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
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:: 14

Annotation release	Status	Assembly	Chr	Location
109.20210226	current	GRCh38.p13 (GCF_000001405.39)	1	NC_000001.11 (10474946..10630758)
105.20201022	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?

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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
analysis of the human Pex5.Pex14.PTS1 protein complex structure obtained by small angle X-ray scattering
Title: Solution structure of human Pex5.Pex14.PTS1 protein complexes obtained by small angle X-ray scattering.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. GeneReviews: Not available
A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer. GeneReviews: Not available
Genome-wide association identifies ATOH7 as a major gene determining human optic disc size. GeneReviews: Not available
Genome-wide association studies identify four ER negative-specific breast cancer risk loci. GeneReviews: Not available
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. GeneReviews: Not available
Peroxisome biogenesis disorder 13A MedGen: C3554004 OMIM: 614887 GeneReviews: Not available	Compare labs

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

Homology

Homologs of the PEX14 gene: The PEX14 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 351 organisms have orthologs with human gene PEX14
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
beta-tubulin binding	IPI Inferred from Physical Interaction more info	PubMed
identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
microtubule binding	IDA Inferred from Direct Assay more info	PubMed
protein N-terminus binding	IPI Inferred from Physical Interaction more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
signaling receptor binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed
transcription corepressor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
microtubule anchoring	IDA Inferred from Direct Assay more info	PubMed
negative regulation of DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
negative regulation of protein binding	IDA Inferred from Direct Assay more info	PubMed
negative regulation of transcription, DNA-templated	IDA Inferred from Direct Assay more info	PubMed
NOT peroxisome organization	IGI Inferred from Genetic Interaction more info	PubMed
peroxisome organization	ISS Inferred from Sequence or Structural Similarity more info
peroxisome transport along microtubule	IDA Inferred from Direct Assay more info	PubMed
protein import into peroxisome matrix	IMP Inferred from Mutant Phenotype more info	PubMed
protein import into peroxisome matrix, docking	IBA Inferred from Biological aspect of Ancestor more info	PubMed
protein import into peroxisome matrix, substrate release	IDA Inferred from Direct Assay more info	PubMed
protein import into peroxisome matrix, translocation	IDA Inferred from Direct Assay more info	PubMed
protein targeting to peroxisome	TAS Traceable Author Statement more info
protein ubiquitination	TAS Traceable Author Statement more info
protein-containing complex assembly	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
fibrillar center	IDA Inferred from Direct Assay more info
integral component of membrane	ISS Inferred from Sequence or Structural Similarity more info
membrane	HDA more info	PubMed
nucleus	NAS Non-traceable Author Statement more info	PubMed
peroxisomal importomer complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
peroxisomal membrane	HDA more info	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	ISS Inferred from Sequence or Structural Similarity more info
peroxisomal membrane	TAS Traceable Author Statement more info
peroxisome	IDA Inferred from Direct Assay more info	PubMed
protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
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

O75381

Related

ENSP00000349016.4, ENST00000356607.9

Conserved Domains (1) summary

pfam04695
Location:25 → 135

Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p13 Primary Assembly

Range

10474946..10630758

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

See identical proteins and their annotated locations for XP_011539882.1

UniProtKB/Swiss-Prot

O75381

Conserved Domains (1) summary

pfam04695
Location:25 → 92

Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region
XM_011541579.3 → 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_011541577.2 → XP_011539879.1 peroxisomal membrane protein PEX14 isoform X1

Conserved Domains (1) summary

pfam04695
Location:39 → 149

Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region
XM_024447651.1 → XP_024303419.1 peroxisomal membrane protein PEX14 isoform X5

Conserved Domains (2) summary

TIGR04211
Location:78 → 156

SH3_and_anchor; SH3 domain protein

pfam04695
Location:4 → 71

Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region
XM_011541578.2 → XP_011539880.1 peroxisomal membrane protein PEX14 isoform X2

See identical proteins and their annotated locations for XP_011539880.1

Conserved Domains (1) summary

pfam04695
Location:9 → 116

Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region
XM_005263470.5 → XP_005263527.1 peroxisomal membrane protein PEX14 isoform X5

See identical proteins and their annotated locations for XP_005263527.1

Conserved Domains (2) summary

TIGR04211
Location:78 → 156

SH3_and_anchor; SH3 domain protein

pfam04695
Location:4 → 71

Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region