PIGBOS1 (PIGB opposite strand 1) - Rat Genome Database

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Gene: PIGBOS1 (PIGB opposite strand 1) Homo sapiens
Analyze
Symbol: PIGBOS1
Name: PIGB opposite strand 1
RGD ID: 8662154
HGNC Page HGNC
Description: Involved in regulation of endoplasmic reticulum unfolded protein response. Is integral component of mitochondrial outer membrane; INTERACTS WITH 2-hydroxypropanoic acid; aristolochic acid; doxorubicin.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: HP06981; PIGB opposite strand protein 1; uncharacterized protein LOC101928527
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1555,317,184 - 55,319,161 (-)EnsemblGRCh38hg38GRCh38
GRCh381555,317,184 - 55,348,725 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371555,609,382 - 55,611,321 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map15q21.3NCBI
HuRef1532,435,319 - 32,437,272 (-)NCBIHuRef
CHM1_11555,727,850 - 55,729,854 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References
Additional References at PubMed
PMID:21697133   PMID:31653868  


Genomics

Comparative Map Data
PIGBOS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1555,317,184 - 55,319,161 (-)EnsemblGRCh38hg38GRCh38
GRCh381555,317,184 - 55,348,725 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371555,609,382 - 55,611,321 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map15q21.3NCBI
HuRef1532,435,319 - 32,437,272 (-)NCBIHuRef
CHM1_11555,727,850 - 55,729,854 (-)NCBICHM1_1
Pigbos1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39972,947,000 - 72,950,064 (+)NCBIGRCm39mm39
GRCm39 Ensembl972,947,000 - 72,950,061 (+)Ensembl
GRCm38973,039,718 - 73,042,782 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl973,039,718 - 73,042,779 (+)EnsemblGRCm38mm10GRCm38
MGSCv37972,887,522 - 72,890,582 (+)NCBIGRCm37mm9NCBIm37
Celera970,225,950 - 70,229,009 (+)NCBICelera
Cytogenetic Map9DNCBI
Pigbos1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2873,775,732 - 73,780,102 (+)NCBImRatBN7.2
Rnor_6.0879,715,337 - 79,719,706 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0873,370,273 - 73,373,883 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera867,975,369 - 67,979,746 (-)NCBICelera
Cytogenetic Map8q24NCBI
PIGBOS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11552,609,721 - 52,611,705 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1552,610,151 - 52,610,315 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01534,286,568 - 34,325,835 (-)NCBIMhudiblu_PPA_v0panPan3
PIGBOS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13020,716,509 - 20,718,608 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3020,680,878 - 20,683,534 (-)NCBI
ROS_Cfam_1.03020,865,474 - 20,868,145 (-)NCBI
UMICH_Zoey_3.13020,809,331 - 20,811,991 (-)NCBI
UNSW_CanFamBas_1.03020,893,388 - 20,896,057 (-)NCBI
UU_Cfam_GSD_1.03021,025,157 - 21,027,833 (-)NCBI
Pigbos1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864098,978,831 - 98,980,853 (-)NCBI
SpeTri2.0NW_00493647116,827,097 - 16,829,005 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PIGBOS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11116,519,834 - 116,522,515 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21129,056,601 - 129,060,650 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PIGBOS1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12628,115,884 - 28,120,997 (+)NCBI
Vero_WHO_p1.0NW_023666048113,147,162 - 113,155,289 (-)NCBI
Pigbos1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247316,304,962 - 6,307,303 (+)NCBI

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:208
Count of miRNA genes:193
Interacting mature miRNAs:197
Transcripts:ENST00000436697, ENST00000565225, ENST00000567948
Prediction methods:Microtar, Miranda, Rnahybrid
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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2187 1719 1413 342 1459 201 3262 1108 2077 357 1395 1520 154 1184 1916 2
Low 252 1272 313 282 492 264 1094 1089 1657 62 65 93 20 1 20 872 4 2
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000436697   ⟹   ENSP00000484893
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1555,317,184 - 55,319,123 (-)Ensembl
RefSeq Acc Id: ENST00000565225   ⟹   ENSP00000481097
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1555,317,704 - 55,319,107 (-)Ensembl
RefSeq Acc Id: ENST00000567948   ⟹   ENSP00000482636
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1555,317,322 - 55,319,161 (-)Ensembl
RefSeq Acc Id: NM_001308421   ⟹   NP_001295350
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381555,317,184 - 55,319,123 (-)NCBI
CHM1_11555,727,850 - 55,729,859 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001308422   ⟹   NP_001295351
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381555,317,184 - 55,319,123 (-)NCBI
CHM1_11555,727,850 - 55,729,859 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001308423   ⟹   NP_001295352
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381555,317,184 - 55,319,123 (-)NCBI
CHM1_11555,727,850 - 55,729,859 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024449815   ⟹   XP_024305583
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381555,317,602 - 55,348,725 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001295350 (Get FASTA)   NCBI Sequence Viewer  
  NP_001295351 (Get FASTA)   NCBI Sequence Viewer  
  NP_001295352 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305583 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A0A0B4J2F0 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001295352   ⟸   NM_001308423
- UniProtKB: A0A0B4J2F0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001295351   ⟸   NM_001308422
- UniProtKB: A0A0B4J2F0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001295350   ⟸   NM_001308421
- UniProtKB: A0A0B4J2F0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024305583   ⟸   XM_024449815
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000481097   ⟸   ENST00000565225
RefSeq Acc Id: ENSP00000482636   ⟸   ENST00000567948
RefSeq Acc Id: ENSP00000484893   ⟸   ENST00000436697


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1 copy number loss See cases [RCV000136661] Chr15:51276690..57088386 [GRCh38]
Chr15:51568887..57380584 [GRCh37]
Chr15:49356179..55167876 [NCBI36]
Chr15:15q21.2-21.3
pathogenic
GRCh38/hg38 15q21.3(chr15:54998301-55749136)x3 copy number gain See cases [RCV000139795] Chr15:54998301..55749136 [GRCh38]
Chr15:55290499..56041334 [GRCh37]
Chr15:53077791..53828626 [NCBI36]
Chr15:15q21.3
uncertain significance
GRCh38/hg38 15q21.3(chr15:55279032-55622007)x3 copy number gain See cases [RCV000052342] Chr15:55279032..55622007 [GRCh38]
Chr15:55571230..55914205 [GRCh37]
Chr15:53358522..53701497 [NCBI36]
Chr15:15q21.3
pathogenic
GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1 copy number loss See cases [RCV000051621] Chr15:50864913..59646577 [GRCh38]
Chr15:51157110..59938776 [GRCh37]
Chr15:48944402..57726068 [NCBI36]
Chr15:15q21.2-22.2
pathogenic
NM_004855.5(PIGB):c.695G>A (p.Arg232His) single nucleotide variant Developmental and epileptic encephalopathy, 80 [RCV000850265] Chr15:55333908 [GRCh38]
Chr15:55626106 [GRCh37]
Chr15:15q21.3
pathogenic
NM_004855.5(PIGB):c.212G>A (p.Arg71Gln) single nucleotide variant Developmental and epileptic encephalopathy, 80 [RCV000850262] Chr15:55320323 [GRCh38]
Chr15:55612521 [GRCh37]
Chr15:15q21.3
pathogenic
NM_004855.5(PIGB):c.856G>C (p.Val286Leu) single nucleotide variant Developmental and epileptic encephalopathy, 80 [RCV000850264] Chr15:55340621 [GRCh38]
Chr15:55632819 [GRCh37]
Chr15:15q21.3
pathogenic
NM_004855.5(PIGB):c.847-10A>G single nucleotide variant Developmental and epileptic encephalopathy, 80 [RCV000850267] Chr15:55340602 [GRCh38]
Chr15:55632800 [GRCh37]
Chr15:15q21.3
pathogenic
NM_004855.5(PIGB):c.392T>G (p.Leu131Ter) single nucleotide variant Developmental and epileptic encephalopathy, 80 [RCV001254097] Chr15:55321365 [GRCh38]
Chr15:55613563 [GRCh37]
Chr15:15q21.3
pathogenic
NM_004855.5(PIGB):c.463G>C (p.Asp155His) single nucleotide variant Developmental and epileptic encephalopathy, 80 [RCV001290130] Chr15:55327576 [GRCh38]
Chr15:55619774 [GRCh37]
Chr15:15q21.3
likely pathogenic
NM_004855.5(PIGB):c.795-1G>C single nucleotide variant Developmental and epileptic encephalopathy, 80 [RCV001420565] Chr15:55339266 [GRCh38]
Chr15:55631464 [GRCh37]
Chr15:15q21.3
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:50696 AgrOrtholog
COSMIC PIGBOS1 COSMIC
Ensembl Genes ENSG00000225973 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000481097 UniProtKB/TrEMBL
  ENSP00000482636 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000484893 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000436697 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000565225 UniProtKB/TrEMBL
  ENST00000567948 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000225973 GTEx
HGNC ID HGNC:50696 ENTREZGENE
Human Proteome Map PIGBOS1 Human Proteome Map
KEGG Report hsa:101928527 UniProtKB/Swiss-Prot
NCBI Gene PIGBOS1 ENTREZGENE
OMIM 618809 OMIM
PharmGKB PA166181594 PharmGKB
UniProt A0A087WXK0_HUMAN UniProtKB/TrEMBL
  A0A0B4J2F0 ENTREZGENE, UniProtKB/Swiss-Prot