PEX14 peroxisomal biogenesis factor 14 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PEX14provided by HGNC
Official Full Name: peroxisomal biogenesis factor 14provided by HGNC
Primary source: HGNC:HGNC:8856
See related: Ensembl:ENSG00000142655 MIM:601791; AllianceGenome:HGNC:8856
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: NAPP2; PBD13A; Pex14p; dJ734G22.2
Summary: This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxisomal targeting signal. The protein also functions as a transcriptional corepressor and interacts with a histone deacetylase. A mutation in this gene results in one form of Zellweger syndrome. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in prostate (RPKM 3.2), urinary bladder (RPKM 3.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.22

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (10474950..10630758)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (10018554..10174355)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (10535007..10690815)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene.
Title: Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene.
Competitive Microtubule Binding of PEX14 Coordinates Peroxisomal Protein Import and Motility.
Title: Competitive Microtubule Binding of PEX14 Coordinates Peroxisomal Protein Import and Motility.
Mitotic phosphorylation of Pex14p regulates peroxisomal import machinery.
Title: Mitotic phosphorylation of Pex14p regulates peroxisomal import machinery.
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.
data reveal subpopulations of peroxisomes showing only weak colocalization between PEX14 and PEX5 or PEX11 but at the same time a clear compartmentalized organization. This compartmentalization, which was less evident in cases of strong colocalization, indicates dynamic protein reorganization linked to changes occurring in the peroxisomes.
Title: Super-resolution Microscopy Reveals Compartmentalization of Peroxisomal Membrane Proteins.
PEX14 is the 13th PEX gene responsible for peroxisome biogenesis disorders. Thus far, only two patients with PEX14 deficiency have been reported.
Title: First Japanese case of Zellweger syndrome with a mutation in PEX14.
The novel Pex14-binding site may represent the initial tethering site of Pex5 from which the cargo-loaded receptor is further processed in a sequential manner.
Title: A novel Pex14 protein-interacting site of human Pex5 is critical for matrix protein import into peroxisomes.
interaction of PEX5 with catalase and PEX14
Title: PEX5 protein binds monomeric catalase blocking its tetramerization and releases it upon binding the N-terminal domain of PEX14.
PEX14 is a multi-tasking protein that not only facilitates peroxisomal protein import but is also required for peroxisome motility by serving as membrane anchor for microtubules.
Title: PEX14 is required for microtubule-based peroxisome motility in human cells.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.

Submit: New GeneRIF Correction See all GeneRIFs (18)

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 13A (Zellweger) MedGen: C3554004 OMIM: 614887 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association identifies ATOH7 as a major gene determining human optic disc size. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association studies identify four ER negative-specific breast cancer risk loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. 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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of peroxisomal biogenesis factor 14 (PEX14) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S244 (e-PCR)
- UniSTS:44325

PMC156606P1 (e-PCR)
- UniSTS:271408

SGC38258 (e-PCR)
- UniSTS:50262

SHGC-111497 (e-PCR)
- UniSTS:181920

SHGC-74203 (e-PCR)
- UniSTS:58828

D1S2736 (e-PCR), detects polymorphism
- UniSTS:33010

D1S244 (e-PCR)
- UniSTS:17404

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables beta-tubulin binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables microtubule binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables protein-macromolecule adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables signaling receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription corepressor 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 microtubule anchoring	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein binding	IDA Inferred from Direct Assay more info	PubMed
NOT involved_in peroxisome organization	IGI Inferred from Genetic Interaction more info	PubMed
involved_in peroxisome organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in peroxisome transport along microtubule	IDA Inferred from Direct Assay more info	PubMed
involved_in protein import into peroxisome matrix	IMP Inferred from Mutant Phenotype more info	PubMed
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, substrate release	IDA Inferred from Direct Assay more info	PubMed
involved_in protein import into peroxisome matrix, translocation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein-containing complex assembly	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in fibrillar center	IDA Inferred from Direct Assay more info
located_in membrane	HDA more info	PubMed
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	NAS Non-traceable Author Statement 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	ISS Inferred from Sequence or Structural Similarity more info
located_in peroxisomal membrane	TAS Traceable Author Statement more info
located_in peroxisome	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: peroxisomal membrane protein PEX14

Names: NF-E2 associated polypeptide 2; PTS1 receptor docking protein; peroxin-14; peroxisomal membrane anchor protein PEX14; peroxisomal membrane anchor protein Pex14p

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_008340.2 RefSeqGene

Range

5005..160813

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004565.3 → NP_004556.1 peroxisomal membrane protein PEX14

See identical proteins and their annotated locations for NP_004556.1

Status: REVIEWED

Source sequence(s)

BC006327, DA494578

Consensus CDS

CCDS30582.1

UniProtKB/Swiss-Prot

B2R7N1, B3KML6, B7Z1N2, O75381, Q8WX51

UniProtKB/TrEMBL

B7Z4Z4

Related

ENSP00000349016.4, ENST00000356607.9

Conserved Domains (1) summary

pfam04695
Location:24 → 68

Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

10474950..10630758

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047422544.1 → XP_047278500.1 peroxisomal membrane protein PEX14 isoform X5
XM_047422546.1 → XP_047278502.1 peroxisomal membrane protein PEX14 isoform X7
XM_047422545.1 → XP_047278501.1 peroxisomal membrane protein PEX14 isoform X6

UniProtKB/TrEMBL

B7Z4Z4
XM_047422543.1 → XP_047278499.1 peroxisomal membrane protein PEX14 isoform X2

UniProtKB/TrEMBL

B7Z4Z4
XM_011541580.2 → XP_011539882.1 peroxisomal membrane protein PEX14 isoform X4

See identical proteins and their annotated locations for XP_011539882.1

UniProtKB/TrEMBL

B7Z4Z4

Conserved Domains (1) summary

pfam04695
Location:24 → 57

Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region
XM_011541579.4 → XP_011539881.1 peroxisomal membrane protein PEX14 isoform X3

Conserved Domains (1) summary

pfam04695
Location:39 → 106

Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region
XM_011541577.3 → XP_011539879.1 peroxisomal membrane protein PEX14 isoform X1

UniProtKB/TrEMBL

B7Z4Z4

Conserved Domains (1) summary

pfam04695
Location:39 → 149

Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region
XM_047422542.1 → XP_047278498.1 peroxisomal membrane protein PEX14 isoform X2

UniProtKB/TrEMBL

B7Z4Z4
XM_011541578.3 → XP_011539880.1 peroxisomal membrane protein PEX14 isoform X2

See identical proteins and their annotated locations for XP_011539880.1

UniProtKB/TrEMBL

B7Z4Z4

Conserved Domains (1) summary

pfam04695
Location:9 → 116

Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

10018554..10174355

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054337019.1 → XP_054192994.1 peroxisomal membrane protein PEX14 isoform X5
XM_054337021.1 → XP_054192996.1 peroxisomal membrane protein PEX14 isoform X7
XM_054337020.1 → XP_054192995.1 peroxisomal membrane protein PEX14 isoform X6

UniProtKB/TrEMBL

B7Z4Z4
XM_054337016.1 → XP_054192991.1 peroxisomal membrane protein PEX14 isoform X2

UniProtKB/TrEMBL

B7Z4Z4
XM_054337018.1 → XP_054192993.1 peroxisomal membrane protein PEX14 isoform X4

UniProtKB/TrEMBL

B7Z4Z4
XM_054337017.1 → XP_054192992.1 peroxisomal membrane protein PEX14 isoform X3
XM_054337013.1 → XP_054192988.1 peroxisomal membrane protein PEX14 isoform X1

UniProtKB/TrEMBL

B7Z4Z4
XM_054337014.1 → XP_054192989.1 peroxisomal membrane protein PEX14 isoform X2

UniProtKB/TrEMBL

B7Z4Z4
XM_054337015.1 → XP_054192990.1 peroxisomal membrane protein PEX14 isoform X2

UniProtKB/TrEMBL

B7Z4Z4