Afadin

Afadin is a protein that in humans is encoded by the AFDN gene.^[5]

AFDN
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1T2M, 1XZ9, 2AIN, 2EXG, 5A6C
Identifiers
Aliases	AFDN, AF6, MLL-AF6, MLLT4, myeloid/lymphoid or mixed-lineage leukemia; translocated to, 4, afadin, adherens junction formation factor, l-afadin
External IDs	OMIM: 159559; MGI: 1314653; HomoloGene: 21202; GeneCards: AFDN; OMA:AFDN - orthologs
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6q27 Start 167,826,911 bp[1] End 167,972,023 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17|17 A1- A2 Start 13,980,801 bp[2] End 14,126,412 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube sural nerve bronchial epithelial cell ganglionic eminence right lung buccal mucosa cell minor salivary glands body of pancreas rectum caput epididymis Top expressed in lip superior cervical ganglion hair follicle skin of abdomen skin of external ear gastrula otolith organ utricle conjunctival fornix medullary collecting duct More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein C-terminus binding protein binding cadherin binding cell adhesion molecule binding actin filament binding Cellular component adherens junction cell junction plasma membrane nucleoplasm cytosol cell-cell junction nuclear speck cell-cell contact zone tight junctions Biological process cell-cell signaling positive regulation of GTPase activity cell adhesion establishment of endothelial intestinal barrier signal transduction regulation of protein localization adherens junction organization positive regulation of gene expression positive regulation of cell-cell adhesion negative regulation of cell migration cell-cell adhesion mediated by cadherin establishment of protein localization to plasma membrane bicellular tight junction assembly positive regulation of cell-cell adhesion mediated by cadherin Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4301 17356 Ensembl ENSG00000130396 ENSMUSG00000068036 UniProt P55196 Q9QZQ1 RefSeq (mRNA) NM_001040000 NM_001040001 NM_001207008 NM_001291964 NM_005936 NM_001366319 NM_001366320 NM_001366321 NM_001386888 NM_010806 RefSeq (protein) NP_001035089 NP_001193937 NP_001278893 NP_001353248 NP_001353249 NP_001353250 NP_034936 Location (UCSC) Chr 6: 167.83 – 167.97 Mb Chr 17: 13.98 – 14.13 Mb PubMed search [3] [4]
Wikidata
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Function

Afadin is a Ras (see HRAS; MIM 190020) target that regulates cell–cell adhesions downstream of Ras activation. It is fused with MLL (MIM 159555) in leukemias caused by t(6;11) translocations (Taya et al., 1998).[supplied by OMIM]^[6]

Interactions

Afadin has been shown to interact with:

• BCR gene,^[7]
• EPHB3,^[8]
• F11 receptor,^[9]
• HRAS^[10][11] and
• LMO2,^[12]
• PVRL1,^[13]
• PVRL3,^[14][15]
• Profilin 1,^[10]
• RAP1A,^[10]
• RAP1GAP,^[16]
• SORBS1,^[17]
• SSX2IP,^[18]
• Tight junction protein 1,^[11] and
• USP9X.^[19][20]