Description: | mutL homolog 1 [Source:HGNC Symbol;Acc:HGNC:7127] |
Synonyms: | HNPCC, COCA2, hMLH1, HNPCC2, FCC2 |
Other ID(s): | HGNC:7127, ENSG00000076242 |
Protein Accession Numbers: | NP_001341557, ENST00000441265, ENST00000458009, NP_001245200, NP_001341549, NP_001341554, ENST00000429117, ENST00000455445, NP_001161089, NP_001341546, NP_001341559, ENST00000231790.2, ENST00000447829, ENST00000536378, NP_001245203, NP_001341551, NP_001341556, ENST00000435176, ENST00000457004, NP_001161091, NP_001341548, ENST00000413740, ENST00000454028, NP_000240, NP_001341545, NP_001341553, NP_001341558, ENST00000231790, ENST00000442249, ENST00000458205, NP_001245202, NP_001341550, NP_001341555, ENST00000432299, ENST00000456676, NP_001161090, NP_001341547, ENST00000413212, ENST00000450420, ENST00000539477, NP_001341544, NP_001341552 |
Statistics: | gnomAD(153) |
∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000231790
ENST00000413212
ENST00000413740
ENST00000429117
ENST00000432299
ENST00000435176
ENST00000441265
ENST00000442249
ENST00000447829
ENST00000450420
ENST00000454028
ENST00000455445
ENST00000456676
ENST00000457004
ENST00000458009
ENST00000458205
ENST00000536378
ENST00000539477
NP_000240
NP_001161089
NP_001161090
NP_001161091
NP_001245200
NP_001245202
NP_001245203
NP_001341544
Pfam Domain filter_list | Domain Name filter_list | Description filter_list | Positions filter_list | Clan filter_list | Clan Name filter_list | Organism filter_list |
---|---|---|---|---|---|---|
NO RESULT FOUND | ||||||
PF01119 | DNA_mis_repair | DNA mismatch repair protein, C-terminal domain | 216-335 | CL0329 | S5 | Mus musculus |
PF16413 | Mlh1_C | DNA mismatch repair protein Mlh1 C-terminus | 506-760 | Mus musculus | ||
PF02518 | HATPase_c | Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase | 24-155 | CL0025 | His_Kinase_A | Mus musculus |
Disease Name filter_list | Disease Category filter_list | DSI* filter_list | DPI** filter_list | ||
---|---|---|---|---|---|
Malignant Neoplasms | Neoplasms ; | 0.424 | 0.759 | ||
Malignant tumor of colon | Neoplasms ; Digestive System Diseases ; | 0.424 | 0.759 | ||
Malignant neoplasm of endometrium | N/A | 0.424 | 0.759 | ||
Colonic Neoplasms | Neoplasms ; Digestive System Diseases ; | 0.424 | 0.759 | ||
Colorectal Carcinoma | Neoplasms ; Digestive System Diseases ; | 0.424 | 0.759 | ||
Colorectal Neoplasms | Neoplasms ; Digestive System Diseases ; | 0.424 | 0.759 | ||
Hereditary Nonpolyposis Colorectal Neoplasms | Neoplasms ; Digestive System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; | 0.424 | 0.759 | ||
Gastrointestinal Neoplasms | Neoplasms ; Digestive System Diseases ; | 0.424 | 0.759 | ||
Lymphoma | Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; | 0.424 | 0.759 | ||
Malignant neoplasm of stomach | Neoplasms ; Digestive System Diseases ; | 0.424 | 0.759 | ||
Neoplasm Metastasis | Neoplasms ; Pathological Conditions, Signs and Symptoms ; | 0.424 | 0.759 | ||
Neurofibromatosis 1 | Neoplasms ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; | 0.424 | 0.759 | ||
Ovarian Carcinoma | N/A | 0.424 | 0.759 | ||
Prostatic Neoplasms | Neoplasms ; Male Urogenital Diseases ; | 0.424 | 0.759 | ||
Central Nervous System Neoplasms | Neoplasms ; Nervous System Diseases ; | 0.424 | 0.759 | ||
Adenocarcinoma of lung (disorder) | Neoplasms ; Respiratory Tract Diseases ; | 0.424 | 0.759 | ||
Malignant neoplasm of brain | Neoplasms ; Nervous System Diseases ; | 0.424 | 0.759 | ||
Turcot syndrome (disorder) | Neoplasms ; Digestive System Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; | 0.424 | 0.759 | ||
Gastric Adenocarcinoma | N/A | 0.424 | 0.759 | ||
Breast Cancer, Familial | Neoplasms ; Skin and Connective Tissue Diseases ; | 0.424 | 0.759 | ||
Carcinoma in situ of endometrium | N/A | 0.424 | 0.759 | ||
Malignant Central Nervous System Neoplasm | N/A | 0.424 | 0.759 | ||
Malignant neoplasm of prostate | Neoplasms ; Male Urogenital Diseases ; | 0.424 | 0.759 | ||
Hematologic Neoplasms | Neoplasms ; Hemic and Lymphatic Diseases ; | 0.424 | 0.759 | ||
Endometrial Carcinoma | Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; | 0.424 | 0.759 | ||
Neoplasm of uncertain or unknown behavior of ovary | N/A | 0.424 | 0.759 | ||
Colon Carcinoma | N/A | 0.424 | 0.759 | ||
ovarian neoplasm | Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; Endocrine System Diseases ; | 0.424 | 0.759 | ||
Hereditary non-polyposis colorectal cancer syndrome | N/A | 0.424 | 0.759 | ||
Malignant neoplasm of ovary | Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; Endocrine System Diseases ; | 0.424 | 0.759 | ||
Adenocarcinoma of large intestine | N/A | 0.424 | 0.759 | ||
Torre-Muir syndrome | Neoplasms ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; | 0.424 | 0.759 | ||
Hereditary Nonpolyposis Colorectal Cancer | Neoplasms ; Digestive System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; | 0.424 | 0.759 | ||
Hereditary Non-Polyposis Colon Cancer Type 2 | Neoplasms ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; | 0.424 | 0.759 | ||
Colorectal Cancer | Neoplasms ; Digestive System Diseases ; | 0.424 | 0.759 | ||
Intellectual Disability | Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; | 0.424 | 0.759 | ||
NO RESULT FOUND |