NLE1 (notchless homolog 1)
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Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
54475 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Notchless homolog 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
NLE1 |
SynonymsGene synonyms aliases
|
HUSSY7, NLE, Rsa4 |
ChromosomeChromosome number
|
17 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
17q12 |
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000027 |
Process |
Ribosomal large subunit assembly |
IBA |
21873635 |
GO:0001756 |
Process |
Somitogenesis |
IEA |
|
GO:0001822 |
Process |
Kidney development |
IEA |
|
GO:0001826 |
Process |
Inner cell mass cell differentiation |
IEA |
|
GO:0005654 |
Component |
Nucleoplasm |
IDA |
|
GO:0005730 |
Component |
Nucleolus |
IBA |
21873635 |
GO:0005730 |
Component |
Nucleolus |
IDA |
|
GO:0007219 |
Process |
Notch signaling pathway |
IBA |
21873635 |
GO:0045930 |
Process |
Negative regulation of mitotic cell cycle |
IEA |
|
GO:0048705 |
Process |
Skeletal system morphogenesis |
IEA |
|
GO:0061484 |
Process |
Hematopoietic stem cell homeostasis |
IEA |
|
GO:0090263 |
Process |
Positive regulation of canonical Wnt signaling pathway |
IEA |
|
GO:2001268 |
Process |
Negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway |
IEA |
|
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
Q9NVX2 |
Protein name |
Notchless protein homolog 1 |
Protein function |
Plays a role in regulating Notch activity. Plays a role in regulating the expression of CDKN1A and several members of the Wnt pathway, probably via its effects on Notch activity. Required during embryogenesis for inner mass cell survival (By sim |
PDB |
6WAJ
,
8FL0
,
8FL2
,
8FL3
,
8FL4
,
8INK
,
8IPD
,
8IPX
,
8IPY
,
8IR1
,
8IR3
,
8RL2
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF08154 |
NLE |
17 → 77 |
NLE (NUC135) domain |
Domain |
PF00400 |
WD40 |
104 → 142 |
WD domain, G-beta repeat |
Repeat |
PF00400 |
WD40 |
146 → 184 |
WD domain, G-beta repeat |
Repeat |
PF00400 |
WD40 |
189 → 232 |
WD domain, G-beta repeat |
Repeat |
PF00400 |
WD40 |
236 → 273 |
WD domain, G-beta repeat |
Repeat |
PF00400 |
WD40 |
362 → 400 |
WD domain, G-beta repeat |
Repeat |
PF00400 |
WD40 |
404 → 442 |
WD domain, G-beta repeat |
Repeat |
PF00400 |
WD40 |
446 → 484 |
WD domain, G-beta repeat |
Repeat |
|
Sequence |
|
Sequence length |
485 |
Interactions |
View interactions |
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Breast cancer |
Malignant neoplasm of breast |
rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243 |
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