Gene Gene information from NCBI Gene database.
Entrez ID 4298
Gene name MLLT1 super elongation complex subunit
Gene symbol MLLT1
Synonyms (NCBI Gene)
ENLLTG19YEATS1
Chromosome 19
Chromosome location 19p13.3
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs749203329 C>T Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
517
miRTarBase ID miRNA Experiments Reference
MIRT001617 hsa-let-7b-5p pSILAC 18668040
MIRT001442 hsa-miR-16-5p Proteomics 18668040
MIRT001617 hsa-let-7b-5p Proteomics;Other 18668040
MIRT041863 hsa-miR-484 CLASH 23622248
MIRT711802 hsa-miR-548a-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0001650 Component Fibrillar center IDA
GO:0003682 Function Chromatin binding IBA
GO:0005515 Function Protein binding IPI 20153263, 20203130, 21729782, 32296183, 33961781
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
159556 7134 ENSG00000130382
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q03111
Protein name Protein ENL (YEATS domain-containing protein 1)
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 5J9S , 6HPW , 6HPX , 6HPY , 6HPZ , 6HQ0 , 6HT0 , 6HT1 , 6T1I , 6T1J , 6T1L , 6T1M , 6T1N , 6T1O , 7B0T , 7B10 , 7E74 , 7E7A , 7E7C , 7X88 , 7X8B , 7X8F , 7X8G , 8PJI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03366 YEATS 29 110 YEATS family Domain
PF17793 AHD 495 555 ANC1 homology domain (AHD) Domain
Sequence
MDNQCTVQVRLELGHRAQLRKKPTTEGFTHDWMVFVRGPEQCDIQHFVEKVVFWLHDSFP
KPRRVCKEPPYKVEESGYAGFIMPIEVHFKNKEEPRKVCFTYDLFLNLEG
NPPVNHLRCE
KLTFNNPTTEFRYKLLRAGGVMVMPEGADTVSRPSPDYPMLPTIPLSAFSDPKKTKPSHG
SKDANKESSKTSKPHKVTKEHRERPRKDSESKSSSKELEREQAKSSKDTSRKLGEGRLPK
EEKAPPPKAAFKEPKMALKETKLESTSPKGGPPPPPPPPPRASSKRPATADSPKPSAKKQ
KKSSSKGSRSAPGTSPRTSSSSSFSDKKPAKDKSSTRGEKVKAESEPREAKKALEVEESN
SEDEASFKSESAQSSPSNSSSSSDSSSDSDFEPSQNHSQGPLRSMVEDLQSEESDEDDSS
SGEEAAGKTNPGRDSRLSFSDSESDNSADSSLPSREPPPPQKPPPPNSKVSGRRSPESCS
KPEKILKKGTYDKAYTDELVELHRRLMALRERNVLQQIVNLIEETGHFNVTNTTFDFDLF
SLDETTVRKLQSCLE
AVAT
Sequence length 559
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.).
3
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
CEREBRAL ATROPHY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
WILMS TUMOR CTD
★★☆☆☆
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 12665591, 17145626, 28241139, 30374167, 8378328, 8639852
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 11526240, 19411627, 20113834, 29641322, 8639852, 8640717
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 30974445
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 23838347
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 11526240, 29641322, 8639852
★☆☆☆☆
Found in Text Mining only
Bilateral Wilms Tumor Wilms tumor CTD_human_DG 28825729
★☆☆☆☆
Found in Text Mining only
Brain Ischemia Brain ischemia Pubtator 21239865 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 21239865 Associate
★☆☆☆☆
Found in Text Mining only
Cerebral atrophy Cerebral Atrophy CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Childhood Acute Lymphoblastic Leukemia Lymphoblastic Leukemia BEFREE 11526240, 29641322, 8639852
★☆☆☆☆
Found in Text Mining only