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

Gene name
MLH1, COCA2, FCC2, HNPCC, HNPCC2, MMRCS1, hMLH1
Definition
(RefSeq) mutL homolog 1
  KO
K08734  DNA mismatch repair protein MLH1
Organism
hsa  Homo sapiens (human)
Pathway
hsa01524  Platinum drug resistance
hsa03430  Mismatch repair
hsa03460  Fanconi anemia pathway
hsa05200  Pathways in cancer
hsa05210  Colorectal cancer
hsa05213  Endometrial cancer
hsa05226  Gastric cancer
Disease
H00018  Gastric cancer
H00020  Colorectal cancer
H00026  Endometrial cancer
H00027  Ovarian cancer
H00876  Mismatch repair deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09124 Replication and repair
   03430 Mismatch repair
    4292 (MLH1)
   03460 Fanconi anemia pathway
    4292 (MLH1)
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    4292 (MLH1)
  09162 Cancer: specific types
   05210 Colorectal cancer
    4292 (MLH1)
   05226 Gastric cancer
    4292 (MLH1)
   05213 Endometrial cancer
    4292 (MLH1)
  09176 Drug resistance: antineoplastic
   01524 Platinum drug resistance
    4292 (MLH1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03400 DNA repair and recombination proteins [BR:hsa03400]
    4292 (MLH1)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic type
  SSBR (single strand breaks repair)
   MMR (mismatch excision repair)
    MutL homologs
     4292 (MLH1)
SSDB
Motif
Pfam: Mlh1_C DNA_mis_repair HATPase_c_3 HATPase_c
Other DBs
NCBI-GeneID: 4292
NCBI-ProteinID: NP_000240
OMIM: 120436
HGNC: 7127
Ensembl: ENSG00000076242
Vega: OTTHUMG00000130797
Pharos: P40692(Tbio)
UniProt: P40692
Structure
PDB: 
3RBN 4P7A

Position
3p22.2
AA seq 756 aa
MSFVAGVIRRLDETVVNRIAAGEVIQRPANAIKEMIENCLDAKSTSIQVIVKEGGLKLIQ
IQDNGTGIRKEDLDIVCERFTTSKLQSFEDLASISTYGFRGEALASISHVAHVTITTKTA
DGKCAYRASYSDGKLKAPPKPCAGNQGTQITVEDLFYNIATRRKALKNPSEEYGKILEVV
GRYSVHNAGISFSVKKQGETVADVRTLPNASTVDNIRSIFGNAVSRELIEIGCEDKTLAF
KMNGYISNANYSVKKCIFLLFINHRLVESTSLRKAIETVYAAYLPKNTHPFLYLSLEISP
QNVDVNVHPTKHEVHFLHEESILERVQQHIESKLLGSNSSRMYFTQTLLPGLAGPSGEMV
KSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQPLSKPLSSQPQAIVTEDKTDIS
SGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNPRKRHREDSDVE
MVEDDSRKEMTAACTPRRRIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWAL
AQHQTKLYLLNTTKLSEELFYQILIYDFANFGVLRLSEPAPLFDLAMLALDSPESGWTEE
DGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPLLIDNYVPPLEGLPIFILRL
ATEVNWDEEKECFESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIV
YKALRSHILPPKHFTEDGNILQLANLPDLYKVFERC
NT seq 2271 nt   +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

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (7)   
   KEGG PATHWAY (7)   
Disease (9)   
   KEGG DISEASE (5)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (26)   
   KEGG ORTHOLOGY (1)   
   RefGene (13)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (5)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (27)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (25)   
DNA sequence (103)   
   RefSeq(nuc) (25)   
   GenBank (39)   
   EMBL (39)   
Protein domain (4)   
   Pfam (4)   
All databases (179)   

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