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PEX13 peroxisomal biogenesis factor 13 [ Homo sapiens (human) ]

Gene ID: 5194, updated on 4-Jan-2025

Summary

Official Symbol
PEX13provided by HGNC
Official Full Name
peroxisomal biogenesis factor 13provided by HGNC
Primary source
HGNC:HGNC:8855
See related
Ensembl:ENSG00000162928 MIM:601789; AllianceGenome:HGNC:8855
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
ZWS; NALD; PBD11A; PBD11B
Summary
This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly lead to peroxisomal biogenesis disorders, an example of which is Zellweger syndrome. [provided by RefSeq, Oct 2008]
Expression
Ubiquitous expression in thyroid (RPKM 8.0), liver (RPKM 7.8) and 25 other tissues See more
Orthologs
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Genomic context

See PEX13 in Genome Data Viewer
Location:
2p15
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (61017720..61051990)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (61023561..61057833)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (61244855..61279125)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein S12 pseudogene 3 Neighboring gene pseudouridine synthase 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15826 Neighboring gene RNA, 5S ribosomal pseudogene 95 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15827 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15828 Neighboring gene H3K27ac hESC enhancers GRCh37_chr2:61292895-61293396 and GRCh37_chr2:61293397-61293896 Neighboring gene SANT and BTB domain regulator of CSR Neighboring gene uncharacterized LOC105374759 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:61371323-61372244 Neighboring gene C2orf74 divergent transcript

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

Associated conditions

Description Tests
Peroxisome biogenesis disorder 11A (Zellweger)
MedGen: C3554000 OMIM: 614883 GeneReviews: Not available
Compare labs
Peroxisome biogenesis disorder 11B
MedGen: C3554001 OMIM: 614885 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
EBI GWAS Catalog

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cellular response to reactive oxygen species PubMed 
involved_in cerebral cortex cell migration  
involved_in fatty acid alpha-oxidation  
involved_in locomotory behavior  
involved_in microtubule-based peroxisome localization  
involved_in neuron migration  
involved_in protein import into peroxisome matrix, docking  
involved_in protein import into peroxisome matrix, docking PubMed 
involved_in protein import into peroxisome matrix, docking PubMed 
involved_in protein import into peroxisome matrix, docking PubMed 
involved_in protein import into peroxisome matrix, translocation PubMed 
involved_in suckling behavior  
Component Evidence Code Pubs
located_in cytosol  
located_in membrane PubMed 
part_of peroxisomal importomer complex  
located_in peroxisomal membrane PubMed 
is_active_in peroxisomal membrane  
is_active_in peroxisomal membrane PubMed 
located_in peroxisomal membrane PubMed 
located_in peroxisomal membrane  
located_in peroxisome PubMed 

General protein information

Preferred Names
peroxisome biogenesis factor 13
Names
peroxin-13
peroxisomal membrane protein PEX13

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_008665.1 RefSeqGene

    Range
    5044..39314
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002618.4NP_002609.1  peroxisome biogenesis factor 13

    See identical proteins and their annotated locations for NP_002609.1

    Status: REVIEWED

    Source sequence(s)
    AB022192, AC010733, CN288682, DB102467
    Consensus CDS
    CCDS1866.1
    UniProtKB/Swiss-Prot
    B2RCS1, Q92968
    Related
    ENSP00000295030.4, ENST00000295030.6
    Conserved Domains (2) summary
    cd11864
    Location:276333
    SH3_PEX13_eumet; Src Homology 3 domain of eumetazoan Peroxisomal biogenesis factor 13
    pfam04088
    Location:120254
    Peroxin-13_N; Peroxin 13, N-terminal region

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    61017720..61051990
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    61023561..61057833
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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