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

Gene ID: 9409, updated on 23-Nov-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
109.20211119 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)

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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.

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 109.20211119

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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