Gene Gene information from NCBI Gene database.
Entrez ID 4300
Gene name MLLT3 super elongation complex subunit
Gene symbol MLLT3
Synonyms (NCBI Gene)
AF9YEATS3
Chromosome 9
Chromosome location 9p21.3
miRNA miRNA information provided by mirtarbase database.
164
miRTarBase ID miRNA Experiments Reference
MIRT022911 hsa-miR-124-3p Microarray 18668037
MIRT508970 hsa-miR-1277-5p PAR-CLIP 20371350
MIRT535872 hsa-miR-5692b PAR-CLIP 20371350
MIRT535871 hsa-miR-5692c PAR-CLIP 20371350
MIRT508975 hsa-miR-410-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0003682 Function Chromatin binding IBA
GO:0003682 Function Chromatin binding IDA 25417107, 27105114
GO:0005515 Function Protein binding IPI 16189514, 20153263, 20203130, 21729782, 23145062, 23260655, 26496610, 28514442, 32296183, 33961781
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
159558 7136 ENSG00000171843
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P42568
Protein name Protein AF-9 (ALL1-fused gene from chromosome 9 protein) (Myeloid/lymphoid or mixed-lineage leukemia translocated to chromosome 3 protein) (YEATS domain-containing protein 3)
Protein function Chromatin reader component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA (PubMed:201
PDB 2LM0 , 2MV7 , 2N4Q , 2NDF , 2NDG , 4TMP , 5HJB , 5HJD , 5YYF , 6B7G , 6L5Z , 6LS6 , 6MIL , 6MIM , 7EIC , 7EID , 7VKG , 7VKH , 8PJ7 , 8TLV , 8TLW , 8TLX , 9ARO , 9ARR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03366 YEATS 29 110 YEATS family Domain
PF17793 AHD 503 563 ANC1 homology domain (AHD) Domain
Tissue specificity TISSUE SPECIFICITY: Enriched in undifferentiated hematopoietic stem cells in fetal liver, cord blood and bone marrow. {ECO:0000269|PubMed:31776511}.
Sequence
MASSCAVQVKLELGHRAQVRKKPTVEGFTHDWMVFVRGPEHSNIQHFVEKVVFHLHESFP
RPKRVCKDPPYKVEESGYAGFILPIEVYFKNKEEPRKVRFDYDLFLHLEG
HPPVNHLRCE
KLTFNNPTEDFRRKLLKAGGDPNRSIHTSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSS
SSSSSSSSSSTSFSKPHKLMKEHKEKPSKDSREHKSAFKEPSRDHNKSSKESSKKPKENK
PLKEEKIVPKMAFKEPKPMSKEPKPDSNLLTITSGQDKKAPSKRPPISDSEELSAKKRKK
SSSEALFKSFSSAPPLILTCSADKKQIKDKSHVKMGKVKIESETSEKKKSTLPPFDDIVD
PNDSDVEENISSKSDSEQPSPASSSSSSSSSFTPSQTRQQGPLRSIMKDLHSDDNEEESD
EVEDNDNDSEMERPVNRGGSRSRRVSLSDGSDSESSSASSPLHHEPPPPLLKTNNNQILE
VKSPIKQSKSDKQIKNGECDKAYLDELVELHRRLMTLRERHILQQIVNLIEETGHFHITN
TTFDFDLCSLDKTTVRKLQSYLE
TSGTS
Sequence length 568
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Viral life cycle - HIV-1
Transcriptional misregulation in cancer
  Formation of RNA Pol II elongation complex
RNA Polymerase II Pre-transcription Events
RNA Polymerase II Transcription Elongation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 18474298
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 16001262, 27282883, 29649994, 9331569
★☆☆☆☆
Found in Text Mining only
Acute Megakaryocytic Leukemias Megakaryocytic Leukemia BEFREE 26215111
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 20395514, 28595195, 28871137, 8414510
★☆☆☆☆
Found in Text Mining only
Acute myeloid leukemia with t(9;11)(p22;q23) Myeloid Leukemia With T(9;11)(P22;Q23) Orphanet
★☆☆☆☆
Found in Text Mining only
Acute myeloid leukemia, 11q23 abnormalities Myeloid Leukemia, 11q23 Abnormalities BEFREE 20395514
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 9331569
★☆☆☆☆
Found in Text Mining only
Asthma Asthma GWASCAT_DG 26083242
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder PSYGENET_DG 20874815
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Childhood Acute Lymphoblastic Leukemia Lymphoblastic Leukemia BEFREE 25843568, 9331569
★☆☆☆☆
Found in Text Mining only