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

Gene ID: 5194, updated on 12-Oct-2019

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
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

Genomic context

See PEX13 in Genome Data Viewer
Location:
2p15
Exon count:
4
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (61017720..61051990)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (61244812..61279125)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein S12 pseudogene 3 Neighboring gene pseudouridine synthase 10 Neighboring gene RNA, 5S ribosomal pseudogene 95 Neighboring gene KIAA1841 Neighboring gene uncharacterized LOC105374759 Neighboring gene uncharacterized LOC339803

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
Peroxisome biogenesis disorder 11A
MedGen: C3554000 OMIM: 614883 GeneReviews: Not available
Compare labs
Peroxisome biogenesis disorder 11B
MedGen: C3554001 OMIM: 614885 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Peroxisome, organism-specific biosystem (from KEGG)
    Peroxisome, organism-specific biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...
  • Peroxisome, conserved biosystem (from KEGG)
    Peroxisome, conserved biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cerebral cortex cell migration ISS
Inferred from Sequence or Structural Similarity
more info
 
fatty acid alpha-oxidation ISS
Inferred from Sequence or Structural Similarity
more info
 
locomotory behavior ISS
Inferred from Sequence or Structural Similarity
more info
 
microtubule-based peroxisome localization ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron migration ISS
Inferred from Sequence or Structural Similarity
more info
 
protein import into peroxisome matrix, docking IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein import into peroxisome matrix, docking IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein import into peroxisome matrix, docking TAS
Traceable Author Statement
more info
PubMed 
protein targeting to peroxisome TAS
Traceable Author Statement
more info
 
protein ubiquitination TAS
Traceable Author Statement
more info
 
suckling behavior ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
integral component of peroxisomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
membrane HDA PubMed 
peroxisomal importomer complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peroxisomal membrane HDA PubMed 
peroxisomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peroxisomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
peroxisomal membrane TAS
Traceable Author Statement
more info
 
peroxisome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    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: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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