PM2P1_HUMAN
ID PM2P1_HUMAN Reviewed; 440 AA.
AC A4D2B8; Q0VGD2; Q13400; Q16530; Q6NVZ2; Q7KZ90;
DT 13-NOV-2007, integrated into UniProtKB/Swiss-Prot.
DT 03-APR-2007, sequence version 1.
DT 03-AUG-2022, entry version 104.
DE RecName: Full=Putative postmeiotic segregation increased 2-like protein 1;
DE AltName: Full=PMS2-related protein 2;
DE AltName: Full=Postmeiotic segregation increased 2-like protein 13;
DE AltName: Full=Postmeiotic segregation increased 2-like protein 6;
DE AltName: Full=Postmeiotic segregation increased 2-like protein 8;
DE AltName: Full=Postmeiotic segregation increased protein 3;
DE Short=hPMS3;
DE AltName: Full=Postmeiotic segregation increased protein 8;
DE AltName: Full=Putative postmeiotic segregation increased 2 pseudogene 1;
GN Name=PMS2P1; Synonyms=PMS2L1, PMS2L13, PMS2L6, PMS2L8, PMS3, PMS8, PMSR2;
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].
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 GENOMIC DNA].
RX PubMed=12690205; DOI=10.1126/science.1083423;
RA Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D.,
RA Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S.,
RA Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R.,
RA Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N.,
RA Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E.,
RA Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R.,
RA Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T.,
RA Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W.,
RA Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A.,
RA Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X.,
RA Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E.,
RA Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J.,
RA Adams M.D., Tsui L.-C.;
RT "Human chromosome 7: DNA sequence and biology.";
RL Science 300:767-772(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 52-440 (ISOFORM 1), AND TISSUE SPECIFICITY.
RC TISSUE=Fetal brain;
RX PubMed=10101297; DOI=10.1093/oxfordjournals.jbchem.a022354;
RA Kondo E., Horii A., Fukushige S.;
RT "The human PMS2L proteins do not interact with hMLH1, a major DNA mismatch
RT repair protein.";
RL J. Biochem. 125:818-825(1999).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] OF 52-440.
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 175-440 (ISOFORM 3), AND
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 183-440 (ISOFORM 2).
RC TISSUE=Blood, and 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).
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 185-440 (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=7980603; DOI=10.1006/bbrc.1994.2598;
RA Horii A., Han H.J., Sasaki S., Shimada M., Nakamura Y.;
RT "Cloning, characterization and chromosomal assignment of the human genes
RT homologous to yeast PMS1, a member of mismatch repair genes.";
RL Biochem. Biophys. Res. Commun. 204:1257-1264(1994).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=A4D2B8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=A4D2B8-2; Sequence=VSP_029389, VSP_029390;
CC Name=3;
CC IsoId=A4D2B8-3; Sequence=VSP_038329, VSP_038330;
CC -!- TISSUE SPECIFICITY: Highly expressed in kidney, spleen, adrenal gland,
CC ovary and cerebellum and to a lower extent in liver, esophagus,
CC stomach, duodenum, colon, bladder, uterus, lung, pancreas and cerebrum.
CC Not expressed in heart. {ECO:0000269|PubMed:10101297}.
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=AAA97458.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC Sequence=AAA97458.1; Type=Miscellaneous discrepancy; Note=Several conflicts but it is uncertain if it is due to sequencing errors or if this sequence is another copy of this gene.; Evidence={ECO:0000305};
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DR EMBL; U38964; AAA97458.1; ALT_SEQ; Genomic_DNA.
DR EMBL; CH236956; EAL23838.1; -; Genomic_DNA.
DR EMBL; AB017004; BAA74753.1; -; mRNA.
DR EMBL; CH471091; EAW76560.1; -; Genomic_DNA.
DR EMBL; BC067809; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC110395; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; D38435; BAA07470.1; -; mRNA.
DR EMBL; D38499; BAA07511.1; -; mRNA.
DR PIR; JC2398; JC2398.
DR PIR; JC2399; JC2399.
DR AlphaFoldDB; A4D2B8; -.
DR SMR; A4D2B8; -.
DR iPTMnet; A4D2B8; -.
DR PhosphoSitePlus; A4D2B8; -.
DR BioMuta; HGNC:9123; -.
DR EPD; A4D2B8; -.
DR jPOST; A4D2B8; -.
DR MassIVE; A4D2B8; -.
DR MaxQB; A4D2B8; -.
DR PeptideAtlas; A4D2B8; -.
DR PRIDE; A4D2B8; -.
DR ProteomicsDB; 643; -. [A4D2B8-1]
DR ProteomicsDB; 644; -. [A4D2B8-2]
DR ProteomicsDB; 645; -. [A4D2B8-3]
DR GeneCards; PMS2P1; -.
DR HGNC; HGNC:9123; PMS2P1.
DR MIM; 605038; gene.
DR neXtProt; NX_A4D2B8; -.
DR InParanoid; A4D2B8; -.
DR PhylomeDB; A4D2B8; -.
DR ChiTaRS; PMS2P1; human.
DR Pharos; A4D2B8; Tdark.
DR PRO; PR:A4D2B8; -.
DR Proteomes; UP000005640; Unplaced.
DR RNAct; A4D2B8; protein.
DR GO; GO:0032300; C:mismatch repair complex; IBA:GO_Central.
DR GO; GO:0032389; C:MutLalpha 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:0016301; F:kinase activity; IEA:UniProtKB-KW.
DR GO; GO:0006298; P:mismatch repair; IBA:GO_Central.
DR GO; GO:0016310; P:phosphorylation; IEA:UniProtKB-KW.
DR GO; GO:0016446; P:somatic hypermutation of immunoglobulin genes; IBA:GO_Central.
DR Gene3D; 3.30.565.10; -; 1.
DR InterPro; IPR014762; DNA_mismatch_repair_CS.
DR InterPro; IPR036890; HATPase_C_sf.
DR InterPro; IPR038973; MutL/Mlh/Pms.
DR PANTHER; PTHR10073; PTHR10073; 1.
DR SUPFAM; SSF55874; SSF55874; 1.
DR PROSITE; PS00058; DNA_MISMATCH_REPAIR_1; 1.
PE 5: Uncertain;
KW Alternative splicing; Kinase; Reference proteome; Transferase.
FT CHAIN 1..440
FT /note="Putative postmeiotic segregation increased 2-like
FT protein 1"
FT /id="PRO_0000311098"
FT DOMAIN 230..364
FT /note="Histidine kinase"
FT REGION 164..215
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 164..180
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 380..412
FT /note="KRACFPFAFCRDCQFPEASPAMLPVQPAELTPR -> PPIYSLKHVRGGPEL
FT LCKWTHCPEATMLQGSPS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_029389"
FT VAR_SEQ 380..381
FT /note="KR -> DS (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_038329"
FT VAR_SEQ 382..440
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_038330"
FT VAR_SEQ 413..440
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_029390"
FT CONFLICT 175
FT /note="E -> G (in Ref. 5; BC067809)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 440 AA; 47508 MW; C5182F4FBDF5C931 CRC64;
MVTMCGGHRP ENFLHQVLTE FGEELAGEGK SEVGGGAPRS YLQVASAECW AAAPAVHVGE
PVHAGGLHTE RGADPVIGLY LVHRGGACQT PTVGNRQTPT LGIHARPRRR ATTSLLTLLL
AFGKNAVRCA LIGPGSLTSR TRPLTEPLGE KERREVFFPP RPERVEHNVE SSRWEPRRRG
ACGSRGGNFP SPRGGSGVAS LERAESSSTE PAKAIKPIDR KSVHQICSGP VVPSLSTAVK
ELVENSLDAG ATNIDLKLKD YGVDLIEVSG NGCGVEEENF EGLTLKHHTS KIQEFADLPQ
VETFGFRGEA LSSLCALSDV TISTCHVSAK VGTRLVFDHY GKIIQKTPYP HPRGMTVSVK
QLFSTLPVHH KEFQRNIKKK RACFPFAFCR DCQFPEASPA MLPVQPAELT PRSTPPHPCS
LEDNVITVFS SVKNGPGSSR
