Furin MGI Mouse Gene Detail - MGI:97513 - furin, paired basic amino acid cleaving enzyme

Symbol

Furin
Name

furin, paired basic amino acid cleaving enzyme
Synonyms

9130404I01Rik, Fur, PACE, Pcsk3, SPC1

Feature Type

protein coding gene
IDs

MGI:97513
NCBI Gene: 18550
Alliance

gene page
Transcription Start Sites

20 TSS

Sequence Map

Chr7:80038942-80055188 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 45.65 cM, cytoband D1-E2
Mapping Data

12 experiments

SNPs within 2kb

391 from dbSNP Build 142
Strain Annotations

18
RFLP

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_97513	protein coding gene	Chr7:80038333-80055188 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0032415	protein coding gene	Chr7:82360191-82378087 (-)
A/J	MGP_AJ_G0032394	protein coding gene	Chr7:80432182-80448817 (-)
AKR/J	MGP_AKRJ_G0032330	protein coding gene	Chr7:82177031-82193666 (-)
BALB/cJ	MGP_BALBcJ_G0032406	protein coding gene	Chr7:80106800-80124303 (-)
C3H/HeJ	MGP_C3HHeJ_G0032119	protein coding gene	Chr7:82824963-82841830 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0032898	protein coding gene	Chr7:85596525-85615100 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0029906	protein coding gene	Chr7:82952599-82969373 (-)
CAST/EiJ	MGP_CASTEiJ_G0031447	protein coding gene	Chr7:73713405-73730076 (-)
CBA/J	MGP_CBAJ_G0032085	protein coding gene	Chr7:88435580-88455086 (-)
DBA/2J	MGP_DBA2J_G0032240	protein coding gene	Chr7:78989968-79007048 (-)
FVB/NJ	MGP_FVBNJ_G0032195	protein coding gene	Chr7:78904069-78921335 (-)
LP/J	MGP_LPJ_G0032321	protein coding gene	Chr7:83599935-83617698 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0032232	protein coding gene	Chr7:88589606-88608787 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0032916	protein coding gene	Chr7:81607111-81627046 (-)
PWK/PhJ	MGP_PWKPhJ_G0031167	protein coding gene	Chr7:72178349-72195664 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0031008	protein coding gene	Chr7:68617998-68635671 (-)
WSB/EiJ	MGP_WSBEiJ_G0031565	protein coding gene	Chr7:81969903-81987772 (-)

Human Ortholog

FURIN, furin, paired basic amino acid cleaving enzyme

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

FURIN, furin, paired basic amino acid cleaving enzyme
Synonyms

FUR, PACE, PCSK3, SPC1
Links

HGNC:8568

NCBI Gene ID: 5045

neXtProt AC: NX_P09958

UniProt: P09958
Chr Location

15q26.1; chr15:90868588-90883564 (+) GRCh38

MGI Vertebrate Homology

Furin stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: FURIN
Gene Tree

Furin

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Phenotype Summary

47 phenotypes from 4 alleles in 7 genetic backgrounds
12 phenotypes from multigenic genotypes
51 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

15
Chemically induced (other)

1
Endonuclease-mediated

4
Gene trapped

2
Radiation induced

2
Targeted

6
Genomic Mutations

3 involving Furin
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

48 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null embryos die at E10.5-E11.5. Embryos homozygous for one knock-out allele show multiple tissue abnormalities including abnormal yolk sac vasculature and chorioallantoic fusion, failure of axial rotation, a kinked neural tube, exencephaly and severe ventral closure and cardiac defects.

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All GO Annotations

81
GO References

20

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

843
Tissues

72
cDNA Data

98
Literature Summary

22

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase furin

ZFIN furina, furinb

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All Sequences

65
RefSeq

20
UniProt

4
CCDS

CCDS21397.1

Ensembl

ENSMUSG00000030530 (Evidence)
NCBI Gene

18550

			Length	Strain/Species	Flank
genomic	18550	NCBI Gene Model \| MGI Sequence Detail	16247	C57BL/6J	± kb
transcript	NM_011046	RefSeq \| MGI Sequence Detail	4336	ZRU/MplStud
polypeptide	P23188	UniProt \| EBI \| MGI Sequence Detail	793	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000003137 furin

(term hierarchy)
PDB

1P8J
EC

3.4.21.75
InterPro Domains

IPR006212 Furin-like repeat

IPR008979 Galactose-binding-like domain superfamily

IPR009030 Growth factor receptor cysteine-rich domain superfamily

IPR034182 Kexin/furin catalytic domain

IPR002884 P domain

IPR032815 Peptidase S8, pro-domain

IPR038466 Peptidase S8, pro-domain superfamily

IPR000209 Peptidase S8/S53 domain

IPR036852 Peptidase S8/S53 domain superfamily

IPR023827 Peptidase S8, subtilisin, Asp-active site

IPR022398 Peptidase S8, subtilisin, His-active site

IPR015500 Peptidase S8, subtilisin-related

IPR023828 Peptidase S8, subtilisin, Ser-active site
GlyGen

P23188 2 sites

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All nucleic 106

Genomic 1

cDNA 99

Primer pair 3

Other 3

Microarray probesets 3

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MGD-MRK-13193, MGD-MRK-9893, MGI:1925399

Summaries

All 135

Developmental Gene Expression 22

Gene Ontology 20

Phenotypes 51
Earliest

J:23406 Hatsuzawa K, et al., Structure and expression of mouse furin, a yeast Kex2-related protease. Lack of processing of coexpressed prorenin in GH4C1 cells. J Biol Chem. 1990 Dec 25;265(36):22075-8
Latest

J:355548 Xie S, et al., Cerebral furin deficiency causes hydrocephalus in mice. Genes Dis. 2024 May;11(3):101009

TSS for Furin:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr73260	Chr7:80056087-80056101 (-)	-906 bp
Tssr73259	Chr7:80056058-80056069 (-)	-876 bp
Tssr73258	Chr7:80055173-80055181 (-)	11 bp
Tssr73257	Chr7:80053804-80053812 (-)	1,380 bp
Tssr73256	Chr7:80053777-80053789 (-)	1,405 bp
Tssr73255	Chr7:80053118-80053126 (-)	2,066 bp
Tssr73254	Chr7:80053063-80053087 (-)	2,113 bp
Tssr73253	Chr7:80053052-80053057 (-)	2,133 bp
Tssr73252	Chr7:80052518-80052571 (-)	2,643 bp
Tssr73251	Chr7:80052491-80052505 (-)	2,690 bp
Tssr73250	Chr7:80052456-80052479 (-)	2,720 bp
Tssr73249	Chr7:80051978-80052010 (-)	3,194 bp
Tssr73248	Chr7:80051497-80051502 (-)	3,688 bp
Tssr73247	Chr7:80051238-80051255 (-)	3,941 bp
Tssr73246	Chr7:80051209-80051221 (-)	3,973 bp
Tssr73245	Chr7:80048621-80048646 (-)	6,554 bp
Tssr73244	Chr7:80048515-80048539 (-)	6,661 bp
Tssr73243	Chr7:80046709-80046726 (-)	8,470 bp
Tssr73242	Chr7:80041310-80041324 (-)	13,871 bp
Tssr73241	Chr7:80040971-80040991 (-)	14,207 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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