Pms1 PMS1 homolog 1, mismatch repair system component [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pms1provided by MGI
Official Full Name: PMS1 homolog 1, mismatch repair system componentprovided by MGI
Primary source: MGI:MGI:1202302
See related: Ensembl:ENSMUSG00000026098 AllianceGenome:MGI:1202302
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Predicted to enable ATP hydrolysis activity and enzyme binding activity. Acts upstream of or within mismatch repair. Predicted to be located in nucleus. Predicted to be part of MutLalpha complex. Is expressed in several structures, including central nervous system; early conceptus; genitourinary system; gut; and respiratory system. Human ortholog(s) of this gene implicated in Lynch syndrome; dermatomyositis; pancreatic ductal carcinoma; and polymyositis. Orthologous to human PMS1 (PMS1 homolog 1, mismatch repair system component). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in CNS E11.5 (RPKM 3.0), liver E14 (RPKM 1.8) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 C1.1; 1 26.99 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (53225794..53336190, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (53189187..53297031, complement)

Chromosome 1 - NC_000067.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification PMS1 and PMS2 as potential meiotic substrates of CDK2 activity.
Title: Identification PMS1 and PMS2 as potential meiotic substrates of CDK2 activity.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP hydrolysis activity	IBA Inferred from Biological aspect of Ancestor more info
enables enzyme binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in mismatch repair	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within mismatch repair	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
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: PMS1 protein homolog 1

Names: postmeiotic segregation increased 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_153556.2 → NP_705784.1 PMS1 protein homolog 1

See identical proteins and their annotated locations for NP_705784.1

Status: VALIDATED

Source sequence(s)

BC028939, CJ056105

Consensus CDS

CCDS14951.1

UniProtKB/TrEMBL

Q8K119

Related

ENSMUSP00000027267.8, ENSMUST00000027267.14

Conserved Domains (3) summary

COG5648
Location:559 → 708

NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]

cd01390
Location:559 → 623

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 chromosomal ...

TIGR00585
Location:1 → 318

mutl; DNA mismatch repair protein MutL

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000067.7 Reference GRCm39 C57BL/6J

Range

53225794..53336190 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006495942.5 → XP_006496005.1 PMS1 protein homolog 1 isoform X1

See identical proteins and their annotated locations for XP_006496005.1

UniProtKB/TrEMBL

Q8K119

Conserved Domains (3) summary

COG5648
Location:559 → 708

NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]

cd01390
Location:559 → 623

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 chromosomal ...

TIGR00585
Location:1 → 318

mutl; DNA mismatch repair protein MutL
XM_006495938.5 → XP_006496001.1 PMS1 protein homolog 1 isoform X1

See identical proteins and their annotated locations for XP_006496001.1

UniProtKB/TrEMBL

Q8K119

Conserved Domains (3) summary

COG5648
Location:559 → 708

NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]

cd01390
Location:559 → 623

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 chromosomal ...

TIGR00585
Location:1 → 318

mutl; DNA mismatch repair protein MutL
XM_006495939.5 → XP_006496002.1 PMS1 protein homolog 1 isoform X1

See identical proteins and their annotated locations for XP_006496002.1

UniProtKB/TrEMBL

Q8K119

Conserved Domains (3) summary

COG5648
Location:559 → 708

NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]

cd01390
Location:559 → 623

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 chromosomal ...

TIGR00585
Location:1 → 318

mutl; DNA mismatch repair protein MutL
XM_011238497.4 → XP_011236799.1 PMS1 protein homolog 1 isoform X1

See identical proteins and their annotated locations for XP_011236799.1

UniProtKB/TrEMBL

Q8K119

Conserved Domains (3) summary

COG5648
Location:559 → 708

NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]

cd01390
Location:559 → 623

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 chromosomal ...

TIGR00585
Location:1 → 318

mutl; DNA mismatch repair protein MutL
XM_036164396.1 → XP_036020289.1 PMS1 protein homolog 1 isoform X4

Conserved Domains (2) summary

COG5648
Location:227 → 376

NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]

cd01390
Location:227 → 291

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 chromosomal ...
XM_006495941.5 → XP_006496004.1 PMS1 protein homolog 1 isoform X1

See identical proteins and their annotated locations for XP_006496004.1

UniProtKB/TrEMBL

Q8K119

Conserved Domains (3) summary

COG5648
Location:559 → 708

NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]

cd01390
Location:559 → 623

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 chromosomal ...

TIGR00585
Location:1 → 318

mutl; DNA mismatch repair protein MutL
XM_006495944.5 → XP_006496007.1 PMS1 protein homolog 1 isoform X2

See identical proteins and their annotated locations for XP_006496007.1

Conserved Domains (3) summary

COG5648
Location:381 → 530

NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]

cd01390
Location:381 → 445

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 chromosomal ...

cd03485
Location:27 → 160

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 ...
XM_036164395.1 → XP_036020288.1 PMS1 protein homolog 1 isoform X3

Conserved Domains (3) summary

COG5648
Location:352 → 501

NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]

cd01390
Location:352 → 416

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 chromosomal ...

cd03485
Location:1 → 131

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 ...
XM_006495943.5 → XP_006496006.1 PMS1 protein homolog 1 isoform X2

See identical proteins and their annotated locations for XP_006496006.1

Conserved Domains (3) summary

COG5648
Location:381 → 530

NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]

cd01390
Location:381 → 445

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 chromosomal ...

cd03485
Location:27 → 160

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 ...