Seroatlas · Human Serome Atlas

SEL1L

Protein sel-1 homolog 1

Also known as: Hrd3, IBD2, SE1L1_HUMAN, SEL1L1

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

Protein identityUniProt · HPA

UniProt accession
Q9UBV2
Gene
SEL1L
Ensembl
ENSG00000071537
Chromosome
14
Canonical length
794 aa
Protein class
Predicted intracellular proteins, Predicted membrane proteins, Transporters
Secretome location
Intracellular and membrane
Quaternary structure
Homodimer

OverviewNCBI Gene

The protein encoded by this gene is part of a protein complex required for the retrotranslocation or dislocation of misfolded proteins from the endoplasmic reticulum lumen to the cytosol, where they are degraded by the proteasome in a ubiquitin-dependent manner. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

Canonical amino-acid sequenceUniProt

794 residues, UniProt reviewed canonical sequence.

>Q9UBV2|SEL1L
     1  MRVRIGLTLL LCAVLLSLAS ASSDEEGSQD ESLDSKTTLT SDESVKDHTT AGRVVAGQIF
    61  LDSEESELES SIQEEEDSLK SQEGESVTED ISFLESPNPE NKDYEEPKKV RKPALTAIEG
   121  TAHGEPCHFP FLFLDKEYDE CTSDGREDGR LWCATTYDYK ADEKWGFCET EEEAAKRRQM
   181  QEAEMMYQTG MKILNGSNKK SQKREAYRYL QKAASMNHTK ALERVSYALL FGDYLPQNIQ
   241  AAREMFEKLT EEGSPKGQTA LGFLYASGLG VNSSQAKALV YYTFGALGGN LIAHMVLGYR
   301  YWAGIGVLQS CESALTHYRL VANHVASDIS LTGGSVVQRI RLPDEVENPG MNSGMLEEDL
   361  IQYYQFLAEK GDVQAQVGLG QLHLHGGRGV EQNHQRAFDY FNLAANAGNS HAMAFLGKMY
   421  SEGSDIVPQS NETALHYFKK AADMGNPVGQ SGLGMAYLYG RGVQVNYDLA LKYFQKAAEQ
   481  GWVDGQLQLG SMYYNGIGVK RDYKQALKYF NLASQGGHIL AFYNLAQMHA SGTGVMRSCH
   541  TAVELFKNVC ERGRWSERLM TAYNSYKDGD YNAAVIQYLL LAEQGYEVAQ SNAAFILDQR
   601  EASIVGENET YPRALLHWNR AASQGYTVAR IKLGDYHFYG FGTDVDYETA FIHYRLASEQ
   661  QHSAQAMFNL GYMHEKGLGI KQDIHLAKRF YDMAAEASPD AQVPVFLALC KLGVVYFLQY
   721  IRETNIRDMF TQLDMDQLLG PEWDLYLMTI IALLLGTVIA YRQRQHQDMP APRPPGPRPA
   781  PPQQEGPPEQ QPPQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SEL1L 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
1
Mean surface accessibility (rSASA)
0.33
Highest tissue expression
380 nTPM

Expression across tissuesHPA

Tissue

  • pancreas: 380 nTPM
  • liver: 62 nTPM
  • thyroid gland: 51 nTPM
  • placenta: 36 nTPM
  • duodenum: 35 nTPM
  • colon: 34 nTPM

Single-cell type

  • pancreatic acinar cells: 496 nCPM
  • epididymal principal cells: 400 nCPM
  • plasma cells: 356 nCPM
  • neutrophils: 199 nCPM
  • prostatic glandular cells: 190 nCPM
  • hepatocytes: 156 nCPM

Immune cell

  • neutrophil: 46 nTPM
  • basophil: 32 nTPM
  • intermediate monocyte: 26 nTPM
  • eosinophil: 25 nTPM
  • non-classical monocyte: 23 nTPM
  • classical monocyte: 20 nTPM

Brain region

  • white matter: 58 nTPM
  • medulla oblongata: 46 nTPM
  • spinal cord: 44 nTPM
  • thalamus: 43 nTPM
  • basal ganglia: 42 nTPM
  • hypothalamus: 41 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SEL1L.

Disease | AllUniProt

Conditions SEL1L is implicated in, by any mechanism.

  • Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies (NEDGSAF) MIM:621067
  • Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia (NEDHGFA) MIM:621068

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 110 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia

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)
0.3
gnomAD pLI
0.98
gnomAD missense Z
2.41
DepMap mean gene effect
-0.18
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SEL1L 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 SEL1L as an antibody target. Whether an autoantibody or antibody against SEL1L could matter depends on whether native SEL1L is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SEL1L 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 SEL1L as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SEL1L. 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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