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Protein

Peroxisomal membrane protein PEX14

Gene

PEX14

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
  • signaling receptor binding Source: UniProtKB
  • transcription corepressor activity Source: UniProtKB

GO - Biological processi

Keywordsi

Biological processProtein transport, Translocation, Transport

Enzyme and pathway databases

ReactomeiR-HSA-8866654 E3 ubiquitin ligases ubiquitinate target proteins
R-HSA-9033241 Peroxisomal protein import
SIGNORiO75381

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

EuPathDBiHostDB:ENSG00000142655.12
HGNCiHGNC:8856 PEX14
MIMi601791 gene
neXtProtiNX_O75381

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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
GeneReviewsiPEX14
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
ProteomicsDBi49953
49954 [O75381-2]
TopDownProteomicsiO75381-2 [O75381-2]

PTM databases

iPTMnetiO75381
PhosphoSitePlusiO75381

Expressioni

Gene expression databases

BgeeiENSG00000142655 Expressed in 226 organ(s), highest expression level in fundus of stomach
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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi111218, 80 interactors
CORUMiO75381
ELMiO75381
IntActiO75381, 78 interactors
MINTiO75381
STRINGi9606.ENSP00000349016

Structurei

Secondary structure

1377
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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
OMAiWQMAAAN
OrthoDBiEOG091G0LT7
PhylomeDBiO75381
TreeFamiTF323535

Family and domain databases

Gene3Di1.10.10.10, 1 hit
InterProiView protein in InterPro
IPR025655 PEX14
IPR006785 Pex14_N
IPR036388 WH-like_DNA-bd_sf
PANTHERiPTHR23058 PTHR23058, 1 hit
PfamiView protein in Pfam
PF04695 Pex14_N, 1 hit

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

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7EK59K7EK59_HUMAN
Peroxisomal membrane protein PEX14
PEX14
160Annotation score:

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 dbSNP:rs12061667EnsemblClinVar.1
Natural variantiVAR_051270150A → S. Corresponds to variant dbSNP:rs11539793Ensembl.1
Natural variantiVAR_051271320R → K. Corresponds to variant dbSNP:rs12070353EnsemblClinVar.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 Genomic DNA No translation available.
AL354956 Genomic DNA No translation available.
AL591403 Genomic DNA No translation available.
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

Similar proteinsi

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 Genomic DNA No translation available.
AL354956 Genomic DNA No translation available.
AL591403 Genomic DNA No translation available.
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, 80 interactors
CORUMiO75381
ELMiO75381
IntActiO75381, 78 interactors
MINTiO75381
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
ProteomicsDBi49953
49954 [O75381-2]
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
EuPathDBiHostDB:ENSG00000142655.12
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
OMAiWQMAAAN
OrthoDBiEOG091G0LT7
PhylomeDBiO75381
TreeFamiTF323535

Enzyme and pathway databases

ReactomeiR-HSA-8866654 E3 ubiquitin ligases ubiquitinate target proteins
R-HSA-9033241 Peroxisomal protein import
SIGNORiO75381

Miscellaneous databases

ChiTaRSiPEX14 human
EvolutionaryTraceiO75381
GeneWikiiPEX14
GenomeRNAii5195
PROiPR:O75381
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000142655 Expressed in 226 organ(s), highest expression level in fundus of stomach
CleanExiHS_PEX14
ExpressionAtlasiO75381 baseline and differential
GenevisibleiO75381 HS

Family and domain databases

Gene3Di1.10.10.10, 1 hit
InterProiView protein in InterPro
IPR025655 PEX14
IPR006785 Pex14_N
IPR036388 WH-like_DNA-bd_sf
PANTHERiPTHR23058 PTHR23058, 1 hit
PfamiView protein in Pfam
PF04695 Pex14_N, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPEX14_HUMAN
AccessioniPrimary (citable) accession number: O75381
Secondary accession number(s): B2R7N1
, B3KML6, B7Z1N2, Q8WX51
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 1, 1998
Last modified: November 7, 2018
This is version 162 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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