Pjvk (pejvakin) - Rat Genome Database

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Gene: Pjvk (pejvakin) Mus musculus
Analyze
Symbol: Pjvk
Name: pejvakin
RGD ID: 1620430
MGI Page MGI
Description: Involved in several processes, including pexophagy; programmed cell death in response to reactive oxygen species; and regulation of peroxisome organization. Acts upstream of or within detection of mechanical stimulus involved in sensory perception of sound and stereocilium maintenance. Located in several cellular components, including cytoskeleton; peroxisomal membrane; and stereocilium base. Used to study autosomal recessive nonsyndromic deafness 59. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 59. Orthologous to human PJVK (pejvakin).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: autosomal recessive deafness type 59 protein homolog; deafness, autosomal recessive 59; deafness, autosomal recessive 59 (human); Dfnb5; Dfnb59; Gm1001; pej
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39276,480,617 - 76,488,898 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl276,478,820 - 76,488,900 (+)EnsemblGRCm39 Ensembl
GRCm38276,650,273 - 76,658,554 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl276,648,476 - 76,658,556 (+)EnsemblGRCm38mm10GRCm38
MGSCv37276,488,330 - 76,496,613 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36276,449,338 - 76,459,395 (+)NCBIMGSCv36mm8
Celera278,311,949 - 78,320,233 (+)NCBICelera
Cytogenetic Map2C3NCBI
cM Map245.08NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. Mouse MP Annotation Import Pipeline RGD automated import pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:14610273   PMID:16804542   PMID:17329413   PMID:21267068   PMID:21873635   PMID:23217710   PMID:26544938   PMID:28089576   PMID:28209736   PMID:30936319   PMID:32917362   PMID:36278489  
PMID:38355793  


Genomics

Comparative Map Data
Pjvk
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39276,480,617 - 76,488,898 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl276,478,820 - 76,488,900 (+)EnsemblGRCm39 Ensembl
GRCm38276,650,273 - 76,658,554 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl276,648,476 - 76,658,556 (+)EnsemblGRCm38mm10GRCm38
MGSCv37276,488,330 - 76,496,613 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36276,449,338 - 76,459,395 (+)NCBIMGSCv36mm8
Celera278,311,949 - 78,320,233 (+)NCBICelera
Cytogenetic Map2C3NCBI
cM Map245.08NCBI
PJVK
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382178,451,378 - 178,462,102 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2178,451,346 - 178,462,102 (+)EnsemblGRCh38hg38GRCh38
GRCh372179,316,105 - 179,326,829 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362179,026,351 - 179,034,310 (+)NCBINCBI36Build 36hg18NCBI36
Celera2172,919,049 - 172,928,999 (+)NCBICelera
Cytogenetic Map2q31.2NCBI
HuRef2171,186,847 - 171,196,797 (+)NCBIHuRef
CHM1_12179,322,170 - 179,332,144 (+)NCBICHM1_1
T2T-CHM13v2.02178,934,171 - 178,944,894 (+)NCBIT2T-CHM13v2.0
Pjvk
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8382,002,106 - 82,012,273 (+)NCBIGRCr8
mRatBN7.2361,594,644 - 61,605,051 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl361,596,641 - 61,605,045 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.0363,508,386 - 63,518,163 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl363,510,293 - 63,518,147 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0370,083,296 - 70,091,353 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4359,348,728 - 59,356,706 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera361,080,528 - 61,090,733 (+)NCBICelera
Cytogenetic Map3q24NCBI
Pjvk
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540318,386,705 - 18,393,771 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540318,386,705 - 18,393,771 (-)NCBIChiLan1.0ChiLan1.0
PJVK
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21381,098,713 - 81,111,146 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B81,113,687 - 81,124,634 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B65,708,635 - 65,725,766 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B183,413,375 - 183,423,503 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B183,413,265 - 183,423,224 (+)Ensemblpanpan1.1panPan2
PJVK
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13622,080,574 - 22,087,537 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3622,040,303 - 22,092,249 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3622,099,201 - 22,106,550 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03622,224,490 - 22,231,855 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3622,183,736 - 22,231,259 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13622,333,855 - 22,341,196 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03622,296,525 - 22,303,268 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03622,412,988 - 22,420,325 (+)NCBIUU_Cfam_GSD_1.0
Pjvk
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303139,115,170 - 139,124,763 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365097,670,325 - 7,677,581 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365097,670,557 - 7,677,480 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PJVK
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1584,158,639 - 84,165,906 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11584,157,864 - 84,165,763 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21593,691,740 - 93,699,282 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PJVK
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11064,004,113 - 64,013,025 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1064,005,259 - 64,014,571 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040135,561,744 - 135,613,400 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pjvk
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624844426,636 - 433,043 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624844424,903 - 432,841 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Pjvk
434 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:279
Count of miRNA genes:227
Interacting mature miRNAs:255
Transcripts:ENSMUST00000099986, ENSMUST00000144817, ENSMUST00000153471
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
13464141Hbbcq3_mhemoglobin concentration QTL 3 (mouse)25244801986448136Mouse
13824983Vclq1_mcurvilinear velocity QTL 1 (mouse)261830344136841920Mouse
1301402Ap2q_malcohol preference 2 QTL (mouse)Not determined24352061277520756Mouse
1300761Lgth1_mbody length 1 (mouse)Not determined25170327685703425Mouse
4141236Hbnr5_mHeligmosomoides bakeri nematode resistance 5 (mouse)Not determined31214567105143570Mouse
1302174Dssc2_mdextran sodium sulfate induced colitis QTL2 (mouse)Not determined224224632148700377Mouse
1301405Etohr_methanol response acute (mouse)Not determined26300595497006113Mouse
1301660Iba1_minduction of brown adipocytes 1 (mouse)Not determined267647887101648142Mouse
1558915W3q1_mweight 3 weeks QTL 1 (mouse)Not determined220897778118894840Mouse
1300875Taste1_mtaste-saccharin preference 1 (mouse)Not determined25092317584923278Mouse
1301769Orgwq2_morgan weight QTL 2 (mouse)Not determined2388712693421651Mouse
1357454Kidq1_mkidney weight QTL 1 (mouse)Not determined220897778118894840Mouse
1357577Trmq3_mT cell ratio modifier QTL 3 (mouse)Not determined260520612119355518Mouse
1558966W10q9_mweight 10 weeks QTL 9 (mouse)Not determined220897778118894840Mouse
4141854T2dm2sa_mtype 2 diabetes mellitus 2 in SMXA RI mice (mouse)Not determined229307947148374934Mouse
1300662Etohila_methanol induced locomotor activity (mouse)Not determined26300595497006113Mouse
1300788Cia2_mcollagen induced arthritis QTL 2 (mouse)Not determined24352061277520756Mouse
10053681Lith24_mlithogenic gene 24 (mouse)Not determined26300595497006113Mouse
1301048Actre2_mactivity response to ethanol 2 (mouse)Not determined26300595497006113Mouse
1300671Cia4_mcollagen induced arthritis QTL 4 (mouse)Not determined24352061277520756Mouse
1357881Estoq1_membryo survival total QTL 1 (mouse)Not determined220897778118894840Mouse
5491197Mobq5_mmultigenic obesity QTL 5 (mouse)Not determined265269746162518926Mouse
1301948Elsgp3_melevated serum gp70 3 (mouse)Not determined268724269102724407Mouse
1301411Pitm1_mprion incubation time 1 (mouse)Not determined24352061277520756Mouse
4141069Pbwg1.5_mpostnatal body weight growth 1.5 (mouse)Not determined4352061277520756Mouse
1558820Moo1_mmodifier of Odc1 (mouse)Not determined174826974682269934Mouse
4142088Parms1_mpatched associated RMS 1 (mouse)Not determined74524117114123532Mouse
12738429Lfibq18_mliver fibrosis QTL 18 (mouse)25791999191919991Mouse
39128209Lwq14_mliver weight QTL 14 (mouse)220897778118894840Mouse
1558738W6q1_mweight 6 weeks QTL 1 (mouse)Not determined220897778118894840Mouse
11528549Sluc31_msusceptibility to lung cancer 31 (mouse)274524117129213005Mouse
1300568Hdl1_mhigh density lipoprotein (HDL) level 1 (mouse)Not determined24826974682269934Mouse
1301703Bomd3_mbone mineral density 3 (mouse)Not determined26300595497006113Mouse
1301747Eae21_mexperimental allergic encephalomyelitis 21 (mouse)Not determined24826974682269934Mouse
1301235Alcw4_malcohol withdrawal 4 (mouse)Not determined24826974682269934Mouse
4141406Alpq2_malcohol preference QTL 2 (mouse)Not determined25752411791524288Mouse
10755526Lymph1_mlymphocyte differential 1 (mouse)25081931484819314Mouse
13463471Hctq6_mhematocrit QTL 6 (mouse)25244801986448136Mouse
1301873Hsl1_mhyperoxia susceptibility locus 1 (mouse)Not determined26357015497570301Mouse
1558899Egq1_mearly growth QTL 1 (mouse)Not determined220897778118894840Mouse
1357681Hrtq1_mheart weight QTL 1 (mouse)Not determined220897778118894840Mouse
1301109Dntcs2_mdental caries susceptibility 2 (mouse)Not determined240885493114910165Mouse
1357436Splq1_mspleen weight QTL 1 (mouse)Not determined220897778118894840Mouse
10755532Lymph5_mlymphocyte differential 5 (mouse)24419901778199017Mouse
1301882Etohc2_methanol consumption 2 (mouse)Not determined268724269102724407Mouse
11532740Pbwg1.10_mpostnatal body weight growth 1.10 (mouse)24813241282132495Mouse
1301374Cplaq7_mcircadian period of locomotor activity 7 (mouse)Not determined276421483110421651Mouse
1300577Capsq1_mcapsaicin sensitivity related QTL 1 (mouse)Not determined22760206084013384Mouse
1301344Lith1_mlithogenic gene 1 (mouse)Not determined245347635145312647Mouse
13463482Mchq17_mmean corpuscular hemoglobin QTL 17 (mouse)267647887101648142Mouse
10044002Hdl7_mHDL level 7 (mouse)Not determined26300595497006113Mouse


Expression

RNA-SEQ Expression


Sequence


Ensembl Acc Id: ENSMUST00000099986   ⟹   ENSMUSP00000097566
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl276,480,617 - 76,488,900 (+)Ensembl
GRCm38.p6 Ensembl276,650,273 - 76,658,556 (+)Ensembl
Ensembl Acc Id: ENSMUST00000144817   ⟹   ENSMUSP00000119264
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl276,478,843 - 76,486,173 (+)Ensembl
GRCm38.p6 Ensembl276,648,499 - 76,655,829 (+)Ensembl
Ensembl Acc Id: ENSMUST00000153471   ⟹   ENSMUSP00000114409
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl276,478,820 - 76,481,769 (+)Ensembl
GRCm38.p6 Ensembl276,648,476 - 76,651,425 (+)Ensembl
RefSeq Acc Id: NM_001080711   ⟹   NP_001074180
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39276,480,617 - 76,488,898 (+)NCBI
GRCm38276,650,273 - 76,658,554 (+)NCBI
MGSCv37276,488,330 - 76,496,613 (+)RGD
Celera278,311,949 - 78,320,231 (+)NCBI
cM Map2 ENTREZGENE
Sequence:
RefSeq Acc Id: XM_017319070   ⟹   XP_017174559
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39276,480,929 - 76,488,896 (+)NCBI
GRCm38276,650,585 - 76,658,552 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001074180 (Get FASTA)   NCBI Sequence Viewer  
  XP_017174559 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein ABC94895 (Get FASTA)   NCBI Sequence Viewer  
  EDL27214 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSMUSP00000097566
  ENSMUSP00000097566.3
  ENSMUSP00000114409.2
  ENSMUSP00000119264.2
GenBank Protein Q0ZLH2 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001074180   ⟸   NM_001080711
- UniProtKB: Q0ZLH2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_017174559   ⟸   XM_017319070
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSMUSP00000119264   ⟸   ENSMUST00000144817
Ensembl Acc Id: ENSMUSP00000097566   ⟸   ENSMUST00000099986
Ensembl Acc Id: ENSMUSP00000114409   ⟸   ENSMUST00000153471
Protein Domains
Gasdermin pore forming

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q0ZLH2-F1-model_v2 AlphaFold Q0ZLH2 1-352 view protein structure

Promoters
RGD ID:6832121
Promoter ID:MM_KWN:29811
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:3T3L1_Day0,   3T3L1_Day1,   3T3L1_Day2,   3T3L1_Day3,   3T3L1_Day4,   BoneMarrow_0Hour,   BoneMarrow_2Hour,   BoneMarrow_4Hour,   Brain,   ES_Cell,   Kidney,   Liver,   Lung,   MEF_B4,   MEF_B6
Transcripts:OTTMUST00000031689,   OTTMUST00000077406,   OTTMUST00000077407
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv36276,485,966 - 76,486,677 (-)MPROMDB
RGD ID:6877706
Promoter ID:EPDNEW_M2304
Type:single initiation site
Name:Pjvk_1
Description:Mus musculus pejvakin , mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38276,650,273 - 76,650,333EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:2685847 AgrOrtholog
Ensembl Genes ENSMUSG00000075267 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENSMUST00000099986 ENTREZGENE
  ENSMUST00000099986.3 UniProtKB/Swiss-Prot
  ENSMUST00000144817.8 UniProtKB/TrEMBL
  ENSMUST00000153471.2 UniProtKB/TrEMBL
InterPro Gasdermin_pore UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GSDME UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:381375 UniProtKB/Swiss-Prot
MGD MGI:2685847 ENTREZGENE
NCBI Gene 381375 ENTREZGENE
PANTHER GASDERMIN-E UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NONSYNDROMIC HEARING IMPAIRMENT PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Gasdermin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Pjvk PhenoGen
UniProt B0R0L8_MOUSE UniProtKB/TrEMBL
  B0R0L9_MOUSE UniProtKB/TrEMBL
  PJVK_MOUSE UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-08-22 Pjvk  pejvakin  Dfnb59  deafness, autosomal recessive 59 (human)  Symbol and/or name change 5135510 APPROVED