ID A0A0A0MQZ2_HUMAN Unreviewed; 1284 AA.
AC A0A0A0MQZ2;
DT 07-JAN-2015, integrated into UniProtKB/TrEMBL.
DT 07-JAN-2015, sequence version 1.
DT 27-MAR-2024, entry version 55.
DE SubName: Full=Synaptic Ras GTPase activating protein 1 {ECO:0000313|Ensembl:ENSP00000293748.6};
DE Flags: Fragment;
GN Name=SYNGAP1 {ECO:0000313|Ensembl:ENSP00000293748.6};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606 {ECO:0000313|Ensembl:ENSP00000293748.6, ECO:0000313|Proteomes:UP000005640};
RN [1] {ECO:0000313|Ensembl:ENSP00000293748.6, ECO:0000313|Proteomes:UP000005640}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [2] {ECO:0000313|Ensembl:ENSP00000293748.6}
RP IDENTIFICATION.
RG Ensembl;
RL Submitted (NOV-2023) to UniProtKB.
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DR EMBL; AL662799; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR SMR; A0A0A0MQZ2; -.
DR MassIVE; A0A0A0MQZ2; -.
DR PeptideAtlas; A0A0A0MQZ2; -.
DR Ensembl; ENST00000293748.9; ENSP00000293748.6; ENSG00000197283.18.
DR UCSC; uc063nxt.1; human.
DR HGNC; HGNC:11497; SYNGAP1.
DR VEuPathDB; HostDB:ENSG00000197283; -.
DR GeneTree; ENSGT00940000158438; -.
DR HOGENOM; CLU_001727_1_0_1; -.
DR Proteomes; UP000005640; Chromosome 6.
DR Bgee; ENSG00000197283; Expressed in pituitary gland and 99 other cell types or tissues.
DR ExpressionAtlas; A0A0A0MQZ2; baseline and differential.
DR GO; GO:0005096; F:GTPase activator activity; IEA:UniProtKB-KW.
DR GO; GO:0046580; P:negative regulation of Ras protein signal transduction; IEA:InterPro.
DR CDD; cd04013; C2_SynGAP_like; 1.
DR CDD; cd13375; PH_SynGAP; 1.
DR CDD; cd05136; RasGAP_DAB2IP; 1.
DR CDD; cd22265; UDM1_RNF168; 1.
DR Gene3D; 2.60.40.150; C2 domain; 1.
DR Gene3D; 2.30.29.30; Pleckstrin-homology domain (PH domain)/Phosphotyrosine-binding domain (PTB); 1.
DR InterPro; IPR000008; C2_dom.
DR InterPro; IPR035892; C2_domain_sf.
DR InterPro; IPR021887; DAB2P_C.
DR InterPro; IPR011993; PH-like_dom_sf.
DR InterPro; IPR001849; PH_domain.
DR InterPro; IPR039360; Ras_GTPase.
DR InterPro; IPR023152; RasGAP_CS.
DR InterPro; IPR001936; RasGAP_dom.
DR InterPro; IPR008936; Rho_GTPase_activation_prot.
DR InterPro; IPR037779; SynGAP_PH.
DR PANTHER; PTHR10194; RAS GTPASE-ACTIVATING PROTEINS; 1.
DR PANTHER; PTHR10194:SF25; RAS_RAP GTPASE-ACTIVATING PROTEIN SYNGAP; 1.
DR Pfam; PF00168; C2; 1.
DR Pfam; PF12004; DAB2P_C; 1.
DR Pfam; PF00616; RasGAP; 2.
DR SMART; SM00239; C2; 1.
DR SMART; SM00233; PH; 1.
DR SMART; SM00323; RasGAP; 1.
DR SUPFAM; SSF49562; C2 domain (Calcium/lipid-binding domain, CaLB); 1.
DR SUPFAM; SSF48350; GTPase activation domain, GAP; 1.
DR SUPFAM; SSF50729; PH domain-like; 1.
DR PROSITE; PS50004; C2; 1.
DR PROSITE; PS50003; PH_DOMAIN; 1.
DR PROSITE; PS00509; RAS_GTPASE_ACTIV_1; 1.
DR PROSITE; PS50018; RAS_GTPASE_ACTIV_2; 1.
PE 1: Evidence at protein level;
KW Coiled coil {ECO:0000256|SAM:Coils};
KW GTPase activation {ECO:0000256|ARBA:ARBA00022468};
KW Proteomics identification {ECO:0007829|EPD:A0A0A0MQZ2,
KW ECO:0007829|MaxQB:A0A0A0MQZ2};
KW Reference proteome {ECO:0000313|Proteomes:UP000005640}.
FT DOMAIN 202..236
FT /note="PH"
FT /evidence="ECO:0000259|PROSITE:PS50003"
FT DOMAIN 227..348
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 428..620
FT /note="Ras-GAP"
FT /evidence="ECO:0000259|PROSITE:PS50018"
FT REGION 77..114
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 358..379
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 710..738
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 766..790
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 918..1002
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1018..1139
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 1180..1246
FT /evidence="ECO:0000256|SAM:Coils"
FT COMPBIAS 77..91
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 710..725
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1053..1100
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1117..1139
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT NON_TER 1
FT /evidence="ECO:0000313|Ensembl:ENSP00000293748.6"
SQ SEQUENCE 1284 AA; 141961 MW; 88B40503F2009DC6 CRC64;
MSYAPFRDVR GPSMHRTQYV HSPYDRPGWN PRFCIISGNQ LLMLDEDEIH PLLIRDRRSE
SSRNKLLRRT VSVPVEGRPH GEHEYHLGRS RRKSVPGGKQ YSMEGAPAAP FRPSQGFLSR
RLKSSIKRTK SQPKLDRTSS FRQILPRFRS ADHDRARLMQ SFKESHSHES LLSPSSAAEA
LELNLDEDSI IKPVHSSILG QEFCFEVTTS SGTKCFACRS AAERDKWIEN LQRAVKPNKD
NSRRVDNVLK LWIIEARELP PKKRYYCELC LDDMLYARTT SKPRSASGDT VFWGEHFEFN
NLPAVRALRL HLYRDSDKKR KKDKAGYVGL VTVPVATLAG RHFTEQWYPV TLPTGSGGSG
GMGSGGGGGS GGGSGGKGKG GCPAVRLKAR YQTMSILPME LYKEFAEYVT NHYRMLCAVL
EPALNVKGKE EVASALVHIL QSTGKAKDFL SDMAMSEVDR FMEREHLIFR ENTLATKAIE
EYMRLIGQKY LKDAIGEFIR ALYESEENCE VDPIKCTASS LAEHQANLRM CCELALCKVV
NSHCVFPREL KEVFASWRLR CAERGREDIA DRLISASLFL RFLCPAIMSP SLFGLMQEYP
DEQTSRTLTL IAKVIQNLAN FSKFTSKEDF LGFMNEFLEL EWGSMQQFLY EISNLDTLTN
SSSFEGYIDL GRELSTLHAL LWEVLPQLSK EALLKLGPLP RLLNDISTAL RNPNIQRQPS
RQSERPRPQP VVLRGPSAEM QGYMMRDLNS SIDLQSFMAR GLNSSMDMAR LPSPTKEKPP
PPPPGGGKDL FYVSRPPLAR SSPAYCTSSS DITEPEQKML SVNKSVSMLD LQGDGPGGRL
NSSSVSNLAA VGDLLHSSQA SLTAALGLRP APAGRLSQGS GSSITAAGMR LSQMGVTTDG
VPAQQLRIPL SFQNPLFHMA ADGPGPPGGH GGGGGHGPPS SHHHHHHHHH HRGGEPPGDT
FAPFHGYSKS EDLSSGVPKP PAASILHSHS YSDEFGPSGT DFTRRQLSLQ DNLQHMLSPP
QITIGPQRPA PSGPGGGSGG GSGGGGGGQP PPLQRGKSQQ LTVSAAQKPR PSSGNLLQSP
EPSYGPARPR QQSLSKEGSI GGSGGSGGGG GGGLKPSITK QHSQTPSTLN PTMPASERTV
AWVSNMPHLS ADIESAHIER EEYKLKEYSK SMDESRLDRV KEYEEEIHSL KERLHMSNRK
LEEYERRLLS QEEQTSKILM QYQARLEQSE KRLRQQQAEK DSQIKSIIGR LMLVEEELRR
DHPAMAEPLP EPKKRLLDAQ LLIR
//
