InnateDB Protein
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IDBP-74052.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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EFNB1
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Protein Name
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ephrin-B1
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Synonyms
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CFND; CFNS; EFB1; EFL3; Elk-L; EPLG2; LERK2;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000204961
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InnateDB Gene
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IDBG-74050 (EFNB1)
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Protein Structure
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Function |
Binds to the receptor tyrosine kinases EPHB1 and EPHA1. Binds to, and induce the collapse of, commissural axons/growth cones in vitro. May play a role in constraining the orientation of longitudinally projecting axons (By similarity). {ECO:0000250}.Cell surface transmembrane ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Binds to the receptor tyrosine kinases EPHB3 (preferred), EPHB1 and EPHA1. Binds to, and induce the collapse of, commissural axons/growth cones in vitro. May play a role in constraining the orientation of longitudinally projecting axons (By similarity). {ECO:0000250}.
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Subcellular Localization |
Membrane; Single-pass type I membrane protein.
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Disease Associations |
Craniofrontonasal syndrome (CFNS) [MIM:304110]: X-linked inherited syndrome characterized by hypertelorism, coronal synostosis with brachycephaly, downslanting palpebral fissures, clefting of the nasal tip, joint anomalies, longitudinally grooved fingernails and other digital anomalies. {ECO:0000269PubMed:15124102, ECO:0000269PubMed:15166289, ECO:0000269PubMed:15959873}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Heart, placenta, lung, liver, skeletal muscle, kidney, pancreas.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
Experimentally validated |
Total |
25
[view]
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Protein-Protein |
25
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
7 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001799
Ephrin
IPR008972
Cupredoxin
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PFAM |
PF00812
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PRINTS |
PR01347
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P98172
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PhosphoSite |
PhosphoSite-P98172
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
1947
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UniGene |
Hs.624936
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RefSeq |
NP_004420
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HUGO |
HGNC:3226
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OMIM |
300035
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CCDS |
CCDS14391
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HPRD |
02072
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IMGT |
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EMBL |
AL136092
BC016649
BC052979
CH471132
L37361
U09303
U09304
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GenPept |
AAA52369
AAA53093
AAB41127
AAH16649
AAH52979
CAB86409
EAX05370
EAX05371
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