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Term
Gene name

Class

Subclass

Chromosome

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In atlas

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Reliability

Reliability

Validation

Method

Validation

Method

Validation

Method

Validation

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Searches

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Cell type

Expression

Tissue

Specificity

Cell line

Specificity

Cancer

Specificity

Tissue

Detectable

Cell line

Detectable

Cancer

Detectable

Cancer

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PMS1
  • TISSUE

  • premium

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TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation


Dictionary


Tissue proteome

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
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

Evidence at protein level

Protein expression

Cytoplasmic and nuclear expression in several tissues.

DATA RELIABILITY

Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Reliability score

Approved based on 1 antibody.
CAB010233
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM) Protein expression (score)
Brain
Cerebral cortex
Hippocampus
N/A
Caudate
N/A
Cerebellum
N/A
Endocrine tissues
Thyroid gland
Parathyroid gland
Adrenal gland
Bone marrow & immune system
Appendix
Bone marrow
Lymph node
Tonsil
Spleen
Muscle tissues
Heart muscle
Skeletal muscle
Smooth muscle
Lung
Nasopharynx
N/A
Bronchus
N/A
N/A
Lung
Liver & gallbladder
Liver
Gallbladder
Pancreas
Pancreas
Gastrointestinal tract
Oral mucosa
N/A
Salivary gland
Esophagus
Stomach
Duodenum
Small intestine
Colon
Rectum
Kidney & urinary bladder
Kidney
Urinary bladder
Male tissues
Testis
Epididymis
Prostate
Seminal vesicle
Female tissues
Breast
Vagina
N/A
Cervix, uterine
Endometrium
Fallopian tube
Ovary
Placenta
Adipose & soft tissue
Adipose tissue
Soft tissue
N/A
Skin
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW

Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW

HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

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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