Expression of PMS1 in cancer - Summary - The Human Protein Atlas

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PMS1

TISSUE

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CELL

PATHOLOGY

PATHOLOGY ATLAS

GENE/PROTEIN

Antibody validation

Dictionary


Level of antibody staining/expression
	High Medium Low Not detected

GENERAL INFORMATION
Gene name	PMS1
Gene description	PMS1 homolog 1, mismatch repair system component
Protein class	Cancer-related genes Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	15
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HUMAN PROTEIN ATLAS INFORMATION

RNA category

TCGA (cancer tissue):	Expressed in all
HPA (cell line):	Expressed in all
HPA (normal tissue):	Expressed in all

Protein evidence

Evidence at protein level

Protein expression
normal tissue

Cytoplasmic and nuclear expression in several tissues.

ANTIBODY IHC RELIABILITY
Data reliability description	Antibody staining mainly consistent with RNA expression data.
Reliability score	Approved based on 1 antibody. CAB010233
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PROGNOSTIC SUMMARY
Prognostic marker in renal cancer (unfavourable), liver cancer (unfavourable) and urothelial cancer (favourable).
Renal cancer p<0.001 Liver cancer p<0.001 Urothelial cancer p<0.001 Show all

RNA EXPRESSION OVERVIEW
TCGA dataset RNA cancer category: Expressed in all

PROTEIN EXPRESSION

Colorectal cancer

Prostate cancer

STAINING SUMMARY

CAB010233

GENE INFORMATION
Gene name	PMS1 (HGNC Symbol)
Synonyms	MLH2, PMSL1
Description	PMS1 homolog 1, mismatch repair system component (HGNC Symbol)
Entrez gene summary	This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair protein. Mutations in this gene cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch syndrome. [provided by RefSeq, Jul 2008]
Chromosome	2
Cytoband	q32.2
Chromosome location (bp)	189784085 - 189877629
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000064933 (version 83.38)
Entrez gene	5378
UniProt	P54277 (UniProt - Evidence at protein level)
neXtProt	NX_P54277
Antibodypedia	PMS1 antibodies

PROTEIN BROWSER

PMS1-001	PMS1-003	PMS1-004	PMS1-006	PMS1-007	PMS1-010	PMS1-011	PMS1-013	PMS1-014	PMS1-015	PMS1-016	PMS1-201	PMS1-202	PMS1-203	PMS1-204

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
PMS1-001 ENSP00000406490 ENST00000441310	P54277 [Direct mapping] PMS1 protein homolog 1 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0003677 [DNA binding] GO:0003697 [single-stranded DNA binding] GO:0005524 [ATP binding] GO:0005634 [nucleus] GO:0006298 [mismatch repair] GO:0016887 [ATPase activity] GO:0030983 [mismatched DNA binding] GO:0032389 [MutLalpha complex] Show all	932 aa 105.8 kDa	No	0
PMS1-003 ENSP00000387125 ENST00000409823	P54277 [Direct mapping] PMS1 protein homolog 1 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0003677 [DNA binding] GO:0003697 [single-stranded DNA binding] GO:0005524 [ATP binding] GO:0005634 [nucleus] GO:0006298 [mismatch repair] GO:0016887 [ATPase activity] GO:0030983 [mismatched DNA binding] GO:0032389 [MutLalpha complex] Show all	893 aa 101.4 kDa	No	0
PMS1-004 ENSP00000386623 ENST00000409985	E9PC40 [Direct mapping] PMS1 protein homolog 1 Show all	Phobius predicted membrane proteins Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0003697 [single-stranded DNA binding] GO:0016887 [ATPase activity] GO:0032389 [MutLalpha complex] Show all	181 aa 19.9 kDa	No	0
PMS1-006 ENSP00000389938 ENST00000424307	E9PC65 [Direct mapping] PMS1 protein homolog 1 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0003697 [single-stranded DNA binding] GO:0005524 [ATP binding] GO:0006298 [mismatch repair] GO:0016887 [ATPase activity] GO:0030983 [mismatched DNA binding] GO:0032389 [MutLalpha complex] Show all	711 aa 80.5 kDa	No	0
PMS1-007 ENSP00000363959 ENST00000374826	Q5XG96 [Direct mapping] PMS1 protein; PMS1 protein homolog 1 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0003697 [single-stranded DNA binding] GO:0016887 [ATPase activity] GO:0032389 [MutLalpha complex] Show all	165 aa 17.8 kDa	No	0
PMS1-010 ENSP00000401064 ENST00000447232	P54277 [Direct mapping] PMS1 protein homolog 1 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0003677 [DNA binding] GO:0003697 [single-stranded DNA binding] GO:0005524 [ATP binding] GO:0005634 [nucleus] GO:0006298 [mismatch repair] GO:0016887 [ATPase activity] GO:0030983 [mismatched DNA binding] GO:0032389 [MutLalpha complex] Show all	770 aa 86.6 kDa	No	0
PMS1-011 ENSP00000387169 ENST00000409593	P54277 [Direct mapping] PMS1 protein homolog 1 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0003677 [DNA binding] GO:0003697 [single-stranded DNA binding] GO:0005524 [ATP binding] GO:0005634 [nucleus] GO:0006298 [mismatch repair] GO:0016887 [ATPase activity] GO:0030983 [mismatched DNA binding] GO:0032389 [MutLalpha complex] Show all	555 aa 62.9 kDa	No	0
PMS1-013 ENSP00000413837 ENST00000446877	C9JKP0 [Direct mapping] PMS1 protein homolog 1 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0003697 [single-stranded DNA binding] GO:0016887 [ATPase activity] GO:0032389 [MutLalpha complex] Show all	44 aa 4.6 kDa	No	0
PMS1-014 ENSP00000410082 ENST00000424766	C9JF76 [Direct mapping] PMS1 protein homolog 1 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0003697 [single-stranded DNA binding] GO:0016887 [ATPase activity] GO:0032389 [MutLalpha complex] Show all	194 aa 21.4 kDa	No	0
PMS1-015 ENSP00000391136 ENST00000420421	C9J4L1 [Direct mapping] PMS1 protein homolog 1 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0003697 [single-stranded DNA binding] GO:0016887 [ATPase activity] GO:0032389 [MutLalpha complex] Show all	73 aa 7.9 kDa	No	0
PMS1-016 ENSP00000396232 ENST00000452382	E9PH88 [Direct mapping] PMS1 protein homolog 1 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0003697 [single-stranded DNA binding] GO:0016887 [ATPase activity] GO:0032389 [MutLalpha complex] Show all	266 aa 31.1 kDa	No	0
PMS1-201 ENSP00000404492 ENST00000418224	Q5FBZ9 [Direct mapping] PMS1 nirs variant 1; PMS1 protein homolog 1 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0003697 [single-stranded DNA binding] GO:0005524 [ATP binding] GO:0006298 [mismatch repair] GO:0016887 [ATPase activity] GO:0030983 [mismatched DNA binding] GO:0032389 [MutLalpha complex] Show all	667 aa 75.1 kDa	No	0
PMS1-202 ENSP00000398378 ENST00000432292	B7ZAA0 [Direct mapping] PMS1 protein homolog 1; cDNA, FLJ79114, highly similar to PMS1 protein homolog 1 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0003697 [single-stranded DNA binding] GO:0005524 [ATP binding] GO:0006298 [mismatch repair] GO:0016887 [ATPase activity] GO:0030983 [mismatched DNA binding] GO:0032389 [MutLalpha complex] Show all	756 aa 86.6 kDa	No	0
PMS1-203 ENSP00000480632 ENST00000618056	Q5FBZ4 [Direct mapping] PMS1 nirs variant 6; PMS1 protein homolog 1 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0003697 [single-stranded DNA binding] GO:0016887 [ATPase activity] GO:0032389 [MutLalpha complex] Show all	248 aa 27.8 kDa	No	0
PMS1-204 ENSP00000485312 ENST00000624204	B7ZAA0 [Direct mapping] PMS1 protein homolog 1; cDNA, FLJ79114, highly similar to PMS1 protein homolog 1 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0003697 [single-stranded DNA binding] GO:0005524 [ATP binding] GO:0006298 [mismatch repair] GO:0016887 [ATPase activity] GO:0030983 [mismatched DNA binding] GO:0032389 [MutLalpha complex] Show all	756 aa 86.6 kDa	No	0

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The Human Protein Atlas

The Human Protein Atlas project is funded
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