NF1 (neurofibromin 1)

Gene Basic Information

Gene Basic Information

symbol
NF1
locus group
protein-coding gene
location
17q11.2
gene_family
-
alias symbol
-
alias name
neurofibromatosis|von Recklinghaus…
entrez id
4763
ensembl gene id
ENSG00000196712
ucsc gene id
uc002hgh.3
refseq accession
NM_000267
hgnc_id
HGNC:7765
approved reserved
1986-01-01

Chromosome Location

Chromosome Location

17q11.2

Gene Summary

Gene Summary

ChineseEnglish

This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008]

OMIM entry for NF1     Wikipedia entry for NF1

Gene Sequence

Gene Sequence

Nucleotide sequence of NF1:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MAAHRPVEWV QAVVSRFDEQ LPIKTGQQNT HTKVSTEHNK
41ECLINISKYK FSLVISGLTT ILKNVNNMRI FGEAAEKNLY
81 LSQLIILDT LEKCLAGQPK DTMRLDETML VKQLLPEICH
121FLHTCREGNQ HAAELRNSAS GVLFSLSCNN FNAVFSRIST
161R LQELTVCS EDNVDVHDIE LLQYINVDCA KLKRLLKETA
201FKFKALKKVA QLAVINSLEK AFWNWVENYP DEFTKLYQIP
241QT DMAECAE KLFDLVDGFA ESTKRKAAVW PLQIILLILC
281PEIIQDISKD VVDENNMNKK LFLDSLRKAL AGHGGSRQLT
321ESA AIACVK LCKASTYINW EDNSVIFLLV QSMVVDLKNL
361LFNPSKPFSR GSQPADVDLM IDCLVSCFRI SPHNNQHFKI
401CLAQ NSPST FHYVLVNSLH RIITNSALDW WPKIDAVYCH
441SVELRNMFGE TLHKAVQGCG AHPAIRMAPS LTFKEKVTSL
481KFKEK PTDL ETRSYKYLLL SMVKLIHADP KLLLCNPRKQ
521GPETQGSTAE LITGLVQLVP QSHMPEIAQE AMEALLVLHQ
561LDSIDL WNP DAPVETFWEI SSQMLFYICK KLTSHQMLSS
601TEILKWLREI LICRNKFLLK NKQADRSSCH FLLFYGVGCD
641IPSSGNT SQ MSMDHEELLR TPGASLRKGK GNSSMDSAAG
681CSGTPPICRQ AQTKLEVALY MFLWNPDTEA VLVAMSCFRH
721LCEEADIR C GVDEVSVHNL LPNYNTFMEF ASVSNMMSTG
761RAALQKRVMA LLRRIEHPTA GNTEAWEDTH AKWEQATKLI
801LNYPKAKME DGQAAESLHK TIVKRRMSHV SGGGSIDLSD
841TDSLQEWINM TGFLCALGGV CLQQRSNSGL ATYSPPMGPV
881SERKGSMISV MSSEGNADT PVSKFMDRLL SLMVCNHEKV
921GLQIRTNVKD LVGLELSPAL YPMLFNKLKN TISKFFDSQG
961QVLLTDTNTQ F VEQTIAIM KNLLDNHTEG SSEHLGQASI
1001ETMMLNLVRY VRVLGNMVHA IQIKTKLCQL VEVMMARRDD
1041LSFCQEMKFR NK MVEYLTD WVMGTSNQAA DDDVKCLTRD
1081LDQASMEAVV SLLAGLPLQP EEGDGVELME AKSQLFLKYF
1121TLFMNLLNDC SEV EDESAQ TGGRKRGMSR RLASLRHCTV
1161LAMSNLLNAN VDSGLMHSIG LGYHKDLQTR ATFMEVLTKI
1201LQQGTEFDTL AETV LADRF ERLVELVTMM GDQGELPIAM
1241ALANVVPCSQ WDELARVLVT LFDSRHLLYQ LLWNMFSKEV
1281ELADSMQTLF RGNSL ASKI MTFCFKVYGA TYLQKLLDPL
1321LRIVITSSDW QHVSFEVDPT RLEPSESLEE NQRNLLQMTE
1361KFFHAIISSS SEFPPQ LRS VCHCLYQATC HSLLNKATVK
1401EKKENKKSVV SQRFPQN
Structure predicted by AlphaFold DB(UniProt: P21359). Color indicates pLDDT confidence (dark blue = high, yellow/orange = low).

Gene Variants

Gene Variants

SNP variants of NF1:           Showing partial SNPs
rs7505       rs1129506       rs2070732       rs2342319       rs2525563       rs2854305       rs2854306       rs3785955       rs3785956       rs3837848       rs4794887       rs5819926       rs7222606       rs7226006       rs9894252       rs9913669       rs9915421      

Gene Expression

Gene Expression

Tissue expression of NF1:    [UniProt]

Gene expression across tissues

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
GACCTCACTTGCAACTTCC
59
TGTCGATTCCTTGATGAGGG
60
ATTAGTAAGACACTGGCAGC
58
ATTCAATACCTAGAATCAGGCC
58
GTAACAGTGGACGAACTCG
58
GAAGTGCTAGTTTGAAACTGC
58
CTTGGGCAGATTACAGATCTG
59
TTATTGATCCCAAGCCACCT
59
CTGTTTATACCAGGTGGTTAGC
59
ATAAATCTGAGGAACATGGCAC
59
GAATTGTGCAGAGTGTGGTG
59
ACTTTGCAGGTAAGATGTTTGG
59
TGAACTTCGGAATTCTGCCT
60
ATGCTGTTTCTGGTAGAAATGC
60
GGTGGTTGATCTTAAGAACCT
57
ATTAGATCCACATCTGCAGG
57
AACTTCGGAATTCTGCCTC
58
CAGTTAATTCCTGTAACCTGGT
58
ATGGGTGATCAAGGAGAACTC
60
TCGAGCTAGTTCATCCCAC
59

Transcription Factors

Transcription Factors

Transcription Factors
Target Gene
Interaction Type
PubMed References
CREB1
NF1
Unknown
10435592
CTCF
NF1
Unknown
21111075
FOXA1
NF1
Activation
8495744
GFI1
NF1
Unknown
14504408
IRF8
NF1
Activation
15371411
NF1
AFP
Repression
7549116
NF1
DDB1
Unknown
12527763
NF1
DDB2
Unknown
12527763
NF1
FOS
Activation
9562250
NF1
GNRH1
Unknown
15319450

Gene Ontology

Subcellular localization of NF1 (and its protein):

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • plasma membrane
  • cytoplasm
  • extracellular
  • golgi
  • vesicle
  • cytoskeleton
  • endoplasmic reticulum
  • nucleus
  • endosome
  • lysosome
  • mitochondrion

Gene Ontology (GO) terms for NF1:

GO ID
Protein
Source DB
GO:0005096
H0Y465 (UniProtKB)
IEA
GO:0007165
H0Y465 (UniProtKB)
IEA
GO:0043547
H0Y465 (UniProtKB)
IEA
GO:0005096
J3KRT8 (UniProtKB)
IEA
GO:0007165
J3KRT8 (UniProtKB)
IEA
GO:0043547
J3KRT8 (UniProtKB)
IEA
GO:0005096
J3KSB5 (UniProtKB)
IEA
GO:0007165
J3KSB5 (UniProtKB)
IEA
GO:0043547
J3KSB5 (UniProtKB)
IEA
GO:0005096
J3QQN8 (UniProtKB)
IEA
GO:0007165
J3QQN8 (UniProtKB)
IEA
GO:0043547
J3QQN8 (UniProtKB)
IEA
GO:0005096
J3QSG6 (UniProtKB)
IEA
GO:0043547
J3QSG6 (UniProtKB)
IEA
GO:0005096
K7ENT2 (UniProtKB)
IEA
GO:0043547
K7ENT2 (UniProtKB)
IEA
GO:0000165
P21359 (UniProtKB)
ISS
GO:0000165
P21359 (UniProtKB)
TAS
GO:0001649
P21359 (UniProtKB)
ISS
GO:0001656
P21359 (UniProtKB)
ISS
GO:0001666
P21359 (UniProtKB)
ISS
GO:0001889
P21359 (UniProtKB)
ISS
GO:0001937
P21359 (UniProtKB)
IMP
GO:0001937
P21359 (UniProtKB)
IMP
GO:0001938
P21359 (UniProtKB)
IEA
GO:0001952
P21359 (UniProtKB)
ISS
GO:0001953
P21359 (UniProtKB)
IEA
GO:0005096
P21359 (UniProtKB)
IDA
GO:0005096
P21359 (UniProtKB)
IDA
GO:0005096
P21359 (UniProtKB)
IDA
GO:0005515
P21359 (UniProtKB)
IPI
GO:0005515
P21359 (UniProtKB)
IPI
GO:0005515
P21359 (UniProtKB)
IPI
GO:0005634
P21359 (UniProtKB)
ISS
GO:0005730
P21359 (UniProtKB)
IEA
GO:0005737
P21359 (UniProtKB)
IBA
GO:0005737
P21359 (UniProtKB)
ISS
GO:0005829
P21359 (UniProtKB)
TAS
GO:0005829
P21359 (UniProtKB)
TAS
GO:0005829
P21359 (UniProtKB)
TAS
GO:0005829
P21359 (UniProtKB)
TAS
GO:0005829
P21359 (UniProtKB)
TAS
GO:0006469
P21359 (UniProtKB)
ISS
GO:0007154
P21359 (UniProtKB)
ISS
GO:0007265
P21359 (UniProtKB)
ISS
GO:0007406
P21359 (UniProtKB)
ISS
GO:0007420
P21359 (UniProtKB)
ISS
GO:0007422
P21359 (UniProtKB)
ISS
GO:0007507
P21359 (UniProtKB)
ISS
GO:0007519
P21359 (UniProtKB)
IEA
GO:0008429
P21359 (UniProtKB)
IDA
GO:0008542
P21359 (UniProtKB)
ISS
GO:0008625
P21359 (UniProtKB)
IEA
GO:0010468
P21359 (UniProtKB)
IEA
GO:0014044
P21359 (UniProtKB)
ISS
GO:0014065
P21359 (UniProtKB)
ISS
GO:0016020
P21359 (UniProtKB)
IDA
GO:0016525
P21359 (UniProtKB)
IEA
GO:0021510
P21359 (UniProtKB)
ISS
GO:0021764
P21359 (UniProtKB)
IEA
GO:0021897
P21359 (UniProtKB)
ISS
GO:0021915
P21359 (UniProtKB)
IEA
GO:0021987
P21359 (UniProtKB)
ISS
GO:0022011
P21359 (UniProtKB)
ISS
GO:0030036
P21359 (UniProtKB)
ISS
GO:0030198
P21359 (UniProtKB)
ISS
GO:0030199
P21359 (UniProtKB)
ISS
GO:0030325
P21359 (UniProtKB)
ISS
GO:0030336
P21359 (UniProtKB)
IMP
GO:0030424
P21359 (UniProtKB)
IDA
GO:0030425
P21359 (UniProtKB)
IDA
GO:0031210
P21359 (UniProtKB)
IDA
GO:0031235
P21359 (UniProtKB)
IBA
GO:0032228
P21359 (UniProtKB)
IEA
GO:0034605
P21359 (UniProtKB)
IEA
GO:0035021
P21359 (UniProtKB)
IEA
GO:0042060
P21359 (UniProtKB)
ISS
GO:0042992
P21359 (UniProtKB)
ISS
GO:0043065
P21359 (UniProtKB)
ISS
GO:0043087
P21359 (UniProtKB)
IMP
GO:0043407
P21359 (UniProtKB)
ISS
GO:0043409
P21359 (UniProtKB)
ISS
GO:0043409
P21359 (UniProtKB)
IMP
GO:0043473
P21359 (UniProtKB)
ISS
GO:0043525
P21359 (UniProtKB)
ISS
GO:0043535
P21359 (UniProtKB)
IMP
GO:0043547
P21359 (UniProtKB)
ISS
GO:0043547
P21359 (UniProtKB)
IMP
GO:0043547
P21359 (UniProtKB)
IDA
GO:0045124
P21359 (UniProtKB)
ISS
GO:0045671
P21359 (UniProtKB)
IEA
GO:0045685
P21359 (UniProtKB)
ISS
GO:0045762
P21359 (UniProtKB)
ISS
GO:0045765
P21359 (UniProtKB)
IMP
GO:0046580
P21359 (UniProtKB)
IBA
GO:0046929
P21359 (UniProtKB)
IEA
GO:0048147
P21359 (UniProtKB)
ISS
GO:0048169
P21359 (UniProtKB)
IEA
GO:0048485
P21359 (UniProtKB)
ISS
GO:0048593
P21359 (UniProtKB)
ISS
GO:0048712
P21359 (UniProtKB)
IEA
GO:0048715
P21359 (UniProtKB)
ISS
GO:0048745
P21359 (UniProtKB)
ISS
GO:0048844
P21359 (UniProtKB)
ISS
GO:0048853
P21359 (UniProtKB)
ISS
GO:0050890
P21359 (UniProtKB)
IMP
GO:0061534
P21359 (UniProtKB)
IEA
GO:0061535
P21359 (UniProtKB)
IEA
GO:0098597
P21359 (UniProtKB)
IEA
GO:0098793
P21359 (UniProtKB)
IEA
GO:1900271
P21359 (UniProtKB)
IEA
GO:1902043
P21359 (UniProtKB)
IEA
GO:2001241
P21359 (UniProtKB)
IEA

Related microRNA

Related microRNA

microRNAs potentially regulating NF1:     

Gene Interactions

Gene Interactions

String
BioGrid
IntAct
mentha
MINT
Loading…
Interacting Gene Interaction Source/Score

Gene Pathways

Gene Pathways

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source
Neurofibromatosis 1 0.670236159 256 99 BeFree_CLINVAR_CTD_human_GAD_LHGDN_MGD_ORPHANET_UNIPROT
Neurofibromatosis-Noonan syndrome 0.481900093 9 9 BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT
Juvenile Myelomonocytic Leukemia 0.443800186 17 2 BeFree_CLINVAR_CTD_human_MGD_ORPHANET
NEUROFIBROMATOSIS, FAMILIAL SPINAL 0.360814326 4 5 BeFree_CLINVAR_CTD_human_UNIPROT
Cafe-au-lait macules with pulmonary stenosis 0.360542884 2 1 BeFree_CLINVAR_CTD_human_ORPHANET
neurofibroma 0.139401857 47 0 BeFree_CTD_human_GAD_LHGDN
Nerve Sheath Tumors 0.136501872 37 0 BeFree_CTD_human_GAD_LHGDN
Neurofibromatoses 0.133049073 31 0 BeFree_CTD_human_LHGDN
Leukemia, Myelocytic, Acute 0.128815624 10 0 BeFree_CTD_human_GAD_LHGDN
Pheochromocytoma 0.127805801 12 0 BeFree_CTD_human_GAD_LHGDN

Related Publications

Related Publications

Age-Associated Genetic Variations in Breast Cancer: Somatic Mutations and Co-Mutations.
Ekinci B, Orenay-Boyacioglu S, Erdogdu IH, Boyacioglu O, Cirak-Balta M, Kahraman-Cetin N, Meteoglu I Biomedicines 2026-02-25
STK11 and DNA Repair Gene Mutations Define Hereditary Subset of Middle Eastern Papillary Thyroid Cancer.
Bu R, Haqawi W, Razzaq EAA, Azam S, Iqbal K, Qadri Z, Parvathareddy SK, Alrasheed M, Alobaisi K, Al-Dayel F, Siraj AK, Al-Kuraya KS Int J Mol Sci IF: 3.226 2026-03-14
Emerging Molecular Insights and Therapeutic Directions in Neurofibromatosis Type 1 and NF2-Related Schwannomatosis.
Park S, Woo TG, Kang SM, Kim BH, Park BJ Int J Mol Sci IF: 3.226 2026-03-22
Cancer risk in adults with pathogenic germline variants in RAS/MAPK genes using genomic ascertainment.
Kim J, Ney G, Frone MN, Haley JS, Ramos MLF, Mirshahi UL, Astiazaran-Symonds E, Shandrina M, Urban G, Rao HS, Stahl RC, Golden A, Yohe ME, Gross AM, Ding Y, Carey DJ, Gelb BD, Stewart DR Genet Med IF: 6.2 2026-06-00
Coexistence of Endodermal Cyst and Neurofibromatosis Type 1: A Case Report.
Takano K, Inoue Y, Oi Y, Kawajiri T, Hohri T Cureus 2026-02-00
[Interpretation of the Expert Consensus for Full Course Management of Plexiform Neurofibroma (2025 Edition)].
Group Of Neurofibromatosis Plastic And Reconstructive Surgery Society Of Chinese Medical Association, China Rare Disease Alliance Neurofibromatosis Expert Committee Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi 2026-04-15
ZNF827 pleiotropic cardiovascular risk locus involves regulation by nuclear factor-1.
Liu Y, Liu L, Esmael A, Tezza A, London C, Fustier MA, Georges A, Bouatia-Naji N Clin Sci (Lond) IF: 7.3 2026-05-20

Related Services

Related Services

Comments

Comments

Loading comments...

Log in to post comments Log In Sign Up

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: product@genelibs.com

Copyright © 2026.Genelibs Jinan Honghui Biotechnology Co., Ltd. 鲁ICP备20007159号-2