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

Gene ID: 256394, updated on 27-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
  • 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
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