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

Gene ID: 5275, updated on 12-Oct-2019

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
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

Genomic context

See SERPINB13 in Genome Data Viewer
Location:
18q21.33
Exon count:
9
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (63586654..63599199)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (61254431..61266433)

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 serpin family B member 12 Neighboring gene serpin family B member 4 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 BioSystems

  • Amoebiasis, organism-specific biosystem (from KEGG)
    Amoebiasis, organism-specific biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
  • Amoebiasis, conserved biosystem (from KEGG)
    Amoebiasis, conserved biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126870

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cysteine-type endopeptidase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
cysteine-type endopeptidase inhibitor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protease binding IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NOT serine-type endopeptidase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
serine-type endopeptidase inhibitor activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
negative regulation of endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of keratinocyte apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of keratinocyte differentiation TAS
Traceable Author Statement
more info
 
regulation of proteolysis NAS
Non-traceable Author Statement
more info
PubMed 
response to UV TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
extracellular exosome HDA PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosomal lumen TAS
Traceable Author Statement
more info
 
nuclear speck IDA
Inferred from Direct Assay
more info
 
NOT nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
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)

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_001307923.1NP_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, DC346089
    Consensus CDS
    CCDS77195.1
    UniProtKB/Swiss-Prot
    Q9UIV8
    UniProtKB/TrEMBL
    A0A0A0MQW3, B7Z447
    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
    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
    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
    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
    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
    Q9UIV8
    Related
    ENSP00000341584.5, ENST00000344731.9
    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: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    63586654..63599199
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011526029.3XP_011524331.1  serpin B13 isoform X1

    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 ...
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