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

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: mouse all
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Genomic context

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Modulation of peroxisomal import by the PEX13 SH3 domain and a proximal FxxxF binding motif.
Title: Modulation of peroxisomal import by the PEX13 SH3 domain and a proximal FxxxF binding motif.
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
Title: Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
Hepatocyte-specific deletion of peroxisomal protein PEX13 results in disrupted iron homeostasis.
Title: Hepatocyte-specific deletion of peroxisomal protein PEX13 results in disrupted iron homeostasis.
Data suggest that soluble/cytosolic PEX5 interacts with PEX14/PEX13 complex, a model for the docking/translocation module (DTM) of the peroxisomal matrix protein translocon; PEX14/PEX13 complex appears to function in peroxisomal membrane as large cavity into which cytosolic PEX5 can enter to release its cargo. (PEX = peroxisomal biogenesis factor)
Title: The peroxisomal matrix protein translocon is a large cavity-forming protein assembly into which PEX5 protein enters to release its cargo.
our results demonstrate that PEX13 is required for selective autophagy, and suggest that dysregulation of PEX13-mediated mitophagy may contribute to ZSS pathogenesis.
Title: Peroxisomal protein PEX13 functions in selective autophagy.
Results show PEX13 interacts with itself in peroxisomes in living cells and the import of PTS1 (peroxisomal targeting signal 1) proteins is specifically disrupted when homooligomerization of PEX13 is interrupted.
Title: Functional analysis of PEX13 mutation in a Zellweger syndrome spectrum patient reveals novel homooligomerization of PEX13 and its role in human peroxisome biogenesis.
Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations.
Title: Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations.
Pex13p has a role in determining the peroxisomal localization of Pex14p
Title: Potential role for Pex19p in assembly of PTS-receptor docking complexes.
analysis of PEX13 substitution of Ile326 by threonine in a patient with peroxisomal biogenesis disorder [case report]
Title: Molecular mechanism of a temperature-sensitive phenotype in peroxisomal biogenesis disorder.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

GDB:434012 (e-PCR)
- UniSTS:157204

D11S2560 (e-PCR)
- UniSTS:37928

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

PEX13_2120 (e-PCR)
- UniSTS:280908

L18426 (e-PCR)
- UniSTS:34648

RH68509 (e-PCR)
- UniSTS:67684

D10S16 (e-PCR)
- UniSTS:155756

D1S1423 (e-PCR)
- UniSTS:149619

D11S3732 (e-PCR)
- UniSTS:152962

G44334 (e-PCR)
- UniSTS:95121

D17S610 (e-PCR)
- UniSTS:46230

SHGC-34053 (e-PCR)
- UniSTS:60868

GDB:631802 (e-PCR)
- UniSTS:158429

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to reactive oxygen species	IDA Inferred from Direct Assay more info	PubMed
involved_in cerebral cortex cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in fatty acid alpha-oxidation	ISS Inferred from Sequence or Structural Similarity more info
involved_in locomotory behavior	ISS Inferred from Sequence or Structural Similarity more info
involved_in microtubule-based peroxisome localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein import into peroxisome matrix, docking	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein import into peroxisome matrix, docking	IDA Inferred from Direct Assay more info	PubMed
involved_in protein import into peroxisome matrix, docking	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein import into peroxisome matrix, docking	TAS Traceable Author Statement more info	PubMed
involved_in protein import into peroxisome matrix, translocation	IDA Inferred from Direct Assay more info	PubMed
involved_in suckling behavior	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed
part_of peroxisomal importomer complex	IBA Inferred from Biological aspect of Ancestor more info
located_in peroxisomal membrane	HDA more info	PubMed
is_active_in peroxisomal membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in peroxisomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in peroxisomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in peroxisomal membrane	TAS Traceable Author Statement more info
located_in peroxisome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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

NG_008665.1 RefSeqGene

Range

5044..39314

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002618.4 → NP_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:276 → 333

SH3_PEX13_eumet; Src Homology 3 domain of eumetazoan Peroxisomal biogenesis factor 13

pfam04088
Location:120 → 254

Peroxin-13_N; Peroxin 13, N-terminal region