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Aliases for MLLT4 Gene

Aliases for MLLT4 Gene

  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax Homolog, Drosophila); Translocated To, 4 2 3
  • AF6 3 4 6
  • ALL1-Fused Gene From Chromosome 6 Protein 3 4
  • Protein AF-6 3 4
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax (Drosophila) Homolog); Translocated To, 4 2
  • Afadin 3

External Ids for MLLT4 Gene

Summaries for MLLT4 Gene

Entrez Gene Summary for MLLT4 Gene

  • 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 with t(6;11)(q27;q23) translocation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, however, not all have been fully characterized.[provided by RefSeq, May 2011]

GeneCards Summary for MLLT4 Gene

MLLT4 (Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax Homolog, Drosophila); Translocated To, 4) is a Protein Coding gene. Diseases associated with MLLT4 include lymphoblastic leukemia and leukemia. Among its related pathways are Ras signaling pathway and Ras signaling pathway. GO annotations related to this gene include protein C-terminus binding and cell adhesion molecule binding. An important paralog of this gene is PPP1R9A.

UniProtKB/Swiss-Prot for MLLT4 Gene

  • 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). Nectin- and actin-filament-binding protein that connects nectin to the actin cytoskeleton

Gene Wiki entry for MLLT4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MLLT4 Gene

Genomics for MLLT4 Gene

Genomic Location for MLLT4 Gene

Start:
167,826,922 bp from pter
End:
167,972,023 bp from pter
Size:
145,102 bases
Orientation:
Plus strand

Genomic View for MLLT4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MLLT4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MLLT4 Gene

Regulatory Elements for MLLT4 Gene

Transcription factor binding sites by QIAGEN in the MLLT4 gene promoter:

Proteins for MLLT4 Gene

  • Protein details for MLLT4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55196-AFAD_HUMAN
    Recommended name:
    Afadin
    Protein Accession:
    P55196
    Secondary Accessions:
    • O75087
    • O75088
    • O75089
    • Q59FP0
    • Q5TIG6
    • Q5TIG7
    • Q9NSN7
    • Q9NU92

    Protein attributes for MLLT4 Gene

    Size:
    1824 amino acids
    Molecular mass:
    206804 Da
    Quaternary structure:
    • Homodimer. Interacts with F-actin, nectin and PVRL3/nectin-3. 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.
    SequenceCaution:
    • Sequence=CAB82312.1; Type=Frameshift; Positions=1509, 1512, 1701; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MLLT4 Gene

    Alternative splice isoforms for MLLT4 Gene

neXtProt entry for MLLT4 Gene

Proteomics data for MLLT4 Gene at MOPED

Post-translational modifications for MLLT4 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn1246

No data available for DME Specific Peptides for MLLT4 Gene

Domains for MLLT4 Gene

UniProtKB/Swiss-Prot:

AFAD_HUMAN
Domain:
  • The PDZ/DHR domain interacts with the C-terminus of nectin and the Pro-rich C-terminal domain interacts with F-actin:
    • P55196
  • Contains 1 dilute domain.:
    • P55196
  • Contains 1 FHA domain.:
    • P55196
  • Contains 1 PDZ (DHR) domain.:
    • P55196
  • Contains 2 Ras-associating domains.:
    • P55196
genes like me logo Genes that share domains with MLLT4: view

No data available for Gene Families for MLLT4 Gene

Function for MLLT4 Gene

Molecular function for MLLT4 Gene

GENATLAS Biochemistry: GTP-Ha-Ras binding cytoplasmic protein AF-6,fused with HRX (MLL),in acute myeloid leukemia,with translocation t(6;11)(q27;q23) in a VNTR rich region (see TSG6C)
UniProtKB/Swiss-Prot 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). Nectin- and actin-filament-binding protein that connects nectin to the actin cytoskeleton

Gene Ontology (GO) - Molecular Function for MLLT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17491594
GO:0008022 protein C-terminus binding TAS 10856295
GO:0017016 Ras GTPase binding IDA 23885123
GO:0050839 cell adhesion molecule binding IEA --
genes like me logo Genes that share ontologies with MLLT4: view
genes like me logo Genes that share phenotypes with MLLT4: view

Animal Models for MLLT4 Gene

MGI Knock Outs for MLLT4:

miRNA for MLLT4 Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for MLLT4 Gene

Localization for MLLT4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MLLT4 Gene

Cell junction, adherens junction. Note=Not found at cell-matrix AJs.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MLLT4 Gene COMPARTMENTS Subcellular localization image for MLLT4 gene
Compartment Confidence
cytosol 4
nucleus 4
plasma membrane 4
cytoskeleton 2
extracellular 1

Gene Ontology (GO) - Cellular Components for MLLT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with MLLT4: view

Pathways for MLLT4 Gene

genes like me logo Genes that share pathways with MLLT4: view

Gene Ontology (GO) - Biological Process for MLLT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0007165 signal transduction IEA --
GO:0007267 cell-cell signaling TAS 8242616
GO:0034329 cell junction assembly TAS --
GO:0034332 adherens junction organization TAS --
genes like me logo Genes that share ontologies with MLLT4: view

Compounds for MLLT4 Gene

(1) Drugbank Compounds for MLLT4 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
(5R)-2-SULFANYL-5-[4-(TRIFLUOROMETHYL)BENZYL]-1,3-THIAZOL-4-ONE
target

(2) Novoseek inferred chemical compound relationships for MLLT4 Gene

Compound -log(P) Hits PubMed IDs
tyrosine 25.3 2
calcium 0 1
genes like me logo Genes that share compounds with MLLT4: view

Transcripts for MLLT4 Gene

Unigene Clusters for MLLT4 Gene

Myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MLLT4 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c ^ 16 ^ 17 ^ 18a · 18b ^
SP1: - -
SP2:
SP3:
SP4:
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: -
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:

ExUns: 19a · 19b ^ 20a · 20b ^ 21a · 21b ^ 22a · 22b ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b · 27c ^ 28a · 28b · 28c ^ 29a · 29b · 29c ^ 30a · 30b ^ 31a · 31b ^ 32 ^
SP1:
SP2:
SP3: -
SP4: -
SP5: -
SP6:
SP7:
SP8: -
SP9: -
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:

ExUns: 33a · 33b · 33c ^ 34 ^ 35a · 35b ^ 36a · 36b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: - -
SP15: -
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:

Relevant External Links for MLLT4 Gene

GeneLoc Exon Structure for
MLLT4
ECgene alternative splicing isoforms for
MLLT4

Expression for MLLT4 Gene

mRNA expression in normal human tissues for MLLT4 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MLLT4 Gene

SOURCE GeneReport for Unigene cluster for MLLT4 Gene Hs.614974

genes like me logo Genes that share expressions with MLLT4: view

Orthologs for MLLT4 Gene

This gene was present in the common ancestor of animals.

Orthologs for MLLT4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MLLT4 36
  • 98.23 (n)
  • 98.29 (a)
MLLT4 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MLLT4 36
  • 81.45 (n)
  • 89.03 (a)
MLLT4 37
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MLLT4 36
  • 88.07 (n)
  • 94.51 (a)
MLLT4 37
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mllt4 36
  • 87 (n)
  • 92.48 (a)
Mllt4 16
Mllt4 37
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MLLT4 37
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 84 (a)
OneToMany
-- 37
  • 77 (a)
OneToMany
-- 37
  • 86 (a)
OneToMany
-- 37
  • 78 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Mllt4 36
  • 87.93 (n)
  • 94.47 (a)
chicken
(Gallus gallus)
Aves MLLT4 36
  • 80.9 (n)
  • 90.21 (a)
MLLT4 37
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MLLT4 37
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.22528 36
tropical clawed frog
(Silurana tropicalis)
Amphibia mllt4 36
  • 73.37 (n)
  • 79.83 (a)
Str.20348 36
zebrafish
(Danio rerio)
Actinopterygii mllt4 36
  • 71.06 (n)
  • 78.38 (a)
mllt4 37
  • 65 (a)
OneToMany
MLLT4 (2 of 3) 37
  • 44 (a)
OneToMany
MLLT4 (3 of 3) 37
  • 58 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta cno 37
  • 31 (a)
OneToOne
cno 38
  • 51 (a)
worm
(Caenorhabditis elegans)
Secernentea afd-1 36
  • 47.68 (n)
  • 39.92 (a)
afd-1 37
  • 27 (a)
OneToOne
W03F11.6a 38
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 44 (a)
OneToOne
Species with no ortholog for MLLT4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MLLT4 Gene

ENSEMBL:
Gene Tree for MLLT4 (if available)
TreeFam:
Gene Tree for MLLT4 (if available)

Paralogs for MLLT4 Gene

Paralogs for MLLT4 Gene

genes like me logo Genes that share paralogs with MLLT4: view

Variants for MLLT4 Gene

Sequence variations from dbSNP and Humsavar for MLLT4 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs1415 -- 167,964,191(-) TTATT(C/T)GCCTT utr-variant-3-prime, intron-variant
rs1417 -- 167,964,173(-) TGACC(A/T)CTTAA utr-variant-3-prime, intron-variant
rs1418 -- 167,964,133(-) TTTCA(A/C)ATAAT utr-variant-3-prime, intron-variant
rs476735 -- 167,834,480(-) CTTTC(A/G)AAAAA intron-variant
rs506378 -- 167,833,574(-) ATGAG(C/T)AAACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MLLT4 Gene

Variant ID Type Subtype PubMed ID
esv2422263 CNV Duplication 17116639
nsv886955 CNV Gain 21882294
dgv27e196 CNV Duplication 17116639
nsv830864 CNV Gain 17160897
dgv217e55 CNV Gain 17911159
dgv2034e1 CNV Complex 17122850
esv2678919 CNV Deletion 23128226
esv2422479 CNV Duplication 17116639
nsv830865 CNV Gain 17160897
dgv218e55 CNV Gain 17911159
esv272899 CNV Insertion 20981092
nsv515568 CNV Gain+Loss 19592680
esv32818 CNV Gain 17666407
dgv791n27 CNV Gain 19166990
dgv2035e1 CNV Complex 17122850
nsv8004 CNV Gain 18304495
esv23528 CNV Gain+Loss 19812545
nsv442020 CNV CNV 18776908
esv2572068 CNV Deletion 19546169
nsv820650 CNV Deletion 20802225
nsv511926 CNV Loss 21212237
esv991018 CNV Deletion 20482838
esv1558245 CNV Deletion 17803354
dgv61n64 CNV Gain 17921354
nsv509173 CNV Insertion 20534489
dgv7038n71 CNV Loss 21882294
nsv886961 CNV Loss 21882294
nsv886962 CNV Loss 21882294
nsv5593 CNV Insertion 18451855

Relevant External Links for MLLT4 Gene

HapMap Linkage Disequilibrium report
MLLT4
Human Gene Mutation Database (HGMD)
MLLT4

Disorders for MLLT4 Gene

UniProtKB/Swiss-Prot

AFAD_HUMAN
  • Note=A chromosomal aberration involving MLLT4 is associated with acute leukemias. Translocation t(6;11)(q27;q23) with KMT2A/MLL1. The result is a rogue activator protein.

(3) Novoseek inferred disease relationships for MLLT4 Gene

Disease -log(P) Hits PubMed IDs
leukemia 14.2 4
acute leukemia 13.7 1
tumors 4.85 1

Relevant External Links for MLLT4

Genetic Association Database (GAD)
MLLT4
Human Genome Epidemiology (HuGE) Navigator
MLLT4
genes like me logo Genes that share disorders with MLLT4: view

Publications for MLLT4 Gene

  1. Cloning of the ALL-1 fusion partner, the AF-6 gene, involved in acute myeloid leukemias with the t(6;11) chromosome translocation. (PMID: 8242616) Prasad R. … Canaani E. (Cancer Res. 1993) 2 3 4 23
  2. Complete genomic structure, DNA polymorphisms, and alternative splicing of the human AF-6 gene. (PMID: 9679199) Saito S. … Nakamura Y. (DNA Res. 1998) 3 4 23
  3. Human nectin3/PRR3: a novel member of the PVR/PRR/nectin family that interacts with afadin. (PMID: 11024295) Reymond N. … Lopez M. (Gene 2000) 3 4 23
  4. Nectin and afadin: novel organizers of intercellular junctions. (PMID: 12456712) Takai Y. … Nakanishi H. (J. Cell Sci. 2003) 3 4 23
  5. Correlated break at PARK2/FRA6E and loss of AF-6/Afadin protein expression are associated with poor outcome in breast cancer. (PMID: 16819513) Letessier A. … Chaffanet M. (Oncogene 2007) 3 23

Products for MLLT4 Gene

Sources for MLLT4 Gene

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