Mlh1 (mutL homolog 1) - Rat Genome Database

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Gene: Mlh1 (mutL homolog 1) Chinchilla lanigera
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Symbol: Mlh1
Name: mutL homolog 1
RGD ID: 8992209
Description: ENCODES a protein that exhibits chromatin binding (ortholog); enzyme binding (ortholog); guanine/thymine mispair binding (ortholog); INVOLVED IN DNA damage response (ortholog); DNA repair (ortholog); double-strand break repair via nonhomologous end joining (ortholog); PARTICIPATES IN altered mismatch repair pathway; colorectal cancer pathway; endometrial cancer pathway; ASSOCIATED WITH bile duct cancer (ortholog); breast cancer (ortholog); Breast Cancer, Familial (ortholog); FOUND IN chiasma (ortholog); chromosome (ortholog); condensed chromosome (ortholog)
Type: protein-coding
RefSeq Status: MODEL
Previously known as: DNA mismatch repair protein Mlh1; mutL homolog 1, colon cancer, nonpolyposis type 2
RGD Orthologs
Human
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: ChiLan1.0 - Chinchilla ChiLan1.0 Assembly
Position:
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554213,890,306 - 3,936,526 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554213,890,291 - 3,936,892 (+)NCBIChiLan1.0ChiLan1.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Transitive Annotation Pipeline Automated assignment of GO, PW and RDO ISO annotations across species
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
Additional References at PubMed
PMID:22301074   PMID:30032202  


Genomics

Comparative Map Data
Mlh1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554213,890,306 - 3,936,526 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554213,890,291 - 3,936,892 (+)NCBIChiLan1.0ChiLan1.0
MLH1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38336,993,466 - 37,050,846 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl336,993,226 - 37,050,896 (+)EnsemblGRCh38hg38GRCh38
GRCh37337,035,009 - 37,092,337 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36337,009,983 - 37,067,341 (+)NCBINCBI36Build 36hg18NCBI36
Build 34337,009,982 - 37,067,341NCBI
Celera336,977,606 - 37,035,102 (+)NCBICelera
Cytogenetic Map3p22.2NCBI
HuRef336,975,521 - 37,033,106 (+)NCBIHuRef
CHM1_1336,986,471 - 37,043,967 (+)NCBICHM1_1
T2T-CHM13v2.0336,994,839 - 37,052,189 (+)NCBIT2T-CHM13v2.0
Mlh1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm399111,057,296 - 111,100,854 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl9111,057,296 - 111,100,859 (-)EnsemblGRCm39 Ensembl
GRCm389111,228,228 - 111,271,786 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl9111,228,228 - 111,271,791 (-)EnsemblGRCm38mm10GRCm38
MGSCv379111,130,732 - 111,174,112 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv369111,073,071 - 111,116,378 (-)NCBIMGSCv36mm8
Celera9110,951,307 - 110,994,774 (-)NCBICelera
Cytogenetic Map9F3NCBI
cM Map960.92NCBI
Mlh1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr88120,074,871 - 120,112,109 (-)NCBIGRCr8
mRatBN7.28111,196,468 - 111,233,721 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl8111,196,468 - 111,233,617 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx8116,812,205 - 116,849,629 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.08115,011,436 - 115,048,860 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.08112,854,258 - 112,891,684 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.08119,486,655 - 119,523,716 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl8119,486,691 - 119,523,964 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.08118,828,172 - 118,865,320 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.48115,616,396 - 115,653,471 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.18115,635,850 - 115,672,920 (-)NCBI
Celera8110,478,307 - 110,515,168 (-)NCBICelera
Cytogenetic Map8q32NCBI
MLH1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2236,954,744 - 37,012,519 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1336,959,508 - 37,020,179 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0336,899,828 - 36,957,076 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1337,189,439 - 37,245,801 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl337,189,439 - 37,245,801 (+)Ensemblpanpan1.1panPan2
MLH1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1236,889,108 - 6,938,117 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl236,889,135 - 6,938,116 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha236,928,816 - 6,977,811 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0237,174,416 - 7,223,741 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl237,174,447 - 7,226,855 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1236,994,381 - 7,043,343 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0237,136,584 - 7,185,565 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0237,126,728 - 7,175,765 (+)NCBIUU_Cfam_GSD_1.0
Mlh1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118193,417,882 - 193,462,257 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647326,556,611 - 26,603,736 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647326,556,636 - 26,600,830 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MLH1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1321,791,203 - 21,877,757 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11321,791,276 - 21,877,789 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21323,613,450 - 23,692,364 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MLH1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1152,364,537 - 2,418,379 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl152,364,738 - 2,418,393 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606311,101,391 - 11,155,261 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mlh1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478815,110,658 - 15,160,535 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478815,110,436 - 15,160,462 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2


Expression

RNA-SEQ Expression


Sequence


Ensembl Acc Id: ENSCLAT00000006224   ⟹   ENSCLAP00000006121
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0 EnsemblNW_0049554213,890,306 - 3,936,526 (+)Ensembl
RefSeq Acc Id: XM_005383684   ⟹   XP_005383741
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0NW_0049554213,890,291 - 3,936,549 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005383685   ⟹   XP_005383742
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0NW_0049554213,890,308 - 3,936,892 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005383686   ⟹   XP_005383743
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0NW_0049554213,890,291 - 3,936,549 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005383688   ⟹   XP_005383745
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0NW_0049554213,892,105 - 3,936,892 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs XP_005383741 (Get FASTA)   NCBI Sequence Viewer  
  XP_005383742 (Get FASTA)   NCBI Sequence Viewer  
  XP_005383743 (Get FASTA)   NCBI Sequence Viewer  
  XP_005383745 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSCLAP00000006121
  ENSCLAP00000006121.1
RefSeq Acc Id: XP_005383741   ⟸   XM_005383684
- Peptide Label: isoform X1
- UniProtKB: A0A8C2V175 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005383743   ⟸   XM_005383686
- Peptide Label: isoform X3
- UniProtKB: A0A8C2V175 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005383742   ⟸   XM_005383685
- Peptide Label: isoform X2
- UniProtKB: A0A8C2V175 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005383745   ⟸   XM_005383688
- Peptide Label: isoform X4
- Sequence:
Ensembl Acc Id: ENSCLAP00000006121   ⟸   ENSCLAT00000006224

Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSCLAG00000004334 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSCLAT00000006224 ENTREZGENE
  ENSCLAT00000006224.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.230.10 UniProtKB/TrEMBL
  3.30.565.10 UniProtKB/TrEMBL
InterPro DNA_mismatch_repair_CS UniProtKB/TrEMBL
  DNA_mismatch_repair_N UniProtKB/TrEMBL
  DNA_mismatch_S5_2-like UniProtKB/TrEMBL
  HATPase_C_sf UniProtKB/TrEMBL
  Mlh1_C UniProtKB/TrEMBL
  MutL/Mlh/Pms UniProtKB/TrEMBL
  Ribosomal_S5_D2-typ_fold UniProtKB/TrEMBL
  Ribosomal_S5_D2-typ_fold_subgr UniProtKB/TrEMBL
NCBI Gene Mlh1 ENTREZGENE
PANTHER DNA MISMATCH REPAIR PROTEIN MLH1 UniProtKB/TrEMBL
  PTHR10073 UniProtKB/TrEMBL
Pfam DNA_mis_repair UniProtKB/TrEMBL
  HATPase_c_3 UniProtKB/TrEMBL
  Mlh1_C UniProtKB/TrEMBL
PROSITE DNA_MISMATCH_REPAIR_1 UniProtKB/TrEMBL
SMART DNA_mis_repair UniProtKB/TrEMBL
Superfamily-SCOP SSF54211 UniProtKB/TrEMBL
  SSF55874 UniProtKB/TrEMBL
UniProt A0A8C2V175 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-08-25 Mlh1  mutL homolog 1    mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)  Symbol and/or name change 5135510 APPROVED