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PIGBOS1 PIGB opposite strand 1 [ Homo sapiens (human) ]

Gene ID: 101928527, updated on 10-Dec-2024

Summary

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Official Symbol
PIGBOS1provided by HGNC
Official Full Name
PIGB opposite strand 1provided by HGNC
Primary source
HGNC:HGNC:50696
See related
Ensembl:ENSG00000225973 MIM:618809; AllianceGenome:HGNC:50696
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HP06981
Summary
Involved in regulation of endoplasmic reticulum unfolded protein response. Located in mitochondrial outer membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression
Ubiquitous expression in fat (RPKM 5.3), thyroid (RPKM 5.2) and 25 other tissues See more
Orthologs
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Genomic context

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See PIGBOS1 in Genome Data Viewer
Location:
15q21.3
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (55317184..55319123, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (53120373..53122312, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (55609382..55611321, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:55488259-55489150 Neighboring gene ribosomal L24 domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9439 Neighboring gene RAB27A, member RAS oncogene family Neighboring gene Sharpr-MPRA regulatory region 6285 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6453 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9441 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9443 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9442 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9444 Neighboring gene NANOG hESC enhancer GRCh37_chr15:55644998-55645641 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class B Neighboring gene DNAAF4-CCPG1 readthrough (NMD candidate) Neighboring gene cell cycle progression 1 Neighboring gene microRNA 628

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. Regulation of the ER stress response by a mitochondrial microprotein. Chu Q, et al. Nat Commun, 2019 Oct 25. PMID 31653868, Free PMC Article
  2. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. Oshikawa M, et al. Invest Ophthalmol Vis Sci, 2011 Aug 22. PMID 21697133
  3. Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context. Morgenstern M, et al. Cell Metab, 2021 Dec 7. PMID 34800366, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in regulation of endoplasmic reticulum unfolded protein response IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in response to unfolded protein IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion HTP PubMed 

General protein information

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Preferred Names
protein PIGBOS1
Names
PIGB opposite strand protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001308421.2 → NP_001295350.1  protein PIGBOS1

    See identical proteins and their annotated locations for NP_001295350.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, and 3 encode the same protein. This protein is conserved in mammals but has not been functionally-validated.
    Source sequence(s)
    AB593170, BQ434443, CA420894, HY126324
    Consensus CDS
    CCDS81884.1
    UniProtKB/Swiss-Prot
    A0A0B4J2F0
    Related
    ENSP00000484893.1, ENST00000436697.3

  2. NM_001308422.2 → NP_001295351.1  protein PIGBOS1

    See identical proteins and their annotated locations for NP_001295351.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR. Variants 1, 2, and 3 encode the same protein. This protein is conserved in mammals but has not been functionally-validated.
    Source sequence(s)
    AB593170, BQ434443, CA420894
    Consensus CDS
    CCDS81884.1
    UniProtKB/Swiss-Prot
    A0A0B4J2F0
    Related
    ENSP00000482636.1, ENST00000567948.1

  3. NM_001308423.2 → NP_001295352.1  protein PIGBOS1

    See identical proteins and their annotated locations for NP_001295352.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR. Variants 1, 2, and 3 encode the same protein. This protein is conserved in mammals but has not been functionally-validated.
    Source sequence(s)
    AB593170, BQ434443, CA420894
    Consensus CDS
    CCDS81884.1
    UniProtKB/Swiss-Prot
    A0A0B4J2F0

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    55317184..55319123 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047432079.1 → XP_047288035.1  protein PIGBOS1 isoform X1

    UniProtKB/Swiss-Prot
    A0A0B4J2F0

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    53120373..53122312 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A0A0B4J2F0.1 GenPept UniProtKB/Swiss-Prot:A0A0B4J2F0

Gene LinkOut

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Molecular Biology Databases
Research Materials