MLLT1 (MLLT1 super elongation complex subunit) - Rat Genome Database

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Gene: MLLT1 (MLLT1 super elongation complex subunit) Homo sapiens
Analyze
Symbol: MLLT1
Name: MLLT1 super elongation complex subunit
RGD ID: 1345161
HGNC Page HGNC:7134
Description: Predicted to enable chromatin binding activity and lysine-acetylated histone binding activity. Predicted to be involved in positive regulation of DNA-templated transcription. Located in cytosol; fibrillar center; and nucleoplasm. Part of transcription elongation factor complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: CTC-503J8.6; ENL; ENL/MLL fusion; LTG19; MLLT1, super elongation complex subunit; MLLT1/MLL fusion; myeloid/lymphoid or mixed-lineage leukemia; myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog); myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog), translocated to, 1; myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1; YEATS domain-containing protein 1; YEATS1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38196,210,381 - 6,279,975 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl196,210,381 - 6,279,975 (-)EnsemblGRCh38hg38GRCh38
GRCh37196,210,392 - 6,279,986 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36196,161,392 - 6,230,959 (-)NCBINCBI36Build 36hg18NCBI36
Build 34196,163,965 - 6,230,959NCBI
Celera196,149,173 - 6,218,734 (-)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef195,969,364 - 6,038,974 (-)NCBIHuRef
CHM1_1196,209,972 - 6,279,567 (-)NCBICHM1_1
T2T-CHM13v2.0196,198,560 - 6,268,171 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Hypertelorism  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. The super elongation complex (SEC) family in transcriptional control. Luo Z, etal., Nat Rev Mol Cell Biol. 2012 Sep;13(9):543-7. doi: 10.1038/nrm3417. Epub 2012 Aug 16.
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1423624   PMID:7991593   PMID:8080983   PMID:8378076   PMID:10995463   PMID:11313972   PMID:11526240   PMID:12477932   PMID:12665591   PMID:15856011   PMID:16433901   PMID:17081983  
PMID:17252016   PMID:18029348   PMID:18829457   PMID:18829459   PMID:19274049   PMID:19956800   PMID:20113834   PMID:20153263   PMID:20203130   PMID:20379614   PMID:20431927   PMID:20471948  
PMID:20471949   PMID:20854876   PMID:21030982   PMID:21360054   PMID:21653829   PMID:21729782   PMID:21873227   PMID:21873635   PMID:21953510   PMID:21964340   PMID:22190034   PMID:22195968  
PMID:22355797   PMID:22483617   PMID:22567366   PMID:23145062   PMID:23251033   PMID:23455922   PMID:23518577   PMID:23602568   PMID:23623499   PMID:24367103   PMID:25456127   PMID:25481096  
PMID:25509985   PMID:25921070   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26635203   PMID:26972000   PMID:27505670   PMID:27684187   PMID:28241141   PMID:28514442   PMID:28533407  
PMID:29117863   PMID:29509190   PMID:29568061   PMID:29676528   PMID:30021884   PMID:30066088   PMID:30804502   PMID:31010829   PMID:31405949   PMID:31527615   PMID:31753913   PMID:32296183  
PMID:33596420   PMID:33749253   PMID:33961781   PMID:34079125   PMID:34174329   PMID:34732716   PMID:34853079   PMID:35140242   PMID:35748872   PMID:35831314   PMID:36215168   PMID:36373674  
PMID:36435883   PMID:36735043   PMID:36736316   PMID:37071664  


Genomics

Comparative Map Data
MLLT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38196,210,381 - 6,279,975 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl196,210,381 - 6,279,975 (-)EnsemblGRCh38hg38GRCh38
GRCh37196,210,392 - 6,279,986 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36196,161,392 - 6,230,959 (-)NCBINCBI36Build 36hg18NCBI36
Build 34196,163,965 - 6,230,959NCBI
Celera196,149,173 - 6,218,734 (-)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef195,969,364 - 6,038,974 (-)NCBIHuRef
CHM1_1196,209,972 - 6,279,567 (-)NCBICHM1_1
T2T-CHM13v2.0196,198,560 - 6,268,171 (-)NCBIT2T-CHM13v2.0
Mllt1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391757,199,611 - 57,242,497 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1757,199,611 - 57,242,415 (-)EnsemblGRCm39 Ensembl
GRCm381756,892,608 - 56,935,509 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1756,892,611 - 56,935,415 (-)EnsemblGRCm38mm10GRCm38
MGSCv371757,032,034 - 57,074,811 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361756,577,735 - 56,620,512 (-)NCBIMGSCv36mm8
Celera1761,237,292 - 61,280,070 (-)NCBICelera
Cytogenetic Map17DNCBI
cM Map1729.56NCBI
Mllt1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr891,818,204 - 1,863,091 (-)NCBIGRCr8
mRatBN7.291,731,077 - 1,775,985 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl91,731,080 - 1,775,970 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx92,164,990 - 2,209,816 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.097,514,684 - 7,559,510 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.096,470,184 - 6,515,010 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0910,110,389 - 10,155,305 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl910,110,389 - 10,155,302 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.099,110,342 - 9,154,498 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera96,741,249 - 6,786,040 (+)NCBICelera
Cytogenetic Map9q11NCBI
Mllt1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554953,289,641 - 3,336,509 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554953,289,644 - 3,336,455 (+)NCBIChiLan1.0ChiLan1.0
MLLT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22010,611,270 - 10,680,997 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1199,837,231 - 9,906,921 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0195,231,481 - 5,301,160 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1196,156,365 - 6,224,043 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl196,156,365 - 6,216,779 (-)Ensemblpanpan1.1panPan2
MLLT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12053,844,972 - 53,913,753 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2053,779,802 - 53,913,651 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2053,592,802 - 53,659,964 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02054,500,058 - 54,567,226 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2054,500,058 - 54,570,642 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12053,566,637 - 53,633,779 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02054,015,551 - 54,082,695 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02054,245,032 - 54,312,120 (+)NCBIUU_Cfam_GSD_1.0
Mllt1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118214,156,251 - 214,213,547 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365883,619,493 - 3,669,854 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365883,619,480 - 3,678,532 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MLLT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl272,781,121 - 72,847,685 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1272,780,950 - 72,847,694 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2273,345,660 - 73,409,227 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MLLT1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.165,835,483 - 5,913,096 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl65,834,660 - 5,913,119 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660812,116,213 - 2,194,227 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mllt1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248284,093,502 - 4,110,350 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248284,055,244 - 4,110,246 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MLLT1
18 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3 copy number gain See cases [RCV000052879] Chr19:1972245..9648879 [GRCh38]
Chr19:1972244..9759555 [GRCh37]
Chr19:1923244..9620555 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:4039158-9176125)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|See cases [RCV000052881] Chr19:4039158..9176125 [GRCh38]
Chr19:4039156..9286801 [GRCh37]
Chr19:3990156..9147801 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3 copy number gain See cases [RCV000052882] Chr19:4934885..6501642 [GRCh38]
Chr19:4934897..6501653 [GRCh37]
Chr19:4885897..6452653 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:5905175-6916287)x3 copy number gain See cases [RCV000139338] Chr19:5905175..6916287 [GRCh38]
Chr19:5905186..6916298 [GRCh37]
Chr19:5856186..6867298 [NCBI36]
Chr19:19p13.3-13.2		 uncertain significance
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3		 pathogenic
NM_005934.4(MLLT1):c.1418G>A (p.Arg473Gln) single nucleotide variant Hypertelorism [RCV000491445] Chr19:6213787 [GRCh38]
Chr19:6213798 [GRCh37]
Chr19:19p13.3		 likely pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3 copy number gain not provided [RCV000684096] Chr19:3120160..9732820 [GRCh37]
Chr19:19p13.3-13.2		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_005934.4(MLLT1):c.689C>T (p.Ser230Leu) single nucleotide variant not provided [RCV000891629] Chr19:6222542 [GRCh38]
Chr19:6222553 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:5949772-6699729)x3 copy number gain not provided [RCV001007028] Chr19:5949772..6699729 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:6246138-6823741)x3 copy number gain not provided [RCV001007029] Chr19:6246138..6823741 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:6096399-6699729)x3 copy number gain not provided [RCV001259930] Chr19:6096399..6699729 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_005934.4(MLLT1):c.1630G>A (p.Glu544Lys) single nucleotide variant not specified [RCV004320488] Chr19:6213092 [GRCh38]
Chr19:6213103 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_005934.4(MLLT1):c.1345G>A (p.Asp449Asn) single nucleotide variant not specified [RCV004200788] Chr19:6214001 [GRCh38]
Chr19:6214012 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_005934.4(MLLT1):c.938G>C (p.Gly313Ala) single nucleotide variant not specified [RCV004212467] Chr19:6222293 [GRCh38]
Chr19:6222304 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_005934.4(MLLT1):c.1057G>A (p.Ala353Thr) single nucleotide variant not specified [RCV004102587] Chr19:6222174 [GRCh38]
Chr19:6222185 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_005934.4(MLLT1):c.1364G>A (p.Arg455His) single nucleotide variant not specified [RCV004275318] Chr19:6213982 [GRCh38]
Chr19:6213993 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_005934.4(MLLT1):c.469G>A (p.Asp157Asn) single nucleotide variant not specified [RCV004325935] Chr19:6227054 [GRCh38]
Chr19:6227065 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_005934.4(MLLT1):c.925C>T (p.Arg309Trp) single nucleotide variant not specified [RCV004357944] Chr19:6222306 [GRCh38]
Chr19:6222317 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_005934.4(MLLT1):c.886A>G (p.Ser296Gly) single nucleotide variant not specified [RCV004361613] Chr19:6222345 [GRCh38]
Chr19:6222356 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_005934.4(MLLT1):c.449C>A (p.Thr150Lys) single nucleotide variant not specified [RCV004365442] Chr19:6227074 [GRCh38]
Chr19:6227085 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3 copy number gain not provided [RCV003485190] Chr19:260912..7246777 [GRCh37]
Chr19:19p13.3-13.2		 pathogenic
NM_005934.4(MLLT1):c.1643G>A (p.Arg548His) single nucleotide variant not provided [RCV003421771] Chr19:6213079 [GRCh38]
Chr19:6213090 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_005934.4(MLLT1):c.1103A>C (p.Lys368Thr) single nucleotide variant not specified [RCV004499088] Chr19:6222128 [GRCh38]
Chr19:6222139 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_005934.4(MLLT1):c.554A>G (p.Asn185Ser) single nucleotide variant not specified [RCV004499320] Chr19:6222677 [GRCh38]
Chr19:6222688 [GRCh37]
Chr19:19p13.3		 likely benign
NM_005934.4(MLLT1):c.1460A>G (p.Lys487Arg) single nucleotide variant not specified [RCV004499226] Chr19:6213745 [GRCh38]
Chr19:6213756 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_005934.4(MLLT1):c.860C>T (p.Pro287Leu) single nucleotide variant not specified [RCV004499352] Chr19:6222371 [GRCh38]
Chr19:6222382 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_005934.4(MLLT1):c.1426C>T (p.Pro476Ser) single nucleotide variant not specified [RCV004499196] Chr19:6213779 [GRCh38]
Chr19:6213790 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_005934.4(MLLT1):c.974C>T (p.Ser325Leu) single nucleotide variant not specified [RCV004501458] Chr19:6222257 [GRCh38]
Chr19:6222268 [GRCh37]
Chr19:19p13.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:922
Count of miRNA genes:540
Interacting mature miRNAs:584
Transcripts:ENST00000252674, ENST00000585588
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
WI-20279  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37196,210,488 - 6,210,737UniSTSGRCh37
Build 36196,161,488 - 6,161,737RGDNCBI36
Celera196,149,269 - 6,149,518RGD
Cytogenetic Map19p13.3UniSTS
HuRef195,969,460 - 5,969,709UniSTS
GeneMap99-GB4 RH Map1933.56UniSTS
Whitehead-RH Map1922.1UniSTS
UniSTS:486265  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37196,210,701 - 6,212,393UniSTSGRCh37
Celera196,149,482 - 6,151,177UniSTS
HuRef195,969,673 - 5,971,368UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2428 2816 1641 545 1832 387 4348 2111 3668 361 1427 1598 171 1204 2781 4
Low 11 175 85 79 116 78 9 86 66 57 33 15 4 1 7 2 2
Below cutoff 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_005934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC011471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF373587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL365410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC084564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D14539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ224342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L04285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000252674   ⟹   ENSP00000252674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,210,381 - 6,279,975 (-)Ensembl
RefSeq Acc Id: ENST00000585588
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,213,120 - 6,216,968 (-)Ensembl
RefSeq Acc Id: ENST00000587473
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,210,689 - 6,211,476 (-)Ensembl
RefSeq Acc Id: NM_005934   ⟹   NP_005925
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38196,210,381 - 6,279,975 (-)NCBI
GRCh37196,210,392 - 6,279,959 (-)ENTREZGENE
GRCh37196,210,392 - 6,279,959 (-)NCBI
Build 36196,161,392 - 6,230,959 (-)NCBI Archive
HuRef195,969,364 - 6,038,974 (-)ENTREZGENE
CHM1_1196,209,972 - 6,279,567 (-)NCBI
T2T-CHM13v2.0196,198,560 - 6,268,171 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011528021   ⟹   XP_011526323
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38196,210,381 - 6,272,361 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011528022   ⟹   XP_011526324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38196,210,381 - 6,272,021 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011528023   ⟹   XP_011526325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38196,210,381 - 6,272,361 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017026819   ⟹   XP_016882308
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38196,210,381 - 6,271,763 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047438846   ⟹   XP_047294802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38196,210,381 - 6,279,975 (-)NCBI
RefSeq Acc Id: XM_054321042   ⟹   XP_054177017
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0196,198,560 - 6,260,557 (-)NCBI
RefSeq Acc Id: XM_054321043   ⟹   XP_054177018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0196,198,560 - 6,260,217 (-)NCBI
RefSeq Acc Id: XM_054321044   ⟹   XP_054177019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0196,198,560 - 6,260,557 (-)NCBI
RefSeq Acc Id: XM_054321045   ⟹   XP_054177020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0196,198,560 - 6,259,962 (-)NCBI
RefSeq Acc Id: XM_054321046   ⟹   XP_054177021
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0196,198,560 - 6,268,171 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_005925   ⟸   NM_005934
- UniProtKB: Q14768 (UniProtKB/Swiss-Prot),   Q03111 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011526325   ⟸   XM_011528023
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011526323   ⟸   XM_011528021
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011526324   ⟸   XM_011528022
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016882308   ⟸   XM_017026819
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000252674   ⟸   ENST00000252674
RefSeq Acc Id: XP_047294802   ⟸   XM_047438846
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054177021   ⟸   XM_054321046
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054177019   ⟸   XM_054321044
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054177017   ⟸   XM_054321042
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054177018   ⟸   XM_054321043
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054177020   ⟸   XM_054321045
- Peptide Label: isoform X4
Protein Domains
YEATS

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q03111-F1-model_v2 AlphaFold Q03111 1-559 view protein structure

Promoters
RGD ID:6795810
Promoter ID:HG_KWN:28644
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_005934
Position:
Human AssemblyChrPosition (strand)Source
Build 36196,230,799 - 6,231,299 (-)MPROMDB
RGD ID:7238199
Promoter ID:EPDNEW_H24845
Type:initiation region
Name:MLLT1_1
Description:MLLT1, super elongation complex subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38196,279,955 - 6,280,015EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7134 AgrOrtholog
COSMIC MLLT1 COSMIC
Ensembl Genes ENSG00000130382 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000252674 ENTREZGENE
  ENST00000252674.9 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1270.290 UniProtKB/Swiss-Prot
  2.60.40.1970 UniProtKB/Swiss-Prot
GTEx ENSG00000130382 GTEx
HGNC ID HGNC:7134 ENTREZGENE
Human Proteome Map MLLT1 Human Proteome Map
InterPro AF-9_AHD UniProtKB/Swiss-Prot
  YEAST_sf UniProtKB/Swiss-Prot
  YEATS UniProtKB/Swiss-Prot
KEGG Report hsa:4298 UniProtKB/Swiss-Prot
NCBI Gene 4298 ENTREZGENE
OMIM 159556 OMIM
PANTHER AHD DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot
  PROTEIN ENL UniProtKB/Swiss-Prot
Pfam AHD UniProtKB/Swiss-Prot
  YEATS UniProtKB/Swiss-Prot
PharmGKB PA30848 PharmGKB
PROSITE YEATS UniProtKB/Swiss-Prot
UniProt ENL_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q14768 ENTREZGENE
UniProt Secondary Q14768 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 MLLT1  MLLT1 super elongation complex subunit    MLLT1, super elongation complex subunit  Symbol and/or name change 5135510 APPROVED
2016-06-21 MLLT1  MLLT1, super elongation complex subunit    myeloid/lymphoid or mixed-lineage leukemia; translocated to, 1  Symbol and/or name change 5135510 APPROVED
2015-06-30 MLLT1  myeloid/lymphoid or mixed-lineage leukemia; translocated to, 1    myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1  Symbol and/or name change 5135510 APPROVED