SERPINA3
Alpha-1-antichymotrypsin
Also known as: AACT, AACT_HUMAN, ACT
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P01011
- Gene
- SERPINA3
- Ensembl
- ENSG00000196136
- Chromosome
- 14
- Canonical length
- 423 aa
- Protein class
- Cancer-related genes, Candidate cardiovascular disease genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins, Predicted secreted proteins
- Secretome location
- Secreted to blood
OverviewNCBI Gene
The protein encoded by this gene is a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. This gene is one in a cluster of serpin genes located on the q arm of chromosome 14. Polymorphisms in this protein appear to be tissue specific and influence protease targeting. Variations in this protein's sequence have been implicated in Alzheimer's disease, and deficiency of this protein has been associated with liver disease. Mutations have been identified in patients with Parkinson disease and chronic obstructive pulmonary disease. [provided by RefSeq, Jun 2020]
Canonical amino-acid sequenceUniProt
423 residues, UniProt reviewed canonical sequence.
>P01011|SERPINA3
1 MERMLPLLAL GLLAAGFCPA VLCHPNSPLD EENLTQENQD RGTHVDLGLA SANVDFAFSL
61 YKQLVLKAPD KNVIFSPLSI STALAFLSLG AHNTTLTEIL KGLKFNLTET SEAEIHQSFQ
121 HLLRTLNQSS DELQLSMGNA MFVKEQLSLL DRFTEDAKRL YGSEAFATDF QDSAAAKKLI
181 NDYVKNGTRG KITDLIKDLD SQTMMVLVNY IFFKAKWEMP FDPQDTHQSR FYLSKKKWVM
241 VPMMSLHHLT IPYFRDEELS CTVVELKYTG NASALFILPD QDKMEEVEAM LLPETLKRWR
301 DSLEFREIGE LYLPKFSISR DYNLNDILLQ LGIEEAFTSK ADLSGITGAR NLAVSQVVHK
361 AVLDVFEEGT EASAATAVKI TLLSALVETR TIVRFNRPFL MIIVPTDTQN IFFMSKVTNP
421 KQALocalizationUniProt · AlphaFold · HPA
Whether an antibody against SERPINA3 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)
- 0.27
- Highest tissue expression
- 8,463 nTPM
Expression across tissuesHPA
Tissue
- liver: 8,463 nTPM
- pancreas: 4,871 nTPM
- salivary gland: 1,474 nTPM
- choroid plexus: 1,377 nTPM
- prostate: 594 nTPM
- breast: 350 nTPM
Single-cell type
- astrocytes: 9.4 nCPM
- ependymal cells: 1.2 nCPM
- microglia: 0.4 nCPM
- oligodendrocyte progenitor cells: 0.3 nCPM
- choroid plexus epithelial cells: 0.2 nCPM
- fallopian secretory cells: 0.1 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- hypothalamus: 561 nTPM
- medulla oblongata: 272 nTPM
- midbrain: 267 nTPM
- thalamus: 238 nTPM
- white matter: 220 nTPM
- spinal cord: 163 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SERPINA3.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 118 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- ANTICHYMOTRYPSIN BOCHUM 1
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)
- 1.9
- gnomAD pLI
- 0
- gnomAD missense Z
- -1.37
- DepMap mean gene effect
- 0.02
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- acute-phase response
- inflammatory response
- maintenance of gastrointestinal epithelium
- regulation of lipid metabolic process
- response to cytokine
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SERPINA3 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 SERPINA3 as an antibody target. Whether an autoantibody or antibody against SERPINA3 could matter depends on whether native SERPINA3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SERPINA3 is annotated as secreted, so native SERPINA3 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 SERPINA3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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