RBCC Red Blood Cell Collection

EFNB1_HUMAN

Source: BSc_CH
Marked as 'Integral membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: EFNB1 , EFL3, EPLG2, LERK2
Protein names and data: EFNB1_HUMAN , Ephrin-B1 , EFL-3; ELK ligand; ELK-L; EPH-related receptor tyrosine kinase ligand 2; LERK-2; Flags: Precursor Lenght: 346 a.a.
Mass: 38007 Da
fasta formatted sequence
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). 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).
Disease: ( OMIM: 300035 304110 ) 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Membrane; Single-pass type I membrane protein.
Tissue specificity: Heart, placenta, lung, liver, skeletal muscle, kidney, pancreas.

Genetic variants

27 - 27 P -> R (in CFNS). VAR_023127
54 - 54 P -> L (in CFNS). VAR_023128
62 - 62 I -> T (in CFNS). VAR_023129
98 - 98 L -> S (in CFNS). VAR_023130
111 - 111 T -> I (in CFNS). VAR_023131
115 - 115 Q -> P (in CFNS). VAR_023132
119 - 119 P -> H (in CFNS). VAR_023133
119 - 119 P -> S (in CFNS). VAR_023134
119 - 119 P -> T (in CFNS). VAR_023135
137 - 137 T -> A (in CFNS). VAR_023136
138 - 138 S -> F (in CFNS). VAR_023137
151 - 151 G -> S (in CFNS; dbSNP:rs28936069). VAR_023138 28936069
151 - 151 G -> V (in CFNS; dbSNP:rs28936070). VAR_023139 28936070
153 - 153 C -> S (in CFNS). VAR_023140
153 - 153 C -> Y (in CFNS). VAR_023141
154 - 154 R -> H. VAR_023142
155 - 155 T -> P (in CFNS). VAR_023143
158 - 158 M -> I (in CFNS; dbSNP:rs28935170). VAR_023144 28935170
158 - 158 M -> V (in CFNS; dbSNP:rs28936071). VAR_023145 28936071
172 - 172 T -> M (in dbSNP:rs7889678). VAR_059256 7889678
182 - 182 S -> R (in CFNS). VAR_023146
189 - 189 V -> A (in dbSNP:rs16989105). VAR_023147 16989105

Database cross-references

UniProt: P98172
Ensembl: ENST00000204961
MIM: 300035
MIM: 304110
neXtProt: NX_P98172
Antibodypedia: P98172 (may not find the protein thus also not any antibody)
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