PMS1 - PMS1 homolog 1, mismatch repair system component Gene

Also Known as MLH2; PMSL1; hPMS1; HNPCC3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5378

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	References	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	References	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

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-D0937	Methoxy-PMS		99.32%	Unkown
HY-RS10772	PMS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	PMS1	NCBI