• Gene id: 4301

Gene Summary

• Gene Symbol: AFDN   Gene   UCSC   Ensembl
• Aliases: AF6, MLL-AF6, MLLT4, l-afadin
• Gene name: afadin, adherens junction formation factor
• Alternate names: afadin, ALL1-fused gene from chromosome 6 protein, myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4, myeloid/lymphoid or mixed-lineage leukemia; translocated to, 4, protein AF-6,
• Gene location: 6q27 (167826563: 167972022)     Exons: 36     NC_000006.12
• Gene summary(Entrez): This gene encodes a multi-domain protein involved in signaling and organization of cell junctions during embryogenesis. It has also been identified as the fusion partner of acute lymphoblastic leukemia (ALL-1) gene, involved in acute myeloid leukemias wit
• OMIM: 602737

Protein Summary

• Protein general information: P55196  
  • Name: Afadin (ALL1 fused gene from chromosome 6 protein) (Protein AF 6) (Afadin adherens junction formation factor)
  • Length: 1824  
  • Mass: 206804
• Sequence:

  MSAGGRDEERRKLADIIHHWNANRLDLFEISQPTEDLEFHGVMRFYFQDKAAGNFATKCIRVSSTATTQDVIETL
  AEKFRPDMRMLSSPKYSLYEVHVSGERRLDIDEKPLVVQLNWNKDDREGRFVLKNENDAIPPKKAQSNGPEKQEK
  EGVIQNFKRTLSKKEKKEKKKREKEALRQASDKDDRPFQGEDVENSRLAAEVYKDMPETSFTRTISNPEVVMKRR
  RQQKLEKRMQEFRSSDGRPDSGGTLRIYADSLKPNIPYKTILLSTTDPADFAVAEALEKYGLEKENPKDYCIARV
  MLPPGAQHSDEKGAKEIILDDDECPLQIFREWPSDKGILVFQLKRRPPDHIPKKTKKHLEGKTPKGKERADGSGY
  GSTLPPEKLPYLVELSPGRRNHFAYYNYHTYEDGSDSRDKPKLYRLQLSVTEVGTEKLDDNSIQLFGPGIQPHHC
  DLTNMDGVVTVTPRSMDAETYVEGQRISETTMLQSGMKVQFGASHVFKFVDPSQDHALAKRSVDGGLMVKGPRHK
  PGIVQETTFDLGGDIHSGTALPTSKSTTRLDSDRVSSASSTAERGMVKPMIRVEQQPDYRRQESRTQDASGPELI
  LPASIEFRESSEDSFLSAIINYTNSSTVHFKLSPTYVLYMACRYVLSNQYRPDISPTERTHKVIAVVNKMVSMME
  GVIQKQKNIAGALAFWMANASELLNFIKQDRDLSRITLDAQDVLAHLVQMAFKYLVHCLQSELNNYMPAFLDDPE
  ENSLQRPKIDDVLHTLTGAMSLLRRCRVNAALTIQLFSQLFHFINMWLFNRLVTDPDSGLCSHYWGAIIRQQLGH
  IEAWAEKQGLELAADCHLSRIVQATTLLTMDKYAPDDIPNINSTCFKLNSLQLQALLQNYHCAPDEPFIPTDLIE
  NVVTVAENTADELARSDGREVQLEEDPDLQLPFLLPEDGYSCDVVRNIPNGLQEFLDPLCQRGFCRLIPHTRSPG
  TWTIYFEGADYESHLLRENTELAQPLRKEPEIITVTLKKQNGMGLSIVAAKGAGQDKLGIYVKSVVKGGAADVDG
  RLAAGDQLLSVDGRSLVGLSQERAAELMTRTSSVVTLEVAKQGAIYHGLATLLNQPSPMMQRISDRRGSGKPRPK
  SEGFELYNNSTQNGSPESPQLPWAEYSEPKKLPGDDRLMKNRADHRSSPNVANQPPSPGGKSAYASGTTAKITSV
  STGNLCTEEQTPPPRPEAYPIPTQTYTREYFTFPASKSQDRMAPPQNQWPNYEEKPHMHTDSNHSSIAIQRVTRS
  QEELREDKAYQLERHRIEAAMDRKSDSDMWINQSSSLDSSTSSQEHLNHSSKSVTPASTLTKSGPGRWKTPAAIP
  ATPVAVSQPIRTDLPPPPPPPPVHYAGDFDGMSMDLPLPPPPSANQIGLPSAQVAAAERRKREEHQRWYEKEKAR
  LEEERERKRREQERKLGQMRTQSLNPAPFSPLTAQQMKPEKPSTLQRPQETVIRELQPQQQPRTIERRDLQYITV
  SKEELSSGDSLSPDPWKRDAKEKLEKQQQMHIVDMLSKEIQELQSKPDRSAEESDRLRKLMLEWQFQKRLQESKQ
  KDEDDEEEEDDDVDTMLIMQRLEAERRARLQDEERRRQQQLEEMRKREAEDRARQEEERRRQEEERTKRDAEEKR
  RQEEGYYSRLEAERRRQHDEAARRLLEPEAPGLCRPPLPRDYEPPSPSPAPGAPPPPPQRNASYLKTQVLSPDSL
  FTAKFVAYNEEEEEEDCSLAGPNSYPGSTGAAVGAHDACRDAKEKRSKSQDADSPGSSGAPENLTFKERQRLFSQ
  GQDVSNKVKASRKLTELENELNTK

• Structural information:
  • Protein Domains: (39..13-)
    (/note="Ras-associating-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00166-)
    (246..34-)
    (/note="Ras-associating-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00166-)
    (426..49-)
    (/note="FHA-)
    (668..90-)
    (/note="Dilute";-)
  • Interpro: IPR037977  IPR002710  IPR000253  IPR001478  IPR036034   IPR000159  IPR008984  IPR029071  
  • Prosite: PS51126 PS50106 PS50200
  • CDD: cd00060 cd15471
  • PDB: 1T2M 1XZ9 2AIN 2EXG 5A6C
  • PDBsum: 1T2M 1XZ9 2AIN 2EXG 5A6C
  • STRING: ENSP00000375960
• Other Databases: GeneCards:  AFDN  Malacards:  AFDN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0044291	cell-cell contact zone	IDA	cellular component
GO:0051015	actin filament binding	IDA	molecular function
GO:0005911	cell-cell junction	IDA	cellular component
GO:0070160	tight junction	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0061951	establishment of protein localization to plasma membrane	ISS	biological process
GO:2000049	positive regulation of cell-cell adhesion mediated by cadherin	IMP	biological process
GO:0044331	cell-cell adhesion mediated by cadherin	ISS	biological process
GO:0030336	negative regulation of cell migration	IMP	biological process
GO:0070830	bicellular tight junction assembly	IMP	biological process
GO:0005912	adherens junction	IBA	cellular component
GO:0032880	regulation of protein localization	IBA	biological process
GO:0050839	cell adhesion molecule binding	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0008022	protein C-terminus binding	TAS	molecular function
GO:0007155	cell adhesion	TAS	biological process
GO:0005911	cell-cell junction	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0007267	cell-cell signaling	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0034332	adherens junction organization	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045296	cadherin binding	HDA	molecular function
GO:0005912	adherens junction	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0017016	Ras GTPase binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0022409	positive regulation of cell-cell adhesion	IMP	biological process
GO:0090557	establishment of endothelial intestinal barrier	IMP	biological process
GO:0046931	pore complex assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0043547	positive regulation of GTPase activity	IMP	biological process
GO:0046930	pore complex	IMP	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04014	Ras signaling pathway
hsa04015	Rap1 signaling pathway
hsa04024	cAMP signaling pathway
hsa04530	Tight junction
hsa04670	Leukocyte transendothelial migration
hsa04520	Adherens junction

Diseases

Associated diseases	References
Parkinson's disease	PMID:23393160
Breast carcinoma	PMID:16819513
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray