1. Gene
  2. PMS1 - PMS1 homolog 1, mismatch repair system component Gene

PMS1 - PMS1 homolog 1, mismatch repair system component Gene

中文名称:PMS1 同源物 1,错配修复系统成分

种属: Homo sapiens

同用名: MLH2; PMSL1; hPMS1; HNPCC3

基因 ID: 5378 | 基因类型: protein coding

关于 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.

功能概要

该基因编码属于 DNA 错配修复 mutL/hexB 家族的蛋白质。这种蛋白质被认为参与了 DNA 错配的修复,它可以与 MLH1 (一种已知的 DNA 错配修复蛋白) 形成异二聚体。该基因的突变单独或与涉及 HNPCC 表型 (也称为林奇综合征) 的其他基因突变联合导致遗传性非息肉病性结直肠癌 3 型 (HNPCC3) 。[RefSeq 提供,2008 年 7 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables enzyme binding IPI
IPI: 通过物理相互作用推断
26300262 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11292842 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
26300262 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

PMS1 蛋白结构

HATPase_c_3

HATPase_c_3: Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (22 - 122)

DNA_mis_repair

DNA_mis_repair: DNA mismatch repair protein, C-terminal domain (210 - 336)

HMG_box

HMG_box: HMG (high mobility group) box (571 - 637)

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  • 932 a.a.
蛋白主名 其他名称

PMS1 protein homolog 1

DNA mismatch repair protein PMS1

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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