Seroatlas · Human Serome Atlas

DALRD3

DALR anticodon-binding domain-containing protein 3

Also known as: DALD3_HUMAN, FLJ10496

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q5D0E6
Gene: DALRD3
Ensembl: ENSG00000178149
Chromosome: 3
Canonical length: 543 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nuclear bodies,Cytosol

OverviewNCBI Gene

The exact function of this gene is not known. It encodes a protein with a DALR anticodon binding domain similar to that of class Ia aminoacyl tRNA synthetases. This gene is located in a cluster of genes (with a complex sense-anti-sense genome architecture) on chromosome 3, and contains two micro RNA (miRNA) precursors (mir-425 and mir-191) in one of its introns. Preferential expression of this gene (the miRNAs and other genes in the cluster) in testis suggests a role of this gene in spermatogenesis (PMID:19906709). [provided by RefSeq, Feb 2013]

Canonical amino-acid sequenceUniProt

543 residues, UniProt reviewed canonical sequence.

>Q5D0E6|DALRD3
     1  MATRRLGVGE TLGALNAALG PGGPVWIKET RTRHLRSRDF LAPHRALQAR FDDGQVPEHL
    61  LHALACLQGP GVAPVLRCAP TPAGLSLQLQ RSAVFERVLS AVAAYATPAS PASLGQRVLL
   121  HCPALRSSPC ALRLSQLRTV LVADHLARAL RAHGVCVRLV PAVRDPHMLT FLQQLRVDWP
   181  AASERASSHT LRSHALEELT SANDGRTLSP GILGRLCLKE LVEEQGRTAG YDPNLDNCLV
   241  TEDLLSVLAE LQEALWHWPE DSHPGLAGAS DTGTGGCLVV HVVSCEEEFQ QQKLDLLWQK
   301  LVDKAPLRQK HLICGPVKVA GAPGTLMTAP EYYEFRHTQV CKASALKHGG DLAQDPAWTE
   361  IFGVLSVATI KFEMLSTAPQ SQLFLALADS SISTKGTKSG TFVMYNCARL ATLFESYKCS
   421  MEQGLYPTFP PVSSLDFSLL HDEGEWLLLF NSILPFPDLL SRTAVLDCTA PGLHIAVRTE
   481  MICKFLVQLS MDFSSYYNRV HILGEPRPHL FGQMFVRLQL LRAVREVLHT GLAMLGLPPL
   541  SHI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DALRD3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Unknown
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.26
Highest tissue expression: 52 nTPM

Expression across tissuesHPA

Tissue

testis: 52 nTPM
pancreas: 39 nTPM
fallopian tube: 35 nTPM
kidney: 23 nTPM
choroid plexus: 21 nTPM
skin: 18 nTPM

Single-cell type

late spermatids: 452 nCPM
late primary spermatocytes: 243 nCPM
epicardial cells: 193 nCPM
enterocytes: 172 nCPM
fallopian tube ciliated cells: 167 nCPM
colonocytes: 149 nCPM

Immune cell

T-reg: 29 nTPM
MAIT T-cell: 25 nTPM
memory B-cell: 24 nTPM
NK-cell: 23 nTPM
memory CD4 T-cell: 23 nTPM
naive B-cell: 21 nTPM

Brain region

choroid plexus: 17 nTPM
midbrain: 13 nTPM
spinal cord: 12 nTPM
medulla oblongata: 11 nTPM
amygdala: 9.9 nTPM
thalamus: 9.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DALRD3.

Disease | AllUniProt

Conditions DALRD3 is implicated in, by any mechanism.

Developmental and epileptic encephalopathy 86 (DEE86) MIM:618910

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 114 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Developmental and epileptic encephalopathy, 86

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.14
gnomAD pLI: 0
gnomAD missense Z: 0.27
DepMap mean gene effect: -0.13
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Protein domainsUniProt · Pfam · InterPro

DALR anticodon binding
Aminoacyl-tRNA synthetase, class Ia, anticodon-binding
DALR anticodon binding domain
DALR anticodon-binding domain-containing protein 3

KeywordsUniProt

Epilepsy

InteractionsUniProt · HPA

Protein binding partners of DALRD3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DALRD3 as an antibody target. Whether an autoantibody or antibody against DALRD3 could matter depends on whether native DALRD3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DALRD3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label DALRD3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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