Format

Send to:

Choose Destination

HGFAC HGF activator [ Homo sapiens (human) ]

Gene ID: 3083, updated on 8-Dec-2018

Summary

Official Symbol
HGFACprovided by HGNC
Official Full Name
HGF activatorprovided by HGNC
Primary source
HGNC:HGNC:4894
See related
Ensembl:ENSG00000109758 MIM:604552
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HGFA
Summary
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]
Expression
Restricted expression toward liver (RPKM 27.9) See more
Orthologs

Genomic context

See HGFAC in Genome Data Viewer
Location:
4p16.3
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (3441933..3449495)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (3443702..3451214)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene X antigen family member 3 pseudogene Neighboring gene regulator of G protein signaling 12 Neighboring gene ribosomal protein L7a pseudogene 29 Neighboring gene uncharacterized LOC105374354 Neighboring gene uncharacterized LOC105374355 Neighboring gene docking protein 7

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
NHGRI GWA Catalog

Pathways from BioSystems

  • MET Receptor Activation, organism-specific biosystem (from REACTOME)
    MET Receptor Activation, organism-specific biosystemHepatocyte growth factor (HGF), the ligand for MET receptor tyrosine kinase (RTK), is secreted into the extracellular matrix (ECM) as an inactive single chain precursor (pro-HGF). The biologically ac...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by MET, organism-specific biosystem (from REACTOME)
    Signaling by MET, organism-specific biosystemMET is a receptor tyrosine kinase (RTK) (Cooper et al. 1984, Park et al. 1984) activated by binding to its ligand, Hepatocyte growth factor/Scatter factor (HGF/SF) (Bottaro et al. 1991, Naldini et al...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC138395, MGC138397

Gene Ontology Provided by GOA

Function Evidence Code Pubs
serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
serine-type endopeptidase activity TAS
Traceable Author Statement
more info
 
serine-type peptidase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
rough endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
hepatocyte growth factor activator
NP_001284368.1
NP_001519.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001297439.1NP_001284368.1  hepatocyte growth factor activator isoform 1 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK314099, BC112190, D14012
    Consensus CDS
    CCDS75098.1
    UniProtKB/Swiss-Prot
    Q04756
    UniProtKB/TrEMBL
    D6RAR4
    Related
    ENSP00000421801.1, ENST00000511533.1
    Conserved Domains (7) summary
    smart00059
    Location:102148
    FN2; Fibronectin type 2 domain
    smart00020
    Location:414648
    Tryp_SPc; Trypsin-like serine protease
    cd00054
    Location:162197
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00061
    Location:200240
    FN1; Fibronectin type 1 domain, approximately 40 residue long with two conserved disulfide bridges. FN1 is one of three types of internal repeats which combine to form larger domains within fibronectin. Fibronectin, a plasma protein that binds cell surfaces ...
    cd00190
    Location:415650
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam00051
    Location:286367
    Kringle; Kringle domain
    pfam15671
    Location:34169
    PRR18; Proline-rich protein family 18
  2. NM_001528.3NP_001519.1  hepatocyte growth factor activator isoform 2 preproprotein

    See identical proteins and their annotated locations for NP_001519.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    BC112190, D14012
    Consensus CDS
    CCDS3369.1
    UniProtKB/Swiss-Prot
    Q04756
    Related
    ENSP00000372224.3, ENST00000382774.7
    Conserved Domains (7) summary
    smart00059
    Location:102148
    FN2; Fibronectin type 2 domain
    smart00020
    Location:407641
    Tryp_SPc; Trypsin-like serine protease
    cd00054
    Location:162197
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00061
    Location:200240
    FN1; Fibronectin type 1 domain, approximately 40 residue long with two conserved disulfide bridges. FN1 is one of three types of internal repeats which combine to form larger domains within fibronectin. Fibronectin, a plasma protein that binds cell surfaces ...
    cd00190
    Location:408643
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam00051
    Location:286367
    Kringle; Kringle domain
    pfam15671
    Location:34169
    PRR18; Proline-rich protein family 18

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    3441933..3449495
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center