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ID GTPA_HUMAN STANDARD; PRT; 1047 AA.
AC P20936;
DT 01-FEB-1991 (REL. 17, CREATED)
DT 01-FEB-1991 (REL. 17, LAST SEQUENCE UPDATE)
DT 01-NOV-1995 (REL. 32, LAST ANNOTATION UPDATE)
DE GTPASE-ACTIVATING PROTEIN (GAP) (RAS P21 PROTEIN ACTIVATOR).
GN RASA.
OS HOMO SAPIENS (HUMAN).
OC EUKARYOTA; METAZOA; CHORDATA; VERTEBRATA; TETRAPODA; MAMMALIA;
OC EUTHERIA; PRIMATES.
RN [1]
RP SEQUENCE FROM N.A.
RC TISSUE=PLACENTA;
RX MEDLINE; 89072759.
RA TRAHEY M., WONG G., HALENBECK R., RUBINFELD B., MARTIN G.A.,
RA LADNER M., LONG C.M., CROSIER W.J., WATT K., KOTHS K.,
RA MCCORMICK F.;
RL SCIENCE 242:1697-1700(1988).
RN [2]
RP STRUCTURE BY NMR OF 275-350.
RX MEDLINE; 94185632.
RA YANG Y.S., GARBAY C., DUSCHESNE M., CORNILLE F., JULLIAN N.,
RA FROMAGE N., TOCQUE B., ROQUES B.P.;
RL EMBO J. 13:1270-1279(1994).
RN [3]
RP VARIANTS LEU-398; GLY-400 AND VAL-401.
RA FRIEDMAN E., GEJMAN P.V., MARTIN G.A., MCCORMICK F.;
RL NAT. GENET. 5:242-247(1993).
CC -!- FUNCTION: GAP STIMULATES THE GTPASE OF NORMAL BUT NOT ONCOGENIC
CC RAS P21.
CC -!- SUBCELLULAR LOCATION: CYTOPLASMIC.
CC -!- ALTERNATIVE PRODUCTS: THE TWO FORMS OF GAP ARE PROBABLY PRODUCED
CC BY ALTERNATIVE SPLICING OF THE SAME GENE.
CC -!- SIMILARITY: TO OTHER RAS GTPASE-ACTIVATING PROTEINS.
CC -!- SIMILARITY: CONTAINS TWO COPIES OF THE SH2 DOMAIN AND ONE COPY OF
CC THE SH3 DOMAIN.
CC -!- SIMILARITY: CONTAINS A COPY OF THE C2 DOMAIN.
CC -!- SIMILARITY: CONTAINS A PH DOMAIN.
CC -!- DISEASE: MUTATIONS IN THE SH2 DOMAIN OF RASA SEEM TO BE ONCOGENIC
CC AND CAUSE BASAL CELL CARCINOMAS.
DR EMBL; M23379; M23379.
DR EMBL; M23612; M23612.
DR PIR; A40121; A40121.
DR HSSP; P00519; 1AYB.
DR MIM; 139150; 11TH EDITION.
DR PROSITE; PS00509; RAS_GTPASE_ACTIV_1.
DR PROSITE; PS50001; SH2.
DR PROSITE; PS50002; SH3.
DR PROSITE; PS50003; PH_DOMAIN.
DR PROSITE; PS50004; C2_DOMAIN_2.
DR PROSITE; PS50018; RAS_GTPASE_ACTIV_2.
KW GTPASE ACTIVATION; ALTERNATIVE SPLICING; SH2 DOMAIN; SH3 DOMAIN;
KW PROTO-ONCOGENE; DISEASE MUTATION.
FT VARSPLIC 1 176 MISSING (IN SHORT FORM).
FT VARSPLIC 177 180 TNK -> MKG (IN SHORT FORM).
FT DOMAIN 181 272 SH2.
FT DOMAIN 279 341 SH3.
FT DOMAIN 351 441 SH2.
FT DOMAIN 474 577 PH.
FT DOMAIN 594 676 C2 DOMAIN.
FT DOMAIN 748 942 RAS-GAP.
FT VARIANT 398 398 R -> L (IN BASAL CELL CARCINOMAS).
FT VARIANT 400 400 K -> G (IN BASAL CELL CARCINOMAS).
FT VARIANT 401 401 I -> V (IN BASAL CELL CARCINOMAS).
SQ SEQUENCE 1047 AA; 116403 MW; 5700778 CN;
MMAAEAGSEE GGPVTAGAGG GGAAAGSSAY PAVCRVKIPA ALPVAAAPYP GLVETGVAGT
LGGGAALGSE FLGAGSVAGA LGGAGLTGGG TAAGVAGAAA GVAGAAVAGP SGDMALTKLP
TSLLAETLGP GGGFPPLPPP PYLPPLGAGL GTVDEGDSLD GPEYEEEEVA IPLTAPPTNQ
WYHGKLDRTI AEERLRQAGK SGSYLIRESD RRPGSFVLSF LSQMNVVNHF RIIAMCGDYY
IGGRRFSSLS DLIGYYSHVS CLLKGEKLLY PVAPPEPVED RRRVRAILPY TKVPDTDEIS
FLKGDMFIVH NELEDGWMWV TNLRTDEQGL IVEDLVEEVG REEDPHEGKI WFHGKISKQE
AYNLLMTVGQ VCSFLVRPSD NTPGDYSLYF RTNENIQRFK ICPTPNNQFM MGGRYYNSIG
DIIDHYRKEQ IVEGYYLKEP VPMQDQEQVL NDTVDGKEIY NTIRRKTKDA FYKNIVKKGY
LLKKGKGKRW KNLYFILEGS DAQLIYFESE KRATKPKGLI DLSVCSVYVV HDSLFGRPNC
FQIVVQHFSE EHYIFYFAGE TPEQAEDWMK GLQAFCNLRK SSPGTSNKRL RQVSSLVLHI
EEAHKLPVKH FTNPYCNIYL NSVQVAKTHA REGQNPVWSE EFVFDDLPPD INRFEITLSN
KTKKSKDPDI LFMRCQLSRL QKGHATDEWF LLSSHIPLKG IEPGSLRVRA RYSMEKIMPE
EEYSEFKELI LQKELHVVYA LSHVCGQDRT LLASILLRIF LHEKLESLLL CTLNDREISM
EDEATTLFRA TTLASTLMEQ YMKATATQFV HHALKDSILK IMESKQSCEL SPSKLEKNED
VNTNLTHLLN ILSELVEKIF MASEILPPTL RYIYGCLQKS VQHKWPTNTT MRTRVVSGFV
FLRLICPAIL NPRMFNIISD SPSPIAARTL ILVAKSVQNL ANLVEFGAKE PYMEGVNPFI
KSNKHRMIMF LDELGNVPEL PDTTEHSRTD LSRDLAALHE ICVAHSDELR TLSNERGAQQ
HVLKKLLAIT ELLQQKQNQY TKTNDVR
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