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

Gene ID: 5195, updated on 6-Nov-2022

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
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Genomic context

See PEX14 in Genome Data Viewer
Location:
1p36.22
Exon count:
13
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (10474950..10630758)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (10018558..10174355)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (10535007..10690815)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene CENPS-CORT readthrough Neighboring gene cortistatin Neighboring gene Sharpr-MPRA regulatory region 5895 Neighboring gene DNA fragmentation factor subunit alpha Neighboring gene Sharpr-MPRA regulatory region 3136 Neighboring gene RNA, 7SL, cytoplasmic 614, pseudogene Neighboring gene castor zinc finger 1 Neighboring gene VISTA enhancer hs289 Neighboring gene Sharpr-MPRA regulatory region 10351

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

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
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 N-terminus binding IPI
Inferred from Physical Interaction
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
PubMed 
enables signaling receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transcription corepressor activity 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 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
PubMed 
located_in peroxisomal membrane HDA PubMed 
is_active_in peroxisomal membrane IBA
Inferred from Biological aspect of Ancestor
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

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

  1. NG_008340.2 RefSeqGene

    Range
    5005..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, Q8WX51
    Related
    ENSP00000349016.4, ENST00000356607.9
    Conserved Domains (1) summary
    pfam04695
    Location:2468
    Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    10474950..10630758
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047422544.1XP_047278500.1  peroxisomal membrane protein PEX14 isoform X5

  2. XM_047422546.1XP_047278502.1  peroxisomal membrane protein PEX14 isoform X7

  3. XM_047422545.1XP_047278501.1  peroxisomal membrane protein PEX14 isoform X6

  4. XM_047422543.1XP_047278499.1  peroxisomal membrane protein PEX14 isoform X2

  5. XM_011541580.2XP_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:2457
    Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region
  6. XM_011541579.4XP_011539881.1  peroxisomal membrane protein PEX14 isoform X3

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

    Conserved Domains (1) summary
    pfam04695
    Location:39149
    Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region
  8. XM_047422542.1XP_047278498.1  peroxisomal membrane protein PEX14 isoform X2

  9. XM_011541578.3XP_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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    10018558..10174355
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)