Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4298
Gene name Gene Name - the full gene name approved by the HGNC.
MLLT1 super elongation complex subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MLLT1
Synonyms (NCBI Gene) Gene synonyms aliases
ENL, LTG19, YEATS1
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.3
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs749203329 C>T Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001650 Component Fibrillar center IDA
GO:0005515 Function Protein binding IPI 20153263, 20203130, 21729782, 32296183
GO:0005654 Component Nucleoplasm IDA
GO:0005654 Component Nucleoplasm TAS
GO:0005829 Component Cytosol IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
159556 7134 ENSG00000130382
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Infantile spasms Infantile Spasm rs387906686, rs1553579488, rs1553567561
Nephroblastoma Nephroblastoma rs1553551874, rs1555913934, rs769116796 28825729
Wilms tumor Bilateral Wilms Tumor rs121918261, rs2116574924, rs587776573, rs587776574, rs121907900, rs121907901, rs587776576, rs121907909, rs121907906, rs587776577, rs121907911, rs80359604, rs80358785, rs104894855, rs122453119
View all (13 more)
28825729
Associations from Text Mining
Disease Name Relationship Type References
Brain Ischemia Associate 21239865
Breast Neoplasms Associate 21239865
Colorectal Neoplasms Associate 31876540
Job Syndrome Associate 21239865
Leukemia Associate 12665591, 16102112, 20471949, 21953510, 28572162, 37031220, 8180386
Leukemia B Cell Associate 31195686
Leukemia Biphenotypic Acute Associate 20513125, 31195686, 34187895
Leukemia Myeloid Stimulate 28572162
Leukemia Myeloid Acute Associate 11526240, 12665591, 20513125, 23091311, 29437725, 31876540, 34853079, 35409252, 36053276, 8639852, 8668146
Neoplasms Associate 26635203, 35617957, 36272410