Search
afadin; ALL1 fused gene from chromosome 6 protein; protein AF-6 (MLLT4 AF6)
Function:
1) component of adhesion system
2) associated with adherens junctions
3) connects nectin to the actin cytoskeleton
4) interacts with F-actin & nectin
5) essential for the association of nectin & E-cadherin
6) isoform 2/s-afadin does not interact with F-actin
7) interacts with ZO-1 & occludin, probably indirecty
8) interacts with RIT1 & RIT2 (putative)
9) interacts with NRXN1 & BCR
10) isoform 3 is phosphorylated on Ser-1718
11) isoform 4 is phosphorylated on Ser-1799
12) isoform 5 is phosphorylated on Ser-1809
Structure:
- homodimer
- PDZ/DHR domain interacts with the C-terminus of nectin
- Pro-rich N-terminus domain interacts with F-actin
- contains 1 dilute domain
- contains 1 FHA domain
- contains 1 PDZ domain (DHR domain)
- contains 2 Ras-associating domains
Compartment: cell membrane; cell-cell junction, adherens junction
Alternative splicing: named isoforms=3
Pathology:
- chromosomal aberration of MLLT4 associated with acute leukemias - translocation t(6;11)(q27;q23) with MLL, resulting in a rogue activator protein
Related
AF6 gene or MLLT4 gene
General
cytoskeletal protein
phosphoprotein
Properties
SIZE: entity length = 1612 aa
COMPARTMENT: cytoplasm
MOTIF: RAS-ASSOCIATING 1 {39-133}
coiled coil {145-184}
MOTIF: lysine-rich region {162-174}
MOTIF: lysine residue (SEVERAL)
RAS-ASSOCIATING 2 {245-347}
forkhead-associated (FHA) domain {425-491}
DILUTE {652-892}
PDZ domain
NAME: PDZ domain
SITE: 991-1076
Ser phosphorylation site {S1155}
Ser phosphorylation site {S1156}
Ser phosphorylation site {S1165}
Ser phosphorylation site {S1184}
Ser phosphorylation site {S1258}
proline-rich region
SITE: 1329-1375
MOTIF: proline residue (SEVERAL)
coiled coil {1391-1431}
coiled coil {1506-1650}
MOTIF: acidic region {1561-1571}
MOTIF: acidic residue (SEVERAL)
proline-rich region
SITE: 1661-1691
MOTIF: proline residue (SEVERAL)
Database Correlations
OMIM 159559
UniProt P55196
PFAM correlations
Entrez Gene 4301
References
- OMIM :accession 159559
- UniProt :accession P55196
- Atlas of Genetics & Cytogenetics in Oncology & Haematology
http://atlasgeneticsoncology.org/genes/AF6.html