Gene: EFNB1

Basic information

Tag Content
Uniprot ID P98172; D3DVU0;
Entrez ID 1947
Genbank protein ID AAB41127.1; AAA52369.1; AAH52979.1; AAA53093.1; EAX05371.1; AAH16649.1; EAX05370.1;
Genbank nucleotide ID NM_004429.4
Ensembl protein ID ENSP00000204961
Ensembl nucleotide ID ENSG00000090776
Gene name Ephrin-B1
Gene symbol EFNB1
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type CPO,CL/P
Developmental stage
Data sources Manually collected
Reference 15959873; 15166289;
Functional description 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 (PubMed:8070404, PubMed:7973638). Binding to Eph receptors residing on adjacent cells leads to contact-dependent bidirectional signaling into neighboring cells (PubMed:8070404, PubMed:7973638). Shows high affinity for the receptor tyrosine kinase EPHB1/ELK (PubMed:8070404, PubMed:7973638). Can also bind EPHB2 and EPHB3 (PubMed:8070404). Binds to, and induces collapse of, commissural axons/growth cones in vitro (By similarity). May play a role in constraining the orientation of longitudinally projecting axons (By similarity).
Sequence
MARPGQRWLG KWLVAMVVWA LCRLATPLAK NLEPVSWSSL NPKFLSGKGL VIYPKIGDKL 60
DIICPRAEAG RPYEYYKLYL VRPEQAAACS TVLDPNVLVT CNRPEQEIRF TIKFQEFSPN 120
YMGLEFKKHH DYYITSTSNG SLEGLENREG GVCRTRTMKI IMKVGQDPNA VTPEQLTTSR 180
PSKEADNTVK MATQAPGSRG SLGDSDGKHE TVNQEEKSGP GASGGSSGDP DGFFNSKVAL 240
FAAVGAGCVI FLLIIIFLTV LLLKLRKRHR KHTQQRAAAL SLSTLASPKG GSGTAGTEPS 300
DIIIPLRTTE NNYCPHYEKV SGDYGHPVYI VQEMPPQSPA NIYYKV 346

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression in different tissues (ENCODE)