KEGG   Homo sapiens (human): 27030Help
Entry
27030             CDS       T01001                                 

Gene name
MLH3, HNPCC7
Definition
(RefSeq) mutL homolog 3
  KO
K08739  DNA mismatch repair protein MLH3
Organism
hsa  Homo sapiens (human)
Pathway
hsa03430  Mismatch repair
Disease
H00876  Mismatch repair deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09124 Replication and repair
   03430 Mismatch repair
    27030 (MLH3)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03400 DNA repair and recombination proteins [BR:hsa03400]
    27030 (MLH3)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic Type
  SSBR (single strand breaks repair)
   MMR (mismatch excision repair)
    MutL homologs
     27030 (MLH3)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: MutL_C DNA_mis_repair HATPase_c_3 HATPase_c
Motif
Other DBs
NCBI-GeneID: 27030
NCBI-ProteinID: NP_001035197
OMIM: 604395
HGNC: 7128
Ensembl: ENSG00000119684
Vega: OTTHUMG00000171766
Pharos: Q9UHC1(Tbio)
UniProt: Q9UHC1
Position
14q24.3
AA seq 1453 aa AA seqDB search
MIKCLSVEVQAKLRSGLAISSLGQCVEELALNSIDAEAKCVAVRVNMETFQVQVIDNGFG
MGSDDVEKVGNRYFTSKCHSVQDLENPRFYGFRGEALANIADMASAVEISSKKNRTMKTF
VKLFQSGKALKACEADVTRASAGTTVTVYNLFYQLPVRRKCMDPRLEFEKVRQRIEALSL
MHPSISFSLRNDVSGSMVLQLPKTKDVCSRFCQIYGLGKSQKLREISFKYKEFELSGYIS
SEAHYNKNMQFLFVNKRLVLRTKLHKLIDFLLRKESIICKPKNGPTSRQMNSSLRHRSTP
ELYGIYVINVQCQFCEYDVCMEPAKTLIEFQNWDTLLFCIQEGVKMFLKQEKLFVELSGE
DIKEFSEDNGFSLFDATLQKRVTSDERSNFQEACNNILDSYEMFNLQSKAVKRKTTAENV
NTQSSRDSEATRKNTNDAFLYIYESGGPGHSKMTEPSLQNKDSSCSESKMLEQETIVASE
AGENEKHKKSFLEHSSLENPCGTSLEMFLSPFQTPCHFEESGQDLEIWKESTTVNGMAAN
ILKNNRIQNQPKRFKDATEVGCQPLPFATTLWGVHSAQTEKEKKKESSNCGRRNVFSYGR
VKLCSTGFITHVVQNEKTKSTETEHSFKNYVRPGPTRAQETFGNRTRHSVETPDIKDLAS
TLSKESGQLPNKKNCRTNISYGLENEPTATYTMFSAFQEGSKKSQTDCILSDTSPSFPWY
RHVSNDSRKTDKLIGFSKPIVRKKLSLSSQLGSLEKFKRQYGKVENPLDTEVEESNGVTT
NLSLQVEPDILLKDKNRLENSDVCKITTMEHSDSDSSCQPASHILNSEKFPFSKDEDCLE
QQMPSLRESPMTLKELSLFNRKPLDLEKSSESLASKLSRLKGSERETQTMGMMSRFNELP
NSDSSRKDSKLCSVLTQDFCMLFNNKHEKTENGVIPTSDSATQDNSFNKNSKTHSNSNTT
ENCVISETPLVLPYNNSKVTGKDSDVLIRASEQQIGSLDSPSGMLMNPVEDATGDQNGIC
FQSEESKARACSETEESNTCCSDWQRHFDVALGRMVYVNKMTGLSTFIAPTEDIQAACTK
DLTTVAVDVVLENGSQYRCQPFRSDLVLPFLPRARAERTVMRQDNRDTVDDTVSSESLQS
LFSEWDNPVFARYPEVAVDVSSGQAESLAVKIHNILYPYRFTKGMIHSMQVLQQVDNKFI
ACLMSTKTEENGEAGGNLLVLVDQHAAHERIRLEQLIIDSYEKQQAQGSGRKKLLSSTLI
PPLEITVTEEQRRLLWCYHKNLEDLGLEFVFPDTSDSLVLVGKVPLCFVEREANELRRGR
STVTKSIVEEFIREQLELLQTTGGIQGTLPLTVQKVLASQACHGAIKFNDGLSLQESCRL
IEALSSCQLPFQCAHGRPSMLPLADIDHLEQEKQIKPNLTKLRKMAQAWRLFGKAECDTR
QSLQQSMPPCEPP
NT seq 4362 nt NT seq  +upstreamnt  +downstreamnt
atgatcaagtgcttgtcagttgaagtacaagccaaattgcgttctggtttggccataagc
tccttgggccaatgtgttgaggaacttgccctcaacagtattgatgctgaagcaaaatgt
gtggctgtcagggtgaatatggaaaccttccaagttcaagtgatagacaatggatttggg
atggggagtgatgatgtagagaaagtgggaaatcgttatttcaccagtaaatgccactcg
gtacaggacttggagaatccaaggttttatggtttccgaggagaggccttggcaaatatt
gctgacatggccagtgctgtggaaatttcgtccaagaaaaacaggacaatgaaaactttt
gtgaaactgtttcagagtggaaaagccctgaaagcttgtgaagctgatgtgactagagca
agcgctgggactactgtaacagtgtataacctattttaccagcttcctgtaaggaggaaa
tgcatggaccctagactggagtttgagaaggttaggcagagaatagaagctctctcactc
atgcacccttccatttctttctctttgagaaatgatgtttctggttccatggttcttcag
ctccctaaaaccaaagacgtatgttcccgattttgtcaaatttatggattgggaaagtcc
caaaagctaagagaaataagttttaaatataaagagtttgagcttagtggctatatcagc
tctgaagcacattacaacaagaatatgcagtttttgtttgtgaacaaaagactagtttta
aggacaaagctacataaactcattgactttttattaaggaaagaaagtattatatgcaag
ccaaagaatggtcccaccagtaggcaaatgaattcaagtcttcggcaccggtctacccca
gaactctatggcatatatgtaattaatgtgcagtgccaattctgtgagtatgatgtgtgc
atggagccagccaaaactctgattgaatttcagaactgggacactctcttgttttgcatt
caggaaggagtgaaaatgtttttaaagcaagaaaaattatttgtggaattatcaggtgag
gatattaaggaatttagtgaagataatggttttagtttatttgatgctactcttcagaag
cgtgtgacttccgatgagaggagcaatttccaggaagcatgtaataatattttagattcc
tatgagatgtttaatttgcagtcaaaagctgtgaaaagaaaaactactgcagaaaacgta
aacacacagagttctagggattcagaagctaccagaaaaaatacaaatgatgcatttttg
tacatttatgaatcaggtggtccaggccatagcaaaatgacagagccatctttacaaaac
aaagacagctcttgctcagaatcaaagatgttagaacaagagacaattgtagcatcagaa
gctggagaaaatgagaaacataaaaaatctttcctggaacatagctctttagaaaatccg
tgtggaaccagtttagaaatgtttttaagcccttttcagacaccatgtcactttgaggag
agtgggcaggatctagaaatatggaaagaaagtactactgttaatggcatggctgccaac
atcttgaaaaataatagaattcagaatcaaccaaagagatttaaagatgctactgaagtg
ggatgccagcctctgccttttgcaacaacattatggggagtacatagtgctcagacagag
aaagagaaaaaaaaagaatctagcaattgtggaagaagaaatgtttttagttatgggcga
gttaaattatgttccactggctttataactcatgtagtacaaaatgaaaaaactaaatca
actgaaacagaacattcatttaaaaattatgttagacctggtcccacacgtgcccaagaa
acatttggaaatagaacacgtcattcagttgaaactccagacatcaaagatttagccagc
actttaagtaaagaatctggtcaattgcccaacaaaaaaaattgcagaacgaatataagt
tatgggctagagaatgaacctacagcaacttatacaatgttttctgcttttcaggaaggt
agcaaaaaatcacaaacagattgcatattatctgatacatccccctctttcccctggtat
agacacgtttccaatgatagtaggaaaacagataaattaattggtttctccaaaccaatc
gtccgtaagaagctaagcttgagttcacagctaggatctttagagaagtttaagaggcaa
tatgggaaggttgaaaatcctctggatacagaagtagaggaaagtaatggagtcactacc
aatctcagtcttcaagttgaacctgacattctgctgaaggacaagaaccgcttagagaac
tctgatgtttgtaaaatcactactatggagcatagtgattcagatagtagttgtcaacca
gcaagccacatccttaactcagagaagtttccattctccaaggatgaagattgtttagaa
caacagatgcctagtttgagagaaagtcctatgaccctgaaggagttatctctctttaat
agaaaacctttggaccttgagaagtcatctgaatcactagcctctaaattatccagactg
aagggttccgaaagagaaactcaaacaatggggatgatgagtcgttttaatgaacttcca
aattcagattccagtaggaaagacagcaagttgtgcagtgtgttaacacaagatttttgt
atgttatttaacaacaagcatgaaaaaacagagaatggtgtcatcccaacatcagattct
gccacacaggataattcctttaataaaaatagtaaaacacattctaacagcaatacaaca
gagaactgtgtgatatcagaaactcctttggtattgccctataataattctaaagttacc
ggtaaagattcagatgttcttatcagagcctcagaacaacagataggaagtcttgactct
cccagtggaatgttaatgaatccggtagaagatgccacaggtgaccaaaatggaatttgt
tttcagagtgaggaatctaaagcaagagcttgttctgaaactgaagagtcaaacacgtgt
tgttcagattggcagcggcatttcgatgtagccctgggaagaatggtttatgtcaacaaa
atgactggactcagcacattcattgccccaactgaggacattcaggctgcttgtactaaa
gacctgacaactgtggctgtggatgttgtacttgagaatgggtctcagtacaggtgtcaa
ccttttagaagcgaccttgttcttcctttccttccgagagctcgagcagagaggactgtg
atgagacaggataacagagatactgtggatgatactgttagtagcgaatcgcttcagtct
ttgttctcagaatgggacaatccagtatttgcccgttatccagaggttgctgttgatgta
agcagtggccaggctgagagcttagcagttaaaattcacaacatcttgtatccctatcgt
ttcaccaaaggaatgattcattcaatgcaggttctccagcaagtagataacaagtttatt
gcctgtttgatgagcactaagactgaagagaatggcgaggcaggtgggaacctgctcgtg
ctggtggatcagcacgctgcccatgagcgtatacgtctggagcagcttatcattgattcc
tacgagaagcaacaggcacaaggctctggtcggaaaaaattactgtcttctactctaatt
cctccgctagagataacagtgacagaggaacaaaggagactcttatggtgttaccacaaa
aatctggaagatctgggccttgaatttgtatttccagacactagtgattctctggtcctt
gtgggaaaagtaccactatgttttgtggaaagagaagccaatgaacttcggagaggaaga
tctactgtgaccaagagtattgtggaggaatttatccgagaacaactggagctactccag
accaccggaggcatccaagggacattgccactgactgtccagaaggtgttggcatcccaa
gcctgccatggggccattaagtttaatgatggcctgagcttacaggaaagttgccgcctt
attgaagctctgtcctcatgccagctgccattccagtgtgctcacgggagaccttctatg
ctgccgttagctgacatagaccacttggaacaggaaaaacagattaaacccaacctcact
aaacttcgcaaaatggcccaggcctggcgtctctttggaaaagcagagtgtgatacaagg
cagagcctgcagcaatccatgcctccctgtgagccaccatga

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