Human_Genes_Functions
Local prototype • PDO SQLite primary • read-only query mode • sqlite3 fallback available

Prototype stage

Gene detail

Read-only gene view with summary, GO, UniProt, NCBI, and representative sequence links.

GRCh38.p14 + GENCODE Release 50local-onlyPDO SQLite primaryread-only query modesqlite3 fallback available

Gene detail

PMS1

PMS1

protein_coding 2 189,784,062 - 189,878,385 PDO SQLite primary read-only query mode
Overview Summary GO UniProt Representative Transcripts FASTA ClinVar disease associations

Overview

Gene ID
ENSG00000064933
Gene type
protein_coding
Chromosome
2
Coordinates
189,784,062 - 189,878,385
Strand
+
Status
not available
NCBI summary UniProt GO Transcript FASTA Protein FASTA

Aliases

5378 CCDS2302 CCDS46473 CCDS46474 CCDS74615 CCDS82543 CCDS82544 ENST00000441310.7 MLH2 NM_000534 NM_000534.5 P54277 PMS1 postmeiotic segregation increased 1 (S. cerevisiae) PMSL1 postmeiotic segregation increased (S. cerevisiae) 1

Summary

GENCODE gene_type=protein_coding; HGNC symbol=PMS1; HGNC name=PMS1 homolog 1; alias_count=15; RefSeq=NM_000534; UniProt=P54277; MANE Select=ENST00000441310.7,NM_000534.5

Source: GENCODE + HGNC complete set

5378 • protein-coding

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]

NCBI Gene

UniProt

P54277 • reviewed

Probably involved in the repair of mismatches in DNA

PMS1 protein homolog 1 · Nucleus

P54277 • reviewed

Probably involved in the repair of mismatches in DNA

PMS1 protein homolog 1 · Nucleus

P54277 • reviewed

Probably involved in the repair of mismatches in DNA

PMS1 protein homolog 1 · Nucleus

P54277 • reviewed

Probably involved in the repair of mismatches in DNA

PMS1 protein homolog 1 · Nucleus

GO annotations

Biological process
  • GO:0006298 mismatch repair (IEA)
  • GO:0006298 mismatch repair (TAS)
  • GO:0006298 mismatch repair (IBA)
  • GO:0009410 response to xenobiotic stimulus (IEA)
Cellular component
  • GO:0032390 MutLbeta complex (IPI)
  • GO:0032300 mismatch repair complex (IEA)
  • GO:0032300 mismatch repair complex (IBA)
  • GO:0005634 nucleus (IEA)
  • GO:0005634 nucleus (IEA)
  • GO:0005634 nucleus (IDA)
  • GO:0005634 nucleus (TAS)
  • GO:0005634 nucleus (IBA)
Molecular function
  • GO:0005524 ATP binding (IEA)
  • GO:0016887 ATP hydrolysis activity (IEA)
  • GO:0016887 ATP hydrolysis activity (IBA)
  • GO:0140664 ATP-dependent DNA damage sensor activity (IEA)
  • GO:0003677 DNA binding (TAS)
  • GO:0019899 enzyme binding (IPI)
  • GO:0030983 mismatched DNA binding (IEA)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)

+ 3 more

Representative

Representative transcript
ENST00000374826
Representative protein
ENSP00000363959.4
Representative type
CCDS
Candidate count
27

GENCODE Release 50 annotation GTF · transcript.tag=CCDS; transcript_support_level=1

Transcript FASTA Protein FASTA

Transcripts

Transcript ID Name Type Status Protein Location
ENST00001088999 PMS1-263 nonsense_mediated_decay not available ENSP00000758805.1 2:189,784,062 - 189,877,624 +
ENST00000374826 PMS1-202 protein_coding not available ENSP00000363959.4 2:189,784,085 - 189,806,846 +
ENST00000409985 PMS1-205 protein_coding not available ENSP00000386623.1 2:189,784,085 - 189,807,054 +
ENST00000418224 PMS1-206 protein_coding not available ENSP00000404492.4 2:189,784,085 - 189,877,628 +
ENST00000432292 PMS1-212 protein_coding not available ENSP00000398378.3 2:189,784,085 - 189,878,385 +
ENST00000447232 PMS1-215 protein_coding not available ENSP00000401064.2 2:189,784,085 - 189,878,385 +
ENST00000618056 PMS1-220 protein_coding not available ENSP00000480632.1 2:189,784,085 - 189,878,385 +
ENST00000624204 PMS1-221 protein_coding not available ENSP00000485312.1 2:189,784,085 - 189,878,385 +
ENST00000921100 PMS1-230 protein_coding not available ENSP00000591159.1 2:189,784,085 - 189,878,385 +
ENST00000921101 PMS1-231 protein_coding not available ENSP00000591160.1 2:189,784,085 - 189,878,385 +
ENST00000921102 PMS1-232 protein_coding not available ENSP00000591161.1 2:189,784,085 - 189,878,385 +
ENST00000921103 PMS1-233 protein_coding not available ENSP00000591162.1 2:189,784,085 - 189,878,385 +
ENST00000921104 PMS1-234 protein_coding not available ENSP00000591163.1 2:189,784,085 - 189,878,385 +
ENST00000921105 PMS1-235 protein_coding not available ENSP00000591164.1 2:189,784,085 - 189,878,385 +
ENST00000921106 PMS1-236 protein_coding not available ENSP00000591165.1 2:189,784,085 - 189,878,385 +
ENST00000921108 PMS1-238 protein_coding not available ENSP00000591167.1 2:189,784,085 - 189,878,385 +
ENST00000921109 PMS1-239 protein_coding not available ENSP00000591168.1 2:189,784,085 - 189,878,385 +
ENST00000921111 PMS1-241 protein_coding not available ENSP00000591170.1 2:189,784,085 - 189,878,385 +
ENST00000921112 PMS1-242 protein_coding not available ENSP00000591171.1 2:189,784,085 - 189,878,385 +
ENST00000921114 PMS1-244 protein_coding not available ENSP00000591173.1 2:189,784,085 - 189,878,385 +

FASTA

FASTA output is generated by backend query; the raw FASTA path is not exposed.

Open transcript export Open protein export

ClinVar disease associations

ClinVar disease associations: 0

ClinVar gene-disease tables are missing. Build the candidate database first.