• Gene id: 8028

Gene Summary

• Gene Symbol: MLLT10   Gene   UCSC   Ensembl
• Aliases: AF10
• Gene name: MLLT10 histone lysine methyltransferase DOT1L cofactor
• Alternate names: protein AF-10, ALL1-fused gene from chromosome 10 protein, myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10, myeloid/lymphoid or mixed-lineage leukemia; translocated to, 10, type I AF10 protein, type III AF10 prot,
• Gene location: 10p12.31 (21524615: 21743629)     Exons: 39     NC_000010.11
• Gene summary(Entrez): This gene encodes a transcription factor and has been identified as a partner gene involved in several chromosomal rearrangements resulting in various leukemias. Multiple transcript variants encoding different isoforms have been found for this gene. [prov
• OMIM: 602409

Protein Summary

• Protein general information: P55197  
  • Name: Protein AF 10 (ALL1 fused gene from chromosome 10 protein)
  • Length: 1068  
  • Mass: 113320
  • Tissue specificity: Expressed abundantly in testis.
• Sequence:

  MVSSDRPVSLEDEVSHSMKEMIGGCCVCSDERGWAENPLVYCDGHGCSVAVHQACYGIVQVPTGPWFCRKCESQE
  RAARVRCELCPHKDGALKRTDNGGWAHVVCALYIPEVQFANVSTMEPIVLQSVPHDRYNKTCYICDEQGRESKAA
  TGACMTCNKHGCRQAFHVTCAQFAGLLCEEEGNGADNVQYCGYCKYHFSKLKKSKRGSNRSYDQSLSDSSSHSQD
  KHHEKEKKKYKEKDKHKQKHKKQPEPSPALVPSLTVTTEKTYTSTSNNSISGSLKRLEDTTARFTNANFQEVSAH
  TSSGKDVSETRGSEGKGKKSSAHSSGQRGRKPGGGRNPGTTVSAASPFPQGSFSGTPGSVKSSSGSSVQSPQDFL
  SFTDSDLRNDSYSHSQQSSATKDVHKGESGSQEGGVNSFSTLIGLPSTSAVTSQPKSFENSPGDLGNSSLPTAGY
  KRAQTSGIEEETVKEKKRKGNKQSKHGPGRPKGNKNQENVSHLSVSSASPTSSVASAAGSITSSSLQKSPTLLRN
  GSLQSLSVGSSPVGSEISMQYRHDGACPTTTFSELLNAIHNGIYNSNDVAVSFPNVVSGSGSSTPVSSSHLPQQS
  SGHLQQVGALSPSAVSSAAPAVATTQANTLSGSSLSQAPSHMYGNRSNSSMAALIAQSENNQTDQDLGDNSRNLV
  GRGSSPRGSLSPRSPVSSLQIRYDQPGNSSLENLPPVAASIEQLLERQWSEGQQFLLEQGTPSDILGMLKSLHQL
  QVENRRLEEQIKNLTAKKERLQLLNAQLSVPFPTITANPSPSHQIHTFSAQTAPTTDSLNSSKSPHIGNSFLPDN
  SLPVLNQDLTSSGQSTSSSSALSTPPPAGQSPAQQGSGVSGVQQVNGVTVGALASGMQPVTSTIPAVSAVGGIIG
  ALPGNQLAINGIVGALNGVMQTPVTMSQNPTPLTHTTVPPNATHPMPATLTNSASGLGLLSDQQRQILIHQQQFQ
  QLLNSQQLTPEQHQAFLYQLMQHHHQQHHQPELQQLQIPGPTQIPINNLLAGTQAPPLHTATTNPFLTIHGDNAS
  QKVARLSDKTGPVAQEKS

• Structural information:
  • Interpro: IPR034732  IPR019786  IPR011011  IPR001965  IPR019787   IPR013083  
  • Prosite: PS51805 PS01359 PS50016
  • PDB: 5DAG 5DAH 6CKN 6CKO 6JN2
  • PDBsum: 5DAG 5DAH 6CKN 6CKO 6JN2
  • DIP: 37633
  • STRING: ENSP00000307411
• Other Databases: GeneCards:  MLLT10  Malacards:  MLLT10

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0003682	chromatin binding	IDA	molecular function
GO:0031491	nucleosome binding	IDA	molecular function
GO:0042393	histone binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0032991	protein-containing complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
T-cell acute lymphoblastic leukemia	KEGG:H00002
T-cell acute lymphoblastic leukemia	KEGG:H00002
acute monocytic leukemia	PMID:7662954
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray