_HUMAN | DALRD3 | 72 | ||
C9JJG6 | C9JJG6_HUMAN | DALRD3 | 386 | ||
C9JA38 | C9JA38_HUMAN | DALRD3 | 293 | ||
H7C0T8 | H7C0T8_HUMAN | DALRD3 | 184 |
Features
Showing features for alternative sequence, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_030741 | 1-167 | in isoform 4 | |||
Sequence: Missing | ||||||
Sequence conflict | 27 | in Ref. 1; BAA91647 | ||||
Sequence: I → T | ||||||
Alternative sequence | VSP_030743 | 133-138 | in isoform 3 | |||
Sequence: RLSQLR → TGCACA | ||||||
Alternative sequence | VSP_030744 | 139-543 | in isoform 3 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_030746 | 444-543 | in isoform 2 | |||
Sequence: GEWLLLFNSILPFPDLLSRTAVLDCTAPGLHIAVRTEMICKFLVQLSMDFSSYYNRVHILGEPRPHLFGQMFVRLQLLRAVREVLHTGLAMLGLPPLSHI → YPPLSGSAEPDSSAGLHSPGAPHCCTHRDDMQVPGTAQHGFQLLLQPGTHPGGASTTPLWSDVRPPAASESCA |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AK001358 EMBL· GenBank· DDBJ | BAA91647.1 EMBL· GenBank· DDBJ | mRNA | ||
AK093204 EMBL· GenBank· DDBJ | BAC04095.1 EMBL· GenBank· DDBJ | mRNA | ||
AK093294 EMBL· GenBank· DDBJ | BAC04123.1 EMBL· GenBank· DDBJ | mRNA | ||
AC137630 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC032440 EMBL· GenBank· DDBJ | AAH32440.2 EMBL· GenBank· DDBJ | mRNA | ||
BC047683 EMBL· GenBank· DDBJ | AAH47683.1 EMBL· GenBank· DDBJ | mRNA | ||
BC054493 EMBL· GenBank· DDBJ | AAH54493.1 EMBL· GenBank· DDBJ | mRNA |