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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 61

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 MET promotes cell motility and Signaling by GPCR. 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

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

Genomics for HGFAC Gene

Regulatory Elements for HGFAC Gene

Enhancers for HGFAC Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G003384 1.8 FANTOM5 Ensembl ENCODE dbSUPER 6.2 -54.3 -54252 6.5 HDGF TBP PKNOX1 ATF1 TBL1XR1 BMI1 DNMT3B RAD21 ZBTB40 YY1 RGS12 HGFAC DOK7 HTT PIR55428 PIR36896
GH04G003044 1.6 FANTOM5 Ensembl ENCODE 4.5 -395.0 -394990 4.4 PKNOX1 ATF1 WRNIP1 ARID4B ZNF2 ZNF48 ZNF143 FOS JUNB REST SH3BP2 HTT-AS GRK4 HGFAC RGS12 TNIP2 GC04P003047 GC04P003058
GH04G003407 1 ENCODE 5.6 -33.5 -33516 1.7 ATF1 MLX ZFP64 ARID4B DMAP1 YY1 SLC30A9 ZNF121 SP5 ZHX2 HGFAC DOK7 PIR36896 PIR55428
GH04G003058 0.9 Ensembl ENCODE 4.4 -382.7 -382749 1.3 RFX1 BHLHE40 MAX DPF2 POLR2A EED IKZF1 RELB IKZF2 CREM GRK4 HGFAC GC04P003058 GC04M003060
GH04G003009 0.8 ENCODE 4.5 -431.1 -431114 2.7 SOX13 CTCF PKNOX1 ARID4B CEBPG ZNF384 RAD21 NCOR1 SMC3 FOS GRK4 HGFAC GC04M003004 GC04P003044
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HGFAC on UCSC Golden Path with GeneCards custom track

Genomic Location for HGFAC Gene

Chromosome:
4
Start:
3,441,887 bp from pter
End:
3,449,495 bp from pter
Size:
7,609 bases
Orientation:
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:
    Q04756-HGFA_HUMAN
    Recommended name:
    Hepatocyte growth factor activator
    Protein Accession:
    Q04756
    Secondary Accessions:
    • Q14726
    • Q2M1W7
    • Q53X47

    Protein attributes for HGFAC Gene

    Size:
    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

Q04756:
  • DACQGDSGG
  • GDSGGPL
  • PWLAAIY
  • WVVSAAHC
  • CQGDSGGP

Post-translational modifications for HGFAC Gene

  • Glycosylation at isoforms=48, isoforms=290, isoforms=468, and isoforms=546
  • 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

Assay Products

  • Cloud-Clone Corp. Assay Kits for HGFAC

Domains & Families for HGFAC Gene

Suggested Antigen Peptide Sequences for HGFAC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q04756

UniProtKB/Swiss-Prot:

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

No data available for Gene Families for HGFAC Gene

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

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 IEA,TAS 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

Clone 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

COMPARTMENTS
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 NAS,IEA 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

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

Clone Products

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

No ASD Table

Relevant External Links for HGFAC Gene

GeneLoc Exon Structure for
HGFAC
ECgene alternative splicing isoforms for
HGFAC

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:

HGFAC

SOURCE GeneReport for Unigene cluster for HGFAC Gene:

Hs.104

mRNA Expression by UniProt/SwissProt for HGFAC Gene:

Q04756-HGFA_HUMAN
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
chimpanzee
(Pan troglodytes)
Mammalia HGFAC 34 35
  • 99.13 (n)
cow
(Bos Taurus)
Mammalia HGFAC 34 35
  • 85.08 (n)
dog
(Canis familiaris)
Mammalia HGFAC 34 35
  • 84.79 (n)
mouse
(Mus musculus)
Mammalia Hgfac 34 16 35
  • 81.59 (n)
rat
(Rattus norvegicus)
Mammalia Hgfac 34
  • 81.11 (n)
oppossum
(Monodelphis domestica)
Mammalia HGFAC 35
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HGFAC 35
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves HGFAC 34 35
  • 61.09 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia hgfac 34
  • 57.92 (n)
Str.11975 34
zebrafish
(Danio rerio)
Actinopterygii CABZ01065401.1 35
  • 48 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Tequila 36
  • 36 (a)
worm
(Caenorhabditis elegans)
Secernentea C07G1.1 36
  • 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

ENSEMBL:
Gene Tree for HGFAC (if available)
TreeFam:
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 Sequence Context AA Info Type
rs1000049963 -- 3,440,260(+) AGGAG(A/G)GTCTG downstream-variant-500B, upstream-variant-2KB
rs1000200470 -- 3,444,501(+) ACACC(C/G/T)GAGTG intron-variant
rs1000343588 -- 3,447,932(+) TGTGC(C/T)ACACG reference, synonymous-codon
rs1000433435 -- 3,446,367(+) CTGTC(C/T)CCACC intron-variant
rs1000485574 -- 3,443,879(+) TGTGC(C/G)CCTCC 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)

Relevant External Links for HGFAC Gene

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

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

Disorders for HGFAC Gene

Relevant External Links for HGFAC

Genetic Association Database (GAD)
HGFAC
Human Genome Epidemiology (HuGE) Navigator
HGFAC
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HGFAC

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 responsible for activation of hepatocyte growth factor. Structural similarity of the protease precursor to blood coagulation factor XII. (PMID: 7683665) Miyazawa K. … Kitamura N. (J. Biol. Chem. 1993) 2 3 4 22 64
  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. (J. Mol. Biol. 2005) 3 4 22 64
  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. (Eur. J. Biochem. 1998) 3 4 22 64
  4. Activation of the zymogen of hepatocyte growth factor activator by thrombin. (PMID: 8226803) Shimomura T. … Kitamura N. (J. Biol. Chem. 1993) 2 3 22 64
  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 Clin Pract 2010) 3 46 64

Products for HGFAC Gene

Sources for HGFAC Gene

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