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PITRM1 pitrilysin metallopeptidase 1 [ Canis lupus familiaris (dog) ]

Gene ID: 478018, updated on 17-Aug-2024

Summary

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Official Symbol
PITRM1provided by VGNC
Official Full Name
pitrilysin metallopeptidase 1provided by VGNC
Primary source
VGNC:VGNC:44588
See related
Ensembl:ENSCAFG00845003172
Gene type
protein coding
RefSeq status
MODEL
Organism
Canis lupus familiaris (sub-species: familiaris)
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis
Orthologs
human mouse all
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Genomic context

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See PITRM1 in Genome Data Viewer
Location:
chromosome: 2
Exon count:
27
Annotation release Status Assembly Chr Location
106 current ROS_Cfam_1.0 (GCF_014441545.1) 2 NC_051806.1 (32565906..32602813)
106 current Dog10K_Boxer_Tasha (GCF_000002285.5) 2 NC_006584.4 (29211779..29248682)
106 current UU_Cfam_GSD_1.0 (GCF_011100685.1) 2 NC_049223.1 (31218020..31254840)
106 current UMICH_Zoey_3.1 (GCF_005444595.1) 2 NC_049262.1 (29652684..29689513)
106 current UNSW_CanFamBas_1.0 (GCF_013276365.1) 2 NC_049743.1 (30490239..30527040)

Chromosome 2 - NC_051806.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC119869998 Neighboring gene uncharacterized LOC106560146 Neighboring gene phosphofructokinase, platelet Neighboring gene neuronatin-like

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration. Hytönen MK, et al. Hum Genet, 2021 Nov. PMID 33835239, Free PMC Article
  2. Manual GO annotation of predictive protein signatures: the InterPro approach to GO curation. Burge S, et al. Database (Oxford), 2012. PMID 22301074, Free PMC Article
  3. TreeGrafter: phylogenetic tree-based annotation of proteins with Gene Ontology terms and other annotations. Tang H, et al. Bioinformatics, 2019 Feb 1. PMID 30032202, Free PMC Article

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration.
    Title: In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration.
Submit: New GeneRIF Correction

General gene information

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Homology

Gene Ontology Provided by RefSeq

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 PubMed 
Process Evidence Code Pubs
involved_in protein processing IEA
Inferred from Electronic Annotation
more info
 PubMed 
Component Evidence Code Pubs
located_in mitochondrial matrix IEA
Inferred from Electronic Annotation
more info
 PubMed 

General protein information

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Preferred Names
presequence protease, mitochondrial
XP_038313489.1
XP_038325379.1
XP_038325380.1
XP_038386141.1
XP_038386142.1
XP_038450388.1
XP_038450389.1
XP_038514433.1
XP_038514434.1
XP_535200.2

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: Canis lupus familiaris Annotation Release 106 details...Open this link in a new tab

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

Reference ROS_Cfam_1.0

Genomic

  1. NC_051806.1 Reference ROS_Cfam_1.0

    Range
    32565906..32602813
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_038658505.1 → XP_038514433.1  presequence protease, mitochondrial isoform X1

    UniProtKB/TrEMBL
    A0A8C0JT48, A0A8I3MRV7
    Related
    ENSCAFP00845004450.1, ENSCAFT00845005609.1
    Conserved Domains (1) summary
    COG1026
    Location:45 → 1006
    Cym1; Zn-dependent peptidase, M16 (insulinase) family [Posttranslational modification, protein turnover, chaperones]

  2. XM_038658506.1 → XP_038514434.1  presequence protease, mitochondrial isoform X2

    UniProtKB/TrEMBL
    A0A8C0JT48
    Conserved Domains (1) summary
    COG1026
    Location:6 → 806
    Cym1; Zn-dependent peptidase, M16 (insulinase) family [Posttranslational modification, protein turnover, chaperones]

Alternate UMICH_Zoey_3.1

Genomic

  1. NC_049262.1 Alternate UMICH_Zoey_3.1

    Range
    29652684..29689513
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_038469451.1 → XP_038325379.1  presequence protease, mitochondrial isoform X1

  2. XM_038469452.1 → XP_038325380.1  presequence protease, mitochondrial isoform X2

Alternate UNSW_CanFamBas_1.0

Genomic

  1. NC_049743.1 Alternate UNSW_CanFamBas_1.0

    Range
    30490239..30527040
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_038594460.1 → XP_038450388.1  presequence protease, mitochondrial isoform X1

  2. XM_038594461.1 → XP_038450389.1  presequence protease, mitochondrial isoform X2

    Conserved Domains (1) summary
    COG1026
    Location:6 → 806
    Cym1; Zn-dependent peptidase, M16 (insulinase) family [Posttranslational modification, protein turnover, chaperones]

Alternate UU_Cfam_GSD_1.0

Genomic

  1. NC_049223.1 Alternate UU_Cfam_GSD_1.0

    Range
    31218020..31254840
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_038530213.1 → XP_038386141.1  presequence protease, mitochondrial isoform X1

    UniProtKB/TrEMBL
    A0A8C0JT48, A0A8C0PR27

  2. XM_038530214.1 → XP_038386142.1  presequence protease, mitochondrial isoform X2

    UniProtKB/TrEMBL
    A0A8C0JT48

Alternate Dog10K_Boxer_Tasha Primary Assembly

Genomic

  1. NC_006584.4 Alternate Dog10K_Boxer_Tasha Primary Assembly

    Range
    29211779..29248682
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_535200.7 → XP_535200.2  presequence protease, mitochondrial isoform X1

    UniProtKB/TrEMBL
    A0A8C0JT48, A0A8P0N868
    Conserved Domains (4) summary
    COG1026
    Location:45 → 1006
    Cym1; Zn-dependent peptidase, M16 (insulinase) family [Posttranslational modification, protein turnover, chaperones]
    pfam00675
    Location:94 → 175
    Peptidase_M16; Insulinase (Peptidase family M16)
    pfam05193
    Location:242 → 430
    Peptidase_M16_C; Peptidase M16 inactive domain
    pfam08367
    Location:504 → 747
    M16C_assoc; Peptidase M16C associated

  2. XM_038457561.1 → XP_038313489.1  presequence protease, mitochondrial isoform X2

    UniProtKB/TrEMBL
    A0A8C0JT48
    Conserved Domains (1) summary
    COG1026
    Location:6 → 806
    Cym1; Zn-dependent peptidase, M16 (insulinase) family [Posttranslational modification, protein turnover, chaperones]
Nucleotide Protein
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