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};
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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