KEGG   Homo sapiens (human): 4292Help
Entry
4292              CDS       T01001                                 

Gene name
MLH1, COCA2, FCC2, HNPCC, HNPCC2, hMLH1
Definition
mutL homolog 1
Orthology
K08734  
DNA mismatch repair protein MLH1
Organism
hsa  Homo sapiens (human)
Pathway
Mismatch repair
Fanconi anemia pathway
Pathways in cancer
Colorectal cancer
Endometrial cancer
Module
BRCA1-associated genome surveillance complex (BASC)
Disease
H00020  
Colorectal cancer
H00026  
Endometrial Cancer
H00027  
Ovarian cancer
H00876  
Mismatch repair deficiency
Class
Genetic Information Processing; Replication and repair; Mismatch repair [PATH:hsa03430]
Genetic Information Processing; Replication and repair; Fanconi anemia pathway [PATH:hsa03460]
Human Diseases; Cancers; Pathways in cancer [PATH:hsa05200]
Human Diseases; Cancers; Colorectal cancer [PATH:hsa05210]
Human Diseases; Cancers; Endometrial cancer [PATH:hsa05213]
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

Jmol
Position
3p21.3
AA seq 756 aa AA seqDB search
MSFVAGVIRRLDETVVNRIAAGEVIQRPANAIKEMIENCLDAKSTSIQVIVKEGGLKLIQ
IQDNGTGIRKEDLDIVCERFTTSKLQSFEDLASISTYGFRGEALASISHVAHVTITTKTA
DGKCAYRASYSDGKLKAPPKPCAGNQGTQITVEDLFYNIATRRKALKNPSEEYGKILEVV
GRYSVHNAGISFSVKKQGETVADVRTLPNASTVDNIRSIFGNAVSRELIEIGCEDKTLAF
KMNGYISNANYSVKKCIFLLFINHRLVESTSLRKAIETVYAAYLPKNTHPFLYLSLEISP
QNVDVNVHPTKHEVHFLHEESILERVQQHIESKLLGSNSSRMYFTQTLLPGLAGPSGEMV
KSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQPLSKPLSSQPQAIVTEDKTDIS
SGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNPRKRHREDSDVE
MVEDDSRKEMTAACTPRRRIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWAL
AQHQTKLYLLNTTKLSEELFYQILIYDFANFGVLRLSEPAPLFDLAMLALDSPESGWTEE
DGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPLLIDNYVPPLEGLPIFILRL
ATEVNWDEEKECFESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIV
YKALRSHILPPKHFTEDGNILQLANLPDLYKVFERC
NT seq 2271 nt NT seq  +upstreamnt  +downstreamnt
atgtcgttcgtggcaggggttattcggcggctggacgagacagtggtgaaccgcatcgcg
gcgggggaagttatccagcggccagctaatgctatcaaagagatgattgagaactgttta
gatgcaaaatccacaagtattcaagtgattgttaaagagggaggcctgaagttgattcag
atccaagacaatggcaccgggatcaggaaagaagatctggatattgtatgtgaaaggttc
actactagtaaactgcagtcctttgaggatttagccagtatttctacctatggctttcga
ggtgaggctttggccagcataagccatgtggctcatgttactattacaacgaaaacagct
gatggaaagtgtgcatacagagcaagttactcagatggaaaactgaaagcccctcctaaa
ccatgtgctggcaatcaagggacccagatcacggtggaggaccttttttacaacatagcc
acgaggagaaaagctttaaaaaatccaagtgaagaatatgggaaaattttggaagttgtt
ggcaggtattcagtacacaatgcaggcattagtttctcagttaaaaaacaaggagagaca
gtagctgatgttaggacactacccaatgcctcaaccgtggacaatattcgctccatcttt
ggaaatgctgttagtcgagaactgatagaaattggatgtgaggataaaaccctagccttc
aaaatgaatggttacatatccaatgcaaactactcagtgaagaagtgcatcttcttactc
ttcatcaaccatcgtctggtagaatcaacttccttgagaaaagccatagaaacagtgtat
gcagcctatttgcccaaaaacacacacccattcctgtacctcagtttagaaatcagtccc
cagaatgtggatgttaatgtgcaccccacaaagcatgaagttcacttcctgcacgaggag
agcatcctggagcgggtgcagcagcacatcgagagcaagctcctgggctccaattcctcc
aggatgtacttcacccagactttgctaccaggacttgctggcccctctggggagatggtt
aaatccacaacaagtctgacctcgtcttctacttctggaagtagtgataaggtctatgcc
caccagatggttcgtacagattcccgggaacagaagcttgatgcatttctgcagcctctg
agcaaacccctgtccagtcagccccaggccattgtcacagaggataagacagatatttct
agtggcagggctaggcagcaagatgaggagatgcttgaactcccagcccctgctgaagtg
gctgccaaaaatcagagcttggagggggatacaacaaaggggacttcagaaatgtcagag
aagagaggacctacttccagcaaccccagaaagagacatcgggaagattctgatgtggaa
atggtggaagatgattcccgaaaggaaatgactgcagcttgtaccccccggagaaggatc
attaacctcactagtgttttgagtctccaggaagaaattaatgagcagggacatgaggtt
ctccgggagatgttgcataaccactccttcgtgggctgtgtgaatcctcagtgggccttg
gcacagcatcaaaccaagttataccttctcaacaccaccaagcttagtgaagaactgttc
taccagatactcatttatgattttgccaattttggtgttctcaggttatcggagccagca
ccgctctttgaccttgccatgcttgccttagatagtccagagagtggctggacagaggaa
gatggtcccaaagaaggacttgctgaatacattgttgagtttctgaagaagaaggctgag
atgcttgcagactatttctctttggaaattgatgaggaagggaacctgattggattaccc
cttctgattgacaactatgtgccccctttggagggactgcctatcttcattcttcgacta
gccactgaggtgaattgggacgaagaaaaggaatgttttgaaagcctcagtaaagaatgc
gctatgttctattccatccggaagcagtacatatctgaggagtcgaccctctcaggccag
cagagtgaagtgcctggctccattccaaactcctggaagtggactgtggaacacattgtc
tataaagccttgcgctcacacattctgcctcctaaacatttcacagaagatggaaatatc
ctgcagcttgctaacctgcctgatctatacaaagtctttgagaggtgttaa

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