Gene: Efnb1

Basic information

Tag Content
Uniprot ID P52795
Entrez ID 13641
Genbank protein ID AAC53247.1; CAA88695.1; AAH21656.1; AAH06797.1; AAA53231.1;
Genbank nucleotide ID NM_010110.5
Ensembl protein ID ENSMUSP00000050716
Ensembl nucleotide ID ENSMUSG00000031217
Gene name Ephrin-B1
Gene symbol Efnb1
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage E14.5
Data sources Manually collected
Reference 12919674; 15037550;
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:7929389, PubMed:10704386). Binding to Eph receptors residing on adjacent cells leads to contact-dependent bidirectional signaling into neighboring cells (PubMed:7929389, PubMed:10704386). Shows high affinity for the receptor tyrosine kinase EPHB1/ELK (By similarity). Can also bind EPHB2 and EPHB3 (PubMed:7929389). Binds to, and induces the collapse of, commissural axons/growth cones in vitro (PubMed:10704386). May play a role in constraining the orientation of longitudinally projecting axons (PubMed:10704386).
Sequence
MARPGQRWLS KWLVAMVVLT LCRLATPLAK NLEPVSWSSL NPKFLSGKGL VIYPKIGDKL 60
DIICPRAEAG RPYEYYKLYL VRPEQAAACS TVLDPNVLVT CNKPHQEIRF TIKFQEFSPN 120
YMGLEFKKYH DYYITSTSNG SLEGLENREG GVCRTRTMKI VMKVGQDPNA VTPEQLTTSR 180
PSKESDNTVK TATQAPGRGS QGDSDGKHET VNQEEKSGPG AGGGGSGDSD SFFNSKVALF 240
AAVGAGCVIF LLIIIFLTVL LLKLRKRHRK HTQQRAAALS LSTLASPKGG SGTAGTEPSD 300
IIIPLRTTEN NYCPHYEKVS GDYGHPVYIV QEMPPQSPAN IYYKV 345

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 information

Gene expression during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

loading...

Protein structural annotations

3D structure in PDB database


loading...

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologEFNB1534413A1L570Bos taurusPredictionMore>>
1:1 orthologEFNB1607410E2QSB5Canis lupus familiarisPredictionMore>>
1:1 orthologEFNB1102183496A0A452DVX4Capra hircusPredictionMore>>
1:1 orthologEFNB11947P98172CPO,CL/PHomo sapiensPublicationMore>>
1:1 orthologEfnb113641P52795CPOE14.5Mus musculusPublicationMore>>
1:1 orthologEFNB1473651K7APG7Pan troglodytesPredictionMore>>
1:1 orthologEFNB1A0A287BK49Sus scrofaPredictionMore>>
1:1 orthologEfnb125186Q6P7B6Rattus norvegicusPredictionMore>>
1:1 orthologefnb1114377Q90Z33Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
EFNB11A>G; 57G>A; 185T>C; 196C>T; 246delG; 293T>C; 344A>C; 355C>A; 356C>A; 406+1G>A; 407-1G>A; 451G>A; 452G>T; 463A>C; 472A>G; 474G>T; 629-2A>GPCR15166289
EFNB1c.443_444delGG; p.N147fs*173PCR and sequencing15959873
EFNB1c.258_261dupAGCT; p.A87fs*91PCR and sequencing15959873

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0005515 protein bindingIPI
GO:0046875 ephrin receptor bindingIPI
GO:0046875 ephrin receptor bindingIBA

GO:Biological Process

GO ID GO Term Evidence
GO:0001755 neural crest cell migrationIMP
GO:0007399 nervous system developmentISO
GO:0007411 axon guidanceIMP
GO:0007411 axon guidanceIBA
GO:0009880 embryonic pattern specificationIMP
GO:0031295 T cell costimulationIDA
GO:0042102 positive regulation of T cell proliferationIDA
GO:0048013 ephrin receptor signaling pathwayIBA
GO:0099054 presynapse assemblyISO

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusIDA
GO:0005737 cytoplasmIDA
GO:0005886 plasma membraneISO
GO:0005886 plasma membraneIBA
GO:0005886 plasma membraneTAS
GO:0045121 membrane raftIDA
GO:0045202 synapseISO
GO:0098978 glutamatergic synapseISO
GO:0099056 integral component of presynaptic membraneISO

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-1266738 Developmental BiologyIEA
R-MMU-2682334 EPH-Ephrin signalingIEA
R-MMU-3928662 EPHB-mediated forward signalingIEA
R-MMU-3928664 Ephrin signalingIEA
R-MMU-3928665 EPH-ephrin mediated repulsion of cellsIEA
R-MMU-422475 Axon guidanceIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-1003 Cell membrane
KW-0217 Developmental protein
KW-0221 Differentiation
KW-1015 Disulfide bond
KW-0325 Glycoprotein
KW-0472 Membrane
KW-0524 Neurogenesis
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-1185 Reference proteome
KW-0732 Signal
KW-0812 Transmembrane
KW-1133 Transmembrane helix

Interpro

InterPro ID InterPro Term
IPR008972 Cupredoxin
IPR031328 Ephrin
IPR034255 Ephrin-B_Ecto
IPR019765 Ephrin_CS
IPR001799 Ephrin_RBD

PROSITE

PROSITE ID PROSITE Term
PS01299 EPHRIN_RBD_1
PS51551 EPHRIN_RBD_2

Pfam

Pfam ID Pfam Term
PF00812 Ephrin

Protein-protein interaction

Protein-miRNA interaction