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

    Gene ID: 12, updated on 27-Nov-2024

    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; 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
    NEW
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    Genomic context

    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

    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

    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

    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

    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 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 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)

    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_001085.5NP_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
      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: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
      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: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
      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: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
      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:40421
      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)