Fbn1 (fibrillin 1) - Rat Genome Database

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Gene: Fbn1 (fibrillin 1) Chinchilla lanigera
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Symbol: Fbn1
Name: fibrillin 1
RGD ID: 8965993
Description: ENCODES a protein that exhibits calcium ion binding (ortholog); extracellular matrix structural constituent (ortholog); heparin binding (ortholog); INVOLVED IN activation of protein kinase A activity (ortholog); camera-type eye development (ortholog); cell adhesion mediated by integrin (ortholog); ASSOCIATED WITH achondroplasia (ortholog); acromicric dysplasia (ortholog); Albuminuria (ortholog); FOUND IN basement membrane (ortholog); collagen-containing extracellular matrix (ortholog); extracellular matrix (ortholog)
Type: protein-coding
RefSeq Status: MODEL
Previously known as: fibrillin-1
RGD Orthologs
Human
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: ChiLan1.0 - Chinchilla ChiLan1.0 Assembly
NCBI Annotation Information: Annotation category: partial on reference assembly
Position:
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554095,281,603 - 5,504,761 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554095,281,603 - 5,502,547 (+)NCBIChiLan1.0ChiLan1.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
achondroplasia  (ISO)
acromicric dysplasia  (ISO)
Albuminuria  (ISO)
Alstrom syndrome  (ISO)
Aneurysm  (ISO)
aortic aneurysm  (ISO)
aortic disease  (ISO)
aortic dissection  (ISO)
Aortic Rupture  (ISO)
aortic valve insufficiency  (ISO)
Arachnodactyly  (ISO)
arthrogryposis, renal dysfunction, and cholestasis 1  (ISO)
autosomal dominant isolated ectopia lentis 1  (ISO)
Beaulieu-Boycott-Innes Syndrome  (ISO)
Bloom syndrome  (ISO)
Brugada syndrome 1  (ISO)
Cardiac Fibrosis  (ISO)
cataract  (ISO)
cerebral infarction  (ISO)
colorectal cancer  (ISO)
congenital diaphragmatic hernia  (ISO)
connective tissue disease  (ISO)
craniosynostosis  (ISO)
Craniosynostosis Syndrome, Autosomal Recessive  (ISO)
CREST syndrome  (ISO)
Diabetic Nephropathies  (ISO)
Disproportionate Tall Stature  (ISO)
Dwarfism  (ISO)
Ectopia Lentis  (ISO)
Emphysema  (ISO)
endometriosis  (ISO)
Experimental Diabetes Mellitus  (ISO)
Experimental Liver Cirrhosis  (ISO)
Familial Thoracic Aortic Aneurysm 1  (ISO)
Familial Thoracic Aortic Aneurysm 2  (ISO)
Familial Thoracic Aortic Aneurysm 6  (ISO)
Flatfoot  (ISO)
Funnel Chest  (ISO)
geleophysic dysplasia  (ISO)
geleophysic dysplasia 2  (ISO)
genetic disease  (ISO)
glomerulonephritis  (ISO)
glomerulosclerosis  (ISO)
heart disease  (ISO)
High Myopia  (ISO)
Hirschsprung Disease 1  (ISO)
Hirschsprung's disease  (ISO)
hydronephrosis  (ISO)
hyperglycemia  (ISO)
hyperinsulinism  (ISO)
hypertension  (ISO)
Joint Instability  (ISO)
lens subluxation  (ISO)
liver cirrhosis  (ISO)
Liver Injury  (ISO)
Loeys-Dietz syndrome  (ISO)
Loeys-Dietz syndrome 2  (ISO)
Marfan Lipodystrophy Syndrome  (ISO)
Marfan syndrome  (ISO)
Marfan Syndrome, Autosomal Recessive  (ISO)
Marfanoid Hypermobility Syndrome  (ISO)
MASS Syndrome  (ISO)
melanoma  (ISO)
mesangial proliferative glomerulonephritis  (ISO)
Metaphyseal Chondrodysplasia  (ISO)
mitral valve insufficiency  (ISO)
mitral valve prolapse  (ISO)
mixed connective tissue disease  (ISO)
myopia  (ISO)
osteomalacia  (ISO)
osteoporosis  (ISO)
Pectus Carinatum  (ISO)
Perrault Syndrome 1  (ISO)
Polycystic Liver Disease 1  (ISO)
scoliosis  (ISO)
stiff skin syndrome  (ISO)
Striae Distensae  (ISO)
Stroke  (ISO)
systemic scleroderma  (ISO)
thoracic aortic aneurysm  (ISO)
type 2 diabetes mellitus  (ISO)
ureteral obstruction  (ISO)
Weill-Marchesani syndrome  (ISO)
Weill-Marchesani Syndrome 2  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. Transitive Annotation Pipeline Automated assignment of GO, PW and RDO ISS annotations to Chinchilla, Squirrel, Bonobo and/or Dog genes from Human gene annotations
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline

Genomics

Comparative Map Data
Fbn1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554095,281,603 - 5,504,761 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554095,281,603 - 5,502,547 (+)NCBIChiLan1.0ChiLan1.0
FBN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381548,408,313 - 48,645,709 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1548,408,313 - 48,645,721 (-)EnsemblGRCh38hg38GRCh38
GRCh371548,700,510 - 48,937,906 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361546,487,797 - 46,725,210 (-)NCBINCBI36hg18NCBI36
Build 341546,489,478 - 46,724,391NCBI
Celera1525,592,970 - 25,831,601 (-)NCBI
Cytogenetic Map15q21.1NCBI
HuRef1525,532,899 - 25,770,042 (-)NCBIHuRef
CHM1_11548,818,485 - 49,055,993 (-)NCBICHM1_1
T2T-CHM13v2.01546,216,487 - 46,453,900 (-)NCBI
Fbn1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392125,142,514 - 125,348,417 (-)NCBIGRCm39mm39
GRCm39 Ensembl2125,142,514 - 125,349,913 (-)Ensembl
GRCm382125,300,594 - 125,506,485 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2125,300,594 - 125,507,993 (-)EnsemblGRCm38mm10GRCm38
MGSCv372125,126,330 - 125,332,174 (-)NCBIGRCm37mm9NCBIm37
MGSCv362124,992,037 - 125,197,826 (-)NCBImm8
Celera2126,545,438 - 126,751,399 (-)NCBICelera
Cytogenetic Map2F1NCBI
cM Map261.38NCBI
Fbn1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.23112,554,257 - 112,750,835 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl3112,554,925 - 112,750,889 (-)Ensembl
Rnor_6.03117,569,708 - 117,766,160 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3117,569,697 - 117,766,120 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03124,094,458 - 124,290,346 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43112,608,480 - 112,804,118 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.13112,514,052 - 112,709,691 (-)NCBI
Celera3111,411,207 - 111,605,886 (-)NCBICelera
Cytogenetic Map3q36NCBI
FBN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11545,680,688 - 45,918,111 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1545,682,450 - 45,918,111 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01527,358,780 - 27,593,539 (-)NCBIMhudiblu_PPA_v0panPan3
FBN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13014,640,973 - 14,864,151 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3014,640,973 - 14,864,151 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3014,562,604 - 14,785,910 (-)NCBI
ROS_Cfam_1.03014,774,842 - 14,998,080 (-)NCBI
ROS_Cfam_1.0 Ensembl3014,774,842 - 14,998,080 (-)Ensembl
UMICH_Zoey_3.13014,697,727 - 14,920,887 (-)NCBI
UNSW_CanFamBas_1.03014,812,844 - 15,036,221 (-)NCBI
UU_Cfam_GSD_1.03014,925,119 - 15,148,304 (-)NCBI
Fbn1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864092,898,887 - 93,121,188 (-)NCBI
SpeTri2.0NW_00493647110,747,030 - 10,969,223 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FBN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1123,102,009 - 123,359,649 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11123,102,011 - 123,359,649 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21137,103,509 - 137,303,481 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FBN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12634,637,916 - 34,877,499 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2634,638,838 - 34,879,217 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666048106,249,703 - 106,490,285 (-)NCBIVero_WHO_p1.0
Fbn1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473111,086,844 - 11,318,102 (+)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_00462473111,086,240 - 11,318,111 (+)NCBIHetGla_female_1.0hetGla2


Expression


Sequence


Reference Sequences
RefSeq Acc Id: ENSCLAT00000021703   ⟹   ENSCLAP00000021500
RefSeq Status:
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0 EnsemblNW_0049554095,281,603 - 5,504,761 (+)Ensembl
RefSeq Acc Id: ENSCLAT00000021704   ⟹   ENSCLAP00000021501
RefSeq Status:
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0 EnsemblNW_0049554095,281,603 - 5,504,761 (+)Ensembl
RefSeq Acc Id: XM_005376698   ⟹   XP_005376755
RefSeq Status:
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0NW_0049554095,281,603 - 5,502,547 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs XP_005376755 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: XP_005376755   ⟸   XM_005376698
- Sequence:
RefSeq Acc Id: ENSCLAP00000021500   ⟸   ENSCLAT00000021703
RefSeq Acc Id: ENSCLAP00000021501   ⟸   ENSCLAT00000021704
Protein Domains
EGF-like   TB


Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSCLAG00000014723 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Protein ENSCLAP00000021500 ENTREZGENE
  ENSCLAP00000021500.1 UniProtKB/TrEMBL
  ENSCLAP00000021501.1 UniProtKB/TrEMBL
Ensembl Transcript ENSCLAT00000021703 ENTREZGENE
  ENSCLAT00000021703.1 UniProtKB/TrEMBL
  ENSCLAT00000021704.1 UniProtKB/TrEMBL
Gene3D-CATH 3.90.290.10 UniProtKB/TrEMBL
InterPro cEGF UniProtKB/TrEMBL
  EGF-like_Ca-bd_dom UniProtKB/TrEMBL
  EGF-like_dom UniProtKB/TrEMBL
  EGF-type_Asp/Asn_hydroxyl_site UniProtKB/TrEMBL
  EGF_Ca-bd_CS UniProtKB/TrEMBL
  EGF_dom UniProtKB/TrEMBL
  FBN UniProtKB/TrEMBL
  Fibrillin_U_N UniProtKB/TrEMBL
  Growth_fac_rcpt_cys_sf UniProtKB/TrEMBL
  TB_dom UniProtKB/TrEMBL
  TB_dom_sf UniProtKB/TrEMBL
NCBI Gene Fbn1 ENTREZGENE
PANTHER PTHR24039:SF22 UniProtKB/TrEMBL
Pfam cEGF UniProtKB/TrEMBL
  EGF_3 UniProtKB/TrEMBL
  EGF_CA UniProtKB/TrEMBL
  Fibrillin_U_N UniProtKB/TrEMBL
  PF00683 UniProtKB/TrEMBL
PROSITE ASX_HYDROXYL UniProtKB/TrEMBL
  EGF_1 UniProtKB/TrEMBL
  EGF_2 UniProtKB/TrEMBL
  EGF_3 UniProtKB/TrEMBL
  EGF_CA UniProtKB/TrEMBL
  PS51364 UniProtKB/TrEMBL
SMART EGF UniProtKB/TrEMBL
  EGF_CA UniProtKB/TrEMBL
Superfamily-SCOP SSF57184 UniProtKB/TrEMBL
  SSF57581 UniProtKB/TrEMBL
UniProt A0A8C2VYA6_CHILA UniProtKB/TrEMBL