位置:首页 > 蛋白库 > PM2P3_HUMAN
PM2P3_HUMAN
ID   PM2P3_HUMAN             Reviewed;         168 AA.
AC   Q13401; A6NG70; Q3MJ29;
DT   13-NOV-2007, integrated into UniProtKB/Swiss-Prot.
DT   30-NOV-2010, sequence version 2.
DT   03-AUG-2022, entry version 140.
DE   RecName: Full=Putative postmeiotic segregation increased 2-like protein 3;
DE   AltName: Full=PMS2-related protein 3;
DE   AltName: Full=Postmeiotic segregation increased 2-like protein 9;
DE   AltName: Full=Postmeiotic segregation increased protein 5;
DE   AltName: Full=Putative postmeiotic segregation increased 2 pseudogene 3;
GN   Name=PMS2P3; Synonyms=PMS2L3, PMS2L9, PMS5, PMSR3;
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;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND ALTERNATIVE SPLICING (ISOFORM 1).
RC   TISSUE=Small intestine;
RX   PubMed=8586419; DOI=10.1006/geno.1995.9885;
RA   Nicolaides N.C., Carter K.C., Shell B.K., Papadopoulos N., Vogelstein B.,
RA   Kinzler K.W.;
RT   "Genomic organization of the human PMS2 gene family.";
RL   Genomics 30:195-206(1995).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RA   Li W.B., Gruber C., Jessee J., Polayes D.;
RT   "Full-length cDNA libraries and normalization.";
RL   Submitted (OCT-1995) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=12853948; DOI=10.1038/nature01782;
RA   Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA   Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA   Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA   Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA   Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA   Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA   Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA   Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA   Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA   Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA   Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA   Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA   Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA   Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA   Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA   Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA   Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA   Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA   McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA   Wilson R.K.;
RT   "The DNA sequence of human chromosome 7.";
RL   Nature 424:157-164(2003).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA   Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA   Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA   Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA   Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA   Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA   Hunkapiller M.W., Myers E.W., Venter J.C.;
RL   Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
RC   TISSUE=Brain;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=Q13401-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q13401-2; Sequence=VSP_040290;
CC       Name=3;
CC         IsoId=Q13401-3; Sequence=VSP_040289;
CC   -!- MISCELLANEOUS: Encoded by one of the numerous copies of postmeiotic
CC       segregation increased 2-like genes scattered in the q11-q22 region of
CC       the chromosome 7.
CC   -!- SIMILARITY: Belongs to the DNA mismatch repair MutL/HexB family.
CC       {ECO:0000305}.
CC   -!- CAUTION: Could be the product of a pseudogene. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAA97459.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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; U38979; AAA97459.1; ALT_SEQ; Genomic_DNA.
DR   EMBL; CR621744; -; NOT_ANNOTATED_CDS; mRNA.
DR   EMBL; AC018720; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471220; EAW71766.1; -; Genomic_DNA.
DR   EMBL; BC029646; -; NOT_ANNOTATED_CDS; mRNA.
DR   EMBL; BC101598; AAI01599.1; -; mRNA.
DR   AlphaFoldDB; Q13401; -.
DR   SMR; Q13401; -.
DR   IntAct; Q13401; 1.
DR   iPTMnet; Q13401; -.
DR   PhosphoSitePlus; Q13401; -.
DR   BioMuta; HGNC:9128; -.
DR   DMDM; 313104156; -.
DR   jPOST; Q13401; -.
DR   MassIVE; Q13401; -.
DR   MaxQB; Q13401; -.
DR   PeptideAtlas; Q13401; -.
DR   PRIDE; Q13401; -.
DR   GeneCards; PMS2P3; -.
DR   HGNC; HGNC:9128; PMS2P3.
DR   neXtProt; NX_Q13401; -.
DR   InParanoid; Q13401; -.
DR   PhylomeDB; Q13401; -.
DR   PathwayCommons; Q13401; -.
DR   SignaLink; Q13401; -.
DR   ChiTaRS; PMS2P3; human.
DR   Pharos; Q13401; Tdark.
DR   PRO; PR:Q13401; -.
DR   Proteomes; UP000005640; Unplaced.
DR   RNAct; Q13401; protein.
DR   GO; GO:0032300; C:mismatch repair complex; IBA:GO_Central.
DR   GO; GO:0016887; F:ATP hydrolysis activity; IBA:GO_Central.
DR   GO; GO:0140664; F:ATP-dependent DNA damage sensor activity; IEA:InterPro.
DR   GO; GO:0006298; P:mismatch repair; IBA:GO_Central.
DR   GO; GO:0006355; P:regulation of transcription, DNA-templated; IEA:InterPro.
DR   CDD; cd07765; KRAB_A-box; 1.
DR   Gene3D; 3.30.565.10; -; 1.
DR   InterPro; IPR036890; HATPase_C_sf.
DR   InterPro; IPR001909; KRAB.
DR   InterPro; IPR036051; KRAB_dom_sf.
DR   InterPro; IPR038973; MutL/Mlh/Pms.
DR   PANTHER; PTHR10073; PTHR10073; 1.
DR   Pfam; PF01352; KRAB; 1.
DR   SMART; SM00349; KRAB; 1.
DR   SUPFAM; SSF109640; SSF109640; 1.
DR   SUPFAM; SSF55874; SSF55874; 1.
DR   PROSITE; PS50805; KRAB; 1.
PE   5: Uncertain;
KW   Alternative splicing; Reference proteome.
FT   CHAIN           1..168
FT                   /note="Putative postmeiotic segregation increased 2-like
FT                   protein 3"
FT                   /id="PRO_0000311100"
FT   DOMAIN          8..84
FT                   /note="KRAB"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT   VAR_SEQ         85..168
FT                   /note="EPAKAIKPIDRKSVHQICSGPVVLSLSTAVKELVENSLDAGATNIDLKLKDY
FT                   GVDLIEVSDNGCGVEEENFEGLISFSSETSHM -> VQNLLRPSNLLIGSQSIRFALGQ
FT                   WY (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_040289"
FT   VAR_SEQ         159..168
FT                   /note="ISFSSETSHM -> TMSPFLPATRR (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_040290"
FT   CONFLICT        23
FT                   /note="R -> W (in Ref. 5; BC029646)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   168 AA;  18716 MW;  995B2A9EC5AA3835 CRC64;
     MNTLQGPVSF KDVAVDFTQE EWRQLDPDEK IAYGDVMLEN YSHLVSVGYD YHQAKHHHGV
     EVKEVEQGEE PWIMEGEFPC QHSPEPAKAI KPIDRKSVHQ ICSGPVVLSL STAVKELVEN
     SLDAGATNID LKLKDYGVDL IEVSDNGCGV EEENFEGLIS FSSETSHM
 
 
维奥蛋白资源库 - 中文蛋白资源 CopyRight © 2010-2024