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

    Gene ID: 12, updated on 2-Nov-2024

    Summary

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    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
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    Genomic context

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    See SERPINA3 in Genome Data Viewer
    Location:
    14q32.13
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (94612391..94624053)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (88842378..88854040)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Alpha1-antichymotrypsin/Alzheimer's peptide Abeta(1-42) complex perturbs lipid metabolism and activates transcription factors PPARgamma and NFkappaB in human neuroblastoma (Kelly) cells. Sun YX, et al. J Neurosci Res, 2002 Feb 15. PMID 11835318
    2. The homozygote AA genotype of the alpha1-antichymotrypsin gene may confer protection against early-onset Parkinson's disease in women. Lin JJ, et al. Parkinsonism Relat Disord, 2004 Dec. PMID 15542006
    3. Allele-specific overexpression in astrocytes of an Alzheimer's disease associated alpha-1-antichymotrypsin promoter polymorphism. Ritchie A, et al. Brain Res Mol Brain Res, 2004 Nov 24. PMID 15530656
    4. Lack of association of alpha-1 antichymotrypsin gene polymorphism with PR3-ANCA and MPO-ANCA associated vasculitis. Borgmann S, et al. Autoimmunity, 2002 Nov. PMID 12685871
    5. Nucleation of alpha 1-antichymotrypsin polymerization. Crowther DC, et al. Biochemistry, 2003 Mar 4. PMID 12600202

    See all (234) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SERPINA3 is a marker of cartilage differentiation and is essential for the expression of extracellular matrix genes during early chondrogenesis.
      Title: SERPINA3 is a marker of cartilage differentiation and is essential for the expression of extracellular matrix genes during early chondrogenesis.
    2. Immunohistochemical Expression of the SERPINA3 Protein in Uterine Fibroids.
      Title: Immunohistochemical Expression of the SERPINA3 Protein in Uterine Fibroids.
    3. Regulation of CNS pathology by Serpina3n/SERPINA3: The knowns and the puzzles.
      Title: Regulation of CNS pathology by Serpina3n/SERPINA3: The knowns and the puzzles.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (86)

    Phenotypes

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    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

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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 negative regulation of peptidase activity IEA
    Inferred from Electronic Annotation
    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

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    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_001085.5 → 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_2024_08

    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.

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