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Protein

Peroxisomal membrane protein PEX14

Gene

PEX14

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Peroxisome membrane protein that is an essential component of the peroxisomal import machinery. Functions as a docking factor for the predominantly cytoplasmic PTS1 receptor (PEX5). Plays a key role for peroxisome movement through a direct interaction with tubulin.2 Publications

GO - Molecular functioni

  • beta-tubulin binding Source: UniProtKB
  • microtubule binding Source: UniProtKB
  • protein N-terminus binding Source: UniProtKB
  • receptor binding Source: UniProtKB
  • transcription corepressor activity Source: UniProtKB

GO - Biological processi

  • microtubule anchoring Source: UniProtKB
  • negative regulation of protein binding Source: UniProtKB
  • negative regulation of protein homotetramerization Source: UniProtKB
  • negative regulation of sequence-specific DNA binding transcription factor activity Source: UniProtKB
  • negative regulation of transcription, DNA-templated Source: UniProtKB
  • peroxisome organization Source: UniProtKB
  • peroxisome transport along microtubule Source: UniProtKB
  • protein complex assembly Source: UniProtKB
  • protein homooligomerization Source: UniProtKB
  • protein import into peroxisome matrix Source: UniProtKB
  • protein import into peroxisome matrix, substrate release Source: UniProtKB
  • protein import into peroxisome matrix, translocation Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Protein transport, Translocation, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000142655-MONOMER.

Protein family/group databases

TCDBi3.A.20.1.1. the peroxisomal protein importer (ppi) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Peroxisomal membrane protein PEX14
Alternative name(s):
PTS1 receptor-docking protein
Peroxin-14
Peroxisomal membrane anchor protein PEX14
Gene namesi
Name:PEX14
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:8856. PEX14.

Subcellular locationi

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB
  • intracellular Source: UniProtKB
  • intracellular membrane-bounded organelle Source: HPA
  • membrane Source: UniProtKB
  • nucleolus Source: HPA
  • nucleus Source: UniProtKB
  • peroxisomal membrane Source: UniProtKB
  • peroxisome Source: UniProtKB
  • protein complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Peroxisome

Pathology & Biotechi

Involvement in diseasei

Peroxisome biogenesis disorder complementation group K (PBD-CGK)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
See also OMIM:614887
Peroxisome biogenesis disorder 13A (PBD13A)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life.
See also OMIM:614887

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi52F → A or W: Reduced interaction with PEX19, minor effect on interaction with PEX5. 1 Publication1
Mutagenesisi56K → A or E: Reduced interaction with PEX19, minor effect on interaction with PEX5. 1 Publication1

Keywords - Diseasei

Peroxisome biogenesis disorder, Zellweger syndrome

Organism-specific databases

DisGeNETi5195.
MalaCardsiPEX14.
MIMi614887. phenotype.
OpenTargetsiENSG00000142655.
Orphaneti772. Infantile Refsum disease.
44. Neonatal adrenoleukodystrophy.
912. Zellweger syndrome.
PharmGKBiPA33198.

Polymorphism and mutation databases

BioMutaiPEX14.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources1 Publication
ChainiPRO_00000583252 – 377Peroxisomal membrane protein PEX14Add BLAST376

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1 Publication1
Modified residuei34N6-acetyllysineCombined sources1
Modified residuei232PhosphoserineCombined sources1
Modified residuei282PhosphoserineBy similarity1
Modified residuei335PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiO75381.
MaxQBiO75381.
PaxDbiO75381.
PeptideAtlasiO75381.
PRIDEiO75381.
TopDownProteomicsiO75381-2. [O75381-2]

PTM databases

iPTMnetiO75381.
PhosphoSitePlusiO75381.

Expressioni

Gene expression databases

BgeeiENSG00000142655.
CleanExiHS_PEX14.
ExpressionAtlasiO75381. baseline and differential.
GenevisibleiO75381. HS.

Organism-specific databases

HPAiHPA046104.
HPA049231.

Interactioni

Subunit structurei

Interacts with PEX5, PEX13 and PEX19. Interacts with tubulin.4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
PEX19P4085515EBI-594898,EBI-594747
PEX5P5054213EBI-594898,EBI-597835

GO - Molecular functioni

  • beta-tubulin binding Source: UniProtKB
  • microtubule binding Source: UniProtKB
  • protein N-terminus binding Source: UniProtKB
  • receptor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi111218. 77 interactors.
IntActiO75381. 69 interactors.
MINTiMINT-241450.
STRINGi9606.ENSP00000349016.

Structurei

Secondary structure

1377
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi19 – 22Combined sources4
Helixi26 – 36Combined sources11
Helixi41 – 43Combined sources3
Helixi46 – 55Combined sources10
Helixi60 – 70Combined sources11

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2W84NMR-A16-80[»]
2W85NMR-A16-80[»]
4BXUNMR-A16-80[»]
ProteinModelPortaliO75381.
SMRiO75381.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO75381.

Family & Domainsi

Sequence similaritiesi

Belongs to the peroxin-14 family.Curated

Phylogenomic databases

eggNOGiKOG2629. Eukaryota.
ENOG4111P8A. LUCA.
GeneTreeiENSGT00390000015047.
HOGENOMiHOG000220930.
HOVERGENiHBG053571.
InParanoidiO75381.
KOiK13343.
OMAiWQIPVKP.
OrthoDBiEOG091G0LT7.
PhylomeDBiO75381.
TreeFamiTF323535.

Family and domain databases

InterProiIPR025655. PEX14.
IPR006785. Pex14_N.
[Graphical view]
PANTHERiPTHR23058. PTHR23058. 1 hit.
PfamiPF04695. Pex14_N. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O75381-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MASSEQAEQP SQPSSTPGSE NVLPREPLIA TAVKFLQNSR VRQSPLATRR
60 70 80 90 100
AFLKKKGLTD EEIDMAFQQS GTAADEPSSL GPATQVVPVQ PPHLISQPYS
110 120 130 140 150
PAGSRWRDYG ALAIIMAGIA FGFHQLYKKY LLPLILGGRE DRKQLERMEA
160 170 180 190 200
GLSELSGSVA QTVTQLQTTL ASVQELLIQQ QQKIQELAHE LAAAKATTST
210 220 230 240 250
NWILESQNIN ELKSEINSLK GLLLNRRQFP PSPSAPKIPS WQIPVKSPSP
260 270 280 290 300
SSPAAVNHHS SSDISPVSNE STSSSPGKEG HSPEGSTVTY HLLGPQEEGE
310 320 330 340 350
GVVDVKGQVR MEVQGEEEKR EDKEDEEDEE DDDVSHVDEE DCLGVQREDR
360 370
RGGDGQINEQ VEKLRRPEGA SNESERD
Length:377
Mass (Da):41,237
Last modified:November 1, 1998 - v1
Checksum:iFED28F62A0B94E7F
GO
Isoform 2 (identifier: O75381-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     58-100: Missing.

Note: No experimental confirmation available.
Show »
Length:334
Mass (Da):36,702
Checksum:i03B5FAF2B7892357
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti319K → E in BAG51028 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_051269117A → S.Corresponds to variant rs12061667dbSNPEnsembl.1
Natural variantiVAR_051270150A → S.Corresponds to variant rs11539793dbSNPEnsembl.1
Natural variantiVAR_051271320R → K.Corresponds to variant rs12070353dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_03702158 – 100Missing in isoform 2. 1 PublicationAdd BLAST43

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF045186 mRNA. Translation: AAC39843.1.
AB017546 mRNA. Translation: BAA36837.1.
AK002194 mRNA. Translation: BAG51028.1.
AK293684 mRNA. Translation: BAH11568.1.
AK313046 mRNA. Translation: BAG35878.1.
CR450321 mRNA. Translation: CAG29317.1.
CR542083 mRNA. Translation: CAG46880.1.
AL139423, AL354956, AL591403 Genomic DNA. Translation: CAD20149.2.
AL354956, AL139423, AL591403 Genomic DNA. Translation: CAI19198.1.
AL591403, AL139423, AL354956 Genomic DNA. Translation: CAH70044.1.
CH471130 Genomic DNA. Translation: EAW71661.1.
BC006327 mRNA. Translation: AAH06327.1.
CCDSiCCDS30582.1. [O75381-1]
RefSeqiNP_004556.1. NM_004565.2. [O75381-1]
XP_011539882.1. XM_011541580.1. [O75381-2]
UniGeneiHs.149983.

Genome annotation databases

EnsembliENST00000356607; ENSP00000349016; ENSG00000142655. [O75381-1]
GeneIDi5195.
KEGGihsa:5195.
UCSCiuc001arn.5. human. [O75381-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF045186 mRNA. Translation: AAC39843.1.
AB017546 mRNA. Translation: BAA36837.1.
AK002194 mRNA. Translation: BAG51028.1.
AK293684 mRNA. Translation: BAH11568.1.
AK313046 mRNA. Translation: BAG35878.1.
CR450321 mRNA. Translation: CAG29317.1.
CR542083 mRNA. Translation: CAG46880.1.
AL139423, AL354956, AL591403 Genomic DNA. Translation: CAD20149.2.
AL354956, AL139423, AL591403 Genomic DNA. Translation: CAI19198.1.
AL591403, AL139423, AL354956 Genomic DNA. Translation: CAH70044.1.
CH471130 Genomic DNA. Translation: EAW71661.1.
BC006327 mRNA. Translation: AAH06327.1.
CCDSiCCDS30582.1. [O75381-1]
RefSeqiNP_004556.1. NM_004565.2. [O75381-1]
XP_011539882.1. XM_011541580.1. [O75381-2]
UniGeneiHs.149983.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2W84NMR-A16-80[»]
2W85NMR-A16-80[»]
4BXUNMR-A16-80[»]
ProteinModelPortaliO75381.
SMRiO75381.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111218. 77 interactors.
IntActiO75381. 69 interactors.
MINTiMINT-241450.
STRINGi9606.ENSP00000349016.

Protein family/group databases

TCDBi3.A.20.1.1. the peroxisomal protein importer (ppi) family.

PTM databases

iPTMnetiO75381.
PhosphoSitePlusiO75381.

Polymorphism and mutation databases

BioMutaiPEX14.

Proteomic databases

EPDiO75381.
MaxQBiO75381.
PaxDbiO75381.
PeptideAtlasiO75381.
PRIDEiO75381.
TopDownProteomicsiO75381-2. [O75381-2]

Protocols and materials databases

DNASUi5195.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000356607; ENSP00000349016; ENSG00000142655. [O75381-1]
GeneIDi5195.
KEGGihsa:5195.
UCSCiuc001arn.5. human. [O75381-1]

Organism-specific databases

CTDi5195.
DisGeNETi5195.
GeneCardsiPEX14.
GeneReviewsiPEX14.
HGNCiHGNC:8856. PEX14.
HPAiHPA046104.
HPA049231.
MalaCardsiPEX14.
MIMi601791. gene.
614887. phenotype.
neXtProtiNX_O75381.
OpenTargetsiENSG00000142655.
Orphaneti772. Infantile Refsum disease.
44. Neonatal adrenoleukodystrophy.
912. Zellweger syndrome.
PharmGKBiPA33198.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2629. Eukaryota.
ENOG4111P8A. LUCA.
GeneTreeiENSGT00390000015047.
HOGENOMiHOG000220930.
HOVERGENiHBG053571.
InParanoidiO75381.
KOiK13343.
OMAiWQIPVKP.
OrthoDBiEOG091G0LT7.
PhylomeDBiO75381.
TreeFamiTF323535.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000142655-MONOMER.

Miscellaneous databases

ChiTaRSiPEX14. human.
EvolutionaryTraceiO75381.
GeneWikiiPEX14.
GenomeRNAii5195.
PROiO75381.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000142655.
CleanExiHS_PEX14.
ExpressionAtlasiO75381. baseline and differential.
GenevisibleiO75381. HS.

Family and domain databases

InterProiIPR025655. PEX14.
IPR006785. Pex14_N.
[Graphical view]
PANTHERiPTHR23058. PTHR23058. 1 hit.
PfamiPF04695. Pex14_N. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPEX14_HUMAN
AccessioniPrimary (citable) accession number: O75381
Secondary accession number(s): B2R7N1
, B3KML6, B7Z1N2, Q8WX51
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 1, 1998
Last modified: November 2, 2016
This is version 145 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.