Hgfac MGI Mouse Gene Detail - MGI:1859281 - hepatocyte growth factor activator

Symbol

Hgfac
Name

hepatocyte growth factor activator
Synonyms

HGFA

Feature Type

protein coding gene
IDs

MGI:1859281
NCBI Gene: 54426
Alliance

genome feature page
Transcription Start Sites

8 TSS

Sequence Map

Chr5:35198853-35205805 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 5, 17.99 cM
Mapping Data

2 experiments

SNPs within 2kb

269 from dbSNP Build 142
Strain Annotations

19

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1859281	protein coding gene	Chr5:35198853-35205805 (+)
129S1/SvImJ	ENSMUSG00200029985	protein coding gene	Chr5:30667942-30674858 (+)
A/J	ENSMUSG00195046393	protein coding gene	Chr5:30145451-30152370 (+)
AKR/J	ENSMUSG00220007904	protein coding gene	Chr5:30165818-30172736 (+)
BALB/cJ	ENSMUSG00180030982	protein coding gene	Chr5:29948336-29955254 (+)
C3H/HeJ	ENSMUSG00175019560	protein coding gene	Chr5:31927902-31934821 (+)
C57BL/6NJ	ENSMUSG00215004606	protein coding gene	Chr5:30665170-30672086 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0027142	protein coding gene	Chr5:29979369-29986303 (+)
CAST/EiJ	ENSTCUG00005024421	protein coding gene	Chr5:30145049-30151959 (+)
CBA/J	ENSMUSG00210004579	protein coding gene	Chr5:30896735-30903653 (+)
DBA/2J	ENSMUSG00185015533	protein coding gene	Chr5:32760276-32767200 (+)
FVB/NJ	ENSMUSG00205031995	protein coding gene	Chr5:29640599-29647524 (+)
JF1/MsJ	ENSUMUG00000034129	protein coding gene	Chr5:37356156-37363051 (+)
LP/J	ENSMUSG00230047506	protein coding gene	Chr5:37371592-37378507 (+)
NOD/ShiLtJ	ENSMUSG00190015557	protein coding gene	Chr5:29922689-29929613 (+)
NZO/HlLtJ	ENSMUSG00225016091	protein coding gene	Chr5:42577811-42584726 (+)
PWK/PhJ	ENSLUMG00010045467	protein coding gene	Chr5:30053152-30060045 (+)
SPRET/EiJ	ENSMSPG00010029495	protein coding gene	Chr5:31259942-31266856 (+)
WSB/EiJ	ENSIUOG00005016796	protein coding gene	Chr5:32850675-32857593 (+)

Human Ortholog

HGFAC, HGF activator

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

HGFAC, HGF activator
Synonyms

HGFA
Links

HGNC:4894

NCBI Gene ID: 3083

UniProt: Q04756
Chr Location

4p16.3; chr4:3441005-3449493 (+) GRCh38

MGI Vertebrate Homology

Hgfac stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: HGFAC
Protein SuperFamily

Factor_XII_HGFA
Gene Tree

Hgfac

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References

1 with disease annotations

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Phenotype Summary

2 phenotypes from 1 allele in 1 genetic background
35 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

20
Chemically induced (ENU)

1
Chemically induced (other)

2
Endonuclease-mediated

6
Radiation induced

4
Spontaneous

1
Targeted

6
Genomic Mutations

8 involving Hgfac
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

27 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null mice display impaired intestinal regeneration and increased mortality after intestinal injury.

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All GO Annotations

15
GO References

7

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

671
Tissues

24
cDNA Data

41
Literature Summary

7

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase hgfac

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All Sequences

77
RefSeq

14
UniProt

7
CCDS

CCDS19223.1

Ensembl

ENSMUSG00000029102 (Evidence)
NCBI Gene

54426

			Length	Strain/Species	Flank
genomic	54426	NCBI Gene Model \| MGI Sequence Detail	6953	C57BL/6J	± kb
transcript	NM_019447	RefSeq \| MGI Sequence Detail	2172	C57BL/6
polypeptide	Q9R098	UniProt \| EBI \| MGI Sequence Detail	653	Not Applicable

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UniProt

7 Sequences
Protein Ontology

PR:000008535 hepatocyte growth factor activator serine protease

(term hierarchy)
EC

3.4.21.-, 3.4.21.1
InterPro Domains

IPR014394 Coagulation factor XII/hepatocyte growth factor activator

IPR000742 EGF-like domain

IPR000083 Fibronectin, type I

IPR000562 Fibronectin type II domain

IPR036943 Fibronectin type II domain superfamily

IPR000001 Kringle

IPR018056 Kringle, conserved site

IPR013806 Kringle-like fold

IPR038178 Kringle superfamily

IPR001314 Peptidase S1A, chymotrypsin family

IPR009003 Peptidase S1, PA clan

IPR018114 Serine protease-like, trypsin family, histidine active site

IPR050127 Serine Proteases (Peptidase S1 Family)

IPR001254 Serine proteases, trypsin domain

IPR033116 Serine proteases, trypsin family, serine active site
GlyGen

Q9R098 7 sites, 1 N-linked glycan (1 site)

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All nucleic 45

cDNA 42

Primer pair 2

Other 1

Antibodies 3

Microarray probesets 3

Summaries

All 67

Developmental Gene Expression 7

Diseases 1

Gene Ontology 7

Phenotypes 35
Earliest

J:5021 Batchelor AL, et al., A comparison of the mutagenic effectiveness of chronic neutron- and gamma-irradiation of mouse spermatogonia. Mutat Res. 1966 Jun;3(3):218-29
Latest

J:360855 Nakata T, et al., Genetic vulnerability to Crohn's disease reveals a spatially resolved epithelial restitution program. Sci Transl Med. 2023 Oct 25;15(719):eadg5252

TSS for Hgfac:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr45923	Chr5:35198883-35198939 (+)	58 bp
Tssr45924	Chr5:35198966-35198997 (+)	129 bp
Tssr45925	Chr5:35199631-35199678 (+)	802 bp
Tssr45926	Chr5:35199765-35199779 (+)	919 bp
Tssr45927	Chr5:35199898-35199912 (+)	1,052 bp
Tssr45928	Chr5:35202607-35202615 (+)	3,758 bp
Tssr45929	Chr5:35202619-35202629 (+)	3,771 bp
Tssr45930	Chr5:35203827-35203837 (+)	4,979 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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