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Protein

Protein PMS2CL

Gene

PMS2CL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Protein PMS2CL
Alternative name(s):
PMS2-C terminal-like protein
Gene namesi
Name:PMS2CL
Synonyms:PMS2P13
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Unplaced

Organism-specific databases

HGNCiHGNC:30061. PMS2CL.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Polymorphism and mutation databases

DMDMi74708797.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 193193Protein PMS2CLPRO_0000295769Add
BLAST

Proteomic databases

EPDiQ68D20.
MaxQBiQ68D20.
PRIDEiQ68D20.

PTM databases

iPTMnetiQ68D20.

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

InParanoidiQ68D20.

Family and domain databases

InterProiIPR028831. Pms1/Pms2/PMS2L.
[Graphical view]
PANTHERiPTHR10073:SF39. PTHR10073:SF39. 1 hit.

Sequencei

Sequence statusi: Complete.

Q68D20-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MHAADLEKPM VEKQDQSPSL RTGEEKRDVS ISRLREAFSL RHTTENKPHS
60 70 80 90 100
PKTPEPRRSP LGQKRGMSSS STSDAISDRG VLRPQKEAVS SSQGPSDPTD
110 120 130 140 150
RAEVEKDSGH GSTSVDSEGF SIPDTGSHCS SECVASTPGD RGSQEHVDSQ
160 170 180 190
EKAPETDDSF SDVDCHSNQE DTGCKFQVLP QPTNLTSPNT KVF
Length:193
Mass (Da):20,909
Last modified:October 11, 2004 - v1
Checksum:iA7499934F0F1A8FE
GO

Sequence cautioni

The sequence BAC81643.1 differs from that shown.Wrong choice of transcript.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti79 – 791R → K in BAC81643 (PubMed:15256438).Curated
Sequence conflicti79 – 791R → K in BAG59100 (PubMed:14702039).Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB116525 mRNA. Translation: BAC81643.1. Sequence problems.
AK296451 mRNA. Translation: BAG59100.1.
CR749616 mRNA. Translation: CAH18410.1.
UniGeneiHs.715590.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB116525 mRNA. Translation: BAC81643.1. Sequence problems.
AK296451 mRNA. Translation: BAG59100.1.
CR749616 mRNA. Translation: CAH18410.1.
UniGeneiHs.715590.

3D structure databases

ModBaseiSearch...
MobiDBiSearch...

PTM databases

iPTMnetiQ68D20.

Polymorphism and mutation databases

DMDMi74708797.

Proteomic databases

EPDiQ68D20.
MaxQBiQ68D20.
PRIDEiQ68D20.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Organism-specific databases

GeneCardsiPMS2CL.
H-InvDBHIX0020688.
HGNCiHGNC:30061. PMS2CL.
neXtProtiNX_Q68D20.
GenAtlasiSearch...

Phylogenomic databases

InParanoidiQ68D20.

Miscellaneous databases

PROiQ68D20.

Family and domain databases

InterProiIPR028831. Pms1/Pms2/PMS2L.
[Graphical view]
PANTHERiPTHR10073:SF39. PTHR10073:SF39. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation."
    Nakagawa H., Lockman J.C., Frankel W.L., Hampel H., Steenblock K., Burgart L.J., Thibodeau S.N., de la Chapelle A.
    Cancer Res. 64:4721-4727(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Thalamus.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Fetal brain.
  4. "Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome."
    De Vos M., Hayward B.E., Picton S., Sheridan E., Bonthron D.T.
    Am. J. Hum. Genet. 74:954-964(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION.

Entry informationi

Entry nameiPMS2L_HUMAN
AccessioniPrimary (citable) accession number: Q68D20
Secondary accession number(s): B4DK88, Q764P1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 24, 2007
Last sequence update: October 11, 2004
Last modified: March 16, 2016
This is version 82 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Caution

According to PubMed:15077197, it is a pseudogene. However, a peptide specific to this protein was identified by mass spectrometry (PubMed:17525332). Given that the product described by PubMed:15077197 is located downstream and on another frame of the transcript, it may explain why PubMed:15256438 could not detect this protein on a Western blot.Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.