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    SERPINB13 serpin family B member 13 [ Homo sapiens (human) ]

    Gene ID: 5275, updated on 3-Dec-2024

    Summary

    Official Symbol
    SERPINB13provided by HGNC
    Official Full Name
    serpin family B member 13provided by HGNC
    Primary source
    HGNC:HGNC:8944
    See related
    Ensembl:ENSG00000197641 MIM:604445; AllianceGenome:HGNC:8944
    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
    HUR7; PI13; headpin; HSHUR7SEQ
    Summary
    The protein encoded by this gene is a member of the serpin family of serine protease inhibitors. The encoded protein inhibits the activity of cathepsin K and is itself transcriptionally repressed by RUNX1. This gene is downregulated in many types of cancer. [provided by RefSeq, Jan 2017]
    Expression
    Restricted expression toward esophagus (RPKM 94.0) See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See SERPINB13 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 (63587343..63599192)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (63792453..63804288)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (61254577..61266426)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene serpin family B member 5 Neighboring gene ATP synthase membrane subunit c locus 1 pseudogene 6 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:61178432-61178952 Neighboring gene serpin family B member 12 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:61255863-61257062 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

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC126870

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in extracellular exosome HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in lysosomal lumen TAS
    Traceable Author Statement
    more info
     
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
     
    NOT located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    serpin B13
    Names
    HURPIN
    PI-13
    UV-B repressed sequence, HUR 7
    haCaT UV-repressible serpin
    peptidase inhibitor 13
    protease inhibitor 13 (hurpin, headpin)
    proteinase inhibitor 13
    serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13
    serpin peptidase inhibitor, clade B (ovalbumin), member 13

    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_052858.1 RefSeqGene

      Range
      5142..16991
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001307923.2NP_001294852.1  serpin B13 isoform 1

      See identical proteins and their annotated locations for NP_001294852.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AJ001696, AK296797, AL050177
      Consensus CDS
      CCDS77195.1
      UniProtKB/TrEMBL
      A0A0A0MQW3, B7ZKV6
      Related
      ENSP00000269489.6, ENST00000269489.9
      Conserved Domains (1) summary
      cl00137
      Location:4400
      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_001348267.2NP_001335196.1  serpin B13 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), as well as variant 4, encodes isoform 3.
      Source sequence(s)
      AC090307
      UniProtKB/TrEMBL
      B7Z4X7
      Conserved Domains (1) summary
      cl00137
      Location:22255
      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_001348268.2NP_001335197.1  serpin B13 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), as well as variant 3, encodes isoform 3.
      Source sequence(s)
      AC090307
      UniProtKB/TrEMBL
      B7Z4X7
      Conserved Domains (1) summary
      cl00137
      Location:22255
      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 ...
    4. NM_001348269.2NP_001335198.1  serpin B13 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variant 6, encodes isoform 4.
      Source sequence(s)
      AC090307
      UniProtKB/TrEMBL
      B7Z4X7
      Conserved Domains (1) summary
      cl00137
      Location:2212
      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 ...
    5. NM_001348270.2NP_001335199.1  serpin B13 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variant 5, encodes isoform 4.
      Source sequence(s)
      AC090307
      UniProtKB/TrEMBL
      B7Z4X7
      Conserved Domains (1) summary
      cl00137
      Location:2212
      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 ...
    6. NM_012397.4NP_036529.1  serpin B13 isoform 2

      See identical proteins and their annotated locations for NP_036529.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AJ001696, AL050177, BC101821, DC346089
      Consensus CDS
      CCDS11985.1
      UniProtKB/Swiss-Prot
      A8K2Q8, Q3MII2, Q9HCX1, Q9UBW1, Q9UIV8, Q9UKG0
      UniProtKB/TrEMBL
      B7ZKV6
      Related
      ENSP00000341584.6, ENST00000344731.10
      Conserved Domains (1) summary
      cl00137
      Location:4391
      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 ...

    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
      63587343..63599192
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011526029.4XP_011524331.1  serpin B13 isoform X1

      UniProtKB/TrEMBL
      B7ZKV6
      Conserved Domains (1) summary
      cl00137
      Location:4390
      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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      63792453..63804288
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318691.1XP_054174666.1  serpin B13 isoform X1

      UniProtKB/TrEMBL
      B7ZKV6