| Type | Description |
|---|---|
| Definition | neurofibromin 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-04-17 13:14:00 | The GTPase-activating protein-related domain of neurofibromin interacts with MC1R and regulates pigmentation-mediated signaling in human melanocytes. | 33187641 |
| 2021-03-20 13:31:00 | Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients. | 32575496 |
| 2021-03-20 13:26:00 | New and the Development of Targeted Therapies for the Treatment of Neurofibromatosis Type 1-Associated Malignant Peripheral Nerve Sheath Tumors. | 32353955 |
| 2021-03-13 13:26:00 | Genomics of MPNST (GeM) Consortium: Rationale and Study Design for Multi-Omic Characterization of NF1-Associated and Sporadic MPNSTs. | 32252413 |
| 2021-02-20 13:32:00 | Translating current basic research into future therapies for neurofibromatosis type 1. | 32439933 |
| Type | IDs |
|---|---|
| Synonymous | NFNS, VRNF, WSS |
| Gene |
UniProtKB-ID:
NF1_HUMAN
UniprotKB:
P21359
UniParc:
UPI000006E48B,
UPI000002AEF8,
UPI0003D19F5C,
UPI000002AEFA,
UPI000012FFAE,
UPI000002AEF9
EMBL:
M38107,
U17684,
M60915,
U17662,
AC138207,
M61213,
D10490,
U17676,
M60496,
AY796305,
U17680,
U17689,
U17686,
M38106,
Y07853,
U17673,
U17668,
U17667,
U17687,
U17682,
D42072,
U17688,
AC004222,
S51751,
AC134669,
AC079915,
U17683,
AC139072,
U17681,
AH000834,
CH471147,
U17659,
U17685,
U17677,
U17656,
M82814,
D12625,
M89914,
AC135724,
U17690
Ensembl:
ENSG00000196712
KO:
hsa:4763
|
| Nucleutide sequences |
EMBL-CDS:
AAA74897.1,
AAB48380.1,
AAA59922.1,
AAB48375.1,
EAW80275.1,
AAB48378.1,
BAA02150.1,
AAA18483.1,
AAB48377.1,
AAA59928.1,
AAB24636.1,
BAA07669.1,
AAB48374.1,
AAB48376.1,
AAB48373.1,
AAV50004.1,
AAA59924.1,
CAA69179.1,
EAW80272.1,
AAB59558.1,
AAA59921.1,
AAB48379.1,
AAA59925.1,
AAA59923.1,
BAA01371.1
Ensembl_TRS:
ENST00000356175,
ENST00000358273,
ENST00000487476,
ENST00000431387
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000491589,
ENSP00000351015,
ENSP00000348498,
ENSP00000412921
RefSeq:
NP_000258.1,
NP_001035957.1,
NP_001121619.1
|
| Others |
UniRef100:
UniRef100_P21359
UniRef90:
UniRef90_P21359
UniRef50:
UniRef50_P21359
UniGene:
Hs.113577
CCDS:
CCDS11264.1,
CCDS45645.1,
CCDS42292.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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