Fbln1 MGI Mouse Gene Detail - MGI:95487

Symbol

Fbln1
Name

fibulin 1

Feature Type

protein coding gene
IDs

MGI:95487
NCBI Gene: 14114
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr15:85090150-85170495 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 15, 40.27 cM, cytoband E-F
Mapping Data

2 experiments

SNPs within 2kb

804 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_95487	protein coding gene	Chr15:85090150-85170736 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0022190	protein coding gene	Chr15:86045066-86131537 (+)
A/J	MGP_AJ_G0022149	protein coding gene	Chr15:82845897-82932150 (+)
AKR/J	MGP_AKRJ_G0022124	protein coding gene	Chr15:85302045-85386004 (+)
BALB/cJ	MGP_BALBcJ_G0022155	protein coding gene	Chr15:82980870-83067207 (+)
C3H/HeJ	MGP_C3HHeJ_G0021925	protein coding gene	Chr15:85231579-85320092 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0022600	protein coding gene	Chr15:89294887-89388882 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0020125	protein coding gene	Chr15:79195911-79276576 (+)
CAST/EiJ	MGP_CASTEiJ_G0021447	protein coding gene	Chr15:86029294-86119576 (+)
CBA/J	MGP_CBAJ_G0021892	protein coding gene	Chr15:92215527-92313971 (+)
DBA/2J	MGP_DBA2J_G0022019	protein coding gene	Chr15:82327742-82409713 (+)
FVB/NJ	MGP_FVBNJ_G0021998	protein coding gene	Chr15:81392931-81478732 (+)
LP/J	MGP_LPJ_G0022090	protein coding gene	Chr15:86219125-86309510 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0022018	protein coding gene	Chr15:96970025-97059785 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0022615	protein coding gene	Chr15:85292843-85381831 (+)
PWK/PhJ	MGP_PWKPhJ_G0021188	protein coding gene	Chr15:82331341-82414018 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0021022	protein coding gene	Chr15:84997694-85083669 (+)
WSB/EiJ	MGP_WSBEiJ_G0021496	protein coding gene	Chr15:85786921-85877999 (+)

Human Ortholog

FBLN1, fibulin 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

FBLN1, fibulin 1
Synonyms

FBLN, FIBL1
Links

HGNC:3600

NCBI Gene ID: 2192

neXtProt AC: NX_P23142

UniProt: P23142
Chr Location

22q13.31; chr22:45502238-45601135 (+) GRCh38

MGI Vertebrate Homology

Fbln1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: FBLN1
Protein SuperFamily

Fibulin-1
Gene Tree

Fbln1

less

References

1 with disease annotations

less

Phenotype Summary

60 phenotypes from 2 alleles in 4 genetic backgrounds
2 phenotypes from multigenic genotypes
36 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

27
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

20
Radiation induced

2
Targeted

2
Genomic Mutations

3 involving Fbln1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

30 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for disruption of this gene develop problems with spontaneous bleeding as embryos. Most die within the first two days of life. Those that survive this period develop normally and eventually recover from their early developmental abnormalities.

less

All GO Annotations

44
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	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

less

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

1021
Tissues

147
cDNA Data

108
Literature Summary

31

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA FBLN1

Xenbase fbln1

ZFIN fbln1

less

All Sequences

59
RefSeq

4
UniProt

4
CCDS

CCDS27719.1, CCDS84186.1

Ensembl

ENSMUSG00000006369 (Evidence)
NCBI Gene

14114

			Length	Strain/Species	Flank
genomic	14114	NCBI Gene Model \| MGI Sequence Detail	80346	C57BL/6J	± kb
transcript	NM_010180	RefSeq \| MGI Sequence Detail	3359	C57BL/6
polypeptide	Q08879	UniProt \| EBI \| MGI Sequence Detail	705	Not Applicable

less

UniProt

4 Sequences
Protein Ontology

PR:000007358 fibulin-1

(term hierarchy)
InterPro Domains

IPR000020 Anaphylatoxin/fibulin

IPR026823 Complement Clr-like EGF domain

IPR018097 EGF-like calcium-binding, conserved site

IPR001881 EGF-like calcium-binding domain

IPR000742 EGF-like domain

IPR000152 EGF-type aspartate/asparagine hydroxylation site

IPR017048 Fibulin-1

IPR009030 Growth factor receptor cysteine-rich domain superfamily

less

All nucleic 118

cDNA 111

Primer pair 5

Other 2

Microarray probesets 7

less

MGD-MRK-9715

Summaries

All 90

Developmental Gene Expression 31

Diseases 1

Gene Ontology 7

Phenotypes 36
Earliest

J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
Latest

J:343286 Queen R, et al., Spatial transcriptomics reveals novel genes during the remodelling of the embryonic human arterial valves. PLoS Genet. 2023 Nov;19(11):e1010777

TSS for Fbln1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr132498	Chr15:85090223-85090246 (+)	85 bp
Tssr132499	Chr15:85090247-85090273 (+)	110 bp
Tssr132500	Chr15:85113060-85113074 (+)	22,917 bp
Tssr132501	Chr15:85115679-85115697 (+)	25,538 bp
Tssr132502	Chr15:85116755-85116781 (+)	26,618 bp
Tssr132503	Chr15:85122701-85122730 (+)	32,566 bp
Tssr132504	Chr15:85123520-85123531 (+)	33,376 bp
Tssr132505	Chr15:85126235-85126250 (+)	36,093 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/16/2024 MGI 6.23