ID G3QVS7_GORGO Unreviewed; 2811 AA.
AC G3QVS7;
DT 16-NOV-2011, integrated into UniProtKB/TrEMBL.
DT 28-FEB-2018, sequence version 2.
DT 27-MAR-2024, entry version 78.
DE SubName: Full=Neurofibromin 1 {ECO:0000313|Ensembl:ENSGGOP00000006859.3};
GN Name=NF1 {ECO:0000313|Ensembl:ENSGGOP00000006859.3};
OS Gorilla gorilla gorilla (Western lowland gorilla).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Gorilla.
OX NCBI_TaxID=9595 {ECO:0000313|Ensembl:ENSGGOP00000006859.3, ECO:0000313|Proteomes:UP000001519};
RN [1] {ECO:0000313|Ensembl:ENSGGOP00000006859.3, ECO:0000313|Proteomes:UP000001519}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Scally A.;
RT "Insights into the evolution of the great apes provided by the gorilla
RT genome.";
RL Submitted (MAY-2011) to the EMBL/GenBank/DDBJ databases.
RN [2] {ECO:0000313|Ensembl:ENSGGOP00000006859.3, ECO:0000313|Proteomes:UP000001519}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=22398555; DOI=10.1038/nature10842;
RA Scally A., Dutheil J.Y., Hillier L.W., Jordan G.E., Goodhead I.,
RA Herrero J., Hobolth A., Lappalainen T., Mailund T., Marques-Bonet T.,
RA McCarthy S., Montgomery S.H., Schwalie P.C., Tang Y.A., Ward M.C., Xue Y.,
RA Yngvadottir B., Alkan C., Andersen L.N., Ayub Q., Ball E.V., Beal K.,
RA Bradley B.J., Chen Y., Clee C.M., Fitzgerald S., Graves T.A., Gu Y.,
RA Heath P., Heger A., Karakoc E., Kolb-Kokocinski A., Laird G.K., Lunter G.,
RA Meader S., Mort M., Mullikin J.C., Munch K., O'Connor T.D., Phillips A.D.,
RA Prado-Martinez J., Rogers A.S., Sajjadian S., Schmidt D., Shaw K.,
RA Simpson J.T., Stenson P.D., Turner D.J., Vigilant L., Vilella A.J.,
RA Whitener W., Zhu B., Cooper D.N., de Jong P., Dermitzakis E.T.,
RA Eichler E.E., Flicek P., Goldman N., Mundy N.I., Ning Z., Odom D.T.,
RA Ponting C.P., Quail M.A., Ryder O.A., Searle S.M., Warren W.C.,
RA Wilson R.K., Schierup M.H., Rogers J., Tyler-Smith C., Durbin R.;
RT "Insights into hominid evolution from the gorilla genome sequence.";
RL Nature 483:169-175(2012).
RN [3] {ECO:0000313|Ensembl:ENSGGOP00000006859.3}
RP IDENTIFICATION.
RG Ensembl;
RL Submitted (NOV-2023) to UniProtKB.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; CABD030038438; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CABD030038439; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CABD030038440; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CABD030038441; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CABD030038442; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CABD030038443; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CABD030038444; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CABD030038445; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CABD030038446; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CABD030038447; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR STRING; 9593.ENSGGOP00000006859; -.
DR Ensembl; ENSGGOT00000007040.3; ENSGGOP00000006859.3; ENSGGOG00000006983.3.
DR eggNOG; KOG1826; Eukaryota.
DR GeneTree; ENSGT00550000074797; -.
DR HOGENOM; CLU_000249_0_0_1; -.
DR InParanoid; G3QVS7; -.
DR OMA; TKEPYMF; -.
DR TreeFam; TF300302; -.
DR Proteomes; UP000001519; Chromosome 5.
DR Bgee; ENSGGOG00000006983; Expressed in testis and 6 other cell types or tissues.
DR GO; GO:0030424; C:axon; IEA:Ensembl.
DR GO; GO:0005737; C:cytoplasm; IEA:Ensembl.
DR GO; GO:0030425; C:dendrite; IEA:Ensembl.
DR GO; GO:0098978; C:glutamatergic synapse; IEA:Ensembl.
DR GO; GO:0005654; C:nucleoplasm; IEA:Ensembl.
DR GO; GO:0005886; C:plasma membrane; IEA:Ensembl.
DR GO; GO:0098793; C:presynapse; IEA:GOC.
DR GO; GO:0005096; F:GTPase activator activity; IEA:UniProtKB-KW.
DR GO; GO:0031210; F:phosphatidylcholine binding; IEA:Ensembl.
DR GO; GO:0008429; F:phosphatidylethanolamine binding; IEA:Ensembl.
DR GO; GO:0030036; P:actin cytoskeleton organization; IEA:Ensembl.
DR GO; GO:0030325; P:adrenal gland development; IEA:Ensembl.
DR GO; GO:0021764; P:amygdala development; IEA:Ensembl.
DR GO; GO:0001525; P:angiogenesis; IEA:Ensembl.
DR GO; GO:0048844; P:artery morphogenesis; IEA:Ensembl.
DR GO; GO:0048593; P:camera-type eye morphogenesis; IEA:Ensembl.
DR GO; GO:0034605; P:cellular response to heat; IEA:Ensembl.
DR GO; GO:0021987; P:cerebral cortex development; IEA:Ensembl.
DR GO; GO:0030199; P:collagen fibril organization; IEA:Ensembl.
DR GO; GO:0001935; P:endothelial cell proliferation; IEA:Ensembl.
DR GO; GO:0097192; P:extrinsic apoptotic signaling pathway in absence of ligand; IEA:Ensembl.
DR GO; GO:0008625; P:extrinsic apoptotic signaling pathway via death domain receptors; IEA:Ensembl.
DR GO; GO:0048144; P:fibroblast proliferation; IEA:Ensembl.
DR GO; GO:0021897; P:forebrain astrocyte development; IEA:Ensembl.
DR GO; GO:0048853; P:forebrain morphogenesis; IEA:Ensembl.
DR GO; GO:0061534; P:gamma-aminobutyric acid secretion, neurotransmission; IEA:Ensembl.
DR GO; GO:0061535; P:glutamate secretion, neurotransmission; IEA:Ensembl.
DR GO; GO:0048820; P:hair follicle maturation; IEA:Ensembl.
DR GO; GO:0007507; P:heart development; IEA:Ensembl.
DR GO; GO:0001889; P:liver development; IEA:Ensembl.
DR GO; GO:0060291; P:long-term synaptic potentiation; IEA:Ensembl.
DR GO; GO:0000165; P:MAPK cascade; IEA:Ensembl.
DR GO; GO:0033024; P:mast cell apoptotic process; IEA:Ensembl.
DR GO; GO:0070662; P:mast cell proliferation; IEA:Ensembl.
DR GO; GO:0001656; P:metanephros development; IEA:Ensembl.
DR GO; GO:0022011; P:myelination in peripheral nervous system; IEA:Ensembl.
DR GO; GO:0097529; P:myeloid leukocyte migration; IEA:Ensembl.
DR GO; GO:0016525; P:negative regulation of angiogenesis; IEA:Ensembl.
DR GO; GO:0048712; P:negative regulation of astrocyte differentiation; IEA:Ensembl.
DR GO; GO:0001953; P:negative regulation of cell-matrix adhesion; IEA:Ensembl.
DR GO; GO:0001937; P:negative regulation of endothelial cell proliferation; IEA:Ensembl.
DR GO; GO:0048147; P:negative regulation of fibroblast proliferation; IEA:Ensembl.
DR GO; GO:0002686; P:negative regulation of leukocyte migration; IEA:Ensembl.
DR GO; GO:0043409; P:negative regulation of MAPK cascade; IEA:Ensembl.
DR GO; GO:0070667; P:negative regulation of mast cell proliferation; IEA:Ensembl.
DR GO; GO:0007406; P:negative regulation of neuroblast proliferation; IEA:Ensembl.
DR GO; GO:0046929; P:negative regulation of neurotransmitter secretion; IEA:Ensembl.
DR GO; GO:0048715; P:negative regulation of oligodendrocyte differentiation; IEA:Ensembl.
DR GO; GO:0045671; P:negative regulation of osteoclast differentiation; IEA:Ensembl.
DR GO; GO:0042308; P:negative regulation of protein import into nucleus; IEA:Ensembl.
DR GO; GO:0035021; P:negative regulation of Rac protein signal transduction; IEA:Ensembl.
DR GO; GO:1900148; P:negative regulation of Schwann cell migration; IEA:Ensembl.
DR GO; GO:0010626; P:negative regulation of Schwann cell proliferation; IEA:Ensembl.
DR GO; GO:2000647; P:negative regulation of stem cell proliferation; IEA:Ensembl.
DR GO; GO:1904753; P:negative regulation of vascular associated smooth muscle cell migration; IEA:Ensembl.
DR GO; GO:0021915; P:neural tube development; IEA:Ensembl.
DR GO; GO:0007405; P:neuroblast proliferation; IEA:Ensembl.
DR GO; GO:0051402; P:neuron apoptotic process; IEA:Ensembl.
DR GO; GO:0098597; P:observational learning; IEA:Ensembl.
DR GO; GO:0048709; P:oligodendrocyte differentiation; IEA:Ensembl.
DR GO; GO:0001649; P:osteoblast differentiation; IEA:Ensembl.
DR GO; GO:0030316; P:osteoclast differentiation; IEA:Ensembl.
DR GO; GO:0043491; P:phosphatidylinositol 3-kinase/protein kinase B signal transduction; IEA:Ensembl.
DR GO; GO:0043473; P:pigmentation; IEA:Ensembl.
DR GO; GO:0001938; P:positive regulation of endothelial cell proliferation; IEA:Ensembl.
DR GO; GO:2001241; P:positive regulation of extrinsic apoptotic signaling pathway in absence of ligand; IEA:Ensembl.
DR GO; GO:0033027; P:positive regulation of mast cell apoptotic process; IEA:Ensembl.
DR GO; GO:0043525; P:positive regulation of neuron apoptotic process; IEA:Ensembl.
DR GO; GO:1904707; P:positive regulation of vascular associated smooth muscle cell proliferation; IEA:Ensembl.
DR GO; GO:0006606; P:protein import into nucleus; IEA:Ensembl.
DR GO; GO:0016601; P:Rac protein signal transduction; IEA:Ensembl.
DR GO; GO:0043535; P:regulation of blood vessel endothelial cell migration; IEA:Ensembl.
DR GO; GO:0045124; P:regulation of bone resorption; IEA:Ensembl.
DR GO; GO:0070372; P:regulation of ERK1 and ERK2 cascade; IEA:Ensembl.
DR GO; GO:0010468; P:regulation of gene expression; IEA:Ensembl.
DR GO; GO:0048169; P:regulation of long-term neuronal synaptic plasticity; IEA:Ensembl.
DR GO; GO:1900271; P:regulation of long-term synaptic potentiation; IEA:Ensembl.
DR GO; GO:0099175; P:regulation of postsynapse organization; IEA:Ensembl.
DR GO; GO:0032228; P:regulation of synaptic transmission, GABAergic; IEA:Ensembl.
DR GO; GO:0001666; P:response to hypoxia; IEA:Ensembl.
DR GO; GO:0036135; P:Schwann cell migration; IEA:Ensembl.
DR GO; GO:0014010; P:Schwann cell proliferation; IEA:Ensembl.
DR GO; GO:0007519; P:skeletal muscle tissue development; IEA:Ensembl.
DR GO; GO:0048745; P:smooth muscle tissue development; IEA:Ensembl.
DR GO; GO:0021510; P:spinal cord development; IEA:Ensembl.
DR GO; GO:0072089; P:stem cell proliferation; IEA:Ensembl.
DR GO; GO:0048485; P:sympathetic nervous system development; IEA:Ensembl.
DR GO; GO:1904738; P:vascular associated smooth muscle cell migration; IEA:Ensembl.
DR GO; GO:1990874; P:vascular associated smooth muscle cell proliferation; IEA:Ensembl.
DR GO; GO:0008542; P:visual learning; IEA:Ensembl.
DR GO; GO:0042060; P:wound healing; IEA:Ensembl.
DR CDD; cd13313; PH_NF1; 1.
DR CDD; cd05130; RasGAP_Neurofibromin; 1.
DR CDD; cd00170; SEC14; 1.
DR Gene3D; 3.40.525.10; CRAL-TRIO lipid binding domain; 1.
DR Gene3D; 2.30.29.30; Pleckstrin-homology domain (PH domain)/Phosphotyrosine-binding domain (PTB); 1.
DR InterPro; IPR016024; ARM-type_fold.
DR InterPro; IPR001251; CRAL-TRIO_dom.
DR InterPro; IPR036865; CRAL-TRIO_dom_sf.
DR InterPro; IPR011993; PH-like_dom_sf.
DR InterPro; IPR039360; Ras_GTPase.
DR InterPro; IPR023152; RasGAP_CS.
DR InterPro; IPR001936; RasGAP_dom.
DR InterPro; IPR008936; Rho_GTPase_activation_prot.
DR PANTHER; PTHR10194:SF142; NEUROFIBROMIN; 1.
DR PANTHER; PTHR10194; RAS GTPASE-ACTIVATING PROTEINS; 1.
DR Pfam; PF13716; CRAL_TRIO_2; 1.
DR Pfam; PF00616; RasGAP; 1.
DR SMART; SM00323; RasGAP; 1.
DR SMART; SM00516; SEC14; 1.
DR SUPFAM; SSF48371; ARM repeat; 1.
DR SUPFAM; SSF48350; GTPase activation domain, GAP; 1.
DR PROSITE; PS50191; CRAL_TRIO; 1.
DR PROSITE; PS00509; RAS_GTPASE_ACTIV_1; 1.
DR PROSITE; PS50018; RAS_GTPASE_ACTIV_2; 1.
PE 4: Predicted;
KW GTPase activation {ECO:0000256|ARBA:ARBA00022468};
KW Phosphoprotein {ECO:0000256|ARBA:ARBA00022553};
KW Reference proteome {ECO:0000313|Proteomes:UP000001519}.
FT DOMAIN 1212..1428
FT /note="Ras-GAP"
FT /evidence="ECO:0000259|PROSITE:PS50018"
FT DOMAIN 1557..1715
FT /note="CRAL-TRIO"
FT /evidence="ECO:0000259|PROSITE:PS50191"
FT REGION 2759..2811
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2774..2803
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 2811 AA; 316358 MW; B019189939324DC1 CRC64;
MAAHRPVEWV QAVVSRFDEQ LPIKTGQQNT HTKVSTEHNK ECLINISKYK FSLVISGLTT
ILKNVNNMRI FGEAAEKNLY LSQLIILDTL EKCLAGQPKD TMRLDETMLV KQLLPEICHF
LHTCREGNQH AAELRNSASG VLFSLSCNNF NAVFSRISTR LVYVIKVKLL LKKTAFKFKA
LKKVAQLAVI NSLEKAFWNW VENYPDEFTK LYQIPQTDMA ECAEKLFDLV DGFAESTKRK
AAVWPLQIIL LILCPEIIQD ISKDVVDENN MNKKLFLDSL RKALAGHGGS RQLTESAAIA
CVKLCKASTY INWEDNSVIF LLVQSMVVDL KNLLFNPSKP FSRGSQPADV DLMIDCLVSC
FRISPHNNQH FKICLAQNSP STFHYVLVNS LHRIITNSAL DWWPKIDAVY CHSVELRNMF
GETLHKAVQG CGAHPAIRMA PSLTFKEKVT SLKFKEKPTD LETRSYKYLL LSMVKLIHAD
PKLLLCNPRK QGPETQGSTA ELITGLVQLV PQSHMPEIAQ EAMEALLVLH QLDSIDLWNP
DAPVETFWEI SSQMLFYICK KLTSHQMLSS TEILKWLREI LICRNKFLLK NKQADRSSCH
FLLFYGVGCD IPSSGNTSQM SMDHEELLRT PGASLRKGKG NSSMDSAAGC SGTPPICRQA
QTKLEVALYM FLWNPDTEAV LVAMSCFRHL CEEADIRCGV DEVSVHNLLP NYNTFMEFAS
VSNMMSTGRA ALQKRVMALL RRIEHPTAGN TEAWEDTHAK WEQATKLILN YPKAKMEDGQ
AAESLHKTIV KRRMSHVSGG GSIDLSDTDS LQEWINMTGF LCALGGVCLQ QRSNSGLATY
SPPMGPVSER KGSMISVMSS EGNADTPVSK FMDRLLSLMV CNHEKVGLQI RTNVKDLVGL
ELSPALYPML FNKLKNTISK FFDSQGQVLL TDTNTQFVEQ TIAIMKNLLD NHTEGSSEHL
GQASIETMML NLVRYVRVLG NMVHAIQIKT KLCQLVEVMM ARRDDLSFCQ EMKFRNKMVE
YLTDWVMGTS NQAADDDVKC LTRDLDQASM EAVVSLLAGL PLQPEEGDGV ELMEAKSQLF
LKYFTLFMNL LNDCSEVEDE SAQTGGRKRG MSRRLASLRH CTVLAMSNLL NANVDSGLMH
SIGLGYHKDL QTRATFMEVL TKILQQGTEF DTLAETVLAD RFERLVELVT MMGDQGELPI
AMALANVVPC SQWDELARVL VTLFDSRHLL YQLLWNMFSK EVELADSMQT LFRGNSLASK
IMTFCFKVYG ATYLQKLLDP LLRIVITSSD WQHVSFEVDP TRLEPSESLE ENQRNLLQMT
EKFFHAIISS SSEFPPQLRS VCHCLYQATC HSLLNKATVK EKKENKKSVV SQRFPQNSIG
AVGSAMFLRF INPAIVSPYE AGILDKKPPP RIERGLKLMS KILQSIANHV LFTKEEHMRP
FNDFVKSNFD AARRFFLDIA SDCPTSDAVN HSLSFISDGN VLALHRLLWN NQEKIGQYLS
SNRDHKAVGR RPFDKMATLL AYLGPPEHKP VADTHWSSLN LTSSKFEEFM TRHQVHEKEE
FKALKTLSIF YQAGTSKAGN PIFYYVARRF KTGQINGDLL IYHVLLTLKP YYAKPYEIVV
DLTHTGPSNR FKTDFLSKWF VVFPGFAYDN VSAVYIYNCN SWVREYTKYH ERLLTGLKGS
KRLVFIDCPG KLAEHIEHEQ QKLPAATLAL EEDLKVFHNA LKLAHKDTKV SIKVGSTAVQ
VTSAERTKVL GQSVFLNDIY YASEIEEICL VDENQFTLTI ANQGTPLTFM HQECEAIVQS
IIHIRTRWEL SQPDSIPQHT KIRPKDVPGT LLNIALLNLG SSDPSLRSAA YNLLCALTCT
FNLKIEGQLL ETSGLCIPAN NTLFIVSISK TLAANEPHLT LEFLEECISG FSKSSIELKH
LCLEYMTPWL SNLVRFCKHN DDAKRQRVTA ILDKLITMTI NEKQMYPSIQ AKIWGSLGQI
TDLLDVVLDS FIKTSATGGL GSIKAEVMAD TAVVITFLLP SVIGRMCKII DKTCLSPTPT
LEQHLMWDDI AILARYMLML SFNNSLDVAA HLPYLFHVVT FLVATGPLSL RASTHGLVIN
IIHSLCTCSQ LHFSEETKQV LRLSLTEFSL PKFYLLFGIS KVKSAAVIAF RSSYRDRSFS
PGSYERETFA LTSLETVTEA LLEIMEACMR DIPTCKWLDQ WTELAQRFAF QYNPSLQPRA
LVVFGCISKR VSHGQIKQII RILSKALESC LKGPDTYNSQ VLIEATVIAL TKLQPLLNKD
SPLHKALFWV AVAVLQLDEV NLYSAGTALL EQNLHTLDSL RIFNDKSPEE VFMAIRNPLE
WHCKQMDHFV GLNFNSNFNF ALVGHLLKGY RHPSPAIVAR TVRILHTLLT LVNKHRNCDK
FEVNTQSVAY LAALLTVSEE VRSRCSLKHR KSLLLTDISM ENVPMDTYPI HHGDPTYRTL
KETQPWSSPK GSEGYLAATY PTVGQTSPRA RKSMSLDMGQ PSQANTKKLL GTRKSFDHLI
SDTKAPKRQE MESGITTPPK MRRVAETDYE METQRISSSQ QHPHLRKVSV SESNVLLDEE
VLTDPKIQAL LLTVLATLVK YTTDEFDQRI LYEYLAEASV VFPKVFPVVH NLLDSKINTL
LSLCQDPNLL NPIHGIVQSV VYHEESPPQY QTSYLQSFGF NGLWRFAGPF SKQTQIPDYA
ELIVKFLDAL IDTYLPGIDE ETSEESLLTP TSPYPPALQS QLSITANLNL SNSMTSLATS
QHSPGIDKEN VELSPTTGHC NSGRTRHGSA SQVQKQRSAG SFKRNSIKKI V
//
