• Gene id: 5267

Gene Summary

• Gene Symbol: SERPINA4   Gene   UCSC   Ensembl
• Aliases: KAL, KLST, KST, PI-4, PI4, kallistatin
• Gene name: serpin family A member 4
• Alternate names: kallistatin, kallikrein inhibitor, peptidase inhibitor 4, protease inhibitor 4 (kallistatin), serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4, serpin A4, serpin peptidase inhibitor, clade A (alpha-1 antiprotein,
• Gene location: 14q32.13 (94561441: 94569905)     Exons: 27     NC_000014.9
• OMIM: 147935

SNPs

rs6563386

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.36202894C>A
NC_000013.11   g.36202894C>G
NC_000013.11   g.36202894C>T
NC_000013.10   g.36777031C>A
NC_000013.10   g.36777031C>G
NC_000013.10   g.36777031C>T
NG_033786.1   g.16722G>T
NG_033786.1   g.16722G>C
NG_033786.1   g.16722G>A|SEQ=[C/A/G/T]|GENE=

rs2231829

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.45547937G>A
NC_000020.10   g.44176576G>A|SEQ=[G/A]|GENE=EPPIN
EPPIN-WFDC6   100526773

rs1328626

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.36204635C>A
NC_000013.10   g.36778772C>A
NG_033786.1   g.14981G>T|SEQ=[C/A]|GENE=SOHLH2
CCDC169-SOHLH2   100526761

rs11594

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.45542073C>A
NC_000020.11   g.45542073C>G
NC_000020.11   g.45542073C>T
NC_000020.10   g.44170712C>A
NC_000020.10   g.44170712C>G
NC_000020.10   g.44170712C>T
NM_020398.3   c.*71G>T
NM_020398.3   c.*71G>C
NM_020398.3   c.*71G>A
NM_020398.4   c.*71G>T
NM_0  

Protein Summary

• Protein general information: P29622  
  • Name: Kallistatin (Kallikrein inhibitor) (Peptidase inhibitor 4) (PI 4) (Serpin A4)
  • Length: 427  
  • Mass: 48542
  • Tissue specificity: Expressed by the liver and secreted in plasma.
• Sequence:

  MHLIDYLLLLLVGLLALSHGQLHVEHDGESCSNSSHQQILETGEGSPSLKIAPANADFAFRFYYLIASETPGKNI
  FFSPLSISAAYAMLSLGACSHSRSQILEGLGFNLTELSESDVHRGFQHLLHTLNLPGHGLETRVGSALFLSHNLK
  FLAKFLNDTMAVYEAKLFHTNFYDTVGTIQLINDHVKKETRGKIVDLVSELKKDVLMVLVNYIYFKALWEKPFIS
  SRTTPKDFYVDENTTVRVPMMLQDQEHHWYLHDRYLPCSVLRMDYKGDATVFFILPNQGKMREIEEVLTPEMLMR
  WNNLLRKRNFYKKLELHLPKFSISGSYVLDQILPRLGFTDLFSKWADLSGITKQQKLEASKSFHKATLDVDEAGT
  EAAAATSFAIKFFSAQTNRHILRFNRPFLVVIFSTSTQSVLFLGKVVDPTKP

• Structural information:
  • Interpro: IPR023795  IPR023796  IPR000215  IPR036186  IPR042178   IPR042185  
  • Prosite: PS00284
  • PDB: 6F02
  • PDBsum: 6F02
  • STRING: ENSP00000450838
• Other Databases: GeneCards:  SERPINA4  Malacards:  SERPINA4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004867	serine-type endopeptidase inhibitor activity	IBA	molecular function
GO:0010951	negative regulation of endopeptidase activity	IBA	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0010466	negative regulation of peptidase activity	IEA	biological process
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	TAS	molecular function
GO:0002576	platelet degranulation	TAS	biological process
GO:0031089	platelet dense granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0005576	extracellular region	HDA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Diabetic retinopathy	PMID:8950506
Teratozoospermia	MIK: 17327269

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)