| Gene Symbol |
NF1
|
| Entrez Gene |
4763
|
| Alt Symbol |
NFNS, VRNF, WSS
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
neurofibromin 1
|
| Other Description |
neurofibromatosis-related protein NF-1|neurofibromin
|
| Swissprots |
P21359 Q14931 Q9UMK3 Q14930 Q14284 O00662
|
| Accessions |
AAA56765 AAB26693 AAB26694 AAB48373 AAB48374 AAB48375 AAB48376 AAB48377 AAB48378 AAB48379 AAB48380 AAD13890 AAD14922 AAS67035 AAV50004 BAD98998 BAD98999 CAA52021 CAA69179 EAW80267 EAW80268 EAW80269 EAW80270 EAW80271 EAW80272 EAW80273 EAW80274 EAW80275 P21359 AB209336 BAD92573 AF055023 AF086346 AK024873 AK026658 AK289936 BAF82625 AK301970 BAG63383 AK302063 BAG63453 BC144643 BP271334 BX391799 BX537850 CAD97858 CN415204 D10490 BAA01371 D12625 BAA02150 D42072 BAA07669 DA299151 DB094344 M38106 AAA74897 M38107 AAB59558 M60496 AAA59928 M60915 AAA59921 M61213 AAA59923 M82814 AAA59924 M89914 AAA59925 S51751 AAB24636 XM_005257983 XP_005258040 XM_005257984 XP_005258041 XM_006721922 XP_006721985 XM_006721923 XP_006721986 XM_006721924 XP_006721987 XM_006721925 XP_006721988 XM_006721926 XP_006721989 XM_006721927 XP_006721990 XM_006721928 XP_006721991 XM_011524852 XP_011523154 XM_011524853 XP_011523155 XM_011524854 XP_011523156 XM_011524855 XP_011523157 XM_011524856 XP_011523158 XM_011524857 XP_011523159 NM_000267 NP_000258 NM_001042492 NP_001035957 NM_001128147 NP_001121619
|
| Function |
Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity. {ECO:0000269|PubMed:2121371, ECO:0000269|PubMed:8417346}.
|
| Subcellular Location |
Nucleus {ECO:0000269|PubMed:14988005}. Nucleus, nucleolus {ECO:0000269|PubMed:14988005}.
|
| Tissue Specificity |
Detected in brain, peripheral nerve, lung, colon and muscle. {ECO:0000269|PubMed:8417346}.
|
| Top Pathways |
MAPK signaling pathway
|