ENSG00000115380


Homo sapiens

Features
Gene ID: ENSG00000115380
  
Biological name :EFEMP1
  
Synonyms : EFEMP1 / EGF containing fibulin extracellular matrix protein 1 / Q12805
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: p16.1
Gene start: 55865967
Gene end: 55924139
  
Corresponding Affymetrix probe sets: 201842_s_at (Human Genome U133 Plus 2.0 Array)   201843_s_at (Human Genome U133 Plus 2.0 Array)   228421_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000347596
Ensembl peptide - ENSP00000489578
Ensembl peptide - ENSP00000489183
Ensembl peptide - ENSP00000408195
Ensembl peptide - ENSP00000405686
Ensembl peptide - ENSP00000399480
Ensembl peptide - ENSP00000398387
Ensembl peptide - ENSP00000398345
Ensembl peptide - ENSP00000392055
Ensembl peptide - ENSP00000389319
Ensembl peptide - ENSP00000378058
NCBI entrez gene - 2202     See in Manteia.
OMIM - 601548
RefSeq - XM_017003586
RefSeq - NM_001039348
RefSeq - NM_001039349
RefSeq - XM_005264205
RefSeq Peptide - NP_001034437
RefSeq Peptide - NP_001034438
swissprot - A0A0U1RQV3
swissprot - A0A0S2Z4F1
swissprot - C9JQX7
swissprot - Q580Q6
swissprot - C9JUM4
swissprot - Q12805
swissprot - C9JPZ9
swissprot - C9J8S9
swissprot - C9J4H7
swissprot - C9J4J8
swissprot - A0A0U1RRL0
Ensembl - ENSG00000115380
  
Related genetic diseases (OMIM): 126600 - Doyne honeycomb degeneration of retina, 126600
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
 CU570800.1ENSDARG00000059121Danio rerio
 si:ch73-173h19.3ENSDARG00000104210Danio rerio
 EFEMP1ENSGALG00000037901Gallus gallus
 Efemp1ENSMUSG00000020467Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
EFEMP2 / O95967 / EGF containing fibulin extracellular matrix protein 2ENSG0000017263849
FBLN5 / Q9UBX5 / fibulin 5ENSG0000014009241
FBLN1 / P23142 / fibulin 1ENSG0000007794230
FBLN2 / P98095 / fibulin 2ENSG0000016352029
FBN2 / P35556 / fibrillin 2ENSG0000013882924
FBN1 / P35555 / fibrillin 1ENSG0000016614724
LTBP4 / Q8N2S1 / latent transforming growth factor beta binding protein 4ENSG0000009000623
FBN3 / Q75N90 / fibrillin 3ENSG0000014244923
LTBP2 / Q14767 / latent transforming growth factor beta binding protein 2ENSG0000011968123
LTBP1 / Q14766 / latent transforming growth factor beta binding protein 1ENSG0000004932322
LTBP3 / Q9NS15 / latent transforming growth factor beta binding protein 3ENSG0000016805617


Protein motifs (from Interpro)
Interpro ID Name
 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
 IPR018097  EGF-like calcium-binding, conserved site
 IPR026823  Complement Clr-like EGF domain
 IPR032973  EGF-containing fibulin-like extracellular matrix protein 1
 IPR037287  Fibulin 3/4/5


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006355 regulation of transcription, DNA-templated IDA
 biological_processGO:0007173 epidermal growth factor receptor signaling pathway IEA
 biological_processGO:0007601 visual perception TAS
 biological_processGO:0010469 regulation of signaling receptor activity IEA
 biological_processGO:0018108 peptidyl-tyrosine phosphorylation IDA
 biological_processGO:0032331 negative regulation of chondrocyte differentiation IDA
 biological_processGO:0043010 camera-type eye development IEP
 biological_processGO:0048048 embryonic eye morphogenesis IEP
 biological_processGO:0048050 post-embryonic eye morphogenesis IEP
 cellular_componentGO:0005576 extracellular region IDA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0031012 extracellular matrix IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005006 epidermal growth factor-activated receptor activity IEA
 molecular_functionGO:0005154 epidermal growth factor receptor binding IDA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008083 growth factor activity IEA


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]
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 HP:0000505 Impaired vision 
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 HP:0000556 Retinal dystrophy 
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 HP:0007937 Honeycomb retinal degeneration 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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