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MLLT1 (MLLT1 super elongation complex subunit)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4298
Gene nameGene Name - the full gene name approved by the HGNC.
MLLT1 super elongation complex subunit
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
MLLT1
SynonymsGene synonyms aliases
ENL, LTG19, YEATS1
ChromosomeChromosome number
19
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.3
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs749203329 C>T Likely-pathogenic Coding sequence variant, missense variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
KPRRVCKEPPYKVEESGYAGFIMPIEVHFKNKEEPRKVCFTYDLFLNLEGNPPVNHLRCE
KLTFNNPTTEFRYKLLRAGGVMVMPEGADTVSRPSPDYPMLPTIPLSAFSDPKKTKPSHG
SKDANKESSKTSKPHKVTKEHRERPRKDSESKSSSKELEREQAKSSKDTSRKLGEGRLPK
EEKAPPPKAAFKEPKMALKETKLESTSPKGGPPPPPPPPPRASSKRPATADSPKPSAKKQ
KKSSSKGSRSAPGTSPRTSSSSSFSDKKPAKDKSSTRGEKVKAESEPREAKKALEVEESN
SEDEASFKSESAQSSPSNSSSSSDSSSDSDFEPSQNHSQGPLRSMVEDLQSEESDEDDSS
SGEEAAGKTNPGRDSRLSFSDSESDNSADSSLPSREPPPPQKPPPPNSKVSGRRSPESCS
KPEKILKKGTYDKAYTDELVELHRRLMALRERNVLQQIVNLIEETGHFNVTNTTFDFDLF
SLDETTVRKLQSCLEAVAT
Sequence length 559
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
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
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
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, rs122453121, rs869025310, rs869025311, rs869025312, rs121907903, rs1131690795, rs1554945033, rs1423753702, rs1556297749, rs1569392947, rs1569408743, rs1603240717, rs1602581162, rs771527206, rs2071072322 28825729
Unknown
Disease name Disease term dbSNP ID References
Cerebral atrophy Cerebral atrophy

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