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    PEX16 peroxisomal biogenesis factor 16 [ Homo sapiens (human) ]

    Gene ID: 9409, updated on 10-Dec-2024

    Summary

    Official Symbol
    PEX16provided by HGNC
    Official Full Name
    peroxisomal biogenesis factor 16provided by HGNC
    Primary source
    HGNC:HGNC:8857
    See related
    Ensembl:ENSG00000121680 MIM:603360; AllianceGenome:HGNC:8857
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PBD8A; PBD8B
    Summary
    The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 7.9), spleen (RPKM 6.6) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PEX16 in Genome Data Viewer
    Location:
    11p11.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (45909663..45918822, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (46065593..46074744, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (45931214..45939428, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902668 Neighboring gene Sharpr-MPRA regulatory region 31 Neighboring gene mitogen-activated protein kinase 8 interacting protein 1 Neighboring gene Sharpr-MPRA regulatory region 10000 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:45927125-45927626 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:45927627-45928126 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:45929145-45930090 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:45938484-45939236 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3292 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4673 Neighboring gene Frey regulator of sperm-oocyte fusion 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4674 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:45956286-45957284 Neighboring gene LARGE xylosyl- and glucuronyltransferase 2 Neighboring gene PHD finger protein 21A Neighboring gene ReSE screen-validated silencer GRCh37_chr11:45975728-45975893 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:45986871-45987068 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:46003193-46004090 Neighboring gene Sharpr-MPRA regulatory region 8215 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:46015337-46015518 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:46015959-46016504 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:46022272-46022894 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:46033641-46034224 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:46141064-46141221 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3293 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3294

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (40 hits/1269 screens)

    Associated conditions

    EBI GWAS Catalog

    Description
    Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cytosol  
    located_in endoplasmic reticulum PubMed 
    located_in endoplasmic reticulum membrane PubMed 
    located_in membrane PubMed 
    located_in peroxisomal membrane PubMed 
    is_active_in peroxisomal membrane  
    located_in peroxisomal membrane PubMed 
    located_in peroxisomal membrane PubMed 
    located_in peroxisomal membrane  
    located_in peroxisome PubMed 

    General protein information

    Preferred Names
    peroxisomal biogenesis factor 16
    Names
    peroxin 16
    peroxisomal membrane protein PEX16
    peroxisome biogenesis factor 16

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_008460.2 RefSeqGene

      Range
      5945..14159
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004813.4 → NP_004804.2  peroxisomal biogenesis factor 16 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) uses an alternate terminal exon. The encoded isoform (1) is shorter than isoform 2 and has a unique C-terminus.
      Source sequence(s)
      AB016531, AC068385, AF118240, BC000467, BM746616
      Consensus CDS
      CCDS31472.1
      UniProtKB/Swiss-Prot
      Q9BWB9, Q9Y5Y5
      Related
      ENSP00000368024.5, ENST00000378750.10
      Conserved Domains (1) summary
      pfam08610
      Location:10 → 329
      Pex16; Peroxisomal membrane protein (Pex16)
    2. NM_057174.3 → NP_476515.2  peroxisomal biogenesis factor 16 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate terminal exon. The resulting protein (isoform 2) is longer and has a unique C-terminus compared to isoform 1.
      Source sequence(s)
      AC068385
      Consensus CDS
      CCDS7917.1
      Related
      ENSP00000241041.3, ENST00000241041.7
      Conserved Domains (1) summary
      pfam08610
      Location:10 → 317
      Pex16; Peroxisomal membrane protein (Pex16)

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      45909663..45918822 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047427888.1 → XP_047283844.1  peroxisomal biogenesis factor 16 isoform X2

      UniProtKB/TrEMBL
      E9PP98
      Related
      ENSP00000434654.1, ENST00000532681.5
    2. XM_047427886.1 → XP_047283842.1  peroxisomal biogenesis factor 16 isoform X1

    3. XM_047427887.1 → XP_047283843.1  peroxisomal biogenesis factor 16 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      46065593..46074744 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370542.1 → XP_054226517.1  peroxisomal biogenesis factor 16 isoform X2

    2. XM_054370541.1 → XP_054226516.1  peroxisomal biogenesis factor 16 isoform X1

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