Seroatlas · Human Serome Atlas

DNASE1L1

Deoxyribonuclease-1-like 1

Also known as: DNAS1L1, DNASEX, DNL1L, DNSL1_HUMAN, XIB

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

Protein identityUniProt · HPA

UniProt accession: P49184
Gene: DNASE1L1
Ensembl: ENSG00000013563
Chromosome: X
Canonical length: 302 aa
Protein class: Predicted intracellular proteins
Secretome location: Intracellular and membrane

OverviewNCBI Gene

This gene encodes a deoxyribonuclease protein that shows high sequence similarity to DNase I. The encoded protein is localized to the endoplasmic reticulum and modified by N-linked glycosylation. Alternate transcriptional splice variants encoding the same protein have been observed. [provided by RefSeq, Jan 2015]

Canonical amino-acid sequenceUniProt

302 residues, UniProt reviewed canonical sequence.

>P49184|DNASE1L1
     1  MHYPTALLFL ILANGAQAFR ICAFNAQRLT LAKVAREQVM DTLVRILARC DIMVLQEVVD
    61  SSGSAIPLLL RELNRFDGSG PYSTLSSPQL GRSTYMETYV YFYRSHKTQV LSSYVYNDED
   121  DVFAREPFVA QFSLPSNVLP SLVLVPLHTT PKAVEKELNA LYDVFLEVSQ HWQSKDVILL
   181  GDFNADCASL TKKRLDKLEL RTEPGFHWVI ADGEDTTVRA STHCTYDRVV LHGERCRSLL
   241  HTAAAFDFPT SFQLTEEEAL NISDHYPVEV ELKLSQAHSV QPLSLTVLLL LSLLSPQLCP
   301  AA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DNASE1L1 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): 0.28
Highest tissue expression: 136 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 136 nTPM
tongue: 88 nTPM
heart muscle: 39 nTPM
choroid plexus: 31 nTPM
spleen: 25 nTPM
blood vessel: 24 nTPM

Single-cell type

cardiomyocytes: 296 nCPM
myonuclei: 56 nCPM
kupffer cells: 54 nCPM
epididymal principal cells: 53 nCPM
adipocytes: 52 nCPM
epicardial cells: 50 nCPM

Immune cell

intermediate monocyte: 22 nTPM
non-classical monocyte: 21 nTPM
eosinophil: 17 nTPM
myeloid DC: 15 nTPM
basophil: 13 nTPM
classical monocyte: 12 nTPM

Brain region

choroid plexus: 45 nTPM
hypothalamus: 19 nTPM
thalamus: 18 nTPM
midbrain: 18 nTPM
hippocampal formation: 17 nTPM
spinal cord: 17 nTPM

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): 0.69
gnomAD pLI: 0.39
gnomAD missense Z: 0.69
DepMap mean gene effect: 0.07
DepMap dependency class: none

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 DNASE1L1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

HSPA5

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DNASE1L1 as an antibody target. Whether an autoantibody or antibody against DNASE1L1 could matter depends on whether native DNASE1L1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DNASE1L1 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 DNASE1L1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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