MLH1 mutL homolog 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MLH1provided by HGNC
Official Full Name: mutL homolog 1provided by HGNC
Primary source: HGNC:HGNC:7127
See related: Ensembl:ENSG00000076242 MIM:120436; AllianceGenome:HGNC:7127
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FCC2; COCA2; HNPCC; MLH-1; hMLH1; HNPCC2; LYNCH2; MMRCS1
Summary: The protein encoded by this gene can heterodimerize with mismatch repair endonuclease PMS2 to form MutL alpha, part of the DNA mismatch repair system. When MutL alpha is bound by MutS beta and some accessory proteins, the PMS2 subunit of MutL alpha introduces a single-strand break near DNA mismatches, providing an entry point for exonuclease degradation. The encoded protein is also involved in DNA damage signaling and can heterodimerize with DNA mismatch repair protein MLH3 to form MutL gamma, which is involved in meiosis. This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). [provided by RefSeq, Aug 2017]
Expression: Ubiquitous expression in testis (RPKM 17.8), thyroid (RPKM 13.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p22.2

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (36993466..37050846)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (36994839..37052189)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (37035009..37092337)

Chromosome 3 - NC_000003.12 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Microsatellite Instability and Mismatch Repair Deficiency Define a Distinct Subset of Lung Cancers Characterized by Smoking Exposure, High Tumor Mutational Burden, and Recurrent Somatic MLH1 Inactivation.
Title: Microsatellite Instability and Mismatch Repair Deficiency Define a Distinct Subset of Lung Cancers Characterized by Smoking Exposure, High Tumor Mutational Burden, and Recurrent Somatic MLH1 Inactivation.
[Characteristics and clinical analysis of MLH1 c.463dupC gene mutation in a Lynch syndrome family].
Title: [Characteristics and clinical analysis of MLH1 c.463dupC gene mutation in a Lynch syndrome family].
Rare single-nucleotide variants of MLH1 and MSH2 genes in patients with Lynch syndrome.
Title: Rare single-nucleotide variants of MLH1 and MSH2 genes in patients with Lynch syndrome.
MLH1 Promotor Hypermethylation in Colorectal and Endometrial Carcinomas from Patients with Lynch Syndrome.
Title: MLH1 Promotor Hypermethylation in Colorectal and Endometrial Carcinomas from Patients with Lynch Syndrome.
MLH1 Promoter Methylation Could Be the Second Hit in Lynch Syndrome Carcinogenesis.
Title: MLH1 Promoter Methylation Could Be the Second Hit in Lynch Syndrome Carcinogenesis.
Role of MLH1 and MSH2 deficiency in the development of tumorigenesis and chemo-tolerance of cervical Carcinoma: Clinical implications.
Title: Role of MLH1 and MSH2 deficiency in the development of tumorigenesis and chemo-tolerance of cervical Carcinoma: Clinical implications.
[Comprehensive assessment of mismatch repair and microsatellite instability status in molecular classification of endometrial carcinoma].
Title: [Comprehensive assessment of mismatch repair and microsatellite instability status in molecular classification of endometrial carcinoma].
Both MLH1 deficiency and BRAFV600E mutation are a unique characteristic of colorectal medullary carcinoma: An observational study.
Title: Both MLH1 deficiency and BRAFV600E mutation are a unique characteristic of colorectal medullary carcinoma: An observational study.
Whole exome sequencing identifies MAP3K1, MSH2, and MLH1 as potential cancer-predisposing genes in familial early-onset colorectal cancer.
Title: Whole exome sequencing identifies MAP3K1, MSH2, and MLH1 as potential cancer-predisposing genes in familial early-onset colorectal cancer.
MLH1 rs1800734 Pathogenic Variant among Patients with Colorectal Cancer in the Lower Northeastern Region of Thailand.
Title: MLH1 rs1800734 Pathogenic Variant among Patients with Colorectal Cancer in the Lower Northeastern Region of Thailand.

Submit: New GeneRIF Correction See all GeneRIFs (777)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Professional guidelines

Description
Professional guideline ACMG 2013 The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in MLH1 that are pathogenic or expected to be pathogenic. GuidelinePubMed

Associated conditions

Description	Tests
Colorectal cancer, hereditary nonpolyposis, type 2 MedGen: C1333991 OMIM: 609310 GeneReviews: Lynch Syndrome	Compare labs
Lynch syndrome MedGen: C4552100 GeneReviews: Lynch Syndrome	Compare labs
Mismatch repair cancer syndrome 1 MedGen: C5399763 OMIM: 276300 GeneReviews: Lynch Syndrome	Compare labs
Muir-Torre syndrome MedGen: C1321489 OMIM: 158320 GeneReviews: Lynch Syndrome	Compare labs

Copy number response

Description
Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-10-13) ClinGen Genome Curation PagePubMed Triplosensitivity No evidence available (Last evaluated 2021-10-13) ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D3S3458 (e-PCR)
- UniSTS:153903

D3S2795E (e-PCR)
- UniSTS:150834

PMC23037P1 (e-PCR)
- UniSTS:272188

PMC23037P2 (e-PCR)
- UniSTS:272189

PMC23037P3 (e-PCR)
- UniSTS:272190

D3S1611 (e-PCR), detects polymorphism
- UniSTS:31568

G67469 (e-PCR)
- UniSTS:186716

G67470 (e-PCR)
- UniSTS:186717

csnphmlh1-pcr17-1 (e-PCR)
- UniSTS:243038

csnphmlh1-pcr8-1 (e-PCR)
- UniSTS:243039

D3S1007 (e-PCR)
- UniSTS:42345

G63281 (e-PCR)
- UniSTS:140394

PMC140684P3 (e-PCR)
- UniSTS:270962

PMC140684P4 (e-PCR)
- UniSTS:270963

PMC140684P5 (e-PCR)
- UniSTS:270964

PMC140684P6 (e-PCR)
- UniSTS:270965

PMC140684P7 (e-PCR)
- UniSTS:270966

PMC140684P8 (e-PCR)
- UniSTS:270967

GDB:549088 (e-PCR)
- UniSTS:157607

GDB:549093 (e-PCR)
- UniSTS:157608

GDB:549098 (e-PCR)
- UniSTS:157609

SHGC-12575 (e-PCR)
- UniSTS:71374

D3S3281 (e-PCR)
- UniSTS:153819

PMC100312P1 (e-PCR)
- UniSTS:270056

D3S3135 (e-PCR)
- UniSTS:47869

Gene Ontology Provided by GOA

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-dependent DNA damage sensor activity	IEA Inferred from Electronic Annotation more info
contributes_to MutSalpha complex binding	IDA Inferred from Direct Assay more info	PubMed
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables guanine/thymine mispair binding	IEA Inferred from Electronic Annotation more info
contributes_to protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to single-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in double-strand break repair via nonhomologous end joining	IEA Inferred from Electronic Annotation more info
involved_in female meiosis chromosome segregation	IEA Inferred from Electronic Annotation more info
involved_in homologous chromosome pairing at meiosis	IEA Inferred from Electronic Annotation more info
involved_in intrinsic apoptotic signaling pathway in response to DNA damage	IEA Inferred from Electronic Annotation more info
involved_in isotype switching	IEA Inferred from Electronic Annotation more info
involved_in male meiosis chromosome segregation	IEA Inferred from Electronic Annotation more info
involved_in meiotic metaphase I homologous chromosome alignment	IEA Inferred from Electronic Annotation more info
involved_in meiotic spindle midzone assembly	IEA Inferred from Electronic Annotation more info
involved_in meiotic telomere clustering	IEA Inferred from Electronic Annotation more info
involved_in mismatch repair	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within mismatch repair	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of mitotic recombination	IEA Inferred from Electronic Annotation more info
involved_in nuclear-transcribed mRNA poly(A) tail shortening	IEA Inferred from Electronic Annotation more info
involved_in oogenesis	IEA Inferred from Electronic Annotation 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 IgG isotypes	IEA Inferred from Electronic Annotation more info
involved_in resolution of meiotic recombination intermediates	IEA Inferred from Electronic Annotation more info
involved_in response to bacterium	IEA Inferred from Electronic Annotation more info
involved_in somatic hypermutation of immunoglobulin genes	IBA Inferred from Biological aspect of Ancestor more info
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of MutLalpha complex	IBA Inferred from Biological aspect of Ancestor more info
located_in chiasma	IEA Inferred from Electronic Annotation more info
located_in chromosome	ISS Inferred from Sequence or Structural Similarity more info
located_in late recombination nodule	IEA Inferred from Electronic Annotation more info
located_in male germ cell nucleus	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IC Inferred by Curator more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in synaptonemal complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: DNA mismatch repair protein Mlh1

Names: mutL homolog 1, colon cancer, nonpolyposis type 2

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.

Genomic

NG_007109.2 RefSeqGene

Range

5001..62497

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_216

mRNA and Protein(s)

NM_000249.4 → NP_000240.1 DNA mismatch repair protein Mlh1 isoform 1

See identical proteins and their annotated locations for NP_000240.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

BC006850

Consensus CDS

CCDS2663.1

UniProtKB/Swiss-Prot

B4DI13, B4DQ11, E9PCU2, P40692

UniProtKB/TrEMBL

B2R6K0, Q5GJ64

Related

ENSP00000231790.3, ENST00000231790.8

Conserved Domains (2) summary

TIGR00585
Location:6 → 315

mutl; DNA mismatch repair protein MutL

pfam16413
Location:502 → 756

Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
NM_001167617.3 → NP_001161089.1 DNA mismatch repair protein Mlh1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains a distinct 5'-terminal exon and therefore lacks an in-frame portion of the 5' coding region compared to variant 1. The resulting isoform (2) has a shorter N-terminus compared to isoform 1. Variants 2 and 13 both encode the same isoform (2).

Source sequence(s)

AC006583, AC011816

Consensus CDS

CCDS54562.1

UniProtKB/TrEMBL

Q5GJ64

Related

ENSP00000402564.1, ENST00000435176.5

Conserved Domains (2) summary

pfam16413
Location:404 → 658

Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus

cl28386
Location:4 → 217

MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
NM_001167618.3 → NP_001161090.1 DNA mismatch repair protein Mlh1 isoform 3

See identical proteins and their annotated locations for NP_001161090.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains a distinct 5'-terminal exon and uses an alternate splice site in a 5' exon and therefore lacks an in-frame portion of the 5' coding region compared to variant 1. The resulting isoform (3) has a shorter N-terminus compared to isoform 1. Variants 3, 4, and 6-12 all encode the same isoform (3).

Source sequence(s)

AC006583, AC011816

Consensus CDS

CCDS54563.1

UniProtKB/TrEMBL

B7Z821

Related

ENSP00000398272.2, ENST00000455445.6

Conserved Domains (3) summary

cd03483
Location:1 → 94

MutL_Trans_MLH1; 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 ...

pfam16413
Location:261 → 515

Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus

cl28386
Location:19 → 186

MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
NM_001167619.3 → NP_001161091.1 DNA mismatch repair protein Mlh1 isoform 3

See identical proteins and their annotated locations for NP_001161091.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) contains a distinct 5'-terminal exon and lacks a 5' exon and therefore lacks an in-frame portion of the 5' coding region compared to variant 1. The resulting isoform (3) has a shorter N-terminus compared to isoform 1. Variants 3, 4, and 6-12 all encode the same isoform (3).

Source sequence(s)

AC006583, AC011816

Consensus CDS

CCDS54563.1

UniProtKB/TrEMBL

B7Z821

Related

ENSP00000443665.1, ENST00000539477.6

Conserved Domains (3) summary

cd03483
Location:1 → 94

MutL_Trans_MLH1; 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 ...

pfam16413
Location:261 → 515

Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus

cl28386
Location:19 → 186

MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
NM_001258271.2 → NP_001245200.1 DNA mismatch repair protein Mlh1 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AB209848, BC006850, CN414955

UniProtKB/TrEMBL

A0A669KBK2, H0Y818

Related

ENSP00000416687.3, ENST00000456676.7

Conserved Domains (4) summary

cd03483
Location:211 → 335

MutL_Trans_MLH1; 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 ...

TIGR00585
Location:6 → 315

mutl; DNA mismatch repair protein MutL

pfam16413
Location:501 → 687

Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus

cl00075
Location:31 → 132

HATPase_c; Histidine kinase-like ATPases; This family includes several ATP-binding proteins for example: histidine kinase, DNA gyrase B, topoisomerases, heat shock protein HSP90, phytochrome-like ATPases and DNA mismatch repair proteins
NM_001258273.2 → NP_001245202.1 DNA mismatch repair protein Mlh1 isoform 3

See identical proteins and their annotated locations for NP_001245202.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks an alternate exon compared to variant 1, that causes a frameshift. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1. Variants 3, 4, and 6-12 all encode the same isoform (3).

Source sequence(s)

AK316264, BC006850, CN414955

Consensus CDS

CCDS54563.1

UniProtKB/TrEMBL

B7Z821

Related

ENSP00000444286.2, ENST00000536378.5

Conserved Domains (3) summary

cd03483
Location:1 → 94

MutL_Trans_MLH1; 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 ...

pfam16413
Location:261 → 515

Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus

cl28386
Location:19 → 186

MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
NM_001258274.3 → NP_001245203.1 DNA mismatch repair protein Mlh1 isoform 3

See identical proteins and their annotated locations for NP_001245203.1

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the 5' UTR and contains an alternate exon compared to variant 1, that causes a frameshift. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1. Variants 3, 4, and 6-12 all encode the same isoform (3).

Source sequence(s)

AC006583, AC011816

Consensus CDS

CCDS54563.1

UniProtKB/TrEMBL

B7Z821

Related

ENSP00000402667.2, ENST00000458205.6

Conserved Domains (3) summary

cd03483
Location:1 → 94

MutL_Trans_MLH1; 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 ...

pfam16413
Location:261 → 515

Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus

cl28386
Location:19 → 186

MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
NM_001354615.2 → NP_001341544.1 DNA mismatch repair protein Mlh1 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (8), as well as variants 3, 4, 6, 7, and 9-12, encodes isoform 3.

Source sequence(s)

AC006583, AC011816

Consensus CDS

CCDS54563.1

UniProtKB/TrEMBL

B7Z821

Conserved Domains (3) summary

cd03483
Location:1 → 94

MutL_Trans_MLH1; 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 ...

pfam16413
Location:261 → 515

Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus

cl28386
Location:19 → 186

MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
NM_001354616.2 → NP_001341545.1 DNA mismatch repair protein Mlh1 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (9), as well as variants 3, 4, 6-8, and 10-12, encodes isoform 3.

Source sequence(s)

AC006583, AC011816

Consensus CDS

CCDS54563.1

UniProtKB/TrEMBL

B7Z821

Conserved Domains (3) summary

cd03483
Location:1 → 94

MutL_Trans_MLH1; 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 ...

pfam16413
Location:261 → 515

Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus

cl28386
Location:19 → 186

MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
NM_001354617.2 → NP_001341546.1 DNA mismatch repair protein Mlh1 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (10), as well as variants 3, 4, 6-9, 11, and 12, encodes isoform 3.

Source sequence(s)

AC006583, AC011816

Consensus CDS

CCDS54563.1

UniProtKB/TrEMBL

B7Z821

Conserved Domains (3) summary

cd03483
Location:1 → 94

MutL_Trans_MLH1; 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 ...

pfam16413
Location:261 → 515

Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus

cl28386
Location:19 → 186

MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
NM_001354618.2 → NP_001341547.1 DNA mismatch repair protein Mlh1 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (11), as well as variants 3, 4, 6-10, and 12, encodes isoform 3.

Source sequence(s)

AC006583, AC011816

Consensus CDS

CCDS54563.1

UniProtKB/TrEMBL

B7Z821

Conserved Domains (3) summary

cd03483
Location:1 → 94

MutL_Trans_MLH1; 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 ...

pfam16413
Location:261 → 515

Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus

cl28386
Location:19 → 186

MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
NM_001354619.2 → NP_001341548.1 DNA mismatch repair protein Mlh1 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (12), as well as variants 3, 4, and 6-11, encodes isoform 3.

Source sequence(s)

AC006583, AC011816

Consensus CDS

CCDS54563.1

UniProtKB/TrEMBL

B7Z821

Related

ENSP00000501081.1, ENST00000674019.1

Conserved Domains (3) summary

cd03483
Location:1 → 94

MutL_Trans_MLH1; 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 ...

pfam16413
Location:261 → 515

Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus

cl28386
Location:19 → 186

MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
NM_001354620.2 → NP_001341549.1 DNA mismatch repair protein Mlh1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (13), as well as variant 2, encodes isoform 2.

Source sequence(s)

AC006583, AC011816

Consensus CDS

CCDS54562.1

UniProtKB/TrEMBL

Q5GJ64

Conserved Domains (2) summary

pfam16413
Location:404 → 658

Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus

cl28386
Location:4 → 217

MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
NM_001354621.2 → NP_001341550.1 DNA mismatch repair protein Mlh1 isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (14), as well as variants 15 and 16, encodes isoform 5.

Source sequence(s)

AC006583, AC011816

Conserved Domains (1) summary

pfam16413
Location:161 → 415

Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
NM_001354622.2 → NP_001341551.1 DNA mismatch repair protein Mlh1 isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (15), as well as variants 14 and 16, encodes isoform 5.

Source sequence(s)

AC006583, AC011816

Conserved Domains (1) summary

pfam16413
Location:161 → 415

Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
NM_001354623.2 → NP_001341552.1 DNA mismatch repair protein Mlh1 isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (16), as well as variants 14 and 15, encodes isoform 5.

Source sequence(s)

AC006583, AC011816

Conserved Domains (1) summary

pfam16413
Location:161 → 415

Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
NM_001354624.2 → NP_001341553.1 DNA mismatch repair protein Mlh1 isoform 6

Status: REVIEWED

Description

Transcript Variant: This variant (17), as well as variants 18-20, encodes isoform 6.

Source sequence(s)

AC006583, AC011816

Conserved Domains (1) summary

pfam16413
Location:144 → 398

Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
NM_001354625.2 → NP_001341554.1 DNA mismatch repair protein Mlh1 isoform 6

Status: REVIEWED

Description

Transcript Variant: This variant (18), as well as variants 17, 19, and 20, encodes isoform 6.

Source sequence(s)

AC006583, AC011816

Conserved Domains (1) summary

pfam16413
Location:144 → 398

Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
NM_001354626.2 → NP_001341555.1 DNA mismatch repair protein Mlh1 isoform 6

Status: REVIEWED

Description

Transcript Variant: This variant (19), as well as variants 17, 18, and 20, encodes isoform 6.

Source sequence(s)

AC006583, AC011816

Conserved Domains (1) summary

pfam16413
Location:144 → 398

Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
NM_001354627.2 → NP_001341556.1 DNA mismatch repair protein Mlh1 isoform 6

Status: REVIEWED

Description

Transcript Variant: This variant (20), as well as variants 17-19, encodes isoform 6.

Source sequence(s)

AC006583, AC011816

Conserved Domains (1) summary

pfam16413
Location:144 → 398

Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
NM_001354628.2 → NP_001341557.1 DNA mismatch repair protein Mlh1 isoform 7

Status: REVIEWED

Source sequence(s)

AC006583, AC011816

UniProtKB/TrEMBL

A0A087WX20, B2R6K0, Q5GJ64

Related

ENSP00000480669.3, ENST00000616768.6

Conserved Domains (2) summary

TIGR00585
Location:6 → 315

mutl; DNA mismatch repair protein MutL

pfam16413
Location:502 → 725

Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
NM_001354629.2 → NP_001341558.1 DNA mismatch repair protein Mlh1 isoform 8

Status: REVIEWED

Source sequence(s)

AC006583, AC011816

UniProtKB/TrEMBL

B2R6K0, Q5GJ64

Conserved Domains (2) summary

TIGR00585
Location:6 → 282

mutl; DNA mismatch repair protein MutL

pfam16413
Location:469 → 723

Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
NM_001354630.2 → NP_001341559.1 DNA mismatch repair protein Mlh1 isoform 9

Status: REVIEWED

Source sequence(s)

AC006583, AC011816

UniProtKB/TrEMBL

A0A669KAW3, B2R6K0, Q5GJ64

Related

ENSP00000500979.2, ENST00000673673.2

Conserved Domains (2) summary

TIGR00585
Location:6 → 315

mutl; DNA mismatch repair protein MutL

pfam16413
Location:502 → 701

Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

36993466..37050846

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047448155.1 → XP_047304111.1 DNA mismatch repair protein Mlh1 isoform X3
XM_005265161.3 → XP_005265218.1 DNA mismatch repair protein Mlh1 isoform X2

UniProtKB/TrEMBL

B2R6K0, Q5GJ64

Conserved Domains (4) summary

TIGR00585
Location:6 → 246

mutl; DNA mismatch repair protein MutL

pfam16413
Location:432 → 687

Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus

cl00075
Location:31 → 132

HATPase_c; Histidine kinase-like ATPases; This family includes several ATP-binding proteins for example: histidine kinase, DNA gyrase B, topoisomerases, heat shock protein HSP90, phytochrome-like ATPases and DNA mismatch repair proteins

cl02783
Location:227 → 266

TopoII_MutL_Trans; MutL_Trans: transducer domain, having a ribosomal S5 domain 2-like fold, conserved in the C-terminal domain of type II DNA topoisomerases (Topo II) and DNA mismatch repair (MutL/MLH1/PMS2) proteins. This transducer domain is homologous to the second ...
XM_047448152.1 → XP_047304108.1 DNA mismatch repair protein Mlh1 isoform X1
XM_047448153.1 → XP_047304109.1 DNA mismatch repair protein Mlh1 isoform X3

Related

ENSP00000518393.1, ENST00000492474.6
XM_047448154.1 → XP_047304110.1 DNA mismatch repair protein Mlh1 isoform X3