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

Gene ID: 5195, updated on 27-Dec-2018

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

Genomic context

See PEX14 in Genome Data Viewer
Location:
1p36.22
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (10474946..10630758)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (10535003..10690815)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene CENPS-CORT readthrough Neighboring gene cortistatin Neighboring gene DNA fragmentation factor subunit alpha Neighboring gene RNA, 7SL, cytoplasmic 614, pseudogene Neighboring gene castor zinc finger 1 Neighboring gene VISTA enhancer hs289 Neighboring gene VISTA enhancer hs389

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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Peroxisome biogenesis disorder 13A
MedGen: C3554004 OMIM: 614887 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

HIV-1 interactions

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

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

Clone Names

  • MGC12767

Gene Ontology Provided by GOA

Function Evidence Code Pubs
beta-tubulin 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 
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 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 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

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)

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_008340.2 RefSeqGene

    Range
    5001..160813
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004565.3NP_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, ENST00000356607.8
    Conserved Domains (1) summary
    pfam04695
    Location:25135
    Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    10474946..10630758
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541580.1XP_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:2592
    Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region
  2. XM_011541579.3XP_011539881.1  peroxisomal membrane protein PEX14 isoform X3

    Conserved Domains (1) summary
    pfam04695
    Location:39106
    Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region
  3. XM_011541577.2XP_011539879.1  peroxisomal membrane protein PEX14 isoform X1

    Conserved Domains (1) summary
    pfam04695
    Location:39149
    Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region
  4. XM_024447651.1XP_024303419.1  peroxisomal membrane protein PEX14 isoform X5

    Conserved Domains (1) summary
    TIGR04211
    Location:78156
    SH3_and_anchor; SH3 domain protein
  5. XM_011541578.2XP_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:9116
    Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region
  6. XM_005263470.5XP_005263527.1  peroxisomal membrane protein PEX14 isoform X5

    See identical proteins and their annotated locations for XP_005263527.1

    Conserved Domains (1) summary
    TIGR04211
    Location:78156
    SH3_and_anchor; SH3 domain protein
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