O75381 (PEX14_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 112.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Peroxisomal membrane protein PEX14 Alternative name(s): PTS1 receptor-docking protein Peroxin-14 Peroxisomal membrane anchor protein PEX14 | ||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 377 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Component of the peroxisomal translocation machinery with PEX13 and PEX17. Interacts with both the PTS1 and PTS2 receptors. Binds directly to PEX17. |
| Subunit structure | |
| Subcellular location | Peroxisome membrane; Peripheral membrane protein; Cytoplasmic side Ref.15. |
| Involvement in disease | Peroxisome biogenesis disorder complementation group K (PBD-CGK) [MIM:614887]: A 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). Peroxisome biogenesis disorder 13A (PBD13A) [MIM:614887]: A 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. |
| Sequence similarities | Belongs to the peroxin-14 family. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| PEX19 | P40855 | 4 | EBI-594898,EBI-594747 |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: O75381-1) 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. | ||||||
| Isoform 2 (identifier: O75381-2) The sequence of this isoform differs from the canonical sequence as follows: 58-100: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||||||||
Molecule processing | |||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Initiator methionine | 1 | 1 | Removed Ref.8 | ||||||||||||||
| Chain | 2 – 377 | 376 | Peroxisomal membrane protein PEX14 | PRO_0000058325 | |||||||||||||
Amino acid modifications | |||||||||||||||||
| Modified residue | 2 | 1 | N-acetylalanine Ref.8 | ||||||||||||||
| Modified residue | 34 | 1 | N6-acetyllysine Ref.12 | ||||||||||||||
| Modified residue | 335 | 1 | Phosphoserine Ref.11 | ||||||||||||||
Natural variations | |||||||||||||||||
| Alternative sequence | 58 – 100 | 43 | Missing in isoform 2. | VSP_037021 | |||||||||||||
| Natural variant | 117 | 1 | A → S. Corresponds to variant rs12061667 [ dbSNP | Ensembl ]. | VAR_051269 | |||||||||||||
| Natural variant | 150 | 1 | A → S. Corresponds to variant rs11539793 [ dbSNP | Ensembl ]. | VAR_051270 | |||||||||||||
| Natural variant | 320 | 1 | R → K. Corresponds to variant rs12070353 [ dbSNP | Ensembl ]. | VAR_051271 | |||||||||||||
Experimental info | |||||||||||||||||
| Mutagenesis | 52 | 1 | F → A or W: Reduced interaction with PEX19, minor effect on interaction with PEX5. Ref.15 | ||||||||||||||
| Mutagenesis | 56 | 1 | K → A or E: Reduced interaction with PEX19, minor effect on interaction with PEX5. Ref.15 | ||||||||||||||
| Sequence conflict | 319 | 1 | K → E in BAG51028. Ref.3 | ||||||||||||||
Secondary structure | |||||||||||||||||
Helix Strand Turn | |||||||||||||||||
| Helix | 26 – 36 | 11 | |||||||||||||||
| Helix | 41 – 43 | 3 | |||||||||||||||
| Helix | 46 – 55 | 10 | |||||||||||||||
| Helix | 60 – 70 | 11 | |||||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Identification of a human PTS1 receptor docking protein directly required for peroxisomal protein import." Fransen M., Terlecky S.R., Subramani S. Proc. Natl. Acad. Sci. U.S.A. 95:8087-8092(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [2] | "The peroxin Pex14p. cDNA cloning by functional complementation on a Chinese hamster ovary cell mutant, characterization, and functional analysis." Shimizu N., Itoh R., Hirono Y., Otera H., Ghaedi K., Tateishi K., Tamura S., Okumoto K., Harano T., Mukai S., Fujiki Y. J. Biol. Chem. 274:12593-12604(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [3] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Brain, Cerebellum and Placenta. |
| [4] | "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S., Neubert P., Kstrang K., Schatten R., Shen B., Henze S., Mar W., Korn B., Zuo D., Hu Y., LaBaer J. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). |
| [5] | "The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. Bentley D.R.Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Muscle. |
| [8] | Bienvenut W.V., Lempens A., Norman J.C. Submitted (OCT-2009) to UniProtKB Cited for: PROTEIN SEQUENCE OF 2-34; 184-195 AND 352-363, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT ALA-2, MASS SPECTROMETRY. Tissue: Ovarian carcinoma. |
| [9] | "PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis." Sacksteder K.A., Jones J.M., South S.T., Li X., Liu Y., Gould S.J. J. Cell Biol. 148:931-944(2000) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH PEX19. |
| [10] | "Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene." Shimozawa N., Tsukamoto T., Nagase T., Takemoto Y., Koyama N., Suzuki Y., Komori M., Osumi T., Jeannette G., Wanders R.J., Kondo N. Hum. Mutat. 23:552-558(2004) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN PBD-CGK AND PBD13A. |
| [11] | "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-335, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [12] | "Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-34, MASS SPECTROMETRY. |
| [13] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [14] | "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [15] | "Structural basis for competitive interactions of Pex14 with the import receptors Pex5 and Pex19." Neufeld C., Filipp F.V., Simon B., Neuhaus A., Schueller N., David C., Kooshapur H., Madl T., Erdmann R., Schliebs W., Wilmanns M., Sattler M. EMBO J. 28:745-754(2009) [PubMed] [Europe PMC] [Abstract] Cited for: STRUCTURE BY NMR OF 16-80 IN COMPLEXES WITH PEX5 AND PEX19, MUTAGENESIS OF PHE-52 AND LYS-56, SUBCELLULAR LOCATION, INTERACTION WITH PEX5 AND PEX19. |
| + | Additional computationally mapped references. |
Web resources
Cross-references
Sequence databases | |||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | 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. | ||||||||||||||||||
| IPI | IPI00025346. IPI00922479. | ||||||||||||||||||
| RefSeq | NP_004556.1. NM_004565.2. | ||||||||||||||||||
| UniGene | Hs.149983. | ||||||||||||||||||
3D structure databases | |||||||||||||||||||
| PDBe RCSB PDB PDBj |
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| ProteinModelPortal | O75381. | ||||||||||||||||||
| ModBase | Search... | ||||||||||||||||||
Protein-protein interaction databases | |||||||||||||||||||
| IntAct | O75381. 61 interactions. | ||||||||||||||||||
| MINT | MINT-241450. | ||||||||||||||||||
| STRING | 9606.ENSP00000349016. | ||||||||||||||||||
Protein family/group databases | |||||||||||||||||||
| TCDB | 3.A.20.1.1. peroxisomal protein importer (PPI) family. | ||||||||||||||||||
PTM databases | |||||||||||||||||||
| PhosphoSite | O75381. | ||||||||||||||||||
Proteomic databases | |||||||||||||||||||
| PaxDb | O75381. | ||||||||||||||||||
| PeptideAtlas | O75381. | ||||||||||||||||||
| PRIDE | O75381. | ||||||||||||||||||
Protocols and materials databases | |||||||||||||||||||
| DNASU | 5195. | ||||||||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||||||||
Genome annotation databases | |||||||||||||||||||
| Ensembl | ENST00000356607; ENSP00000349016; ENSG00000142655. | ||||||||||||||||||
| GeneID | 5195. | ||||||||||||||||||
| KEGG | hsa:5195. | ||||||||||||||||||
| UCSC | uc001arn.3. human. uc010oan.2. human. | ||||||||||||||||||
Organism-specific databases | |||||||||||||||||||
| CTD | 5195. | ||||||||||||||||||
| GeneCards | GC01P010532. | ||||||||||||||||||
| HGNC | HGNC:8856. PEX14. | ||||||||||||||||||
| MIM | 601791. gene. 614887. phenotype. | ||||||||||||||||||
| neXtProt | NX_O75381. | ||||||||||||||||||
| Orphanet | 772. Infantile Refsum disease. 44. Neonatal adrenoleukodystrophy. 912. Zellweger syndrome. | ||||||||||||||||||
| PharmGKB | PA33198. | ||||||||||||||||||
| GenAtlas | Search... | ||||||||||||||||||
Phylogenomic databases | |||||||||||||||||||
| eggNOG | NOG136629. | ||||||||||||||||||
| HOGENOM | HOG000220930. | ||||||||||||||||||
| HOVERGEN | HBG053571. | ||||||||||||||||||
| InParanoid | O75381. | ||||||||||||||||||
| KO | K13343. | ||||||||||||||||||
| OMA | WQIPVKP. | ||||||||||||||||||
| OrthoDB | EOG4BCDNM. | ||||||||||||||||||
| PhylomeDB | O75381. | ||||||||||||||||||
Gene expression databases | |||||||||||||||||||
| ArrayExpress | O75381. | ||||||||||||||||||
| Bgee | O75381. | ||||||||||||||||||
| CleanEx | HS_PEX14. | ||||||||||||||||||
| Genevestigator | O75381. | ||||||||||||||||||
Family and domain databases | |||||||||||||||||||
| InterPro | IPR025655. PEX14. IPR006785. Pex14_N. [Graphical view] | ||||||||||||||||||
| PANTHER | PTHR23058. PTHR23058. 1 hit. | ||||||||||||||||||
| Pfam | PF04695. Pex14_N. 1 hit. [Graphical view] | ||||||||||||||||||
| ProtoNet | Search... | ||||||||||||||||||
Other | |||||||||||||||||||
| ChiTaRS | PEX14. human. | ||||||||||||||||||
| EvolutionaryTrace | O75381. | ||||||||||||||||||
| GenomeRNAi | 5195. | ||||||||||||||||||
| NextBio | 20094. | ||||||||||||||||||
| SOURCE | Search... | ||||||||||||||||||
Entry information
| Entry name | PEX14_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O75381 Secondary accession number(s): B2R7N1 Q8WX51 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 1 Human chromosome 1: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with
