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

    Gene ID: 9409, updated on 12-Sep-2021

    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
    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
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    Genomic context

    See PEX16 in Genome Data Viewer
    Location:
    11p11.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (45909663..45917877, complement)
    105.20201022 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 mitogen-activated protein kinase 8 interacting protein 1 Neighboring gene Sharpr-MPRA regulatory region 10000 Neighboring gene chromosome 11 open reading frame 94 Neighboring gene LARGE xylosyl- and glucuronyltransferase 2 Neighboring gene PHD finger protein 21A Neighboring gene Sharpr-MPRA regulatory region 8215

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
    GeneReviews: Not available
    Peroxisome biogenesis disorder 8A
    MedGen: C3553959 OMIM: 614876 GeneReviews: Not available
    Compare labs
    Peroxisome biogenesis disorder 8B
    MedGen: C3553960 OMIM: 614877 GeneReviews: Not available
    Compare labs
    Peroxisome biogenesis disorders, Zellweger syndrome spectrum
    MedGen: C1832200 GeneReviews: Zellweger Spectrum Disorder
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein C-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    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_008460.1 RefSeqGene

      Range
      5001..13455
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004813.4NP_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
      Related
      ENSP00000368024.5, ENST00000378750.10
      Conserved Domains (1) summary
      pfam08610
      Location:10329
      Pex16; Peroxisomal membrane protein (Pex16)
    2. NM_057174.3NP_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:10317
      Pex16; Peroxisomal membrane protein (Pex16)

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      45909663..45917877 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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