Human Gene HGFAC (uc003ghc.3)
  Description: Homo sapiens HGF activator (HGFAC), mRNA.
RefSeq Summary (NM_001528): 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 converts hepatocyte growth factor to the active form. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014].
Transcript (Including UTRs)
   Position: hg19 chr4:3,443,726-3,451,213 Size: 7,488 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg19 chr4:3,443,729-3,451,146 Size: 7,418 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:3,443,726-3,451,213)mRNA (may differ from genome)Protein (655 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCHPRDLynxMGIneXtProt
OMIMPubMedReactomeTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: HGFA_HUMAN
DESCRIPTION: RecName: Full=Hepatocyte growth factor activator; Short=HGF activator; Short=HGFA; EC=3.4.21.-; Contains: RecName: Full=Hepatocyte growth factor activator short chain; Contains: RecName: Full=Hepatocyte growth factor activator long chain; Flags: Precursor;
FUNCTION: Activates hepatocyte growth factor (HGF) by converting it from a single chain to a heterodimeric form.
SUBUNIT: Heterodimer of a short chain and a long chain linked by a disulfide bond.
SUBCELLULAR LOCATION: Secreted. Note=Secreted as an inactive single-chain precursor and is then activated to a heterodimeric form.
TISSUE SPECIFICITY: Liver.
SIMILARITY: Belongs to the peptidase S1 family.
SIMILARITY: Contains 2 EGF-like domains.
SIMILARITY: Contains 1 fibronectin type-I domain.
SIMILARITY: Contains 1 fibronectin type-II domain.
SIMILARITY: Contains 1 kringle domain.
SIMILARITY: Contains 1 peptidase S1 domain.
CAUTION: It is uncertain whether Met-1 is the initiator.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): HGFAC
CDC HuGE Published Literature: HGFAC

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 137.51 RPKM in Liver
Total median expression: 174.67 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -12.1067-0.181 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR014394 - Coagulation_fac_XIIa/HGFA
IPR000742 - EG-like_dom
IPR013032 - EGF-like_CS
IPR000083 - Fibronectin_type1
IPR000562 - FN_type2_col-bd
IPR000001 - Kringle
IPR013806 - Kringle-like
IPR018056 - Kringle_CS
IPR009003 - Pept_cys/ser_Trypsin-like
IPR018114 - Peptidase_S1/S6_AS
IPR001254 - Peptidase_S1_S6
IPR001314 - Peptidase_S1A

Pfam Domains:
PF00008 - EGF-like domain
PF00039 - Fibronectin type I domain
PF00040 - Fibronectin type II domain
PF00051 - Kringle domain
PF00089 - Trypsin
PF12661 - Human growth factor-like EGF

SCOP Domains:
50494 - Trypsin-like serine proteases
57440 - Kringle-like
57196 - EGF/Laminin

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1YBW - X-ray MuPIT 1YC0 - X-ray MuPIT 2R0K - X-ray 2R0L - X-ray 2WUB - X-ray MuPIT 2WUC - X-ray MuPIT 3K2U - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q04756
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004252 serine-type endopeptidase activity
GO:0008233 peptidase activity
GO:0008236 serine-type peptidase activity
GO:0016787 hydrolase activity

Biological Process:
GO:0006508 proteolysis

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  BC112190 - Homo sapiens HGF activator, mRNA (cDNA clone MGC:138395 IMAGE:8327658), complete cds.
BC112192 - Homo sapiens HGF activator, mRNA (cDNA clone MGC:138397 IMAGE:8327660), complete cds.
AK314099 - Homo sapiens cDNA, FLJ94782.
D14012 - Homo sapiens mRNA for HGF activator precursor, complete cds.
KJ896969 - Synthetic construct Homo sapiens clone ccsbBroadEn_06363 HGFAC gene, encodes complete protein.
E07591 - DNA encoding a protease that catalyzes converting reaction of HGF from single-stranded inactive form to double-stranded active form.
E07615 - DNA encoding a protease that catalyzes converting reaction of HGF from single-stranded inactive form to double-stranded active form.
E07590 - DNA encoding a protease that catalyzes converting reaction of HGF from single-stranded inactive form to double-stranded active form.
E07614 - DNA encoding a protease that catalyzes converting reaction of HGF from single-stranded inactive form to double-stranded active form.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q04756 (Reactome details) participates in the following event(s):

R-HSA-6800299 HGFAC cleaves pro-HGF to form HGF dimer
R-HSA-6806942 MET Receptor Activation
R-HSA-6806834 Signaling by MET
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: HGFA_HUMAN, NM_001528, NP_001519, Q04756, Q14726, Q2M1W7, Q53X47
UCSC ID: uc003ghc.3
RefSeq Accession: NM_001528
Protein: Q04756 (aka HGFA_HUMAN)
CCDS: CCDS3369.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001528.2
exon count: 14CDS single in 3' UTR: no RNA size: 2038
ORF size: 1968CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3711.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.