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

Gene ID: 5275, updated on 2-Nov-2024

Summary

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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
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Genomic context

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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

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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. Analysis of UVB-modulated gene expression in human keratinocytes by mRNA differential display polymerase chain reaction. Abts HF, et al. Photochem Photobiol, 1997 Sep. PMID 9297979
  2. Identification and cDNA cloning of headpin, a novel differentially expressed serpin that maps to chromosome 18q. Spring P, et al. Biochem Biophys Res Commun, 1999 Oct 14. PMID 10527881
  3. Genomic cloning, mapping, structure and promoter analysis of HEADPIN, a serpin which is down-regulated in head and neck cancer cells. Nakashima T, et al. Biochim Biophys Acta, 2000 Jul 24. PMID 11004515
  4. Sequence, organization, chromosomal localization, and alternative splicing of the human serine protease inhibitor gene hurpin (PI13) which is upregulated in psoriasis. Abts HF, et al. DNA Cell Biol, 2001 Mar. PMID 11313015
  5. Expression of hurpin, a serine proteinase inhibitor, in normal and pathological skin: overexpression and redistribution in psoriasis and cutaneous carcinomas. Moussali H, et al. Exp Dermatol, 2005 Jun. PMID 15885077

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. clade B serpins help to maintain homeostasis by inducing protective humoral immunity
    Title: Enhanced anti-serpin antibody activity inhibits autoimmune inflammation in type 1 diabetes.
  2. These data demonstrate that RUNX1 is an important regulator of SERPINB13 and cathepsin K activity.
    Title: SERPINB13 is a novel RUNX1 target gene.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic analysis of diabetic nephropathy on chromosome 18 in African Americans: linkage analysis and dense SNP mapping.
  4. Downregulation of SERPINB13 protein expression in HNSCC is positively associated with poor clinical outcome. Therefore, SERPINB13 seems to act as an important protease inhibitor involved in the progression of HNSCC.
    Title: Downregulation of SERPINB13 expression in head and neck squamous cell carcinomas associates with poor clinical outcome.
  5. Down-regulation of SERPINB13 is associated with head and neck squamous cell carcinoma
    Title: Headpin: a serpin with endogenous and exogenous suppression of angiogenesis.
  6. Hurpin is a selective inhibitor of lysosomal cathepsin L and protects keratinocytes from ultraviolet-induced apoptosis.
    Title: Hurpin is a selective inhibitor of lysosomal cathepsin L and protects keratinocytes from ultraviolet-induced apoptosis.
  7. A novel member of the serine proteinase inhibitor (Serpin) gene family that was originally cloned from a keratinocyte cDNA library. It has specificity for inhibiting lysosomal cysteine proteinases.
    Title: Inhibition of the cysteine proteinases cathepsins K and L by the serpin headpin (SERPINB13): a kinetic analysis.
  8. hurpin is expressed in skin and has a possible role in inflammatory processes or the regulation of endogenous or pathogen-derived proteinase activity
    Title: Expression of hurpin, a serine proteinase inhibitor, in normal and pathological skin: overexpression and redistribution in psoriasis and cutaneous carcinomas.
  9. the expression of hurpin was confined mainly to the basal layer in normal skin samples, whereas hurpin was overexpressed and redistributed in diseased skin
    Title: Expression of cathepsin L and its inhibitor hurpin in inflammatory and neoplastic skin diseases.
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Phenotypes

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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)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC126870

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cysteine-type endopeptidase inhibitor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables cysteine-type endopeptidase inhibitor activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables protease binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
NOT enables serine-type endopeptidase inhibitor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables serine-type endopeptidase inhibitor activity NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of endopeptidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of keratinocyte apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of proteolysis NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in response to UV TAS
Traceable Author Statement
more info
 PubMed 
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

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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)

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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.

Genomic

  1. NG_052858.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001307923.2 → NP_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:4 → 400
    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_001348267.2 → NP_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:22 → 255
    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_001348268.2 → NP_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:22 → 255
    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_001348269.2 → NP_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:2 → 212
    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_001348270.2 → NP_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:2 → 212
    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_012397.4 → NP_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:4 → 391
    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_011526029.4 → XP_011524331.1  serpin B13 isoform X1

    UniProtKB/TrEMBL
    B7ZKV6
    Conserved Domains (1) summary
    cl00137
    Location:4 → 390
    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_054318691.1 → XP_054174666.1  serpin B13 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UIV8.2 GenPept UniProtKB/Swiss-Prot:Q9UIV8

Gene LinkOut

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