NF1
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Homo sapiens |
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NF1 is differentially expressed in 367 experiments: 180 organism parts: liver, bone marrow, ... (178 more);, 275 disease states: normal, breast carcinoma, ... (273 more);, 114 cell types 502 cell lines 51 compound treatments and 90 other conditions. |
| Orthologs |
NF1
(Bos taurus)
IRA1
(Saccharomyces cerevisiae)
NF1 (2 of 2)
(Danio rerio)
ENSCING00000003511
(Ciona intestinalis)
Nf1
(Mus musculus)
nf1a
(Danio rerio)
IRA2
(Saccharomyces cerevisiae)
ENSCING00000017301
(Ciona intestinalis)
NF1_RAT
(Rattus norvegicus)
ENSCING00000017469
(Ciona intestinalis)
NF1
(Gallus gallus)
Nf1
(Drosophila melanogaster)
nf1
(Xenopus laevis)
ENSXETG00000034345
(Xenopus laevis)
NF1
(Canis familiaris)
(Compare orthologs)
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| Gene Ontology Term |
Ras GTPase activator activity, protein binding, axon, visual learning, cytoplasm, positive regulation of adenylate cyclase activity, regulation of cell proliferation, intracellular, regulation of cell-matrix adhesion, negative regulation of cell proliferation, negative regulation of protein kinase activity, wound healing, MAPKKK cascade, negative regulation of Ras protein signal transduction, response to hypoxia, positive regulation of apoptosis, cell communication, negative regulation of neuroblast proliferation, GTPase activator activity, actin cytoskeleton organization, Ras protein signal transduction, nucleus, heart development, negative regulation of cell migration, regulation of small GTPase mediated signal transduction, dendrite, negative regulation of transcription factor import into nucleus, negative regulation of MAP kinase activity, negative regulation of MAPKKK cascade, extracellular matrix organization, negative regulation of Rac protein signal transduction, brain development, skeletal muscle tissue development, signal transduction, peripheral nervous system development, regulation of blood vessel endothelial cell migration, forebrain morphogenesis, regulation of angiogenesis, negative regulation of fibroblast proliferation, negative regulation of oligodendrocyte differentiation, regulation of long-term neuronal synaptic plasticity, cognition, negative regulation of angiogenesis, collagen fibril organization, adrenal gland development, regulation of Ras GTPase activity, spinal cord development, cerebral cortex development, camera-type eye morphogenesis, negative regulation of osteoclast differentiation, positive regulation of Ras GTPase activity, osteoblast differentiation, negative regulation of neurotransmitter secretion, pigmentation, metanephros development, regulation of glial cell differentiation, Schwann cell development, smooth muscle tissue development, regulation of bone resorption, sympathetic nervous system development, neural tube development, negative regulation of astrocyte differentiation, artery morphogenesis, regulation of synaptic transmission, GABAergic, liver development, positive regulation of endothelial cell proliferation, positive regulation of neuron apoptosis, negative regulation of cell-matrix adhesion, forebrain astrocyte development, negative regulation of endothelial cell proliferation, myelination in peripheral nervous system, intrinsic to internal side of plasma membrane, phosphatidylinositol 3-kinase cascade |
| Gene Ontology ID |
GO:0008285, GO:0007154, GO:0007165, GO:0007265, GO:0008542, GO:0007420, GO:0007422, GO:0007406, GO:0007507, GO:0007519, GO:0051056, GO:0030425, GO:0030424, GO:0005622, GO:0005515, GO:0005737, GO:0005634, GO:0042992, GO:0005096, GO:0005099, GO:0043065, GO:0001952, GO:0006469, GO:0000165, GO:0045762, GO:0042127, GO:0042060, GO:0046580, GO:0001666, GO:0043407, GO:0043409, GO:0030198, GO:0030036, GO:0030336, GO:0035021, GO:0022011, GO:0016525, GO:0048853, GO:0048844, GO:0048715, GO:0048712, GO:0048745, GO:0048593, GO:0048485, GO:0014065, GO:0014044, GO:0048147, GO:0048169, GO:0001937, GO:0001938, GO:0001953, GO:0050890, GO:0045765, GO:0046929, GO:0045671, GO:0045685, GO:0001889, GO:0043525, GO:0043535, GO:0001656, GO:0001649, GO:0043473, GO:0021915, GO:0030199, GO:0021987, GO:0045124, GO:0021897, GO:0030325, GO:0021510, GO:0032228, GO:0032318, GO:0032320, GO:0031235 |
| Ensembl Family Description |
NEUROFIBROMIN NEUROFIBROMATOSIS RELATED NF 1 |
| InterPro ID |
IPR001251, IPR001936 |
| Ensembl Family |
ENSFM00250000001252 |
| InterPro Term |
RasGAP, CRAL-bd_TRIO_C |
| EMBL-Bank ID |
M60496, M89914, AK301970, AC138207, AB195812, AB195813, M60915, U17084, Y07853, U17673, U17676, U17677, U17668, U17667, U17662, U17656, U17659, U17690, U17680, U17682, U17681, U17688, U17687, U17689, U17684, U17683, U17686, U17685, D10490, AC134669, M61213, AY796305, S51751, D42072, D12625, CH471147, M82814, AC135724, M38116, M38115, M38114, M38113, M38112, M38111, M38110, M38107, M38106, M38109, M38108, AK302063, AC004222, AC139072, AC079915 |
| Ensembl Gene ID |
ENSG00000196712 |
| UniGene ID |
Hs.606512, Hs.604118, Hs.721732, Hs.447837, Hs.113577, Hs.597889, Hs.622370 |
| Ensembl Protein ID |
ENSP00000398991, ENSP00000389907, ENSP00000396481, ENSP00000351015, ENSP00000348498, ENSP00000412921 |
| Gene-Disease Assocation |
WATSON SYNDROME, NEUROFIBROMATOSIS, FAMILIAL SPINAL, COLORECTAL CANCER; CRC, JUVENILE MYELOMONOCYTIC LEUKEMIA; JMML, NEUROFIBROMATOSIS, TYPE I; NF1, NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS |
| RefSeq ID |
NM_001042492, NP_001121619, NM_001128147, NP_001035957, NP_000258, NM_000267 |
| UniProt Accession |
Q9UMU3, Q4W6X4, P21359, B4DXH1, B4DXP1, Q14931, E1P657 |
| Description |
neurofibromin 1 [Source:HGNC Symbol;Acc:7765] |
| Entrez Gene ID |
4763 |
| HGNC Symbol |
NF1 |
| Ensembl Transcript ID |
ENST00000495910, ENST00000487476, ENST00000493220, ENST00000431387, ENST00000444181, ENST00000417592, ENST00000471572, ENST00000358273, ENST00000356175, ENST00000490416, ENST00000468273, ENST00000489712, ENST00000466819, ENST00000456735, ENST00000479536, ENST00000479614 |
| Design Element |
Hs.113577.0.A1_3p_at, ENST00000431387, Hs.58220.0.S1_3p_at, ENST00000468273, M89914_s_at, 212676_at, g4557792_3p_a_at, D42072_at, ENST00000356175, 211094_s_at, 38289_r_at, ENST00000456735, g1060900_3p_at, 1236_s_at, g189159_3p_s_at, ENST00000490416, 62316_at, 961_at, Hs.58220.0.S2_3p_at, ENST00000487476, ENST00000466819, ENST00000495910, ENST00000471572, ENST00000489712, 211914_x_at, 35328_at, 75575_at, D12625_at, 212678_at, 940_g_at, 739_at, 204325_s_at, 211095_at, ENST00000444181, gnf1h07250_s_at, ENST00000479614, 204323_x_at, ENST00000358273, g219939_3p_x_at, 210631_at, g219939_3p_a_at, g189162_3p_a_at, ENST00000479536, ENST00000493220, ENST00000417592 |
| Search EB-eye |
ENSG00000196712
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