Gene Symbol | MLH1 |
Entrez ID | 4292 |
Uniprot ID | P40692 |
Description | mutL homolog 1 |
Chromosomal Location | chr3: 36,993,332-37,050,918 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0000289 |
nuclear-transcribed mRNA poly(A) tail shortening |
Shortening of the poly(A) tail of a nuclear-transcribed mRNA from full length to an oligo(A) length. |
IEA |
BP |
GO:0000712 |
resolution of meiotic recombination intermediates |
The cleavage and rejoining of intermediates, such as Holliday junctions, formed during meiotic recombination to produce two intact molecules in which genetic material has been exchanged. |
IEA |
BP |
GO:0006298 |
mismatch repair |
A system for the correction of errors in which an incorrect base, which cannot form hydrogen bonds with the corresponding base in the parent strand, is incorporated into the daughter strand. The mismatch repair system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination. |
IGI|TAS |
BP |
GO:0006303 |
double-strand break repair via nonhomologous end joining |
The repair of a double-strand break in DNA in which the two broken ends are rejoined with little or no sequence complementarity. Information at the DNA ends may be lost due to the modification of broken DNA ends. This term covers instances of separate pathways, called classical (or canonical) and alternative nonhomologous end joining (C-NHEJ and A-NHEJ). These in turn may further branch into sub-pathways, but evidence is still unclear. |
IEA |
BP |
GO:0007060 |
male meiosis chromosome segregation |
The cell cycle process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets during the meiotic cell cycle in a male. |
IEA |
BP |
GO:0007129 |
synapsis |
The meiotic cell cycle process where side by side pairing and physical juxtaposition of homologous chromosomes is created during meiotic prophase. Synapsis begins when the chromosome arms begin to pair from the clustered telomeres and ends when synaptonemal complex or linear element assembly is complete. |
IEA |
BP |
GO:0007283 |
spermatogenesis |
The process of formation of spermatozoa, including spermatocytogenesis and spermiogenesis. |
IEA |
BP |
GO:0008630 |
intrinsic apoptotic signaling pathway in response to DNA damage |
A series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced by the detection of DNA damage, and ends when the execution phase of apoptosis is triggered. |
IEA |
BP |
GO:0016321 |
female meiosis chromosome segregation |
The cell cycle process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets during the meiotic cell cycle in a female. |
IEA |
BP |
GO:0016446 |
somatic hypermutation of immunoglobulin genes |
Mutations occurring somatically that result in amino acid changes in the rearranged V regions of immunoglobulins. |
IBA |
BP |
GO:0043060 |
meiotic metaphase I plate congression |
The alignment of chromosomes at the metaphase plate, a plane halfway between the poles of the meiotic spindle, during meiosis I. |
IEA |
BP |
GO:0045141 |
meiotic telomere clustering |
The cell cycle process in which the dynamic reorganization of telomeres occurs in early meiotic prophase, during which meiotic chromosome ends are gathered in a bouquet arrangement at the inner surface of the nuclear envelope proximal to the spindle pole body. This plays an important role in progression through meiosis and precedes synapsis. |
IEA |
BP |
GO:0045190 |
isotype switching |
The switching of activated B cells from IgM biosynthesis to biosynthesis of other isotypes of immunoglobulin, accomplished through a recombination process involving an intrachromosomal deletion involving switch regions that reside 5' of each constant region gene segment in the immunoglobulin heavy chain locus. |
IEA |
BP |
GO:0045950 |
negative regulation of mitotic recombination |
Any process that inhibits or decreases the rate of DNA recombination during mitosis. |
IEA |
BP |
GO:0048477 |
oogenesis |
The complete process of formation and maturation of an ovum or female gamete from a primordial female germ cell. Examples of this process are found in Mus musculus and Drosophila melanogaster. |
IEA |
BP |
GO:0051257 |
meiotic spindle midzone assembly |
The formation of the spindle midzone, the area in the center of the spindle where the spindle microtubules from opposite poles overlap, as a part of the process of meiosis. |
IEA |
CC |
GO:0000795 |
synaptonemal complex |
A proteinaceous scaffold found between homologous chromosomes during meiosis. |
IBA |
CC |
GO:0001673 |
male germ cell nucleus |
The nucleus of a male germ cell, a reproductive cell in males. |
IEA |
CC |
GO:0005634 |
nucleus |
A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
IC |
CC |
GO:0005654 |
nucleoplasm |
That part of the nuclear content other than the chromosomes or the nucleolus. |
IDA|TAS |
CC |
GO:0005712 |
chiasma |
A connection formed between chromatids, visible during meiosis, thought to be the point of the interchange involved in crossing-over. |
IBA |
CC |
GO:0016020 |
membrane |
A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
IDA |
CC |
GO:0032389 |
MutLalpha complex |
A heterodimer involved in the recognition of base-base and small insertion/deletion mismatches. In human the complex consists of two subunits, MLH1 and PMS2. |
IBA |
MF |
GO:0003682 |
chromatin binding |
Interacting selectively and non-covalently with chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
IEA |
MF |
GO:0003697 |
single-stranded DNA binding |
Interacting selectively and non-covalently with single-stranded DNA. |
IDA |
MF |
GO:0005515 |
protein binding |
Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules). |
IPI |
MF |
GO:0005524 |
ATP binding |
Interacting selectively and non-covalently with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
IEA |
MF |
GO:0016887 |
ATPase activity |
Catalysis of the reaction: ATP + H2O = ADP + phosphate + 2 H+. May or may not be coupled to another reaction. |
IBA |
MF |
GO:0032137 |
guanine/thymine mispair binding |
Interacting selectively and non-covalently with double-stranded DNA containing a G/T mispair. |
IEA |
MF |
GO:0032407 |
MutSalpha complex binding |
Interacting selectively and non-covalently with the mismatch repair complex MutSalpha. |
IDA |
Domain ID | Description |
---|---|
IPR002099 |
DNA mismatch repair protein family |
IPR003594 |
Histidine kinase-like ATPase, C-terminal domain |
IPR013507 |
DNA mismatch repair protein, C-terminal |
IPR014721 |
Ribosomal protein S5 domain 2-type fold, subgroup |
IPR014762 |
DNA mismatch repair, conserved site |
IPR020568 |
Ribosomal protein S5 domain 2-type fold |
IPR032189 |
DNA mismatch repair protein Mlh1, C-terminal |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
hsa01524 |
Platinum drug resistance |
KEGG |
hsa03430 |
Mismatch repair |
KEGG |
hsa03460 |
Fanconi anemia pathway |
KEGG |
hsa05200 |
Pathways in cancer |
KEGG |
hsa05210 |
Colorectal cancer |
KEGG |
hsa05213 |
Endometrial cancer |
KEGG |
WP34 |
Ovarian Infertility Genes |
WikiPathways |
WP531 |
Mismatch repair |
WikiPathways |
UMLS CUI | UMLS Term |
---|---|
C0009404 |
Colorectal Neoplasms |
C0009405 |
Hereditary Nonpolyposis Colorectal Neoplasms |
C0024299 |
Lymphoma |
C0027627 |
Neoplasm Metastasis |
C0027672 |
Neoplastic Syndromes, Hereditary |
C0033578 |
Prostatic Neoplasms |
C0919267 |
Ovarian Neoplasm |
C1321489 |
Torre-Muir Syndrome |
C1333990 |
Hereditary Nonpolyposis Colorectal Cancer |
C1333991 |
Hereditary Non-Polyposis Colon Cancer Type 2 |
Tissue | Cell Type |
---|---|
adrenal gland |
glandular cells |
appendix |
glandular cells |
appendix |
lymphoid tissue |
bronchus |
respiratory epithelial cells |
cerebellum |
Purkinje cells |
cerebral cortex |
neuronal cells |
cervix, uterine |
glandular cells |
cervix, uterine |
squamous epithelial cells |
colon |
endothelial cells |
colon |
glandular cells |
duodenum |
glandular cells |
endometrium |
glandular cells |
epididymis |
glandular cells |
esophagus |
squamous epithelial cells |
fallopian tube |
glandular cells |
gallbladder |
glandular cells |
heart muscle |
myocytes |
hippocampus |
neuronal cells |
kidney |
cells in glomeruli |
kidney |
cells in tubules |
nasopharynx |
respiratory epithelial cells |
oral mucosa |
squamous epithelial cells |
pancreas |
exocrine glandular cells |
placenta |
decidual cells |
rectum |
glandular cells |
salivary gland |
glandular cells |
small intestine |
glandular cells |
smooth muscle |
smooth muscle cells |
spleen |
cells in red pulp |
spleen |
cells in white pulp |
stomach |
glandular cells |
testis |
cells in seminiferous ducts |
testis |
Leydig cells |
thyroid gland |
glandular cells |
tonsil |
germinal center cells |
tonsil |
non-germinal center cells |
tonsil |
squamous epithelial cells |
urinary bladder |
urothelial cells |
vagina |
squamous epithelial cells |
Pubmed ID | Author | Year | Title |
---|---|---|---|
22951915 |
Haozi et al. |
2012 |
Altered gene expression profile in cumulus cells of mature MII oocytes from patients with polycystic ovary syndrome |
23824412 |
Piltonen et al. |
2013 |
Mesenchymal Stem/Progenitors and Other Endometrial Cell Types From Women With Polycystic Ovary Syndrome (PCOS) Display Inflammatory and Oncogenic Potential |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
ALDOB |
229 |
P05062 |
0.49 |
SPTBN2 |
6712 |
O15020 |
0.49 |
XPA |
7507 |
P23025 |
0.49 |
ZNF224 |
7767 |
Q9NZL3 |
0.49 |
USP5 |
8078 |
P45974 |
0.49 |
API5 |
8539 |
Q9BZZ5 |
0.49 |
FRAT2 |
23401 |
O75474 |
0.49 |
TRMO |
51531 |
Q9BU70 |
0.49 |
STX17 |
55014 |
P56962 |
0.49 |
CCDC180 |
100499483 |
Q9P1Z9 |
0.49 |
ATM |
472 |
Q13315 |
0.55 |
RFC1 |
5981 |
P35251 |
0.55 |
ACO2 |
50 |
Q99798 |
0.63 |
ACTG2 |
72 |
P63267 |
0.63 |
AP2B1 |
163 |
P63010 |
0.63 |
ALDOA |
226 |
P04075 |
0.63 |
ANXA6 |
309 |
P08133 |
0.63 |
APRT |
353 |
P07741 |
0.63 |
ARAF |
369 |
P10398 |
0.63 |
TRIM23 |
373 |
P36406 |
0.63 |
ASS1 |
445 |
P00966 |
0.63 |
CAPN5 |
726 |
O15484 |
0.63 |
VPS51 |
738 |
Q9UID3 |
0.63 |
CKB |
1152 |
P12277 |
0.63 |
CLIC1 |
1192 |
O00299 |
0.63 |
COPA |
1314 |
P53621 |
0.63 |
ATF2 |
1386 |
P15336 |
0.63 |
EEF1G |
1937 |
P26641 |
0.63 |
EEF2 |
1938 |
P13639 |
0.63 |
FLNB |
2317 |
O75369 |
0.63 |
FLNC |
2318 |
Q14315 |
0.63 |
GSTP1 |
2950 |
P09211 |
0.63 |
HSD17B3 |
3293 |
P37058 |
0.63 |
IGKC |
3514 |
P01834 |
0.63 |
LGALS4 |
3960 |
P56470 |
0.63 |
MUC2 |
4583 |
Q02817 |
0.63 |
MYL6 |
4637 |
P60660 |
0.63 |
MYOG |
4656 |
P15173 |
0.63 |
NCF4 |
4689 |
Q15080 |
0.63 |
NDUFS8 |
4728 |
O00217 |
0.63 |
NONO |
4841 |
Q15233 |
0.63 |
SERPINF1 |
5176 |
P36955 |
0.63 |
MAP2K6 |
5608 |
P52564 |
0.63 |
PSMA1 |
5682 |
P25786 |
0.63 |
PTGDS |
5730 |
P41222 |
0.63 |
PTPRH |
5794 |
Q9HD43 |
0.63 |
RAD23B |
5887 |
P54727 |
0.63 |
RPS2 |
6187 |
P15880 |
0.63 |
RPS5 |
6193 |
P46782 |
0.63 |
RPS16 |
6217 |
P62249 |
0.63 |
RRBP1 |
6238 |
Q9P2E9 |
0.63 |
TAGLN |
6876 |
Q01995 |
0.63 |
ABHD16A |
7920 |
O95870 |
0.63 |
PTP4A2 |
8073 |
Q12974 |
0.63 |
PLPP2 |
8612 |
O43688 |
0.63 |
VAMP8 |
8673 |
Q9BV40 |
0.63 |
ABCC3 |
8714 |
O15438 |
0.63 |
FCGBP |
8857 |
Q9Y6R7 |
0.63 |
SQSTM1 |
8878 |
Q13501 |
0.63 |
SELENBP1 |
8991 |
Q13228 |
0.63 |
NDRG1 |
10397 |
Q92597 |
0.63 |
ZER1 |
10444 |
Q7Z7L7 |
0.63 |
AGR2 |
10551 |
O95994 |
0.63 |
CKAP4 |
10970 |
Q07065 |
0.63 |
EXOC3 |
11336 |
O60645 |
0.63 |
GABARAP |
11337 |
O95166 |
0.63 |
UBOX5 |
22888 |
O94941 |
0.63 |
TRIM29 |
23650 |
Q14134 |
0.63 |
TXN2 |
25828 |
Q99757 |
0.63 |
SEC61A1 |
29927 |
P61619 |
0.63 |
RAPGEFL1 |
51195 |
Q9UHV5 |
0.63 |
DDX47 |
51202 |
Q9H0S4 |
0.63 |
CUTA |
51596 |
O60888 |
0.63 |
IL20RA |
53832 |
Q9UHF4 |
0.63 |
NDFIP2 |
54602 |
Q9NV92 |
0.63 |
ELP6 |
54859 |
Q0PNE2 |
0.63 |
ACER3 |
55331 |
Q9NUN7 |
0.63 |
STAP2 |
55620 |
Q9UGK3 |
0.63 |
PARVA |
55742 |
Q9NVD7 |
0.63 |
FASTKD5 |
60493 |
Q7L8L6 |
0.63 |
ELMO2 |
63916 |
Q96JJ3 |
0.63 |
PARP12 |
64761 |
Q9H0J9 |
0.63 |
SLC25A23 |
79085 |
Q9BV35 |
0.63 |
CAB39L |
81617 |
Q9H9S4 |
0.63 |
EIF2A |
83939 |
Q9BY44 |
0.63 |
FBXO32 |
114907 |
Q969P5 |
0.63 |
NT5C3B |
115024 |
Q969T7 |
0.63 |
FRMD6 |
122786 |
Q96NE9 |
0.63 |
TPRG1L |
127262 |
Q5T0D9 |
0.63 |
PCNA |
5111 |
P12004 |
0.70 |
ATP5A1 |
498 |
P25705 |
0.72 |
CAPZA2 |
830 |
P47755 |
0.72 |
LYST |
1130 |
Q99698 |
0.72 |
CTTN |
2017 |
Q14247 |
0.72 |
HDLBP |
3069 |
Q00341 |
0.72 |
KPNB1 |
3837 |
Q14974 |
0.72 |
PIK3C2A |
5286 |
O00443 |
0.72 |
PPP2R1A |
5518 |
P30153 |
0.72 |
PPP2R2A |
5520 |
P63151 |
0.72 |
PPP2R2B |
5521 |
Q00005 |
0.72 |
PPP3CB |
5532 |
P16298 |
0.72 |
PPP3CC |
5533 |
P48454 |
0.72 |
PRKDC |
5591 |
P78527 |
0.72 |
PYGB |
5834 |
P11216 |
0.72 |
SLC25A1 |
6576 |
P53007 |
0.72 |
SMC1A |
8243 |
Q14683 |
0.72 |
RUVBL1 |
8607 |
Q9Y265 |
0.72 |
PSMD6 |
9861 |
Q15008 |
0.72 |
UBAP2L |
9898 |
Q14157 |
0.72 |
RUVBL2 |
10856 |
Q9Y230 |
0.72 |
PSD3 |
23362 |
Q9NYI0 |
0.72 |
FKBP8 |
23770 |
Q14318 |
0.72 |
XRN1 |
54464 |
Q8IZH2 |
0.72 |
INO80 |
54617 |
Q9ULG1 |
0.72 |
ATAD3A |
55210 |
Q9NVI7 |
0.72 |
PLXNA3 |
55558 |
P51805 |
0.72 |
PPP2R2D |
55844 |
Q66LE6 |
0.72 |
YLPM1 |
56252 |
P49750 |
0.72 |
WDR61 |
80349 |
Q9GZS3 |
0.72 |
ATAD3B |
83858 |
Q5T9A4 |
0.72 |
DOCK7 |
85440 |
Q96N67 |
0.72 |
NANP |
140838 |
Q8TBE9 |
0.72 |
AMOT |
154796 |
Q4VCS5 |
0.72 |
ZC3H11A |
9877 |
O75152 |
0.73 |
ANXA2 |
302 |
P07355 |
0.78 |
CTSB |
1508 |
P07858 |
0.78 |
DES |
1674 |
P17661 |
0.78 |
FAN1 |
22909 |
Q9Y2M0 |
0.83 |
KPNA2 |
3838 |
P52292 |
0.86 |
AIFM1 |
9131 |
O95831 |
0.86 |
BRCA1 |
672 |
P38398 |
0.88 |
SPTAN1 |
6709 |
Q13813 |
0.88 |
TMSB4X |
7114 |
P62328 |
0.88 |
BRIP1 |
83990 |
Q9BX63 |
0.90 |
MSH3 |
4437 |
P20585 |
0.93 |
BAAT |
570 |
Q14032 |
0.49 |
BARD1 |
580 |
Q99728 |
0.49 |
CTSV |
1515 |
O60911 |
0.49 |
CYLC2 |
1539 |
Q14093 |
0.49 |
SMAD1 |
4086 |
Q15797 |
0.49 |
TDRD7 |
23424 |
Q8NHU6 |
0.49 |
LEF1 |
51176 |
Q9UJU2 |
0.49 |
RAD9A |
5883 |
Q99638 |
0.52 |
MRE11A |
4361 |
P49959 |
0.55 |
NBN |
4683 |
O60934 |
0.55 |
RAD50 |
10111 |
Q92878 |
0.55 |
PPP2CB |
5516 |
P62714 |
0.56 |
BACH1 |
571 |
O14867 |
0.63 |
FANCD2 |
2177 |
Q9BXW9 |
0.63 |
HMGB1 |
3146 |
P09429 |
0.63 |
NTRK1 |
4914 |
P04629 |
0.63 |
TXN |
7295 |
P10599 |
0.63 |
SNW1 |
22938 |
Q13573 |
0.63 |
MMS19 |
64210 |
Q96T76 |
0.63 |
SPRTN |
83932 |
Q9H040 |
0.63 |
CASP3 |
836 |
P42574 |
0.65 |
ORC4 |
5000 |
O43929 |
0.65 |
CXorf57 |
55086 |
Q6NSI4 |
0.73 |
SPERT |
220082 |
Q8NA61 |
0.73 |
POLH |
5429 |
Q9Y253 |
0.75 |
FSCN1 |
6624 |
Q16658 |
0.76 |
ACTG1 |
71 |
P63261 |
0.78 |
MYC |
4609 |
P01106 |
0.79 |
MLH3 |
27030 |
Q9UHC1 |
0.82 |
MSH6 |
2956 |
P52701 |
0.87 |
MSH4 |
4438 |
O15457 |
0.88 |
MBD4 |
8930 |
O95243 |
0.88 |
MSH2 |
4436 |
P43246 |
0.89 |
BLM |
641 |
P54132 |
0.90 |
PMS1 |
5378 |
P54277 |
0.90 |
EXO1 |
9156 |
Q9UQ84 |
0.90 |
PMS2 |
5395 |
P54278 |
0.99 |