Gene Gene information from NCBI Gene database.
Entrez ID 8028
Gene name MLLT10 histone lysine methyltransferase DOT1L cofactor
Gene symbol MLLT10
Synonyms (NCBI Gene)
AF10
Chromosome 10
Chromosome location 10p12.31
Summary 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
miRNA miRNA information provided by mirtarbase database.
643
miRTarBase ID miRNA Experiments Reference
MIRT021746 hsa-miR-132-3p Microarray 17612493
MIRT566773 hsa-miR-495-3p PAR-CLIP 20371350
MIRT566772 hsa-miR-5688 PAR-CLIP 20371350
MIRT566771 hsa-miR-7-1-3p PAR-CLIP 20371350
MIRT566770 hsa-miR-7-2-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0003682 Function Chromatin binding IDA 26439302
GO:0005515 Function Protein binding IPI 17868029, 21103407, 32296183
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 15851025
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602409 16063 ENSG00000078403
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P55197
Protein name Protein AF-10 (ALL1-fused gene from chromosome 10 protein)
Protein function Probably involved in transcriptional regulation. In vitro or as fusion protein with KMT2A/MLL1 has transactivation activity. Binds to cruciform DNA. In cells, binding to unmodified histone H3 regulates DOT1L functions including histone H3 'Lys-7
PDB 5DAG , 5DAH , 6CKN , 6CKO , 6JN2 , 7MJU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13831 PHD_2 36 72 Family
PF13832 zf-HC5HC2H_2 80 197 Domain
Tissue specificity TISSUE SPECIFICITY: Expressed abundantly in testis.
Sequence
MVSSDRPVSLEDEVSHSMKEMIGGCCVCSDERGWAENPLVYCDGHGCSVAVHQACYGIVQ
VPTGPWFCRKCE
SQERAARVRCELCPHKDGALKRTDNGGWAHVVCALYIPEVQFANVSTM
EPIVLQSVPHDRYNKTCYICDEQGRESKAATGACMTCNKHGCRQAFHVTCAQFAGLLCEE
EGNGADNVQYCGYCKYH
FSKLKKSKRGSNRSYDQSLSDSSSHSQDKHHEKEKKKYKEKDK
HKQKHKKQPEPSPALVPSLTVTTEKTYTSTSNNSISGSLKRLEDTTARFTNANFQEVSAH
TSSGKDVSETRGSEGKGKKSSAHSSGQRGRKPGGGRNPGTTVSAASPFPQGSFSGTPGSV
KSSSGSSVQSPQDFLSFTDSDLRNDSYSHSQQSSATKDVHKGESGSQEGGVNSFSTLIGL
PSTSAVTSQPKSFENSPGDLGNSSLPTAGYKRAQTSGIEEETVKEKKRKGNKQSKHGPGR
PKGNKNQENVSHLSVSSASPTSSVASAAGSITSSSLQKSPTLLRNGSLQSLSVGSSPVGS
EISMQYRHDGACPTTTFSELLNAIHNGIYNSNDVAVSFPNVVSGSGSSTPVSSSHLPQQS
SGHLQQVGALSPSAVSSAAPAVATTQANTLSGSSLSQAPSHMYGNRSNSSMAALIAQSEN
NQTDQDLGDNSRNLVGRGSSPRGSLSPRSPVSSLQIRYDQPGNSSLENLPPVAASIEQLL
ERQWSEGQQFLLEQGTPSDILGMLKSLHQLQVENRRLEEQIKNLTAKKERLQLLNAQLSV
PFPTITANPSPSHQIHTFSAQTAPTTDSLNSSKSPHIGNSFLPDNSLPVLNQDLTSSGQS
TSSSSALSTPPPAGQSPAQQGSGVSGVQQVNGVTVGALASGMQPVTSTIPAVSAVGGIIG
ALPGNQLAINGIVGALNGVMQTPVTMSQNPTPLTHTTVPPNATHPMPATLTNSASGLGLL
SDQQRQILIHQQQFQQLLNSQQLTPEQHQAFLYQLMQHHHQQHHQPELQQLQIPGPTQIP
INNLLAGTQAPPLHTATTNPFLTIHGDNASQKVARLSDKTGPVAQEKS
Sequence length 1068
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
15
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Uncertain significance rs150803413 RCV001336718
Lung cancer Uncertain significance rs373142344 RCV005932517
MLLT10-related disorder Likely benign; Benign rs201211956, rs397719980, rs370897151, rs142539244, rs144239673, rs142554860, rs193253280, rs377622136, rs369797804, rs201326052, rs201364627, rs1802669 RCV003909459
RCV003923914
RCV003904771
RCV003981236
RCV003941691
RCV003956878
RCV003922305
RCV003926824
RCV003954543
RCV003944693
RCV003972139
RCV003972196
Sarcoma Likely benign rs377622136 RCV005938809
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Brain Neoplasms Associate 24755950
Carcinoma Ovarian Epithelial Associate 23535730
Cell Transformation Viral Associate 29563185
Emanuel syndrome Associate 10554802
Emphysema Associate 12555219
Hematologic Neoplasms Associate 11756182, 39499083
Inflammation Associate 26480920
Leukemia Associate 23673860, 31527241, 37031220, 38048593
Leukemia Megakaryoblastic Acute Associate 37478796
Leukemia Myeloid Associate 12555219