Mlh1 mutL homolog 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Mlh1provided by RGD
Official Full Name: mutL homolog 1provided by RGD
Primary source: RGD:620937
See related: EnsemblRapid:ENSRNOG00000033809 AllianceGenome:RGD:620937
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Predicted to enable several functions, including ATP hydrolysis activity; chromatin binding activity; and guanine/thymine mispair binding activity. Predicted to contribute to MutSalpha complex binding activity and single-stranded DNA binding activity. Involved in several processes, including response to hypoxia; response to toxic substance; and spermatogenesis. Located in synaptonemal complex. Used to study lung carcinoma. Human ortholog(s) of this gene implicated in Lynch syndrome (multiple); gastrointestinal system cancer (multiple); lung cancer; mismatch repair cancer syndrome; and sporadic breast cancer. Orthologous to human MLH1 (mutL homolog 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in Heart (RPKM 108.9), Thymus (RPKM 75.0) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 8q32

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	8	NC_086026.1 (120074871..120112109, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	8	NC_051343.1 (111196468..111233721, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	8	NC_005107.4 (119486655..119523716, complement)

Chromosome 8 - NC_086026.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Epigenetics and Mitochondrial Stability in the Metabolic Memory Phenomenon Associated with Continued Progression of Diabetic Retinopathy.
Title: Epigenetics and Mitochondrial Stability in the Metabolic Memory Phenomenon Associated with Continued Progression of Diabetic Retinopathy.

Submit: New GeneRIF Correction

General gene information

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Markers

BE105251 (e-PCR)
- UniSTS:245790

RH138740 (e-PCR)
- UniSTS:220827

BI300989 (e-PCR)
- UniSTS:246441

AI561766 (e-PCR)
- UniSTS:185785

RH136168 (e-PCR)
- UniSTS:210163

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent DNA damage sensor activity	IEA Inferred from Electronic Annotation more info
enables MutSalpha complex binding	IEA Inferred from Electronic Annotation more info
contributes_to MutSalpha complex binding	ISO Inferred from Sequence Orthology more info
enables chromatin binding	IEA Inferred from Electronic Annotation more info
enables chromatin binding	ISO Inferred from Sequence Orthology more info
enables enzyme binding	IEA Inferred from Electronic Annotation more info
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables guanine/thymine mispair binding	IEA Inferred from Electronic Annotation more info
enables guanine/thymine mispair binding	ISO Inferred from Sequence Orthology more info
enables mismatched DNA binding	IEA Inferred from Electronic Annotation more info
enables single-stranded DNA binding	IEA Inferred from Electronic Annotation more info
contributes_to single-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA damage response	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within DNA repair	ISO Inferred from Sequence Orthology more info
involved_in cellular response to organic cyclic compound	IEP Inferred from Expression Pattern more info	PubMed
involved_in double-strand break repair via nonhomologous end joining	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within double-strand break repair via nonhomologous end joining	ISO Inferred from Sequence Orthology more info
involved_in female meiosis chromosome segregation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within female meiosis chromosome segregation	ISO Inferred from Sequence Orthology more info
involved_in homologous chromosome pairing at meiosis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within homologous chromosome pairing at meiosis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within homologous chromosome segregation	ISO Inferred from Sequence Orthology more info
involved_in intrinsic apoptotic signaling pathway in response to DNA damage	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to DNA damage	ISO Inferred from Sequence Orthology more info
involved_in isotype switching	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within isotype switching	ISO Inferred from Sequence Orthology more info
involved_in male meiosis chromosome segregation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within male meiosis chromosome segregation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within male meiotic nuclear division	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within meiotic cell cycle	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within meiotic chromosome segregation	ISO Inferred from Sequence Orthology more info
involved_in meiotic metaphase I homologous chromosome alignment	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within meiotic metaphase I homologous chromosome alignment	ISO Inferred from Sequence Orthology more info
involved_in meiotic spindle midzone assembly	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within meiotic spindle midzone assembly	ISO Inferred from Sequence Orthology more info
involved_in meiotic telomere clustering	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within meiotic telomere clustering	ISO Inferred from Sequence Orthology more info
involved_in mismatch repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in mismatch repair	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within mismatch repair	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of mitotic recombination	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of mitotic recombination	ISO Inferred from Sequence Orthology more info
involved_in nuclear-transcribed mRNA poly(A) tail shortening	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within nuclear-transcribed mRNA poly(A) tail shortening	ISO Inferred from Sequence Orthology more info
involved_in oogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within oogenesis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of isotype switching to IgA isotypes	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of isotype switching to IgA isotypes	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of isotype switching to IgG isotypes	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of isotype switching to IgG isotypes	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within reciprocal meiotic recombination	ISO Inferred from Sequence Orthology more info
involved_in resolution of meiotic recombination intermediates	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within resolution of meiotic recombination intermediates	ISO Inferred from Sequence Orthology more info
involved_in response to bacterium	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within response to bacterium	ISO Inferred from Sequence Orthology more info
involved_in response to hypoxia	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to toxic substance	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to xenobiotic stimulus	IEP Inferred from Expression Pattern more info	PubMed
involved_in somatic hypermutation of immunoglobulin genes	IBA Inferred from Biological aspect of Ancestor more info
involved_in somatic hypermutation of immunoglobulin genes	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within somatic hypermutation of immunoglobulin genes	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within somatic recombination of immunoglobulin gene segments	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within somatic recombination of immunoglobulin genes involved in immune response	ISO Inferred from Sequence Orthology more info
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within spermatogenesis	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of MutLalpha complex	IBA Inferred from Biological aspect of Ancestor more info
part_of MutLalpha complex	IEA Inferred from Electronic Annotation more info
part_of MutLalpha complex	ISO Inferred from Sequence Orthology more info
located_in chiasma	IEA Inferred from Electronic Annotation more info
located_in chiasma	ISO Inferred from Sequence Orthology more info
located_in chromosome	ISO Inferred from Sequence Orthology more info
located_in condensed chromosome	ISO Inferred from Sequence Orthology more info
located_in condensed nuclear chromosome	ISO Inferred from Sequence Orthology more info
located_in late recombination nodule	IEA Inferred from Electronic Annotation more info
located_in late recombination nodule	ISO Inferred from Sequence Orthology more info
located_in male germ cell nucleus	IEA Inferred from Electronic Annotation more info
located_in male germ cell nucleus	ISO Inferred from Sequence Orthology more info
part_of mismatch repair complex	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in synaptonemal complex	IDA Inferred from Direct Assay more info	PubMed
located_in synaptonemal complex	IEA Inferred from Electronic Annotation more info
located_in synaptonemal complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: DNA mismatch repair protein Mlh1

Names: mismatch repair protein 1; mutL homolog 1, colon cancer, nonpolyposis type 2; mutL protein homolog 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_031053.2 → NP_112315.2 DNA mismatch repair protein Mlh1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000008

UniProtKB/TrEMBL

A0A0G2K2L0, A6I3J1

Related

ENSRNOP00000072285.1, ENSRNOT00000081718.3

Conserved Domains (2) summary

TIGR00585
Location:6 → 315

mutl; DNA mismatch repair protein MutL

pfam16413
Location:504 → 758

Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCr8

Genomic

NC_086026.1 Reference GRCr8

Range

120074871..120112109 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_039082199.2 → XP_038938127.1 DNA mismatch repair protein Mlh1 isoform X2

UniProtKB/TrEMBL

A0A8I6A8H0

Conserved Domains (3) summary

PRK00095
Location:6 → 312

mutL; DNA mismatch repair endonuclease MutL

cd03483
Location:90 → 214

MutL_Trans_MLH1; transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH1 (MutL homologue 1). This transducer domain is homologous to the second domain of the DNA gyrase B subunit, which is known to be important in ...

pfam16413
Location:383 → 637

Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
XM_063266207.1 → XP_063122277.1 DNA mismatch repair protein Mlh1 isoform X1

UniProtKB/TrEMBL

F1LSD8

Related

ENSRNOP00000102575.1, ENSRNOT00000135572.1