PMS1 - PMS1 homolog 1, mismatch repair system component Gene

Homo sapiens

Also known as MLH2; PMSL1; hPMS1; HNPCC3

Gene ID: 5378 | Gene type: protein coding

About PMS1

Cytogenetic location: 2q32.2 Genomic coordinates (GRCh38): 2:189,784,450-189,877,629 (from NCBI)

This gene has 21 transcripts (splice variants), 203 orthologues, 3 paralogues and is associated with 86 phenotypes. Ubiquitous expression in testis (RPKM 8.3), endometrium (RPKM 3.7) and 24 other tissues.

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]

PMS1 Products(12)

mRNA	Protein	Name
NM_000534.5	NP_000525.1	PMS1 protein homolog 1 isoform a
NM_001128143.2	NP_001121615.1	PMS1 protein homolog 1 isoform b
NM_001128144.2	NP_001121616.1	PMS1 protein homolog 1 isoform c
NM_001289408.2	NP_001276337.1	PMS1 protein homolog 1 isoform d
NM_001289409.2	NP_001276338.1	PMS1 protein homolog 1 isoform d
NM_001321044.2	NP_001307973.1	PMS1 protein homolog 1 isoform f
NM_001321045.2	NP_001307974.1	PMS1 protein homolog 1 isoform a
NM_001321046.2	NP_001307975.1	PMS1 protein homolog 1 isoform e
NM_001321047.2	NP_001307976.1	PMS1 protein homolog 1 isoform a
NM_001321048.2	NP_001307977.1	PMS1 protein homolog 1 isoform a
NM_001321049.2	NP_001307978.1	PMS1 protein homolog 1 isoform g
NM_001321051.2	NP_001307980.1	PMS1 protein homolog 1 isoform h

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables enzyme binding	IPI IPI: Inferred from physical interaction	26300262	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11292842	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleus	IDA IDA: Inferred from direct assay	26300262	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PMS1 Protein Structure

HATPase_c_3

DNA_mis_repair

HMG_box

0
200
400
600
800
932 a.a.

Protein Preferred Names

Protein Names

PMS1 protein homolog 1

DNA mismatch repair protein PMS1

Related Diseases

Diseases

Alias

Colorectal Cancer

Colon Cancer	Colorectal Carcinoma
Colon Carcinoma	Colorectal Cancer, Susceptibility To
Carcinoma Of Colon	CRC
Colorectal Cancer With Chromosomal Instability, Somatic	Colon Cancer, Somatic
Colon Cancer, Susceptibility To	Colonic Neoplasms
Colorectal Neoplasms	Colorectal Cancer, Somatic
Colon Cancer, Advanced, Somatic	Colonic Carcinoma
Colorectal Carcinomas	Colon Cancers
Colorectal Cancers	Cancer, Colorectal, Somatic
Cancer, Colon	Cancer, Colorectal, Susceptibility To
Colorectal Neoplasm	Colonic Neoplasm
Malignant Tumor Of Colon

Lynch Syndrome I

Lynch Syndrome 1	Colorectal Cancer, Hereditary Nonpolyposis, Type 1
HNPCC1	Fcc1
Lynch Syndrome Ii	Colon Cancer, Familial Nonpolyposis, Type 1
Coca1	Familial Nonpolyposis Colon Cancer Type 1
Hereditary Nonpolyposis Colorectal Cancer Type 1	Hereditary Non-Polyposis Colorectal Cancer 1
Hereditary Non-Polyposis Colorectal Cancer 3	Hnpcc3
Lynch Cancer Family Syndrome	Lynch Syndrome
Lynch Syndrome Type I	Lynch Syndrome Type Ii
Cancer, Colorectal, Nonpolyposis, Hereditary, Type 1	Hereditary Nonpolyposis Colorectal Cancer
Colorectal Cancer, Hereditary Nonpolyposis, Type 3	Hereditary Non-Polyposis Colon Cancer Type 2

Lynch Syndrome

Hereditary Nonpolyposis Colon Cancer	Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Carcinoma	Hereditary Nonpolyposis Colorectal Neoplasms
Familial Nonpolyposis Colon Cancer	Hnpcc
Coca 1	Hereditary Defective Mismatch Repair Syndrome
Hereditary Non-Polyposis Colon Cancer	Hereditary Non-Polyposis Colon Cancer Syndrome
Hereditary Non-Polyposis Colorectal Cancer	Hereditary Non-Polyposis Colorectal Cancer Syndrome
Hereditary Nonpolyposis Colon Cancer Syndrome	Hereditary Nonpolyposis Colorectal Cancer Syndrome
Hereditary Nonpolyposis Colorectal Neoplasm	Hnpcc - Hereditary Nonpolyposis Colon Cancer
Cancer Family Syndrome	Familial Nonpolyposis Colorectal Cancer
Colon Cancer, Familial Nonpolyposis	Colorectal Neoplasms, Hereditary Nonpolyposis
Cancer, Colorectal, Nonpolyposis, Hereditary	Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Colorectal Cancer 3

Colorectal Cancer, Susceptibility To, 3	CRCS3
Colorectal Cancer On Chromosome 18	Colorectal Cancer, Susceptibility To, On Chromosome 18
Susceptibility To Colorectal Cancer On Chromosome 18	Cancer, Colorectal, Susceptibility To, Type 3

Mismatch Repair Cancer Syndrome 1

Turcot Syndrome	Constitutional Mismatch Repair Deficiency Syndrome
Mismatch Repair Deficiency	Mmr Deficiency
MMRCS1	Cmmrds
Childhood Cancer Syndrome	Brain Tumor-Polyposis Syndrome 1
Btps1	Btp1 Syndrome
Mismatch Repair Cancer Syndrome	Childhood Cancer
Brain Tumor-Polyposis Syndrome	Cns Tumors With Familial Polyposis Of The Colon
Glioma-Polyposis Syndrome	Mmrcs
Malignant Tumors Of The Central Nervous System Associated With Familial Polyposis Of The Colon	Biallelic Mismatch Repair Deficiency Syndrome
Bmmrd	Cmmr-D Syndrome

Rectum Signet Ring Adenocarcinoma

Signet Ring Cell Adenocarcinoma Of Rectum

Sebaceous Adenocarcinoma

Sebaceous Carcinoma	Adenocarcinoma Of The Sebaceous Gland
Malignant Neoplasm Of Sebaceous Gland	Malignant Sebaceous Tumor
Adenocarcinoma, Sebaceous	Malignant Sebaceous Neoplasm
Sebaceous Gland Neoplasms

Colorectal Cancer, Hereditary Nonpolyposis, Type 6

HNPCC6	Hereditary Nonpolyposis Colorectal Cancer Type 6
Colon Cancer, Hereditary Nonpolyposis, Type 6	Hereditary Non-Polyposis Colorectal Cancer 6
Cancer, Colorectal, Nonpolyposis, Hereditary, Type 6

Mismatch Repair Cancer Syndrome

Turcot Syndrome	Brain Tumor-Polyposis Syndrome 1
Btp1 Syndrome	Btps1
Childhood Cancer Syndrome	Cmmr-D Syndrome
Cmmrds	Constitutional Mismatch Repair Deficiency Syndrome
Mmr Deficiency	Cancer Syndrome, Mismatch Repair
Malignant Childhood Neoplasm

Muir-Torre Syndrome

MRTES	Keratoacanthoma
Muir-Torré Syndrome	Cutaneous Sebaceous Neoplasms And Keratoacanthomas, Multiple, With Gastrointestinal And Other Carcinomas
Cutaneous Sebaceous Neoplasms And Keratoacanthomas Multiple With Gastrointestinal And Other Carcinomas	Multiple Keratoacanthoma, Muir-Torre Type
Mts	Torre-Muir Syndrome

Familial Adenomatous Polyposis

Adenomatous Polyposis Coli	Fap
Familial Polyposis Coli	Familial Multiple Polyposis Syndrome
Adenomatous Polyposis Of The Colon	Familial Intestinal Polyposis
Fpc	Familial Adenomatous Polyposis Of The Colon
Familial Multiple Polyposis	Familial Polyposis Of The Colon
Hereditary Polyposis Coli	Polyposis, Adenomatous Intestinal
Adenomatous Familial Polyposis	Adenomatous Familial Polyposis Syndrome
Myh-Associated Polyposis	Colorectal Adenomatous Polyposis
Adenomatous Polyposis, Familial	Mutyh-Associate Polyposis

Colorectal Cancer, Hereditary Nonpolyposis, Type 7

HNPCC7	Hereditary Nonpolyposis Colorectal Cancer Type 7
Hereditary Non-Polyposis Colorectal Cancer 7	Cancer, Colorectal, Nonpolyposis, Hereditary, Type 7

Gastrointestinal Adenoma

Gi Adenoma

Digestive System Adenoma

Sebaceous Gland Neoplasm

Sebaceous Gland Neoplasms

Sebaceous Neoplasm

Colorectal Cancer, Hereditary Nonpolyposis, Type 4

HNPCC4	Hereditary Nonpolyposis Colorectal Cancer Type 4
Hereditary Non-Polyposis Colorectal Cancer 4	Cancer, Colorectal, Nonpolyposis, Hereditary, Type 4

Sebaceous Adenoma

Adenoma Of The Sebaceous Gland

Skin Appendage Sebaceous Adenoma

Meier-Gorlin Syndrome 2

MGORS2

Meier-Gorlin Syndrome, Type 2

Epilepsy, Idiopathic Generalized 9

Epilepsy, Idiopathic Generalized, Susceptibility To, 9	EIG9
Epilepsy, Juvenile Myoclonic 6	Idiopathic Generalized Epilepsy 9
Epilepsy, Juvenile Myoclonic, Susceptibility To, 6	Susceptibility To Idiopathic Generalized Epilepsy 9
Juvenile Myoclonic Epilepsy 6	EJM6
Susceptibility To Juvenile Myoclonic Epilepsy 6	Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 9

Cowden Syndrome 1

Bannayan-Riley-Ruvalcaba Syndrome	Pten Hamartoma Tumor Syndrome
Lhermitte-Duclos Disease	Bannayan-Zonana Syndrome
Phts	Riley-Smith Syndrome
Bzs	Ruvalcaba-Myhre-Smith Syndrome
Multiple Hamartoma Syndrome	Rmss
Brrs	Dysplastic Gangliocytoma Of The Cerebellum
CWS1	Cs
Cd	Mham
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor	Macrocephaly Multiple Lipomas And Hemangiomata
Bannayan-Ruvalcaba-Riley Syndrome	Myhre-Riley-Smith Syndrome
LDD	Cerebelloparenchymal Disorder Vi
Hamartoma Syndrome, Multiple	Bbrs
Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata	Macrocephaly, Multiple Lipomas, And Hemangiomata
Macrocephaly Pseudopapilledema And Multiple Hemangiomas	Ruvalcaba -Myhre-Smith Syndrome
Ruvalcaba-Myhre Syndrome	Cowden Disease
Macrocephaly Pseudopapilledema And Multiple Hemangiomata	Cerebellar Granule Cell Hypertrophy And Megalencephaly
Cpd6	Pten Hamartoma Tumor Syndromes
Cowden Syndrome, Type 1

Medullary Colon Carcinoma

Juvenile Polyposis Syndrome

JPS	Juvenile Intestinal Polyposis
Jip	Pji
Juvenile Gastrointestinal Polyposis	Juvenile Polyposis
Polyposis, Juvenile Intestinal	Polyposis, Familial, Of Entire Gastrointestinal Tract
Polyposis Familial Of Entire Gastrointestinal Tract	Polyposis Juvenile Intestinal
Polyposis Syndrome, Juvenile

Ovarian Cancer

Ovarian Carcinoma	Ovarian Neoplasm
Malignant Tumour Of Ovary	Cancer Of The Ovary
Epithelial Ovarian Cancer	Neoplasm Of Ovary
Ovarian Neoplasms	Ovarian Cancers
Malignant Neoplasm Of Ovary	Primary Malignant Neoplasm Of Ovary
Ovarian Cancer, Somatic	Malignant Ovarian Tumor
Ovary Neoplasm	Primary Ovarian Cancer
Tumor Of The Ovary	Malignant Neoplasm Of The Ovary
Malignant Tumor Of The Ovary	Ovarian Malignant Tumor
OC	Ovarian Carcinomas
Cancer, Ovarian	Cancer Of Ovary
Ovary Cancer	Ca Ovary

Cowden Syndrome

Cowden Disease	Multiple Hamartoma Syndrome
Cowden'S Disease	Lhermitte-Duclos Disease
Cd	Cs
Mham	Dysplastic Gangliocytoma Of Cerebellum
Cowden'S Syndrome	Hamartoma Syndrome, Multiple

Hereditary Breast Ovarian Cancer Syndrome

Hereditary Breast And Ovarian Cancer Syndrome	Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer
Breast And/Or Ovarian Cancer	Breast And Ovarian Cancer Syndrome
Hboc Syndrome	Hereditary Breast And Ovarian Cancer
Brca1- Brca2-Associated Hboc

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-D0937	Methoxy-PMS		98.34%	Unkown
HY-RS10772	PMS1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PMS1	VGNC	VGNC:80312
Macaca mulatta	PMS1	VGNC	VGNC:81506
Rattus norvegicus	PMS1	RGD	RGD:1359511
Mus musculus	PMS1	MGD	MGI:1202302
Canis familiaris	PMS1	VGNC	VGNC:44738
Bos taurus	PMS1	VGNC	VGNC:33077

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