PMS2L_HUMAN
ID PMS2L_HUMAN Reviewed; 193 AA.
AC Q68D20; B4DK88; Q764P1;
DT 24-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 11-OCT-2004, sequence version 1.
DT 25-MAY-2022, entry version 102.
DE RecName: Full=Protein PMS2CL;
DE AltName: Full=PMS2-C terminal-like protein;
GN Name=PMS2CL; Synonyms=PMS2P13;
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 [MRNA].
RX PubMed=15256438; DOI=10.1158/0008-5472.can-03-2879;
RA Nakagawa H., Lockman J.C., Frankel W.L., Hampel H., Steenblock K.,
RA Burgart L.J., Thibodeau S.N., de la Chapelle A.;
RT "Mismatch repair gene PMS2: disease-causing germline mutations are frequent
RT in patients whose tumors stain negative for PMS2 protein, but paralogous
RT genes obscure mutation detection and interpretation.";
RL Cancer Res. 64:4721-4727(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Thalamus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Fetal brain;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [4]
RP IDENTIFICATION.
RX PubMed=15077197; DOI=10.1086/420796;
RA De Vos M., Hayward B.E., Picton S., Sheridan E., Bonthron D.T.;
RT "Novel PMS2 pseudogenes can conceal recessive mutations causing a
RT distinctive childhood cancer syndrome.";
RL Am. J. Hum. Genet. 74:954-964(2004).
CC -!- SIMILARITY: Belongs to the DNA mismatch repair MutL/HexB family.
CC {ECO:0000305}.
CC -!- CAUTION: According to PubMed:15077197, it is a pseudogene. However, a
CC peptide specific to this protein was identified by mass spectrometry
CC (PubMed:17525332). Given that the product described by PubMed:15077197
CC is located downstream and on another frame of the transcript, it may
CC explain why PubMed:15256438 could not detect this protein on a Western
CC blot. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC81643.1; Type=Miscellaneous discrepancy; Note=Wrong choice of transcript.; Evidence={ECO:0000305};
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DR EMBL; AB116525; BAC81643.1; ALT_SEQ; mRNA.
DR EMBL; AK296451; BAG59100.1; -; mRNA.
DR EMBL; CR749616; CAH18410.1; -; mRNA.
DR AlphaFoldDB; Q68D20; -.
DR IntAct; Q68D20; 1.
DR iPTMnet; Q68D20; -.
DR PhosphoSitePlus; Q68D20; -.
DR BioMuta; HGNC:30061; -.
DR DMDM; 74708797; -.
DR EPD; Q68D20; -.
DR jPOST; Q68D20; -.
DR MassIVE; Q68D20; -.
DR MaxQB; Q68D20; -.
DR PeptideAtlas; Q68D20; -.
DR PRIDE; Q68D20; -.
DR ProteomicsDB; 66046; -.
DR GeneCards; PMS2CL; -.
DR HGNC; HGNC:30061; PMS2CL.
DR neXtProt; NX_Q68D20; -.
DR InParanoid; Q68D20; -.
DR PathwayCommons; Q68D20; -.
DR SignaLink; Q68D20; -.
DR ChiTaRS; PMS2CL; human.
DR Pharos; Q68D20; Tdark.
DR PRO; PR:Q68D20; -.
DR Proteomes; UP000005640; Unplaced.
DR RNAct; Q68D20; protein.
PE 2: Evidence at transcript level;
KW Reference proteome.
FT CHAIN 1..193
FT /note="Protein PMS2CL"
FT /id="PRO_0000295769"
FT REGION 1..193
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..54
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 63..78
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 113..138
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 144..169
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 170..193
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 79
FT /note="R -> K (in Ref. 1; BAC81643 and 2; BAG59100)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 193 AA; 20909 MW; A7499934F0F1A8FE CRC64;
MHAADLEKPM VEKQDQSPSL RTGEEKRDVS ISRLREAFSL RHTTENKPHS PKTPEPRRSP
LGQKRGMSSS STSDAISDRG VLRPQKEAVS SSQGPSDPTD RAEVEKDSGH GSTSVDSEGF
SIPDTGSHCS SECVASTPGD RGSQEHVDSQ EKAPETDDSF SDVDCHSNQE DTGCKFQVLP
QPTNLTSPNT KVF
