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Aliases for HGFAC Gene

Aliases for HGFAC Gene

  • HGF Activator 2 3 4 5
  • HGFA 3 4
  • Hepatocyte Growth Factor Activator 3
  • EC 3.4.21.- 4
  • EC 3.4.21 56

External Ids for HGFAC Gene

Previous GeneCards Identifiers for HGFAC Gene

  • GC04P003446
  • GC04P003347
  • GC04P003475
  • GC04P003480
  • GC04P003413

Summaries for HGFAC Gene

Entrez Gene Summary for HGFAC Gene

  • 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]

GeneCards Summary for HGFAC Gene

HGFAC (HGF Activator) is a Protein Coding gene. Among its related pathways are Development HGF signaling pathway and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and serine-type peptidase activity. An important paralog of this gene is F12.

UniProtKB/Swiss-Prot for HGFAC Gene

  • Activates hepatocyte growth factor (HGF) by converting it from a single chain to a heterodimeric form.

Gene Wiki entry for HGFAC Gene

Additional gene information for HGFAC Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HGFAC Gene

Genomics for HGFAC Gene

GeneHancer (GH) Regulatory Elements for HGFAC Gene

Promoters and enhancers for HGFAC Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I003441 Promoter 1 EPDnew 550.8 +0.1 62 0.1 DRAP1 TFAP4 THRB ZNF48 RARA POLR2A NR2F6 GATAD2A SP5 KLF6 HGFAC LOC105374354
GH04I003442 Enhancer 0.4 FANTOM5 550.8 -0.7 -699 0.4 ZNF600 PRDM10 KMT2B HGFAC RGS12 PIR44828
GH04I003384 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 6.2 -54.3 -54252 6.5 HDGF PKNOX1 ATF1 SIN3A BMI1 BATF IRF4 DNMT3B ZBTB40 YY1 RGS12 HGFAC DOK7 HTT PIR55428 PIR36896
GH04I003044 Enhancer 1.4 FANTOM5 Ensembl ENCODE 4.5 -395.0 -394990 4.4 PKNOX1 CLOCK ATF1 ARID4B ZNF2 ZNF48 ZNF143 FOS ATF7 RUNX3 GC04P003047 SH3BP2 HTT-AS GRK4 HGFAC RGS12 TNIP2 GC04P003058
GH04I003407 Enhancer 0.9 ENCODE 5.7 -33.5 -33515 1.7 MLX ZFP64 ARID4B DMAP1 ETS1 YY1 SLC30A9 RXRA SP5 ZHX2 HGFAC DOK7 PIR36896 PIR55428 RGS12
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HGFAC on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HGFAC gene promoter:

Genomic Locations for HGFAC Gene

Genomic Locations for HGFAC Gene
7,609 bases
Plus strand

Genomic View for HGFAC Gene

Genes around HGFAC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HGFAC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HGFAC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HGFAC Gene

Proteins for HGFAC Gene

  • Protein details for HGFAC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Hepatocyte growth factor activator
    Protein Accession:
    Secondary Accessions:
    • Q14726
    • Q2M1W7
    • Q53X47

    Protein attributes for HGFAC Gene

    655 amino acids
    Molecular mass:
    70682 Da
    Quaternary structure:
    • Heterodimer of a short chain and a long chain linked by a disulfide bond.

    Three dimensional structures from OCA and Proteopedia for HGFAC Gene

neXtProt entry for HGFAC Gene

Selected DME Specific Peptides for HGFAC Gene


Post-translational modifications for HGFAC Gene

  • Glycosylation at posLast=4848, isoforms=290, isoforms=468, and posLast=546546
  • Modification sites at PhosphoSitePlus

Other Protein References for HGFAC Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for HGFAC (HGF Activator)
  • Santa Cruz Biotechnology (SCBT) Antibodies for HGFAC

Domains & Families for HGFAC Gene

Gene Families for HGFAC Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Plasma proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for HGFAC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peptidase S1 family.
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with HGFAC: view

Function for HGFAC Gene

Molecular function for HGFAC Gene

GENATLAS Biochemistry:
hepatocyte growth factor activator,precursor,serine protease involved in the endoproteolytic processing of HGF
UniProtKB/Swiss-Prot Function:
Activates hepatocyte growth factor (HGF) by converting it from a single chain to a heterodimeric form.

Enzyme Numbers (IUBMB) for HGFAC Gene

Phenotypes From GWAS Catalog for HGFAC Gene

Gene Ontology (GO) - Molecular Function for HGFAC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity TAS --
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity TAS,IEA 8226803
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with HGFAC: view
genes like me logo Genes that share phenotypes with HGFAC: view

Animal Models for HGFAC Gene

MGI Knock Outs for HGFAC:

Animal Model Products

  • Taconic Biosciences Mouse Models for HGFAC

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HGFAC Gene

Localization for HGFAC Gene

Subcellular locations from UniProtKB/Swiss-Prot for HGFAC Gene

Secreted. Note=Secreted as an inactive single-chain precursor and is then activated to a heterodimeric form.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HGFAC gene
Compartment Confidence
extracellular 5
cytosol 4
plasma membrane 3
cytoskeleton 2
lysosome 1

Gene Ontology (GO) - Cellular Components for HGFAC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,NAS 14718574
GO:0005615 extracellular space IEA --
GO:0005737 cytoplasm IEA --
GO:0005791 rough endoplasmic reticulum IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with HGFAC: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HGFAC Gene

Pathways & Interactions for HGFAC Gene

genes like me logo Genes that share pathways with HGFAC: view

Pathways by source for HGFAC Gene

3 Reactome pathways for HGFAC Gene
1 GeneGo (Thomson Reuters) pathway for HGFAC Gene

Gene Ontology (GO) - Biological Process for HGFAC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
genes like me logo Genes that share ontologies with HGFAC: view

No data available for SIGNOR curated interactions for HGFAC Gene

Drugs & Compounds for HGFAC Gene

(3) Drugs for HGFAC Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for HGFAC Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with HGFAC: view

Transcripts for HGFAC Gene

mRNA/cDNA for HGFAC Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(15) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HGFAC Gene

HGF activator:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for HGFAC Gene

No ASD Table

Relevant External Links for HGFAC Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HGFAC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HGFAC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HGFAC Gene

This gene is overexpressed in Liver (x45.1).

Protein differential expression in normal tissues from HIPED for HGFAC Gene

This gene is overexpressed in Serum (25.7), Plasma (20.0), and Synovial fluid (16.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HGFAC Gene

NURSA nuclear receptor signaling pathways regulating expression of HGFAC Gene:


SOURCE GeneReport for Unigene cluster for HGFAC Gene:


mRNA Expression by UniProt/SwissProt for HGFAC Gene:

Tissue specificity: Liver.

Evidence on tissue expression from TISSUES for HGFAC Gene

  • Liver(4.6)
  • Bone marrow(4.1)
genes like me logo Genes that share expression patterns with HGFAC: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for HGFAC Gene

Orthologs for HGFAC Gene

This gene was present in the common ancestor of animals.

Orthologs for HGFAC Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia HGFAC 33 34
  • 99.13 (n)
(Bos Taurus)
Mammalia HGFAC 33 34
  • 85.08 (n)
(Canis familiaris)
Mammalia HGFAC 33 34
  • 84.79 (n)
(Mus musculus)
Mammalia Hgfac 33 16 34
  • 81.59 (n)
(Rattus norvegicus)
Mammalia Hgfac 33
  • 81.11 (n)
(Monodelphis domestica)
Mammalia HGFAC 34
  • 65 (a)
(Ornithorhynchus anatinus)
Mammalia HGFAC 34
  • 61 (a)
(Gallus gallus)
Aves HGFAC 33 34
  • 61.09 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia hgfac 33
  • 57.92 (n)
Str.11975 33
(Danio rerio)
Actinopterygii CABZ01065401.1 34
  • 48 (a)
fruit fly
(Drosophila melanogaster)
Insecta Tequila 35
  • 36 (a)
(Caenorhabditis elegans)
Secernentea C07G1.1 35
  • 34 (a)
Species where no ortholog for HGFAC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HGFAC Gene

Gene Tree for HGFAC (if available)
Gene Tree for HGFAC (if available)

Paralogs for HGFAC Gene

Variants for HGFAC Gene

Sequence variations from dbSNP and Humsavar for HGFAC Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000049963 -- 3,440,260(+) G/A upstream_transcript_variant
rs1000200470 -- 3,444,501(+) C/G/T intron_variant
rs1000343588 -- 3,447,932(+) C/T coding_sequence_variant, synonymous_variant
rs1000433435 -- 3,446,367(+) C/T intron_variant
rs1000485574 -- 3,443,879(+) C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for HGFAC Gene

Variant ID Type Subtype PubMed ID
dgv637n27 CNV loss 19166990
dgv8926n54 CNV loss 21841781
esv2662185 CNV deletion 23128226
esv2759219 CNV gain 17122850
esv3599428 CNV loss 21293372
esv3599429 CNV loss 21293372
esv3599430 CNV gain 21293372
nsv1008575 CNV gain 25217958
nsv10424 CNV gain 18304495
nsv4202 CNV deletion 18451855
nsv428435 CNV gain 18775914
nsv461169 CNV loss 19166990
nsv470004 CNV loss 18288195
nsv516505 CNV loss 19592680
nsv593457 CNV loss 21841781
nsv818208 CNV loss 17921354
nsv829840 CNV loss 17160897
nsv949766 CNV deletion 24416366

Variation tolerance for HGFAC Gene

Residual Variation Intolerance Score: 96.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.36; 88.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HGFAC Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HGFAC Gene

Disorders for HGFAC Gene

Additional Disease Information for HGFAC

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for HGFAC Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HGFAC Gene

Publications for HGFAC Gene

  1. Molecular cloning and sequence analysis of the cDNA for a human serine protease reponsible for activation of hepatocyte growth factor. Structural similarity of the protease precursor to blood coagulation factor XII. (PMID: 7683665) Miyazawa K … Kitamura N (The Journal of biological chemistry 1993) 2 3 4 22 58
  2. Conformational lability in serine protease active sites: structures of hepatocyte growth factor activator (HGFA) alone and with the inhibitory domain from HGFA inhibitor-1B. (PMID: 15713485) Shia S … Eigenbrot C (Journal of molecular biology 2005) 3 4 22 58
  3. Structural organization and chromosomal localization of the human hepatocyte growth factor activator gene--phylogenetic and functional relationship with blood coagulation factor XII, urokinase, and tissue-type plasminogen activator. (PMID: 9874200) Miyazawa K … Kitamura N (European journal of biochemistry 1998) 3 4 22 58
  4. Activation of the zymogen of hepatocyte growth factor activator by thrombin. (PMID: 8226803) Shimomura T … Kitamura N (The Journal of biological chemistry 1993) 2 3 22 58
  5. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PMID: 20424473) Yokoyama K … Hosoya T (Nephron. Clinical practice 2010) 3 44 58

Products for HGFAC Gene

Sources for HGFAC Gene

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