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 |
|
Sequence length |
559 |
Interactions |
View interactions
|
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, 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 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, rs122453121, rs869025310, rs121907903, rs1131690795, rs1554945033, rs1423753702, rs1556297749, rs1569392947, rs1569408743, rs1603240717, rs1602581162, rs771527206, rs2071072322 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 |
Neoplasms Second Primary |
Associate
|
21239865 |
Polycystic Ovary Syndrome |
Associate
|
37140276 |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
21239865, 21953510, 35409252, 8639852 |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
Stimulate
|
28572162 |
Wilms Tumor |
Associate
|
26635203, 28825729 |
|