ENSG00000077942


Homo sapiens

Features
Gene ID: ENSG00000077942
  
Biological name :FBLN1
  
Synonyms : FBLN1 / fibulin 1 / P23142
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 22
Strand: 1
Band: q13.31
Gene start: 45502238
Gene end: 45601135
  
Corresponding Affymetrix probe sets: 201787_at (Human Genome U133 Plus 2.0 Array)   202994_s_at (Human Genome U133 Plus 2.0 Array)   202995_s_at (Human Genome U133 Plus 2.0 Array)   207834_at (Human Genome U133 Plus 2.0 Array)   207835_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000385521
Ensembl peptide - ENSP00000393812
Ensembl peptide - ENSP00000489422
Ensembl peptide - ENSP00000415289
Ensembl peptide - ENSP00000415160
Ensembl peptide - ENSP00000414584
Ensembl peptide - ENSP00000404024
Ensembl peptide - ENSP00000402963
Ensembl peptide - ENSP00000401077
Ensembl peptide - ENSP00000395329
Ensembl peptide - ENSP00000262722
Ensembl peptide - ENSP00000331544
Ensembl peptide - ENSP00000342212
NCBI entrez gene - 2192     See in Manteia.
OMIM - 135820
RefSeq - NM_006485
RefSeq - NM_006486
RefSeq - NM_006487
RefSeq - NM_001996
RefSeq Peptide - NP_006476
RefSeq Peptide - NP_006477
RefSeq Peptide - NP_006478
RefSeq Peptide - NP_001987
swissprot - H7C1M6
swissprot - B1AHN3
swissprot - P23142
swissprot - B1AHM9
swissprot - B1AHM8
swissprot - B1AHM7
swissprot - B1AHM6
swissprot - B1AHM5
swissprot - B1AHL2
swissprot - A0A0U1RRA4
Ensembl - ENSG00000077942
  
Related genetic diseases (OMIM): 608180 - Synpolydactyly, 3/34, associated with metacarpal and metatarsal synostoses, 608180
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 FBLN1ENSDARG00000103311Danio rerio
 FBLN1ENSGALG00000014233Gallus gallus
 Fbln1ENSMUSG00000006369Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
FBLN2 / P98095 / fibulin 2ENSG0000016352044
FBN1 / P35555 / fibrillin 1ENSG0000016614728
FBN3 / Q75N90 / fibrillin 3ENSG0000014244928
FBN2 / P35556 / fibrillin 2ENSG0000013882928
LTBP1 / Q14766 / latent transforming growth factor beta binding protein 1ENSG0000004932326
LTBP2 / Q14767 / latent transforming growth factor beta binding protein 2ENSG0000011968126
LTBP4 / Q8N2S1 / latent transforming growth factor beta binding protein 4ENSG0000009000626
LTBP3 / Q9NS15 / latent transforming growth factor beta binding protein 3ENSG0000016805624
FBLN5 / Q9UBX5 / fibulin 5ENSG0000014009222
EFEMP2 / O95967 / EGF containing fibulin extracellular matrix protein 2ENSG0000017263822
EFEMP1 / Q12805 / EGF containing fibulin extracellular matrix protein 1ENSG0000011538021


Protein motifs (from Interpro)
Interpro ID Name
 IPR000020  Anaphylatoxin/fibulin
 IPR000152  EGF-type aspartate/asparagine hydroxylation site
 IPR000742  EGF-like domain
 IPR001881  EGF-like calcium-binding domain
 IPR009030  Growth factor receptor cysteine-rich domain superfamily
 IPR013032  EGF-like, conserved site
 IPR017048  Fibulin-1
 IPR018097  EGF-like calcium-binding, conserved site
 IPR026823  Complement Clr-like EGF domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001933 negative regulation of protein phosphorylation IDA
 biological_processGO:0007162 negative regulation of cell adhesion IDA
 biological_processGO:0007566 embryo implantation IEA
 biological_processGO:0010952 positive regulation of peptidase activity IEA
 biological_processGO:0016032 viral process IEA
 biological_processGO:0030198 extracellular matrix organization IEA
 biological_processGO:0070373 negative regulation of ERK1 and ERK2 cascade IDA
 biological_processGO:0072378 blood coagulation, fibrin clot formation IDA
 biological_processGO:1900025 negative regulation of substrate adhesion-dependent cell spreading IDA
 biological_processGO:2000146 negative regulation of cell motility IDA
 biological_processGO:2000647 negative regulation of stem cell proliferation IDA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005577 fibrinogen complex IDA
 cellular_componentGO:0005604 basement membrane IEA
 cellular_componentGO:0005615 extracellular space IDA
 cellular_componentGO:0031012 extracellular matrix IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0071953 elastic fiber IDA
 molecular_functionGO:0001968 fibronectin binding IPI
 molecular_functionGO:0005201 extracellular matrix structural constituent IDA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0008022 protein C-terminus binding IPI
 molecular_functionGO:0016504 peptidase activator activity IEA
 molecular_functionGO:0042802 identical protein binding IDA
 molecular_functionGO:0044877 protein-containing complex binding IPI
 molecular_functionGO:0070051 fibrinogen binding IPI


Pathways (from Reactome)
Pathway description
Molecules associated with elastic fibres


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
Show

 HP:0001440 Synostosis involving metatarsal bones 
Show

 HP:0001770 Toe syndactyly "Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators]
Show

 HP:0008368 Synostosis involving tarsal bones 
Show

 HP:0009701 Synostosis involving the metacarpal bones "Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx)." [HPO:curators]
Show

 HP:0009702 Synostosis involving the carpal bones 
Show

 HP:0010442 Polydactyly 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000115414 FN1 / P02751 / fibronectin 1  / complex / reaction






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr