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

Gene ID: 12, updated on 11-Jun-2021

Summary

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
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
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Genomic context

See SERPINA3 in Genome Data Viewer
Location:
14q32.13
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (94612391..94624053)
105.20201022 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 4 Neighboring gene serpin family A member 5 Neighboring gene uncharacterized LOC112268127 Neighboring gene adiponectin receptor 1 pseudogene 2 Neighboring gene serpin family A member 13, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.
GeneReviews: Not available

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
involved_in neutrophil degranulation TAS
Traceable Author Statement
more info
 
involved_in platelet degranulation TAS
Traceable Author Statement
more info
 
involved_in regulation of lipid metabolic process NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

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)

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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_001085.5NP_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
    P01011
    UniProtKB/TrEMBL
    A0A024R6P0
    Related
    ENSP00000376793.3, ENST00000393078.5
    Conserved Domains (1) summary
    cd19551
    Location:40421
    serpinA3_A1AC; serpin family A member 3, alpha 1-antichymotrypsin
  2. NM_001384672.1NP_001371601.1  alpha-1-antichymotrypsin precursor

    Status: REVIEWED

    Source sequence(s)
    AL049839
    Conserved Domains (1) summary
    cd19551
    Location:40421
    serpinA3_A1AC; serpin family A member 3, alpha 1-antichymotrypsin
  3. NM_001384673.1NP_001371602.1  alpha-1-antichymotrypsin precursor

    Status: REVIEWED

    Source sequence(s)
    AL049839
    Conserved Domains (1) summary
    cd19551
    Location:40421
    serpinA3_A1AC; serpin family A member 3, alpha 1-antichymotrypsin
  4. NM_001384674.1NP_001371603.1  alpha-1-antichymotrypsin precursor

    Status: REVIEWED

    Source sequence(s)
    AL049839
    Conserved Domains (1) summary
    cd19551
    Location:40421
    serpinA3_A1AC; serpin family A member 3, alpha 1-antichymotrypsin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

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