FBN1 fibrillin 1 [Canis lupus familiaris (dog)] - Gene

Summary

Official Symbol: FBN1provided by VGNC
Official Full Name: fibrillin 1provided by VGNC
Primary source: VGNC:VGNC:40754
See related: Ensembl:ENSCAFG00845020514
Gene type: protein coding
RefSeq status: INFERRED
Organism: Canis lupus familiaris (sub-species: familiaris)
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis
Orthologs: human mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: chromosome: 30

Exon count:: 65

Annotation release	Status	Assembly	Chr	Location
106	current	ROS_Cfam_1.0 (GCF_014441545.1)	30	NC_051834.1 (14774842..14998080, complement)
106	current	Dog10K_Boxer_Tasha (GCF_000002285.5)	30	NC_006612.4 (14562604..14785910, complement)
106	current	UU_Cfam_GSD_1.0 (GCF_011100685.1)	30	NC_049251.1 (14925119..15148304, complement)
106	current	UMICH_Zoey_3.1 (GCF_005444595.1)	30	NC_049290.1 (14697727..14920887, complement)
106	current	UNSW_CanFamBas_1.0 (GCF_013276365.1)	30	NC_049771.1 (14812844..15036221, complement)

Chromosome 30 - NC_051834.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

identified SNPs in key genes involved in ligament strength, stability and extracellular matrix formation (COL5A1, COL5A2, COL1A1, COL3A1, COL11A1, COL24A1, FBN1, LOX, LTBP2) which were significantly associated with CCLR susceptibility
Title: Genetic basis of cranial cruciate ligament rupture (CCLR) in dogs.

Submit: New GeneRIF Correction

General gene information

Go to the top of the page Help

Markers

MARC_10113-10114:1001521257:1 (e-PCR)
- UniSTS:267044

FBN1 (e-PCR)
- UniSTS:263468

G63901 (e-PCR)
- UniSTS:146483

G64965 (e-PCR)
- UniSTS:164951

BAC_382-A4 (e-PCR)
- UniSTS:262622

Gene Ontology Provided by RefSeq

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: fibrillin-1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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)

NM_001287085.2 → NP_001274014.2 fibrillin-1 precursor

Status: INFERRED

Source sequence(s)

JAAUVH010000365

UniProtKB/TrEMBL

A0A8C0T3H1, A0A8I3PI20

Related

ENSCAFP00845028329.1, ENSCAFT00845036205.1

Conserved Domains (9) summary

smart00179
Location:1808 → 1840

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:1973 → 2008

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 ...

pfam07645
Location:1930 → 1971

EGF_CA; Calcium-binding EGF domain

pfam00683
Location:1549 → 1590

TB; TB domain

pfam12662
Location:2465 → 2488

cEGF; Complement Clr-like EGF-like

pfam12947
Location:1367 → 1402

EGF_3; EGF domain

pfam18193
Location:48 → 82

Fibrillin_U_N; Fibrillin 1 unique N-terminal domain

cl00057
Location:1194 → 1235

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

cl21504
Location:2013 → 2053

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 ...