Seroatlas · Human Serome Atlas

SERPINI1

Neuroserpin

Also known as: NEUS_HUMAN, PI12

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

Protein identityUniProt · HPA

UniProt accession
Q99574
Gene
SERPINI1
Ensembl
ENSG00000163536
Chromosome
3
Canonical length
410 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted secreted proteins
Subcellular location
Cytosol
Secretome location
Secreted in brain

OverviewNCBI Gene

This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The protein is primarily secreted by axons in the brain, and preferentially reacts with and inhibits tissue-type plasminogen activator. It is thought to play a role in the regulation of axonal growth and the development of synaptic plasticity. Mutations in this gene result in familial encephalopathy with neuroserpin inclusion bodies (FENIB), which is a dominantly inherited form of familial encephalopathy and epilepsy characterized by the accumulation of mutant neuroserpin polymers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

410 residues, UniProt reviewed canonical sequence.

>Q99574|SERPINI1
     1  MAFLGLFSLL VLQSMATGAT FPEEAIADLS VNMYNRLRAT GEDENILFSP LSIALAMGMM
    61  ELGAQGSTQK EIRHSMGYDS LKNGEEFSFL KEFSNMVTAK ESQYVMKIAN SLFVQNGFHV
   121  NEEFLQMMKK YFNAAVNHVD FSQNVAVANY INKWVENNTN NLVKDLVSPR DFDAATYLAL
   181  INAVYFKGNW KSQFRPENTR TFSFTKDDES EVQIPMMYQQ GEFYYGEFSD GSNEAGGIYQ
   241  VLEIPYEGDE ISMMLVLSRQ EVPLATLEPL VKAQLVEEWA NSVKKQKVEV YLPRFTVEQE
   301  IDLKDVLKAL GITEIFIKDA NLTGLSDNKE IFLSKAIHKS FLEVNEEGSE AAAVSGMIAI
   361  SRMAVLYPQV IVDHPFFFLI RNRRTGTILF MGRVMHPETM NTSGHDFEEL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SERPINI1 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
Secreted
Secreted
Yes
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.25
Highest tissue expression
304 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 304 nTPM
  • spinal cord: 218 nTPM
  • midbrain: 133 nTPM
  • hypothalamus: 127 nTPM
  • hippocampal formation: 120 nTPM
  • amygdala: 117 nTPM

Single-cell type

  • retinal bipolar cells: 179 nCPM
  • oligodendrocytes: 171 nCPM
  • brain inhibitory neurons: 135 nCPM
  • brain excitatory neurons: 131 nCPM
  • other brain neurons: 113 nCPM
  • gonadotrophs: 88 nCPM

Immune cell

  • T-reg: 27 nTPM
  • naive B-cell: 25 nTPM
  • memory B-cell: 22 nTPM
  • memory CD8 T-cell: 10 nTPM
  • memory CD4 T-cell: 9.7 nTPM
  • NK-cell: 9.5 nTPM

Brain region

  • white matter: 189 nTPM
  • cerebral cortex: 187 nTPM
  • basal ganglia: 170 nTPM
  • midbrain: 166 nTPM
  • thalamus: 126 nTPM
  • spinal cord: 124 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SERPINI1.

Disease | AllUniProt

Conditions SERPINI1 is implicated in, by any mechanism.

  • Encephalopathy, familial, with neuroserpin inclusion bodies (FENIB) MIM:604218

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 400 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)
0.64
gnomAD pLI
0.03
gnomAD missense Z
0.42
DepMap mean gene effect
0.09
DepMap dependency class
none

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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SERPINI1 as an antibody target. Whether an autoantibody or antibody against SERPINI1 could matter depends on whether native SERPINI1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SERPINI1 is annotated as secreted, so native SERPINI1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label SERPINI1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SERPINI1. 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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