Seroatlas · Human Serome Atlas

DERL1

Derlin-1

Also known as: DER-1, DER1, DERL1_HUMAN, derlin-1, FLJ13784, MGC3067, PRO2577

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

Protein identityUniProt · HPA

UniProt accession: Q9BUN8
Gene: DERL1
Ensembl: ENSG00000136986
Chromosome: 8
Canonical length: 251 aa
Protein class: Plasma proteins, Predicted membrane proteins, Transporters
Subcellular location: Endoplasmic reticulum
Quaternary structure: Homotetramer

OverviewNCBI Gene

The protein encoded by this gene is a member of the derlin family. Members of this family participate in the ER-associated degradation response and retrotranslocate misfolded or unfolded proteins from the ER lumen to the cytosol for proteasomal degradation. This protein recognizes substrate in the ER and works in a complex to retrotranslocate it across the ER membrane into the cytosol. This protein may select cystic fibrosis transmembrane conductance regulator protein (CFTR) for degradation as well as unfolded proteins in Alzheimer's disease. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]

Canonical amino-acid sequenceUniProt

251 residues, UniProt reviewed canonical sequence.

>Q9BUN8|DERL1
     1  MSDIGDWFRS IPAITRYWFA ATVAVPLVGK LGLISPAYLF LWPEAFLYRF QIWRPITATF
    61  YFPVGPGTGF LYLVNLYFLY QYSTRLETGA FDGRPADYLF MLLFNWICIV ITGLAMDMQL
   121  LMIPLIMSVL YVWAQLNRDM IVSFWFGTRF KACYLPWVIL GFNYIIGGSV INELIGNLVG
   181  HLYFFLMFRY PMDLGGRNFL STPQFLYRWL PSRRGGVSGF GVPPASMRRA ADQNGGGGRH
   241  NWGQGFRLGD Q

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DERL1 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: Other membrane
Secreted: No
Transmembrane segments: 6
Mean surface accessibility (rSASA): 0.35
Highest tissue expression: 98 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 98 nTPM
liver: 72 nTPM
skeletal muscle: 69 nTPM
adipose tissue: 65 nTPM
tonsil: 52 nTPM
appendix: 51 nTPM

Single-cell type

plasma cells: 255 nCPM
late primary spermatocytes: 129 nCPM
esophageal apical cells: 113 nCPM
pancreatic duct cells: 101 nCPM
syncytiotrophoblasts: 101 nCPM
esophageal suprabasal cells: 93 nCPM

Immune cell

MAIT T-cell: 93 nTPM
gdT-cell: 90 nTPM
total PBMC: 83 nTPM
T-reg: 80 nTPM
non-classical monocyte: 78 nTPM
NK-cell: 78 nTPM

Brain region

choroid plexus: 51 nTPM
cerebellum: 37 nTPM
white matter: 36 nTPM
hypothalamus: 33 nTPM
cerebral cortex: 32 nTPM
hippocampal formation: 32 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): 0.84
gnomAD pLI: 0
gnomAD missense Z: 1.12
DepMap mean gene effect: -0.16
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 22% 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 DERL1 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 DERL1 as an antibody target. Whether an autoantibody or antibody against DERL1 could matter depends on whether native DERL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DERL1 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 DERL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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