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
//
