mlh1 mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: mlh1provided by ZNC
Official Full Name: mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)provided by ZNC
Primary source: ZFIN:ZDB-GENE-040426-1600
See related: Ensembl:ENSDARG00000025948 AllianceGenome:ZFIN:ZDB-GENE-040426-1600
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: zgc:66301
Summary: Predicted to enable ATP hydrolysis activity. Acts upstream of or within meiosis I and spermatogenesis. Predicted to be located in nucleus. Predicted to be part of MutLalpha complex. Is expressed in head and testis. 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, Dec 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 13

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	13	NC_007124.7 (42602402..42617640)
105	previous assembly	GRCz10 (GCF_000002035.5)	13	NC_007124.6 (42476328..42491584)

Chromosome 13 - NC_007124.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification and characterization of novel knockout mutants of the three major MMR genes, mlh1, msh2, and msh6, in zebrafish that develop tumors at low frequencies.
Title: Zebrafish with mutations in mismatch repair genes develop neurofibromas and other tumors.
In zebrafish mlh1 mutant (knock-out) males, a delay of both meiotic divisions occurs rather than complete arrest during meiosis I. Eggs fertilized with mutant sperm develop as malformed embryos and are aneuploid.
Title: Completion of meiosis in male zebrafish (Danio rerio) despite lack of DNA mismatch repair gene mlh1.
Male mlh1 mutants are sterile and display an arrest in spermatogenesis at metaphase I, resulting in increased testis weight due to accumulation of prophase I spermatocytes.
Title: Mlh1 deficiency in zebrafish results in male sterility and aneuploid as well as triploid progeny in females.

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by ZFIN

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 mismatched DNA binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA damage response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within DNA repair	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within chiasma assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within chromosome segregation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within male meiosis I	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within meiotic metaphase I homologous chromosome alignment	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mismatch repair	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within mismatch repair	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of MutLalpha complex	IBA Inferred from Biological aspect of Ancestor more info
part_of mismatch repair complex	IEA Inferred from Electronic Annotation more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: DNA mismatch repair protein Mlh1

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_001431064.1 → NP_001417993.1 DNA mismatch repair protein Mlh1

Status: VALIDATED

Source sequence(s)

BX936318

UniProtKB/TrEMBL

Q6PFL1
NM_200659.2 → NP_956953.2 DNA mismatch repair protein Mlh1

Status: VALIDATED

Source sequence(s)

BX936318

UniProtKB/TrEMBL

Q6PFL1

Related

ENSDARP00000113460.1, ENSDART00000133388.3