UniProt functional annotation for P55196



	UniProt functional annotation for P55196

UniProt code: P55196.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Belongs to an adhesion system, probably together with the E- cadherin-catenin system, which plays a role in the organization of homotypic, interneuronal and heterotypic cell-cell adherens junctions (AJs) (By similarity). Nectin- and actin-filament-binding protein that connects nectin to the actin cytoskeleton (PubMed:11024295). May play a key role in the organization of epithelial structures of the embryonic ectoderm (By similarity). Essential for the organization of adherens junctions (PubMed:30463011). {ECO:0000250|UniProtKB:O35889, ECO:0000250|UniProtKB:Q9QZQ1, ECO:0000269|PubMed:11024295, ECO:0000269|PubMed:30463011}.

Subunit: Homodimer. Interacts with F-actin, nectin and NECTIN3. Essential for the association of nectin and E-cadherin. Isoform 1/s- afadin does not interact with F-actin. Interacts with ZO-1 and occludin, but probably in an indirect manner. Interacts with RIT1 and RIT2 (By similarity). Interacts with NRXN1 and BCR. Interacts with ADAM10; the interaction locks ADAM10 at adherens junctions following ADAM10 recruitment to adherens junctions by TSPAN33 (PubMed:30463011). {ECO:0000250, ECO:0000269|PubMed:11024295, ECO:0000269|PubMed:15684424, ECO:0000269|PubMed:30463011}.

Subcellular location: Cell junction, adherens junction {ECO:0000269|PubMed:30463011}. Note=Not found at cell-matrix AJs. {ECO:0000250|UniProtKB:O35889}.

Domain: The PDZ/DHR domain interacts with the C-terminus of nectin and the Pro-rich C-terminal domain interacts with F-actin.

Disease: Note=A chromosomal aberration involving AFDN is associated with acute leukemias. Translocation t(6;11)(q27;q23) with KMT2A/MLL1. The result is a rogue activator protein.

Miscellaneous: [Isoform 1]: May be due to intron retention. {ECO:0000305}.

Miscellaneous: [Isoform 2]: May be due to intron retention. {ECO:0000305}.

Sequence caution: Sequence=CAB82312.1; Type=Frameshift; Evidence={ECO:0000305};

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Belongs to an adhesion system, probably together with the E- cadherin-catenin system, which plays a role in the organization of homotypic, interneuronal and heterotypic cell-cell adherens junctions (AJs) (By similarity). Nectin- and actin-filament-binding protein that connects nectin to the actin cytoskeleton (PubMed:11024295). May play a key role in the organization of epithelial structures of the embryonic ectoderm (By similarity). Essential for the organization of adherens junctions (PubMed:30463011). {ECO:0000250\|UniProtKB:O35889, ECO:0000250\|UniProtKB:Q9QZQ1, ECO:0000269\|PubMed:11024295, ECO:0000269\|PubMed:30463011}.


Subunit:		Homodimer. Interacts with F-actin, nectin and NECTIN3. Essential for the association of nectin and E-cadherin. Isoform 1/s- afadin does not interact with F-actin. Interacts with ZO-1 and occludin, but probably in an indirect manner. Interacts with RIT1 and RIT2 (By similarity). Interacts with NRXN1 and BCR. Interacts with ADAM10; the interaction locks ADAM10 at adherens junctions following ADAM10 recruitment to adherens junctions by TSPAN33 (PubMed:30463011). {ECO:0000250, ECO:0000269\|PubMed:11024295, ECO:0000269\|PubMed:15684424, ECO:0000269\|PubMed:30463011}.
Subcellular location:		Cell junction, adherens junction {ECO:0000269\|PubMed:30463011}. Note=Not found at cell-matrix AJs. {ECO:0000250\|UniProtKB:O35889}.
Domain:		The PDZ/DHR domain interacts with the C-terminus of nectin and the Pro-rich C-terminal domain interacts with F-actin.
Disease:		Note=A chromosomal aberration involving AFDN is associated with acute leukemias. Translocation t(6;11)(q27;q23) with KMT2A/MLL1. The result is a rogue activator protein.
Miscellaneous:		[Isoform 1]: May be due to intron retention. {ECO:0000305}.
Miscellaneous:		[Isoform 2]: May be due to intron retention. {ECO:0000305}.
Sequence caution:		Sequence=CAB82312.1; Type=Frameshift; Evidence={ECO:0000305};