• Gene id: 3083

Gene Summary

• Gene Symbol: HGFAC   Gene   UCSC   Ensembl
• Aliases: HGFA
• Gene name: HGF activator
• Alternate names: hepatocyte growth factor activator,
• Gene location: 4p16.3 (3441967: 3449485)     Exons: 15     NC_000004.12
• Gene summary(Entrez): This gene encodes a member of the peptidase S1 protein family. The encoded protein is first synthesized as an inactive single-chain precursor before being activated to a heterodimeric form by endoproteolytic processing. It acts as serine protease that con
• OMIM: 604552

Protein Summary

• Protein general information: Q04756  
  • Name: Hepatocyte growth factor activator (HGF activator) (HGFA) (EC 3.4.21. ) [Cleaved into: Hepatocyte growth factor activator short chain; Hepatocyte growth factor activator long chain]
  • Length: 655  
  • Mass: 70682
  • Tissue specificity: Liver.
• Sequence:

  MGRWAWVPSPWPPPGLGPFLLLLLLLLLLPRGFQPQPGGNRTESPEPNATATPAIPTILVTSVTSETPATSAPEA
  EGPQSGGLPPPPRAVPSSSSPQAQALTEDGRPCRFPFRYGGRMLHACTSEGSAHRKWCATTHNYDRDRAWGYCVE
  ATPPPGGPAALDPCASGPCLNGGSCSNTQDPQSYHCSCPRAFTGKDCGTEKCFDETRYEYLEGGDRWARVRQGHV
  EQCECFGGRTWCEGTRHTACLSSPCLNGGTCHLIVATGTTVCACPPGFAGRLCNIEPDERCFLGNGTGYRGVAST
  SASGLSCLAWNSDLLYQELHVDSVGAAALLGLGPHAYCRNPDNDERPWCYVVKDSALSWEYCRLEACESLTRVQL
  SPDLLATLPEPASPGRQACGRRHKKRTFLRPRIIGGSSSLPGSHPWLAAIYIGDSFCAGSLVHTCWVVSAAHCFS
  HSPPRDSVSVVLGQHFFNRTTDVTQTFGIEKYIPYTLYSVFNPSDHDLVLIRLKKKGDRCATRSQFVQPICLPEP
  GSTFPAGHKCQIAGWGHLDENVSGYSSSLREALVPLVADHKCSSPEVYGADISPNMLCAGYFDCKSDACQGDSGG
  PLACEKNGVAYLYGIISWGDGCGRLHKPGVYTRVANYVDWINDRIRPPRRLVAPS

• Structural information:
  • Protein Domains: (103..15-)
    (/note="Fibronectin-type-II)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00478,-ECO:0000255|PROSITE-ProRule:PRU00479)
    (160..19-)
    (/note="EGF-like-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (200..24-)
    (/note="Fibro-)
  • Interpro: IPR014394  IPR013032  IPR000742  IPR000083  IPR000562   IPR036943  IPR000001  IPR013806  IPR018056  IPR038178  IPR009003  IPR001314  IPR001254  IPR018114  IPR033116  
  • Prosite: PS00022 PS01186 PS50026 PS01253 PS51091 PS00023 PS51092 PS00021 PS50070 PS50240 PS00134 PS00135
  • CDD: cd00061 cd00062 cd00108 cd00190
  • PDB: 1YBW 1YC0 2R0K 2R0L 2WUB 2WUC 3K2U
  • PDBsum: 1YBW 1YC0 2R0K 2R0L 2WUB 2WUC 3K2U
  • DIP: 6022
  • STRING: ENSP00000421801
• Other Databases: GeneCards:  HGFAC  Malacards:  HGFAC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004252	serine-type endopeptidase activity	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0005791	rough endoplasmic reticulum	IBA	cellular component
GO:0006508	proteolysis	IBA	biological process
GO:0007596	blood coagulation	IBA	biological process
GO:0031638	zymogen activation	IBA	biological process
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0008236	serine-type peptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0006508	proteolysis	TAS	biological process
GO:0005829	cytosol	TAS	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:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	NAS	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray