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

    Gene ID: 101928527, updated on 2-Nov-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, Nov 2024]
    Expression
    Ubiquitous expression in fat (RPKM 5.3), thyroid (RPKM 5.2) and 25 other tissues See more
    Orthologs
    mouse all
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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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 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)

    Genotypes

    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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    Research Materials