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    SERPINA11 serpin family A member 11 [ Homo sapiens (human) ]

    Gene ID: 256394, updated on 14-Nov-2024

    Summary

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    Official Symbol
    SERPINA11provided by HGNC
    Official Full Name
    serpin family A member 11provided by HGNC
    Primary source
    HGNC:HGNC:19193
    See related
    Ensembl:ENSG00000186910 MIM:619619; AllianceGenome:HGNC:19193
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of peptidase activity. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward liver (RPKM 125.9) See more
    Orthologs
    all
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    Genomic context

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    See SERPINA11 in Genome Data Viewer
    Location:
    14q32.13
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (94442464..94452800, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (88671981..88682312, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (94908801..94919137, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene serpin family A member 2 (gene/pseudogene) Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:94839554-94840753 Neighboring gene serpin family A member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94856427-94856928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94856929-94857428 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:94917415-94918091 Neighboring gene uncharacterized LOC105370635 Neighboring gene serpin family A member 9 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:94939998-94940750

    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. Whole-exome sequencing analysis in twin sibling males with an anterior cruciate ligament rupture. Caso E, et al. Injury, 2016 Sep. PMID 27692106
    2. Clinical implications of gene dosage and gene expression patterns in diploid breast carcinoma. Parris TZ, et al. Clin Cancer Res, 2010 Aug 1. PMID 20551037
    3. SERPINA11 related novel serpinopathy - A perinatal lethal disorder. Aggarwal S, et al. Clin Genet, 2024 Sep. PMID 38831697
    4. Identification of latent biomarkers in hepatocellular carcinoma by ultra-deep whole-transcriptome sequencing. Lin KT, et al. Oncogene, 2014 Sep 25. PMID 24141781
    5. Genetically distinct subsets within ANCA-associated vasculitis. Lyons PA, et al. N Engl J Med, 2012 Jul 19. PMID 22808956, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SERPINA11 related novel serpinopathy - A perinatal lethal disorder.
      Title: SERPINA11 related novel serpinopathy - A perinatal lethal disorder.
    Submit: New GeneRIF Correction

    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
    Genetically distinct subsets within ANCA-associated vasculitis.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    serpin A11
    Names
    antiproteinase-like 2
    serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11
    serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11

    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.

    mRNA and Protein(s)

    1. NM_001080451.2 → NP_001073920.1  serpin A11 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001073920.1

      Status: VALIDATED

      Source sequence(s)
      AL132708
      Consensus CDS
      CCDS32149.1
      UniProtKB/Swiss-Prot
      B2RV07, Q86U17
      Related
      ENSP00000335024.3, ENST00000334708.4
      Conserved Domains (1) summary
      cd02056
      Location:53 → 416
      alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...

    2. NM_001429948.1 → NP_001416877.1  serpin A11 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL132708

    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
      94442464..94452800 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      88671981..88682312 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86U17.2 GenPept UniProtKB/Swiss-Prot:Q86U17

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
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