Seroatlas · Human Serome Atlas

DCLRE1C

Protein artemis

Also known as: A-SCID, ARTEMIS, DCR1C_HUMAN, FLJ11360, SCIDA, SNM1C

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

Protein identityUniProt · HPA

UniProt accession
Q96SD1
Gene
DCLRE1C
Ensembl
ENSG00000152457
Chromosome
10
Canonical length
692 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Golgi apparatus

OverviewNCBI Gene

This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The encoded protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins. The protein also functions in the regulation of the cell cycle in response to DNA damage. Mutations in this gene can cause Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Canonical amino-acid sequenceUniProt

692 residues, UniProt reviewed canonical sequence.

>Q96SD1|DCLRE1C
     1  MSSFEGQMAE YPTISIDRFD RENLRARAYF LSHCHKDHMK GLRAPTLKRR LECSLKVYLY
    61  CSPVTKELLL TSPKYRFWKK RIISIEIETP TQISLVDEAS GEKEEIVVTL LPAGHCPGSV
   121  MFLFQGNNGT VLYTGDFRLA QGEAARMELL HSGGRVKDIQ SVYLDTTFCD PRFYQIPSRE
   181  ECLSGVLELV RSWITRSPYH VVWLNCKAAY GYEYLFTNLS EELGVQVHVN KLDMFRNMPE
   241  ILHHLTTDRN TQIHACRHPK AEEYFQWSKL PCGITSRNRI PLHIISIKPS TMWFGERSRK
   301  TNVIVRTGES SYRACFSFHS SYSEIKDFLS YLCPVNAYPN VIPVGTTMDK VVEILKPLCR
   361  SSQSTEPKYK PLGKLKRART VHRDSEEEDD YLFDDPLPIP LRHKVPYPET FHPEVFSMTA
   421  VSEKQPEKLR QTPGCCRAEC MQSSRFTNFV DCEESNSESE EEVGIPASLQ GDLGSVLHLQ
   481  KADGDVPQWE VFFKRNDEIT DESLENFPSS TVAGGSQSPK LFSDSDGEST HISSQNSSQS
   541  THITEQGSQG WDSQSDTVLL SSQERNSGDI TSLDKADYRP TIKENIPASL MEQNVICPKD
   601  TYSDLKSRDK DVTIVPSTGE PTTLSSETHI PEEKSLLNLS TNADSQSSSD FEVPSTPEAE
   661  LPKREHLQYL YEKLATGESI AVKKRKCSLL DT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DCLRE1C 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
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.45
Highest tissue expression
6.5 nTPM

Expression across tissuesHPA

Tissue

  • lymph node: 6.5 nTPM
  • tonsil: 5.8 nTPM
  • thymus: 5.2 nTPM
  • bone marrow: 5 nTPM
  • spleen: 5 nTPM
  • esophagus: 4.3 nTPM

Single-cell type

  • urothelial cells: 154 nCPM
  • esophageal apical cells: 99 nCPM
  • respiratory secretory cells: 91 nCPM
  • epicardial cells: 86 nCPM
  • conjunctival goblet cells: 80 nCPM
  • salivary duct cells: 74 nCPM

Immune cell

  • myeloid DC: 9.6 nTPM
  • basophil: 8.3 nTPM
  • naive B-cell: 7.7 nTPM
  • memory B-cell: 7.6 nTPM
  • intermediate monocyte: 7.1 nTPM
  • eosinophil: 6.9 nTPM

Brain region

  • cerebellum: 8.3 nTPM
  • white matter: 5.5 nTPM
  • cerebral cortex: 5.4 nTPM
  • medulla oblongata: 5.1 nTPM
  • pons: 4.9 nTPM
  • thalamus: 4.7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DCLRE1C.

Disease | AllUniProt

Conditions DCLRE1C is implicated in, by any mechanism.

  • Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation (RSSCID) MIM:602450
  • Severe combined immunodeficiency Athabaskan type (SCIDA) MIM:602450
  • Omenn syndrome (OS) MIM:603554

Disease | GeneticClinVar

191 pathogenic / likely-pathogenic of 1,201 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.71
gnomAD pLI
0
gnomAD missense Z
-0.68
DepMap mean gene effect
-0.01
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DCLRE1C 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 DCLRE1C as an antibody target. Whether an autoantibody or antibody against DCLRE1C could matter depends on whether native DCLRE1C is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DCLRE1C 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 DCLRE1C as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/DCLRE1C. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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