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MLH1 mutL homolog 1 [ Homo sapiens (human) ]

Gene ID: 4292, updated on 12-Sep-2021

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
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; hMLH1; HNPCC2; 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
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Genomic context

See MLH1 in Genome Data Viewer
Location:
3p22.2
Exon count:
21
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (36993487..37050846)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (37035009..37092337)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene protease associated domain containing 1 pseudogene 1 Neighboring gene EPM2A interacting protein 1 Neighboring gene ribosomal protein L29 pseudogene 11 Neighboring gene LRR binding FLII interacting protein 2 Neighboring gene ubiquitin conjugating enzyme E2 D3 pseudogene 2 Neighboring gene RNA, U6 small nuclear 1301, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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
Lynch syndrome
MedGen: C4552100 GeneReviews: Lynch Syndrome
Compare labs
Lynch syndrome II
MedGen: C1333991 OMIM: 609310 GeneReviews: Lynch Syndrome
Compare labs
Muir-Torre syndrome
MedGen: C1321489 OMIM: 158320 GeneReviews: Lynch Syndrome
Compare labs
Turcot syndrome
MedGen: C5399763 OMIM: 276300 GeneReviews: Lynch Syndrome
Compare labs

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC5172

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
PubMed 
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 plate congression 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
PubMed 
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
PubMed 
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
PubMed 
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 PubMed 
part_of mismatch repair complex IBA
Inferred from Biological aspect of Ancestor
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

Preferred Names
DNA mismatch repair protein Mlh1
Names
mutL homolog 1, colon cancer, nonpolyposis type 2

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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

  1. NG_007109.2 RefSeqGene

    Range
    5001..62497
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_216

mRNA and Protein(s)

  1. NM_000249.4NP_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
    P40692
    Related
    ENSP00000231790.3, ENST00000231790.8
    Conserved Domains (2) summary
    TIGR00585
    Location:6315
    mutl; DNA mismatch repair protein MutL
    pfam16413
    Location:502756
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
  2. NM_001167617.3NP_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/Swiss-Prot
    P40692
    Related
    ENSP00000402564.1, ENST00000435176.5
    Conserved Domains (2) summary
    pfam16413
    Location:404658
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    cl28386
    Location:4217
    MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
  3. NM_001167618.3NP_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/Swiss-Prot
    P40692
    UniProtKB/TrEMBL
    A0A024R2S9
    Related
    ENSP00000398272.2, ENST00000455445.6
    Conserved Domains (3) summary
    cd03483
    Location:194
    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:261515
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    cl28386
    Location:19186
    MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
  4. NM_001167619.3NP_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/Swiss-Prot
    P40692
    UniProtKB/TrEMBL
    A0A024R2S9
    Related
    ENSP00000443665.1, ENST00000539477.6
    Conserved Domains (3) summary
    cd03483
    Location:194
    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:261515
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    cl28386
    Location:19186
    MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
  5. NM_001258271.2NP_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/Swiss-Prot
    P40692
    UniProtKB/TrEMBL
    Q59EG3
    Related
    ENSP00000416687.2, ENST00000456676.6
    Conserved Domains (4) summary
    cd03483
    Location:211335
    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:6315
    mutl; DNA mismatch repair protein MutL
    pfam16413
    Location:501687
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    cl00075
    Location:31132
    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
  6. NM_001258273.2NP_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/Swiss-Prot
    P40692
    UniProtKB/TrEMBL
    A0A024R2S9
    Related
    ENSP00000444286.2, ENST00000536378.5
    Conserved Domains (3) summary
    cd03483
    Location:194
    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:261515
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    cl28386
    Location:19186
    MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
  7. NM_001258274.3NP_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/Swiss-Prot
    P40692
    UniProtKB/TrEMBL
    A0A024R2S9
    Related
    ENSP00000402667.2, ENST00000458205.6
    Conserved Domains (3) summary
    cd03483
    Location:194
    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:261515
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    cl28386
    Location:19186
    MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
  8. NM_001354615.2NP_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
    Conserved Domains (3) summary
    cd03483
    Location:194
    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:261515
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    cl28386
    Location:19186
    MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
  9. NM_001354616.2NP_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
    Conserved Domains (3) summary
    cd03483
    Location:194
    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:261515
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    cl28386
    Location:19186
    MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
  10. NM_001354617.2NP_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
    Conserved Domains (3) summary
    cd03483
    Location:194
    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:261515
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    cl28386
    Location:19186
    MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
  11. NM_001354618.2NP_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
    Conserved Domains (3) summary
    cd03483
    Location:194
    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:261515
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    cl28386
    Location:19186
    MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
  12. NM_001354619.2NP_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
    Related
    ENSP00000501081.1, ENST00000674019.1
    Conserved Domains (3) summary
    cd03483
    Location:194
    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:261515
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    cl28386
    Location:19186
    MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
  13. NM_001354620.2NP_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
    Conserved Domains (2) summary
    pfam16413
    Location:404658
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    cl28386
    Location:4217
    MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
  14. NM_001354621.2NP_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:161415
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
  15. NM_001354622.2NP_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:161415
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
  16. NM_001354623.2NP_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:161415
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
  17. NM_001354624.2NP_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:144398
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
  18. NM_001354625.2NP_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:144398
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
  19. NM_001354626.2NP_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:144398
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
  20. NM_001354627.2NP_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:144398
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
  21. NM_001354628.2NP_001341557.1  DNA mismatch repair protein Mlh1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC006583, AC011816
    Conserved Domains (2) summary
    TIGR00585
    Location:6315
    mutl; DNA mismatch repair protein MutL
    pfam16413
    Location:502725
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
  22. NM_001354629.2NP_001341558.1  DNA mismatch repair protein Mlh1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC006583, AC011816
    Conserved Domains (2) summary
    TIGR00585
    Location:6282
    mutl; DNA mismatch repair protein MutL
    pfam16413
    Location:469723
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
  23. NM_001354630.2NP_001341559.1  DNA mismatch repair protein Mlh1 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC006583, AC011816
    Related
    ENSP00000500979.1, ENST00000673673.1
    Conserved Domains (2) summary
    TIGR00585
    Location:6315
    mutl; DNA mismatch repair protein MutL
    pfam16413
    Location:502701
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    36993487..37050846
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005265161.2XP_005265218.1  DNA mismatch repair protein Mlh1 isoform X1

    Conserved Domains (4) summary
    TIGR00585
    Location:6246
    mutl; DNA mismatch repair protein MutL
    pfam16413
    Location:432687
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    cl00075
    Location:31132
    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:227266
    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 ...
  2. XM_017006450.2XP_016861939.1  DNA mismatch repair protein Mlh1 isoform X2

    Related
    ENSP00000480669.2, ENST00000616768.5
    Conserved Domains (1) summary
    pfam16413
    Location:161415
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
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