Gene

fbn1

ID

ZDB-GENE-091204-466

Name

fibrillin 1

Symbol

fbn1 Nomenclature History

Previous Names

si:ch73-34a12.4

Type

protein_coding_gene

Location

Chr: 18 Mapping Details/Browsers

Description

Human ortholog(s) of this gene implicated in several diseases, including CREST syndrome; Weill-Marchesani syndrome; aortic disease (multiple); autosomal dominant isolated ectopia lentis 1; and bone disease (multiple). Orthologous to human FBN1 (fibrillin 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Quint et al., 2022

Cross-Species Comparison

Alliance

High Throughput Data

Expression Atlas

Single Cell Expression Atlas

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 2 figures from 2 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With fbn1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
acromicric dysplasia	Alliance	Acromicric dysplasia	102370
autosomal dominant isolated ectopia lentis 1	Alliance	Ectopia lentis, familial	129600
geleophysic dysplasia 2	Alliance	Geleophysic dysplasia 2	614185
Marfan syndrome	Alliance	Marfan syndrome	154700
stiff skin syndrome	Alliance	Stiff skin syndrome	184900
Weill-Marchesani syndrome	Alliance	Weill-Marchesani syndrome 2, dominant	608328
		Marfan lipodystrophy syndrome	616914
		MASS syndrome	604308

Associated With fbn1 Via Experimental Models

Human Disease	Fish	Conditions	Citations
refractive error	fbn1^re12/re12	standard conditions	Quint et al., 2022

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR013032	EGF-like, conserved site
Conserved_site	IPR018097	EGF-like calcium-binding, conserved site
Domain	IPR000742	EGF-like domain
Domain	IPR001881	EGF-like calcium-binding domain
Domain	IPR017878	TB domain
Domain	IPR024731	EGF domain
Domain	IPR026823	Complement Clr-like EGF domain
Domain	IPR040872	Fibrillin 1, unique N-terminal domain
Domain	IPR049388	Fibrillin, first EGF domain
Domain	IPR049883	NOTCH1 EGF-like calcium-binding domain
Family	IPR052080	von Willebrand factor C/EGF & Fibrillin
Homologous_superfamily	IPR009030	Growth factor receptor cysteine-rich domain superfamily
Homologous_superfamily	IPR036773	TGF-beta binding (TB) domain superfamily
PTM	IPR000152	EGF-type aspartate/asparagine hydroxylation site

Domain Details Per Protein

Protein	Length	Complement Clr-like EGF domain	EGF domain	EGF-like calcium-binding, conserved site	EGF-like calcium-binding domain	EGF-like, conserved site	EGF-like domain	EGF-type aspartate/asparagine hydroxylation site	Fibrillin 1, unique N-terminal domain	Fibrillin, first EGF domain	Growth factor receptor cysteine-rich domain superfamily	NOTCH1 EGF-like calcium-binding domain	TB domain	TGF-beta binding (TB) domain superfamily	von Willebrand factor C/EGF & Fibrillin
UniProtKB:A0A8M6YW17 InterPro	2768

Transcripts

Genome Browsers

NCBI

No data available

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance

Citations