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    SERPINB11 serpin family B member 11 [ Homo sapiens (human) ]

    Gene ID: 89778, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SERPINB11provided by HGNC
    Official Full Name
    serpin family B member 11provided by HGNC
    Primary source
    HGNC:HGNC:14221
    See related
    Ensembl:ENSG00000206072 MIM:615682; AllianceGenome:HGNC:14221
    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
    Also known as
    EPIPIN; SERPIN11
    Summary
    Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of peptidase activity. Predicted to be located in cytoplasm. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Dec 2024]
    Annotation information
    Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
    Expression
    Biased expression in prostate (RPKM 17.6), esophagus (RPKM 11.7) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See SERPINB11 in Genome Data Viewer
    Location:
    18q21.33
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (63702304..63723893)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (63908033..63928969)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (61370194..61391127)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:61308020-61309219 Neighboring gene serpin family B member 4 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:61326051-61327250 Neighboring gene serpin family B member 3 Neighboring gene uncharacterized LOC124904318 Neighboring gene serpin family B member 7

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Loss and gain of function in SERPINB11: an example of a gene under selection on standing variation, with implications for host-pathogen interactions. Seixas S, et al. PLoS One, 2012. PMID 22393410, Free PMC Article
    2. Avian SERPINB11 gene: a marker for ovarian endometrioid cancer in chickens. Lim W, et al. Exp Biol Med (Maywood), 2012 Feb. PMID 22289513
    3. SERPINB11 is a new noninhibitory intracellular serpin. Common single nucleotide polymorphisms in the scaffold impair conformational change. Askew DJ, et al. J Biol Chem, 2007 Aug 24. PMID 17562709
    4. Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions. Denoeud F, et al. Genome Res, 2007 Jun. PMID 17567994, Free PMC Article
    5. Update of the human and mouse SERPIN gene superfamily. Heit C, et al. Hum Genomics, 2013 Oct 30. PMID 24172014, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SERPINB11 is a gene under selection on standing variation, with roles in host-pathogen interactions
      Title: Loss and gain of function in SERPINB11: an example of a gene under selection on standing variation, with implications for host-pathogen interactions.
    2. SERPINB11 has a role in ovarian endometrioid carcinoma in chickens and human
      Title: Avian SERPINB11 gene: a marker for ovarian endometrioid cancer in chickens.
    3. SERPINB11 is a new noninhibitory intracellular serpin
      Title: SERPINB11 is a new noninhibitory intracellular serpin. Common single nucleotide polymorphisms in the scaffold impair conformational change.
    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

    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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    Markers

    Homology

    Clone Names

    • MGC163242, MGC163244

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables serine-type endopeptidase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    serpin B11
    Names
    serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11
    serpin peptidase inhibitor, clade B (ovalbumin), 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_001291278.2 → NP_001278207.1  serpin B11 isoform b

      Status: VALIDATED

      Source sequence(s)
      AC069356, KF459701
      Consensus CDS
      CCDS77196.1
      UniProtKB/TrEMBL
      A0A096LPD5
      Related
      ENSP00000485532.1, ENST00000623262.3
      Conserved Domains (1) summary
      cl00137
      Location:4 → 305
      SERPIN; SERine Proteinase INhibitors (serpins) exhibit conformational polymorphism shifting from native to cleaved, latent, delta, or polymorphic forms. Many serpins, such as antitrypsin and antichymotrypsin, function as serine protease inhibitors which regulate ...

    2. NM_001291279.2 → NP_001278208.1  serpin B11 isoform c

      Status: VALIDATED

      Source sequence(s)
      AC069356, KF459701
      UniProtKB/TrEMBL
      B4DKT7
      Conserved Domains (1) summary
      cl00137
      Location:1 → 217
      SERPIN; SERine Proteinase INhibitors (serpins) exhibit conformational polymorphism shifting from native to cleaved, latent, delta, or polymorphic forms. Many serpins, such as antitrypsin and antichymotrypsin, function as serine protease inhibitors which regulate ...

    3. NM_001370475.1 → NP_001357404.1  serpin B11 isoform a

      Status: VALIDATED

      Source sequence(s)
      AC069356, KF459701
      UniProtKB/Swiss-Prot
      A8K9R0, Q5Q120, Q5Q121, Q5Q122, Q5Q123, Q6ISD3, Q96P13, Q96P14, Q96P15
      UniProtKB/TrEMBL
      A9UKE9, F5GYW9
      Related
      ENSP00000441497.1, ENST00000544088.6
      Conserved Domains (1) summary
      cd02059
      Location:4 → 392
      ovalbumin_like; The ovalbumin_like group of serpins contains ovalbumin, the squamous cell carcinoma antigen 1 (SCCA1) and other closely related serpins of clade B of the serpin superfamily. Ovalbumin, the major protein component of avian egg white, is a non-inhibitory ...

    4. NM_001426565.1 → NP_001413494.1  serpin B11 isoform d

      Status: VALIDATED

      Source sequence(s)
      CP068260

    5. NM_001426567.1 → NP_001413496.1  serpin B11 isoform e

      Status: VALIDATED

      Source sequence(s)
      CP068260
      UniProtKB/TrEMBL
      B4DKT7

    6. NM_080475.5 → NP_536723.2  serpin B11 isoform a

      See identical proteins and their annotated locations for NP_536723.2

      Status: VALIDATED

      Source sequence(s)
      AC069356, KF459701
      UniProtKB/Swiss-Prot
      A8K9R0, Q5Q120, Q5Q121, Q5Q122, Q5Q123, Q6ISD3, Q96P13, Q96P14, Q96P15
      UniProtKB/TrEMBL
      A9UKE9, F5GYW9
      Related
      ENSP00000421854.1, ENST00000382749.9
      Conserved Domains (1) summary
      cd02059
      Location:4 → 392
      ovalbumin_like; The ovalbumin_like group of serpins contains ovalbumin, the squamous cell carcinoma antigen 1 (SCCA1) and other closely related serpins of clade B of the serpin superfamily. Ovalbumin, the major protein component of avian egg white, is a non-inhibitory ...

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      63702304..63723893
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      63908033..63928969
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96P15.2 GenPept UniProtKB/Swiss-Prot:Q96P15

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials