Reviewed, UniProtKB/Swiss-Prot Q68D20 (PMS2L_HUMAN)

Names and origin

Protein names

Recommended name:
    Protein PMS2CL
Alternative name(s):
    PMS2-C terminal-like protein

Gene names

Name:

PMS2CL

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	193 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Post-translational modification	Phosphorylated upon DNA damage, probably by ATM or ATR. Ref.5
Sequence similarities	Belongs to the DNA mismatch repair mutL/hexB family.
Caution	According to Ref.4, it is a pseudogene. However, a peptide specific to this protein was identified by mass spectrometry (Ref.5). Given that the product described by Ref.4 is located downstream and on another frame of the transcript, it may explain why Ref.1 could not detect this protein on a Western blot.
Sequence caution	The sequence AAH41364.1 differs from that shown. Reason: Miscellaneous discrepancy. Wrong choice of transcript. The sequence BAC81643.1 differs from that shown. Reason: Miscellaneous discrepancy. Wrong choice of transcript.

Ontologies

Keywords
PTM	Phosphoprotein
Gene Ontology (GO)
Biological process	mismatch repair Inferred from electronic annotation. Source: InterPro
Molecular function	ATP binding Inferred from electronic annotation. Source: InterPro mismatched DNA binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 193	193	Protein PMS2CL		PRO_0000295769
Amino acid modifications
	Modified residue	92	1	Phosphoserine Ref.5
Experimental info
	Sequence conflict	79	1	R → K in BAC81643. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q68D20-1 [UniParc]. Last modified October 11, 2004. Version 1. Checksum: A7499934F0F1A8FE	FASTA	193	20,909
	10 20 30 40 50 60 MHAADLEKPM VEKQDQSPSL RTGEEKRDVS ISRLREAFSL RHTTENKPHS PKTPEPRRSP 70 80 90 100 110 120 LGQKRGMSSS STSDAISDRG VLRPQKEAVS SSQGPSDPTD RAEVEKDSGH GSTSVDSEGF 130 140 150 160 170 180 SIPDTGSHCS SECVASTPGD RGSQEHVDSQ EKAPETDDSF SDVDCHSNQE DTGCKFQVLP 190 QPTNLTSPNT KVF

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: 15256438] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Blocker H., Heubner D., Hoerlein A., Michel G., Wedler H., Kohrer K., Ottenwalder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Fetal brain.
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Testis.
[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: 15077197] [Abstract] Cited for: IDENTIFICATION.
[5]	"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage." Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J. Science 316:1160-1166(2007) [PubMed: 17525332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-92, MASS SPECTROMETRY.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AB116525 mRNA. Translation: BAC81643.1. Sequence problems. CR749616 mRNA. Translation: CAH18410.1. BC041364 mRNA. Translation: AAH41364.1. Sequence problems.
IPI	IPI00470814.
UniGene	Hs.73105
3D structure databases
ModBase	Search...
Proteomic databases
PRIDE	Q68D20.
Genome annotation databases
Ensembl	ENSG00000187953. Homo sapiens. [Contig view]
Organism-specific databases
GeneCards	GC07P006741.
HGNC	HGNC:30061. PMS2CL.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q68D20.
HOVERGEN	Q68D20.
Gene expression databases
ArrayExpress	Q68D20.
Bgee	Q68D20.
Family and domain databases
InterPro	IPR002099. DNA_mismatch_repair. [Graphical view]
PANTHER	PTHR10073. DNA_mis_repair. 1 hit.
ProtoNet	Search...

Entry information

Entry name

PMS2L_HUMAN

Accession

Primary (citable) accession number: Q68D20
Secondary accession number(s): Q764P1

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 24, 2007
Last sequence update:	October 11, 2004
Last modified:	May 5, 2009
This is version 27 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)