U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

SERPINA3 serpin family A member 3 [ Homo sapiens (human) ]

Gene ID: 12, updated on 17-Mar-2024

Summary

Go to the top of the page Help
Official Symbol
SERPINA3provided by HGNC
Official Full Name
serpin family A member 3provided by HGNC
Primary source
HGNC:HGNC:16
See related
Ensembl:ENSG00000196136 MIM:107280; AllianceGenome:HGNC:16
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ACT; AACT; GIG24; GIG25
Summary
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]
Expression
Biased expression in liver (RPKM 989.5), gall bladder (RPKM 89.2) and 4 other tissues See more
Orthologs
all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
14q32.13
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (94612391..94624053)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (88842378..88854040)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (95078728..95090390)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene serpin family A member 5 Neighboring gene uncharacterized LOC112268127 Neighboring gene uncharacterized LOC124903411 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:95065522-95066360 Neighboring gene adiponectin receptor 1 pseudogene 2 Neighboring gene serpin family A member 13, pseudogene

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Overexpression of SERPINA3 suppresses tumor progression by modulating SPOP/NF‑κB in lung cancer. Jin Y, et al. Int J Oncol, 2023 Aug. PMID 37417362, Free PMC Article
  2. Newly revealed variants of SERPINA3 in generalized pustular psoriasis attenuate inhibition of ACT on cathepsin G. Liu Y, et al. J Hum Genet, 2023 Jun. PMID 36828876
  3. Immune-related SERPINA3 as a biomarker involved in diabetic nephropathy renal tubular injury. Fan Z, et al. Front Immunol, 2022. PMID 36304455, Free PMC Article
  4. Identification and validation of two alternatively spliced novel isoforms of human α-1-antichymotrypsin. Fatima S, et al. Biochem Biophys Res Commun, 2022 Nov 5. PMID 36063599
  5. Unfolding the cascade of SERPINA3: Inflammation to cancer. Soman A, et al. Biochim Biophys Acta Rev Cancer, 2022 Sep. PMID 35843512

See all (224) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. SERPINA3: A novel inflammatory biomarker associated with cerebral small vessel disease burden in ischemic stroke.
    Title: SERPINA3: A novel inflammatory biomarker associated with cerebral small vessel disease burden in ischemic stroke.
  2. Hypothermic machine perfusion reduces donation after circulatory death liver ischemia-reperfusion injury through the SERPINA3-mediated PI3Kdelta/Akt pathway.
    Title: Hypothermic machine perfusion reduces donation after circulatory death liver ischemia-reperfusion injury through the SERPINA3-mediated PI3Kδ/Akt pathway.
  3. LAMB3 Promotes Intestinal Inflammation Through SERPINA3 and Is Directly Transcriptionally Regulated by P65 in Inflammatory Bowel Disease.
    Title: LAMB3 Promotes Intestinal Inflammation Through SERPINA3 and Is Directly Transcriptionally Regulated by P65 in Inflammatory Bowel Disease.
  4. Overexpression of SERPINA3 suppresses tumor progression by modulating SPOP/NF-kappaB in lung cancer.
    Title: Overexpression of SERPINA3 suppresses tumor progression by modulating SPOP/NF‑κB in lung cancer.
  5. Newly revealed variants of SERPINA3 in generalized pustular psoriasis attenuate inhibition of ACT on cathepsin G.
    Title: Newly revealed variants of SERPINA3 in generalized pustular psoriasis attenuate inhibition of ACT on cathepsin G.
  6. Association of alpha-1-Antichymotrypsin Expression with the Development of Conformational Changes of Tau Protein in Alzheimer's Disease Brain.
    Title: Association of α-1-Antichymotrypsin Expression with the Development of Conformational Changes of Tau Protein in Alzheimer's Disease Brain.
  7. Immune-related SERPINA3 as a biomarker involved in diabetic nephropathy renal tubular injury.
    Title: Immune-related SERPINA3 as a biomarker involved in diabetic nephropathy renal tubular injury.
  8. Unfolding the cascade of SERPINA3: Inflammation to cancer.
    Title: Unfolding the cascade of SERPINA3: Inflammation to cancer.
  9. Urinary serpin-A3 is an early predictor of clinical response to therapy in patients with proliferative lupus nephritis.
    Title: Urinary serpin-A3 is an early predictor of clinical response to therapy in patients with proliferative lupus nephritis.
  10. Kallistatin/Serpina3c inhibits cardiac fibrosis after myocardial infarction by regulating glycolysis via Nr4a1 activation.
    Title: Kallistatin/Serpina3c inhibits cardiac fibrosis after myocardial infarction by regulating glycolysis via Nr4a1 activation.
Submit: New GeneRIF Correction See all GeneRIFs (83)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

Go to the top of the page Help

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120-treated vaginal epithelial cells show upregulation of serpin peptidase inhibitor, clade A, member 3 (SERPINA3) expression as compared to untreated control PubMed
Tat tat Microarray analysis indicates HIV-1 Tat-induced upregulation of serpin peptidase inhibitor, clade A, member 3 (SERPINA3) in primary human brain microvascular endothelial cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • MGC88254

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding TAS
Traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables serine-type endopeptidase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables serine-type endopeptidase inhibitor activity TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in acute-phase response IEA
Inferred from Electronic Annotation
more info
  
involved_in inflammatory response NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in maintenance of gastrointestinal epithelium NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in negative regulation of endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of lipid metabolic process NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in azurophil granule lumen TAS
Traceable Author Statement
more info
  
located_in blood microparticle HDA PubMed 
located_in collagen-containing extracellular matrix HDA PubMed 
located_in extracellular exosome HDA PubMed 
located_in extracellular region NAS
Non-traceable Author Statement
more info
 PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in extracellular space HDA PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular space IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus TAS
Traceable Author Statement
more info
 PubMed 
located_in platelet alpha granule lumen TAS
Traceable Author Statement
more info
  
located_in secretory granule lumen TAS
Traceable Author Statement
more info
  

General protein information

Go to the top of the page Help
Preferred Names
alpha-1-antichymotrypsin
Names
cell growth-inhibiting gene 24/25 protein
growth-inhibiting protein 24
growth-inhibiting protein 25
serine (or cysteine) proteinase inhibitor, clade A, member 3
serpin A3
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012879.1 RefSeqGene

    Range
    5015..16677
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001085.5 → NP_001076.2  alpha-1-antichymotrypsin precursor

    See identical proteins and their annotated locations for NP_001076.2

    Status: REVIEWED

    Source sequence(s)
    BC003559, DA131576
    Consensus CDS
    CCDS32150.1
    UniProtKB/Swiss-Prot
    B3KVQ7, P01011, Q13703, Q2TU87, Q2TU88, Q59GP9, Q6LBY8, Q6LDT7, Q6NSC9, Q8N177, Q96DW8, Q9UC47, Q9UNU9
    UniProtKB/TrEMBL
    B3KS79
    Related
    ENSP00000376793.3, ENST00000393078.5
    Conserved Domains (1) summary
    cd19551
    Location:40 → 421
    serpinA3_A1AC; serpin family A member 3, alpha 1-antichymotrypsin

  2. NM_001384672.1 → NP_001371601.1  alpha-1-antichymotrypsin precursor

    Status: REVIEWED

    Source sequence(s)
    AL049839
    Consensus CDS
    CCDS32150.1
    UniProtKB/Swiss-Prot
    B3KVQ7, P01011, Q13703, Q2TU87, Q2TU88, Q59GP9, Q6LBY8, Q6LDT7, Q6NSC9, Q8N177, Q96DW8, Q9UC47, Q9UNU9
    UniProtKB/TrEMBL
    B3KS79
    Conserved Domains (1) summary
    cd19551
    Location:40 → 421
    serpinA3_A1AC; serpin family A member 3, alpha 1-antichymotrypsin

  3. NM_001384673.1 → NP_001371602.1  alpha-1-antichymotrypsin precursor

    Status: REVIEWED

    Source sequence(s)
    AL049839
    Consensus CDS
    CCDS32150.1
    UniProtKB/Swiss-Prot
    B3KVQ7, P01011, Q13703, Q2TU87, Q2TU88, Q59GP9, Q6LBY8, Q6LDT7, Q6NSC9, Q8N177, Q96DW8, Q9UC47, Q9UNU9
    UniProtKB/TrEMBL
    B3KS79
    Conserved Domains (1) summary
    cd19551
    Location:40 → 421
    serpinA3_A1AC; serpin family A member 3, alpha 1-antichymotrypsin

  4. NM_001384674.1 → NP_001371603.1  alpha-1-antichymotrypsin precursor

    Status: REVIEWED

    Source sequence(s)
    AL049839
    Consensus CDS
    CCDS32150.1
    UniProtKB/Swiss-Prot
    B3KVQ7, P01011, Q13703, Q2TU87, Q2TU88, Q59GP9, Q6LBY8, Q6LDT7, Q6NSC9, Q8N177, Q96DW8, Q9UC47, Q9UNU9
    UniProtKB/TrEMBL
    B3KS79
    Conserved Domains (1) summary
    cd19551
    Location:40 → 421
    serpinA3_A1AC; serpin family A member 3, alpha 1-antichymotrypsin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    94612391..94624053
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    88842378..88854040
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P01011.2 GenPept UniProtKB/Swiss-Prot:P01011

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous