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Aliases for MLLT4 Gene

Aliases for MLLT4 Gene

  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia; Translocated To, 4 2 3
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax Homolog, Drosophila); Translocated To, 4 2 3
  • ALL1-Fused Gene From Chromosome 6 Protein 3 4
  • Protein AF-6 3 4
  • AF6 3 4
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax (Drosophila) Homolog); Translocated To, 4 2
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia Translocated To, 4 5
  • MLL-AF6 3

External Ids for MLLT4 Gene

Previous GeneCards Identifiers for MLLT4 Gene

  • GC06M167426
  • GC06P167949
  • GC06P167985
  • GC06P168046
  • GC06P168227
  • GC06P165693

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; Translocated To, 4) is a Protein Coding gene. Diseases associated with MLLT4 include central nervous system leukemia and myeloid/lymphoid or mixed lineage leukemia. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Blood-Brain Barrier and Immune Cell Transmigration: Pathways Overview. GO annotations related to this gene include protein C-terminus binding and Ras GTPase 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

Regulatory Elements for MLLT4 Gene

Promoters for MLLT4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MLLT4 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for MLLT4 Gene

Chromosome:
6
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

Genes around MLLT4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MLLT4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MLLT4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MLLT4 Gene

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

  • Glycosylation at Asn 1246
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MLLT4 (Afadin)

No data available for DME Specific Peptides for MLLT4 Gene

Domains & Families for MLLT4 Gene

Gene Families for MLLT4 Gene

Graphical View of Domain Structure for InterPro Entry

P55196

UniProtKB/Swiss-Prot:

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

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.
genes like me logo Genes that share phenotypes with MLLT4: view

Animal Models for MLLT4 Gene

MGI Knock Outs for MLLT4:

Animal Model Products

CRISPR Products

miRNA for MLLT4 Gene

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets 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 5
nucleus 5
plasma membrane 5
cytoskeleton 2
extracellular 1

Gene Ontology (GO) - Cellular Components for MLLT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030054 cell junction IEA,IDA --
GO:0045177 apical part of cell IEA --
genes like me logo Genes that share ontologies with MLLT4: view

Pathways & Interactions 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:0021987 cerebral cortex development IEA --
GO:0034332 adherens junction organization TAS --
GO:0034334 adherens junction maintenance IEA --
GO:0048854 brain morphogenesis IEA --
GO:0048872 homeostasis of number of cells IEA --
genes like me logo Genes that share ontologies with MLLT4: view

No data available for SIGNOR curated interactions for MLLT4 Gene

Drugs & Compounds for MLLT4 Gene

(3) Drugs for MLLT4 Gene - From: Novoseek and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
(5R)-2-SULFANYL-5-[4-(TRIFLUOROMETHYL)BENZYL]-1,3-THIAZOL-4-ONE Experimental Pharma Target 0
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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MLLT4 Gene

This gene is overexpressed in Cervix (19.0) and Adipocyte (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with MLLT4: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for MLLT4 Gene

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 35
  • 98.23 (n)
  • 98.29 (a)
MLLT4 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MLLT4 36
  • 81 (a)
OneToOne
MLLT4 35
  • 81.45 (n)
  • 89.03 (a)
dog
(Canis familiaris)
Mammalia MLLT4 35
  • 88.07 (n)
  • 94.51 (a)
MLLT4 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mllt4 36
  • 85 (a)
OneToOne
Mllt4 16
Mllt4 35
  • 87 (n)
  • 92.48 (a)
oppossum
(Monodelphis domestica)
Mammalia MLLT4 36
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 84 (a)
OneToMany
-- 36
  • 77 (a)
OneToMany
-- 36
  • 86 (a)
OneToMany
-- 36
  • 78 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Mllt4 35
  • 87.93 (n)
  • 94.47 (a)
chicken
(Gallus gallus)
Aves MLLT4 36
  • 80 (a)
OneToOne
MLLT4 35
  • 80.9 (n)
  • 90.21 (a)
lizard
(Anolis carolinensis)
Reptilia MLLT4 36
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.22528 35
tropical clawed frog
(Silurana tropicalis)
Amphibia mllt4 35
  • 73.37 (n)
  • 79.83 (a)
Str.20348 35
zebrafish
(Danio rerio)
Actinopterygii mllt4 36
  • 65 (a)
OneToMany
MLLT4 (2 of 3) 36
  • 44 (a)
OneToMany
MLLT4 (3 of 3) 36
  • 58 (a)
OneToMany
mllt4 35
  • 71.06 (n)
  • 78.38 (a)
fruit fly
(Drosophila melanogaster)
Insecta cno 37
  • 51 (a)
cno 36
  • 31 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea afd-1 35
  • 47.68 (n)
  • 39.92 (a)
W03F11.6a 37
  • 33 (a)
afd-1 36
  • 27 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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
rs476735 -- 167,834,480(-) CTTTC(A/G)AAAAA intron-variant
rs534108 -- 167,835,686(-) ctgat(A/G)gcacc intron-variant
rs632256 -- 167,912,696(+) GAGAC(A/G)CCTAT intron-variant
rs687104 -- 167,935,481(+) TGTGG(C/T)TAATT intron-variant, utr-variant-3-prime
rs667842 -- 167,941,752(+) GTGGA(C/T)AGACA 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

Variation tolerance for MLLT4 Gene

Residual Variation Intolerance Score: 2.63% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.78; 58.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MLLT4 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MLLT4 Gene

Disorders for MLLT4 Gene

MalaCards: The human disease database

(8) MalaCards diseases for MLLT4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
central nervous system leukemia
  • leukemia of the cns
myeloid/lymphoid or mixed lineage leukemia
  • mll
acute monocytic leukemia
  • acute monoblastic leukemia and acute monocytic leukemia
monocytic leukemia
  • schilling's leukemia
leukemia
- elite association - COSMIC cancer census association via MalaCards
Search MLLT4 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for MLLT4

Genetic Association Database (GAD)
MLLT4
Human Genome Epidemiology (HuGE) Navigator
MLLT4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MLLT4
genes like me logo Genes that share disorders with MLLT4: view

No data available for Genatlas for MLLT4 Gene

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 67
  2. Junctional adhesion molecule A interacts with Afadin and PDZ-GEF2 to activate Rap1A, regulate beta1 integrin levels, and enhance cell migration. (PMID: 19176753) Severson E.A. … Parkos C.A. (Mol. Biol. Cell 2009) 3 23
  3. 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
  4. AF6/s-afadin is a dual residency protein and localizes to a novel subnuclear compartment. (PMID: 17013812) Buchert M. … Hovens C.M. (J. Cell. Physiol. 2007) 3 23
  5. Regulation of c-Src by binding to the PDZ domain of AF-6. (PMID: 17491594) Radziwill G. … Moelling K. (EMBO J. 2007) 3 23

Products for MLLT4 Gene

Sources for MLLT4 Gene

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