| Type | Description |
|---|---|
| Definition | pitrilysin metallopeptidase 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-04-04 11:35:00 | Single nucleotide polymorphism in PITRM1 gene is associated with smoking in African americans. | 29216386 |
| 2019-10-19 11:38:00 | PITRM1 T931M mutation results in childhood-onset recessive cerebellar pathology. Severity of PITRM1-related disease may be affected by the degree of impairment in cleavage of mitochondrial long peptides. Disruption and deletion of X linked regulatory segments may also contribute to severity. | 29764912 |
| 2019-01-19 11:42:00 | Mutational disruption of electrostatic interactions in proximity of Pitrm1 arginine 183 residue contributes to the loss of enzyme activity.The arginine-to-glutamine substitution mutant Pitrm1 R183Q has been implicated in inherited amyloidogenic neuropathy. | 29383861 |
| 2018-06-20 15:25:00 | Redox control of hPreP in the mitochondrial matrix and the protective role of the conserved methionine 206 residue as an internal antioxidant. | 23041349 |
| 2016-12-17 10:06:00 | The authors identified two siblings carrying a homozygous PITRM1 missense mutation (c.548G>A, p.Arg183Gln) associated with an autosomal recessive, slowly progressive syndrome characterised by mental retardation, spinocerebellar ataxia, cognitive decline and psychosis. | 26697887 |
| Type | IDs |
|---|---|
| Synonymous | MP1, PreP |
| Gene |
UniProtKB-ID:
PREP_HUMAN
UniprotKB:
Q5JRX3
UniParc:
UPI00001F8A38,
UPI00015E00B2,
UPI0001AE6CCA
EMBL:
BC095422,
BC111987,
AK303406,
AK002061,
AL451164,
BC113369,
AB029027,
AF061243,
BC005025,
BC001150
Ensembl:
ENSG00000107959
KO:
hsa:10531
|
| Nucleutide sequences |
EMBL-CDS:
BAG64460.1,
BAA83056.2,
BAG51008.1,
AAH05025.1,
CAI40001.1,
AAH95422.1,
AAI13370.1,
AAH01150.1,
AAC67244.1,
CAI39997.1,
AAI11988.1
Ensembl_TRS:
ENST00000380989,
ENST00000224949,
ENST00000451104
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000224949,
ENSP00000401201,
ENSP00000370377
RefSeq:
NP_001334658.1,
NP_001229238.1,
NP_055704.2,
NP_001334656.1,
NP_001334654.1,
NP_001334659.1,
NP_001334655.1,
NP_001229236.1,
NP_001334657.1
|
| Others |
UniRef100:
UniRef100_Q5JRX3
UniRef90:
UniRef90_Q5JRX3
UniRef50:
UniRef50_Q5JRX3
UniGene:
Hs.528300
CCDS:
CCDS55699.1,
CCDS59208.1,
CCDS55700.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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