PMS1 PMS1 homolog 1, mismatch repair system component [Homo sapiens (human)] - Gene

Summary

Official Symbol: PMS1provided by HGNC
Official Full Name: PMS1 homolog 1, mismatch repair system componentprovided by HGNC
Primary source: HGNC:HGNC:9121
See related: Ensembl:ENSG00000064933 MIM:600258; AllianceGenome:HGNC:9121
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: MLH2; PMSL1; hPMS1; HNPCC3
Summary: This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair protein. Mutations in this gene cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch syndrome. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in testis (RPKM 8.3), endometrium (RPKM 3.7) and 24 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 2q32.2

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (189784450..189877629)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (190273733..190366996)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (190649176..190742355)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Analysis of the MLH1, MLH2, MLH6, PMS2 genes and their correlations with clinical data in rectal mucinous adenocarcinoma.
Title: Analysis of the MLH1, MLH2, MLH6, PMS2 genes and their correlations with clinical data in rectal mucinous adenocarcinoma.
Investigation of discordant sibling pairs from hereditary breast cancer families and analysis of a rare PMS1 variant.
Title: Investigation of discordant sibling pairs from hereditary breast cancer families and analysis of a rare PMS1 variant.
Study suggests that rs1233255 SNP in PMS1 is associated with acute adverse events (AEs), and three SNPs, including rs4920657, rs5743030 and rs5743100 in PMS1, are associated with survival of rectal cancer patients receiving postoperative chemoradiotherapy (CRT). Therefore, these polymorphisms may be potential independent biomarkers for predicting AEs and prognosis in rectal cancer patients receiving postoperative CRT.
Title: Associations of Genetic Variations in Mismatch Repair Genes MSH3 and PMS1 with Acute Adverse Events and Survival in Patients with Rectal Cancer Receiving Postoperative Chemoradiotherapy.
Genome-wide association study identifies variants in PMS1 associated with serum ferritin in a Chinese population.
Title: Genome-wide association study identifies variants in PMS1 associated with serum ferritin in a Chinese population.
These studies establish that the Mlh1-Pms1 endonuclease is required for MMR in a previously uncharacterized Exo1-independent MMR pathway.
Title: Dominant mutations in S. cerevisiae PMS1 identify the Mlh1-Pms1 endonuclease active site and an exonuclease 1-independent mismatch repair pathway.
PMS1 is most likely deregulated by post-transcriptional modification in oral squamous cell carcinoma.
Title: The mismatch repair gene hPMS1 (human postmeiotic segregation1) is down regulated in oral squamous cell carcinoma.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: A genome-wide association study of hypertension and blood pressure in African Americans.
Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genome-wide association study of blood pressure and hypertension.
Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
Title: Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk.
Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
Title: Polymorphism in the IL18 gene and epithelial ovarian cancer in non-Hispanic white women.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Lynch syndrome 1 MedGen: C2936783 OMIM: 120435 GeneReviews: Lynch Syndrome	Compare labs

EBI GWAS Catalog

Description
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-Wide Association Study Identifies Variants in PMS1 Associated with Serum Ferritin in a Chinese Population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

D2S2027 (e-PCR)
- UniSTS:32011

G35510 (e-PCR)
- UniSTS:44150

RH93649 (e-PCR)
- UniSTS:86159

GDB:581629 (e-PCR)
- UniSTS:157859

G67579 (e-PCR)
- UniSTS:207035

G67581 (e-PCR)
- UniSTS:207036

G67582 (e-PCR)
- UniSTS:207037

G67535 (e-PCR)
- UniSTS:207038

G67580 (e-PCR)
- UniSTS:207039

SGC38239 (e-PCR)
- UniSTS:23803

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
enables DNA binding	TAS Traceable Author Statement more info	PubMed
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables mismatched DNA binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in mismatch repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to xenobiotic stimulus	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 nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: PMS1 protein homolog 1

Names: DNA mismatch repair protein PMS1; PMS1 postmeiotic segregation increased 1; human homolog of yeast mutL; mismatch repair gene PMSL1; rhabdomyosarcoma antigen MU-RMS-40.10B; rhabdomyosarcoma antigen MU-RMS-40.10E

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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

NG_008648.1 RefSeqGene

Range

5001..98545

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_221

mRNA and Protein(s)

NM_000534.5 → NP_000525.1 PMS1 protein homolog 1 isoform a

See identical proteins and their annotated locations for NP_000525.1

Status: REVIEWED

Source sequence(s)

BC096330, BC096332, BM677668, DC347859

Consensus CDS

CCDS2302.1

UniProtKB/Swiss-Prot

D3DPI1, P54277, Q4VAL4, Q5FBZ3, Q5FBZ6, Q5FBZ8

UniProtKB/TrEMBL

B4DIH7

Related

ENSP00000406490.3, ENST00000441310.7

Conserved Domains (2) summary

cd01390
Location:572 → 636

HMGB-UBF_HMG-box; HMGB-UBF_HMG-box, class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone ...

TIGR00585
Location:1 → 318

mutl; DNA mismatch repair protein MutL
NM_001128143.2 → NP_001121615.1 PMS1 protein homolog 1 isoform b

See identical proteins and their annotated locations for NP_001121615.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) is also known as PMS1 nirs variant 7.

Source sequence(s)

AB102875, BM677668, DC347859

Consensus CDS

CCDS46474.1

UniProtKB/TrEMBL

B4DIH7

Related

ENSP00000387125.3, ENST00000409823.7

Conserved Domains (2) summary

cd01390
Location:533 → 597

HMGB-UBF_HMG-box; HMGB-UBF_HMG-box, class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone ...

TIGR00585
Location:1 → 279

mutl; DNA mismatch repair protein MutL
NM_001128144.2 → NP_001121616.1 PMS1 protein homolog 1 isoform c

See identical proteins and their annotated locations for NP_001121616.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) is also known as PMS1 nirs variant 2.

Source sequence(s)

AB102870, BC096330, BM677668, DC347859

Consensus CDS

CCDS46473.1

UniProtKB/TrEMBL

I6L9H5

Related

ENSP00000401064.2, ENST00000447232.6

Conserved Domains (4) summary

cd01390
Location:572 → 617

HMGB-UBF_HMG-box; HMGB-UBF_HMG-box, class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone ...

cd03485
Location:205 → 338

MutL_Trans_hPMS_1_like; MutL_Trans_hPMS1_like: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to human PSM1 (hPSM1) and yeast MLH2. hPSM1 and yMLH2 are members of the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is ...

TIGR00585
Location:1 → 318

mutl; DNA mismatch repair protein MutL

pfam02518
Location:18 → 105

HATPase_c; Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase
NM_001289408.2 → NP_001276337.1 PMS1 protein homolog 1 isoform d

See identical proteins and their annotated locations for NP_001276337.1

Status: REVIEWED

Source sequence(s)

AK295602, BC096332, BG195153, DC347859

Consensus CDS

CCDS74615.1

UniProtKB/TrEMBL

B4DIH7, B7ZAA0

Related

ENSP00000485312.1, ENST00000624204.3

Conserved Domains (2) summary

cd01390
Location:396 → 460

HMGB-UBF_HMG-box; HMGB-UBF_HMG-box, class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone ...

cd03485
Location:29 → 162

MutL_Trans_hPMS_1_like; MutL_Trans_hPMS1_like: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to human PSM1 (hPSM1) and yeast MLH2. hPSM1 and yMLH2 are members of the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is ...
NM_001289409.2 → NP_001276338.1 PMS1 protein homolog 1 isoform d

See identical proteins and their annotated locations for NP_001276338.1

Status: REVIEWED

Source sequence(s)

AK316215, BC096331, BG214666, DC347859

Consensus CDS

CCDS74615.1

UniProtKB/TrEMBL

B4DIH7, B7ZAA0

Related

ENSP00000398378.3, ENST00000432292.7

Conserved Domains (2) summary

cd01390
Location:396 → 460

HMGB-UBF_HMG-box; HMGB-UBF_HMG-box, class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone ...

cd03485
Location:29 → 162

MutL_Trans_hPMS_1_like; MutL_Trans_hPMS1_like: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to human PSM1 (hPSM1) and yeast MLH2. hPSM1 and yMLH2 are members of the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is ...
NM_001321044.2 → NP_001307973.1 PMS1 protein homolog 1 isoform f

Status: REVIEWED

Source sequence(s)

AK316215, AY540751, BM677668, DA389799, DC347859

UniProtKB/TrEMBL

I6L9H5

Conserved Domains (4) summary

cd01390
Location:533 → 601

HMGB-UBF_HMG-box; HMGB-UBF_HMG-box, class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone ...

cd03485
Location:194 → 299

MutL_Trans_hPMS_1_like; MutL_Trans_hPMS1_like: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to human PSM1 (hPSM1) and yeast MLH2. hPSM1 and yMLH2 are members of the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is ...

TIGR00585
Location:1 → 279

mutl; DNA mismatch repair protein MutL

pfam02518
Location:18 → 105

HATPase_c; Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase
NM_001321045.2 → NP_001307974.1 PMS1 protein homolog 1 isoform a

Status: REVIEWED

Source sequence(s)

AK316215, BC096332, BM677668, DB178424, DC347859

Consensus CDS

CCDS2302.1

UniProtKB/Swiss-Prot

D3DPI1, P54277, Q4VAL4, Q5FBZ3, Q5FBZ6, Q5FBZ8

UniProtKB/TrEMBL

B4DIH7

Conserved Domains (2) summary

cd01390
Location:572 → 636

HMGB-UBF_HMG-box; HMGB-UBF_HMG-box, class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone ...

TIGR00585
Location:1 → 318

mutl; DNA mismatch repair protein MutL
NM_001321046.2 → NP_001307975.1 PMS1 protein homolog 1 isoform e

Status: REVIEWED

Source sequence(s)

AK316215, BC096332, BM677668, DC347859, DC360786

UniProtKB/TrEMBL

B4DIH7

Conserved Domains (3) summary

cd01390
Location:511 → 575

HMGB-UBF_HMG-box; HMGB-UBF_HMG-box, class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone ...

cd03485
Location:144 → 277

MutL_Trans_hPMS_1_like; MutL_Trans_hPMS1_like: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to human PSM1 (hPSM1) and yeast MLH2. hPSM1 and yMLH2 are members of the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is ...

TIGR00585
Location:1 → 257

mutl; DNA mismatch repair protein MutL
NM_001321047.2 → NP_001307976.1 PMS1 protein homolog 1 isoform a

Status: REVIEWED

Source sequence(s)

AC013468, AK316215, BC096332, BG772717, BM677668, DC347859

Consensus CDS

CCDS2302.1

UniProtKB/Swiss-Prot

D3DPI1, P54277, Q4VAL4, Q5FBZ3, Q5FBZ6, Q5FBZ8

UniProtKB/TrEMBL

B4DIH7

Conserved Domains (2) summary

cd01390
Location:572 → 636

HMGB-UBF_HMG-box; HMGB-UBF_HMG-box, class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone ...

TIGR00585
Location:1 → 318

mutl; DNA mismatch repair protein MutL
NM_001321048.2 → NP_001307977.1 PMS1 protein homolog 1 isoform a

Status: REVIEWED

Source sequence(s)

AK316215, BC096332, BM677668, DA206770, DC347859

Consensus CDS

CCDS2302.1

UniProtKB/Swiss-Prot

D3DPI1, P54277, Q4VAL4, Q5FBZ3, Q5FBZ6, Q5FBZ8

UniProtKB/TrEMBL

B4DIH7

Conserved Domains (2) summary

cd01390
Location:572 → 636

HMGB-UBF_HMG-box; HMGB-UBF_HMG-box, class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone ...

TIGR00585
Location:1 → 318

mutl; DNA mismatch repair protein MutL
NM_001321049.2 → NP_001307978.1 PMS1 protein homolog 1 isoform g

Status: REVIEWED

Source sequence(s)

AC008122, BC008410, DC347859

Consensus CDS

CCDS82544.1

UniProtKB/TrEMBL

E9PC40, Q7KZT4

Related

ENSP00000386623.1, ENST00000409985.5

Conserved Domains (1) summary

cl00075
Location:20 → 61

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_001321051.2 → NP_001307980.1 PMS1 protein homolog 1 isoform h

Status: REVIEWED

Source sequence(s)

BC084548, DC347859

Consensus CDS

CCDS82543.1

UniProtKB/TrEMBL

Q5XG96, Q7KZT4

Related

ENSP00000363959.4, ENST00000374826.8

Conserved Domains (2) summary

pfam13900
Location:144 → 165

GVQW; Putative domain of unknown function

cl00075
Location:20 → 61

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

RNA

NR_110332.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (6) is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC008122, AY540751, CV570894

Related

ENST00000450931.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

189784450..189877629

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017004348.2 → XP_016859837.1 PMS1 protein homolog 1 isoform X4

UniProtKB/TrEMBL

I6L9H5

Conserved Domains (4) summary

cd01390
Location:572 → 617

HMGB-UBF_HMG-box; HMGB-UBF_HMG-box, class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone ...

cd03485
Location:205 → 338

MutL_Trans_hPMS_1_like; MutL_Trans_hPMS1_like: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to human PSM1 (hPSM1) and yeast MLH2. hPSM1 and yMLH2 are members of the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is ...

TIGR00585
Location:1 → 318

mutl; DNA mismatch repair protein MutL

pfam02518
Location:18 → 105

HATPase_c; Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase
XM_047444775.1 → XP_047300731.1 PMS1 protein homolog 1 isoform X1

UniProtKB/TrEMBL

B4DIH7
XM_024452966.2 → XP_024308734.1 PMS1 protein homolog 1 isoform X1

UniProtKB/TrEMBL

B4DIH7

Conserved Domains (2) summary

cd01390
Location:533 → 597

HMGB-UBF_HMG-box; HMGB-UBF_HMG-box, class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone ...

TIGR00585
Location:1 → 279

mutl; DNA mismatch repair protein MutL
XM_017004344.2 → XP_016859833.1 PMS1 protein homolog 1 isoform X1

UniProtKB/TrEMBL

B4DIH7

Conserved Domains (2) summary

cd01390
Location:533 → 597

HMGB-UBF_HMG-box; HMGB-UBF_HMG-box, class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone ...

TIGR00585
Location:1 → 279

mutl; DNA mismatch repair protein MutL
XM_017004350.2 → XP_016859839.1 PMS1 protein homolog 1 isoform X6

UniProtKB/TrEMBL

I6L9H5
XM_017004347.2 → XP_016859836.1 PMS1 protein homolog 1 isoform X2

UniProtKB/TrEMBL

B4DIH7
XM_047444777.1 → XP_047300733.1 PMS1 protein homolog 1 isoform X4

UniProtKB/TrEMBL

I6L9H5
XM_024452967.2 → XP_024308735.1 PMS1 protein homolog 1 isoform X1

UniProtKB/TrEMBL

B4DIH7

Conserved Domains (2) summary

cd01390
Location:533 → 597

HMGB-UBF_HMG-box; HMGB-UBF_HMG-box, class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone ...

TIGR00585
Location:1 → 279

mutl; DNA mismatch repair protein MutL
XM_047444778.1 → XP_047300734.1 PMS1 protein homolog 1 isoform X6

UniProtKB/TrEMBL

I6L9H5
XM_047444776.1 → XP_047300732.1 PMS1 protein homolog 1 isoform X3

UniProtKB/TrEMBL

E9PC65

Related

ENSP00000389938.1, ENST00000424307.5
XM_006712596.2 → XP_006712659.1 PMS1 protein homolog 1 isoform X5

UniProtKB/TrEMBL

B4DIH7

Conserved Domains (2) summary

cd01390
Location:387 → 451

HMGB-UBF_HMG-box; HMGB-UBF_HMG-box, class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone ...

cd03485
Location:20 → 153

MutL_Trans_hPMS_1_like; MutL_Trans_hPMS1_like: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to human PSM1 (hPSM1) and yeast MLH2. hPSM1 and yMLH2 are members of the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is ...

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

190273733..190366996

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054342584.1 → XP_054198559.1 PMS1 protein homolog 1 isoform X4

UniProtKB/TrEMBL

I6L9H5
XM_054342578.1 → XP_054198553.1 PMS1 protein homolog 1 isoform X1

UniProtKB/TrEMBL

B4DIH7
XM_054342579.1 → XP_054198554.1 PMS1 protein homolog 1 isoform X1

UniProtKB/TrEMBL

B4DIH7
XM_054342586.1 → XP_054198561.1 PMS1 protein homolog 1 isoform X6

UniProtKB/TrEMBL

I6L9H5
XM_054342581.1 → XP_054198556.1 PMS1 protein homolog 1 isoform X2

UniProtKB/TrEMBL

B4DIH7
XM_054342583.1 → XP_054198558.1 PMS1 protein homolog 1 isoform X4

UniProtKB/TrEMBL

I6L9H5
XM_054342580.1 → XP_054198555.1 PMS1 protein homolog 1 isoform X1

UniProtKB/TrEMBL

B4DIH7
XM_054342587.1 → XP_054198562.1 PMS1 protein homolog 1 isoform X6

UniProtKB/TrEMBL

I6L9H5
XM_054342582.1 → XP_054198557.1 PMS1 protein homolog 1 isoform X3

UniProtKB/TrEMBL

E9PC65
XM_054342577.1 → XP_054198552.1 PMS1 protein homolog 1 isoform X1

UniProtKB/TrEMBL

B4DIH7
XM_054342585.1 → XP_054198560.1 PMS1 protein homolog 1 isoform X5

UniProtKB/TrEMBL

B4DIH7