• Gene id: 81502

Gene Summary

• Gene Symbol: HM13   Gene   UCSC   Ensembl
• Aliases: H13, IMP1, IMPAS, IMPAS-1, MSTP086, PSENL3, PSL3, SPP, SPPL1
• Gene name: histocompatibility minor 13
• Alternate names: minor histocompatibility antigen H13, intramembrane protease 1, minor histocompatibility antigen 13, presenilin-like protein 3, signal peptide peptidase beta, signal peptide peptidase like 1,
• Gene location: 20q11.21 (31514409: 31569566)     Exons: 13     NC_000020.11
• Gene summary(Entrez): The protein encoded by this gene, which localizes to the endoplasmic reticulum, catalyzes intramembrane proteolysis of some signal peptides after they have been cleaved from a preprotein. This activity is required to generate signal sequence-derived human
• OMIM: 607106

Protein Summary

• Protein general information: Q8TCT9  
  • Name: Minor histocompatibility antigen H13 (EC 3.4.23. ) (Intramembrane protease 1) (IMP 1) (IMPAS 1) (hIMP1) (Presenilin like protein 3) (Signal peptide peptidase)
  • Length: 377  
  • Mass: 41488
  • Tissue specificity: Widely expressed with highest levels in kidney, liver, placenta, lung, leukocytes and small intestine and reduced expression in heart and skeletal muscle. Expressed abundantly in the CNS with highest levels in thalamus and medulla. {EC
• Sequence:

  MDSALSDPHNGSAEAGGPTNSTTRPPSTPEGIALAYGSLLLMALLPIFFGALRSVRCARGKNASDMPETITSRDA
  ARFPIIASCTLLGLYLFFKIFSQEYINLLLSMYFFVLGILALSHTISPFMNKFFPASFPNRQYQLLFTQGSGENK
  EEIINYEFDTKDLVCLGLSSIVGVWYLLRKHWIANNLFGLAFSLNGVELLHLNNVSTGCILLGGLFIYDVFWVFG
  TNVMVTVAKSFEAPIKLVFPQDLLEKGLEANNFAMLGLGDVVIPGIFIALLLRFDISLKKNTHTYFYTSFAAYIF
  GLGLTIFIMHIFKHAQPALLYLVPACIGFPVLVALAKGEVTEMFSYEESNPKDPAAVTESKEGTEASASKGLEKK
  EK

• Structural information:
  • Interpro: IPR007369  IPR006639  
• Other Databases: GeneCards:  HM13  Malacards:  HM13

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005789	endoplasmic reticulum membrane	IC	cellular component
GO:1904211	membrane protein proteolysis involved in retrograde protein transport, ER to cytosol	IMP	biological process
GO:0036513	Derlin-1 retrotranslocation complex	IDA	cellular component
GO:0071458	integral component of cytoplasmic side of endoplasmic reticulum membrane	IBA	cellular component
GO:0033619	membrane protein proteolysis	IBA	biological process
GO:0006465	signal peptide processing	IBA	biological process
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	IBA	cellular component
GO:0042500	aspartic endopeptidase activity, intramembrane cleaving	IBA	molecular function
GO:0071458	integral component of cytoplasmic side of endoplasmic reticulum membrane	IDA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0005791	rough endoplasmic reticulum	IDA	cellular component
GO:0005791	rough endoplasmic reticulum	IDA	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	IDA	cellular component
GO:0042500	aspartic endopeptidase activity, intramembrane cleaving	IDA	molecular function
GO:0006509	membrane protein ectodomain proteolysis	IMP	NOT|biological process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0042500	aspartic endopeptidase activity, intramembrane cleaving	IMP	molecular function
GO:0031293	membrane protein intracellular domain proteolysis	IMP	NOT|biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004190	aspartic-type endopeptidase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0001701	in utero embryonic development	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0033619	membrane protein proteolysis	IDA	biological process
GO:0008233	peptidase activity	IDA	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0005783	endoplasmic reticulum	ISS	cellular component
GO:0009986	cell surface	ISS	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray