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O00623

- PEX12_HUMAN

UniProt

O00623 - PEX12_HUMAN

Protein

Peroxisome assembly protein 12

Gene

PEX12

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 128 (01 Oct 2014)
      Sequence version 1 (01 Jul 1997)
      Previous versions | rss
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    Functioni

    Required for protein import into peroxisomes.1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri304 – 34340RING-type; degenerateAdd
    BLAST

    GO - Molecular functioni

    1. protein binding Source: UniProtKB
    2. protein C-terminus binding Source: UniProtKB
    3. zinc ion binding Source: UniProtKB

    GO - Biological processi

    1. peroxisome organization Source: UniProtKB
    2. protein import into peroxisome matrix Source: UniProtKB
    3. protein targeting to peroxisome Source: UniProtKB

    Keywords - Ligandi

    Metal-binding, Zinc

    Protein family/group databases

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

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Peroxisome assembly protein 12
    Alternative name(s):
    Peroxin-12
    Peroxisome assembly factor 3
    Short name:
    PAF-3
    Gene namesi
    Name:PEX12
    Synonyms:PAF3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:8854. PEX12.

    Subcellular locationi

    Peroxisome membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. integral component of peroxisomal membrane Source: UniProtKB
    2. peroxisomal membrane Source: UniProtKB
    3. peroxisome Source: MGI

    Keywords - Cellular componenti

    Membrane, Peroxisome

    Pathology & Biotechi

    Involvement in diseasei

    Peroxisome biogenesis disorder complementation group 3 (PBD-CG3) [MIM:614859]: 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).1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti34 – 341R → S in PBD-CG3. 1 Publication
    Corresponds to variant rs147530802 [ dbSNP | Ensembl ].
    VAR_058389
    Natural varianti178 – 1781Missing in PBD-CG3. 1 Publication
    VAR_058390
    Natural varianti349 – 3491Missing in PBD-CG3. 1 Publication
    VAR_058391
    Peroxisome biogenesis disorder 3A (PBD3A) [MIM:614859]: 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Peroxisome biogenesis disorder 3B (PBD3B) [MIM:266510]: A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid.
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti320 – 3201S → F in PBD3B; attenuates interaction with PEX10 and decreases peroxisomal protein import. 1 Publication
    Corresponds to variant rs28936697 [ dbSNP | Ensembl ].
    VAR_031998

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi304 – 3041C → W: Abolishes interaction with PEX19; when associated with Q-307. 1 Publication
    Mutagenesisi307 – 3071C → Q: Abolishes interaction with PEX19; when associated with W-304. 1 Publication

    Keywords - Diseasei

    Disease mutation, Peroxisome biogenesis disorder, Zellweger syndrome

    Organism-specific databases

    MIMi266510. phenotype.
    614859. phenotype.
    Orphaneti772. Infantile Refsum disease.
    44. Neonatal adrenoleukodystrophy.
    912. Zellweger syndrome.
    PharmGKBiPA33196.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 359359Peroxisome assembly protein 12PRO_0000218610Add
    BLAST

    Proteomic databases

    MaxQBiO00623.
    PaxDbiO00623.
    PRIDEiO00623.

    PTM databases

    PhosphoSiteiO00623.

    Expressioni

    Gene expression databases

    ArrayExpressiO00623.
    BgeeiO00623.
    CleanExiHS_PEX12.
    GenevestigatoriO00623.

    Interactioni

    Subunit structurei

    Interacts with PEX5 and PEX10. Interacts with PEX19 via its cytoplasmic domain.3 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    PEX19P408552EBI-594836,EBI-594747
    PEX5P505424EBI-594836,EBI-597835

    Protein-protein interaction databases

    BioGridi111216. 4 interactions.
    IntActiO00623. 3 interactions.
    MINTiMINT-241654.
    STRINGi9606.ENSP00000225873.

    Structurei

    3D structure databases

    ProteinModelPortaliO00623.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 158158CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini180 – 23960Peroxisomal matrixSequence AnalysisAdd
    BLAST
    Topological domaini261 – 35999CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei159 – 17921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei240 – 26021HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi280 – 2856Poly-Pro

    Sequence similaritiesi

    Belongs to the pex2/pex10/pex12 family.Curated
    Contains 1 RING-type zinc finger.Curated

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri304 – 34340RING-type; degenerateAdd
    BLAST

    Keywords - Domaini

    Transmembrane, Transmembrane helix, Zinc-finger

    Phylogenomic databases

    eggNOGiNOG328872.
    HOGENOMiHOG000038427.
    HOVERGENiHBG053569.
    InParanoidiO00623.
    KOiK13345.
    OMAiFHYVRSH.
    OrthoDBiEOG73NG3W.
    PhylomeDBiO00623.
    TreeFamiTF314511.

    Family and domain databases

    Gene3Di3.30.40.10. 1 hit.
    InterProiIPR017375. PEX12.
    IPR006845. Pex_N.
    IPR001841. Znf_RING.
    IPR013083. Znf_RING/FYVE/PHD.
    [Graphical view]
    PANTHERiPTHR12888. PTHR12888. 1 hit.
    PfamiPF04757. Pex2_Pex12. 1 hit.
    [Graphical view]
    PIRSFiPIRSF038074. Peroxisome_assembly_p12. 1 hit.
    SMARTiSM00184. RING. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    O00623-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAEHGAHFTA ASVADDQPSI FEVVAQDSLM TAVRPALQHV VKVLAESNPT    50
    HYGFLWRWFD EIFTLLDLLL QQHYLSRTSA SFSENFYGLK RIVMGDTHKS 100
    QRLASAGLPK QQLWKSIMFL VLLPYLKVKL EKLVSSLREE DEYSIHPPSS 150
    RWKRFYRAFL AAYPFVNMAW EGWFLVQQLR YILGKAQHHS PLLRLAGVQL 200
    GRLTVQDIQA LEHKPAKASM MQQPARSVSE KINSALKKAV GGVALSLSTG 250
    LSVGVFFLQF LDWWYSSENQ ETIKSLTALP TPPPPVHLDY NSDSPLLPKM 300
    KTVCPLCRKT RVNDTVLATS GYVFCYRCVF HYVRSHQACP ITGYPTEVQH 350
    LIKLYSPEN 359
    Length:359
    Mass (Da):40,797
    Last modified:July 1, 1997 - v1
    Checksum:i1AF0BE6416422109
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti34 – 341R → S in PBD-CG3. 1 Publication
    Corresponds to variant rs147530802 [ dbSNP | Ensembl ].
    VAR_058389
    Natural varianti178 – 1781Missing in PBD-CG3. 1 Publication
    VAR_058390
    Natural varianti245 – 2451L → I.1 Publication
    Corresponds to variant rs12941376 [ dbSNP | Ensembl ].
    VAR_050495
    Natural varianti320 – 3201S → F in PBD3B; attenuates interaction with PEX10 and decreases peroxisomal protein import. 1 Publication
    Corresponds to variant rs28936697 [ dbSNP | Ensembl ].
    VAR_031998
    Natural varianti349 – 3491Missing in PBD-CG3. 1 Publication
    VAR_058391

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U91521 mRNA. Translation: AAC68812.1.
    U91522 Genomic DNA. Translation: AAC68813.1.
    AB004546 mRNA. Translation: BAA31559.1.
    AK312635 mRNA. Translation: BAG35519.1.
    CH471147 Genomic DNA. Translation: EAW80143.1.
    BC031085 mRNA. Translation: AAH31085.1.
    CCDSiCCDS11296.1.
    RefSeqiNP_000277.1. NM_000286.2.
    UniGeneiHs.591190.

    Genome annotation databases

    EnsembliENST00000225873; ENSP00000225873; ENSG00000108733.
    GeneIDi5193.
    KEGGihsa:5193.
    UCSCiuc002hjp.3. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    dbPEX, PEX Gene Database

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U91521 mRNA. Translation: AAC68812.1 .
    U91522 Genomic DNA. Translation: AAC68813.1 .
    AB004546 mRNA. Translation: BAA31559.1 .
    AK312635 mRNA. Translation: BAG35519.1 .
    CH471147 Genomic DNA. Translation: EAW80143.1 .
    BC031085 mRNA. Translation: AAH31085.1 .
    CCDSi CCDS11296.1.
    RefSeqi NP_000277.1. NM_000286.2.
    UniGenei Hs.591190.

    3D structure databases

    ProteinModelPortali O00623.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111216. 4 interactions.
    IntActi O00623. 3 interactions.
    MINTi MINT-241654.
    STRINGi 9606.ENSP00000225873.

    Protein family/group databases

    TCDBi 3.A.20.1.1. the peroxisomal protein importer (ppi) family.

    PTM databases

    PhosphoSitei O00623.

    Proteomic databases

    MaxQBi O00623.
    PaxDbi O00623.
    PRIDEi O00623.

    Protocols and materials databases

    DNASUi 5193.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000225873 ; ENSP00000225873 ; ENSG00000108733 .
    GeneIDi 5193.
    KEGGi hsa:5193.
    UCSCi uc002hjp.3. human.

    Organism-specific databases

    CTDi 5193.
    GeneCardsi GC17M033897.
    GeneReviewsi PEX12.
    HGNCi HGNC:8854. PEX12.
    MIMi 266510. phenotype.
    601758. gene.
    614859. phenotype.
    neXtProti NX_O00623.
    Orphaneti 772. Infantile Refsum disease.
    44. Neonatal adrenoleukodystrophy.
    912. Zellweger syndrome.
    PharmGKBi PA33196.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG328872.
    HOGENOMi HOG000038427.
    HOVERGENi HBG053569.
    InParanoidi O00623.
    KOi K13345.
    OMAi FHYVRSH.
    OrthoDBi EOG73NG3W.
    PhylomeDBi O00623.
    TreeFami TF314511.

    Miscellaneous databases

    GeneWikii PEX12.
    GenomeRNAii 5193.
    NextBioi 20086.
    PROi O00623.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O00623.
    Bgeei O00623.
    CleanExi HS_PEX12.
    Genevestigatori O00623.

    Family and domain databases

    Gene3Di 3.30.40.10. 1 hit.
    InterProi IPR017375. PEX12.
    IPR006845. Pex_N.
    IPR001841. Znf_RING.
    IPR013083. Znf_RING/FYVE/PHD.
    [Graphical view ]
    PANTHERi PTHR12888. PTHR12888. 1 hit.
    Pfami PF04757. Pex2_Pex12. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF038074. Peroxisome_assembly_p12. 1 hit.
    SMARTi SM00184. RING. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders."
      Chang C.-C., Lee W.-H., Moser H., Valle D., Gould S.J.
      Nat. Genet. 15:385-388(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], INVOLVEMENT IN PBD3A.
      Tissue: Fetal brain.
    2. "PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p."
      Okumoto K., Shimozawa N., Kawai A., Tamura S., Tsukamoto T., Osumi T., Moser H., Wanders R.J.A., Suzuki Y., Kondo N., Fujiki Y.
      Mol. Cell. Biol. 18:4324-4336(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANT PBD3B PHE-320.
    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.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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].
      Tissue: Testis.
    6. "PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import."
      Chang C.C., Warren D.S., Sacksteder K.A., Gould S.J.
      J. Cell Biol. 147:761-774(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PEX5 AND PEX10.
    7. "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.
    8. "Human pex19p binds peroxisomal integral membrane proteins at regions distinct from their sorting sequences."
      Fransen M., Wylin T., Brees C., Mannaerts G.P., Van Veldhoven P.P.
      Mol. Cell. Biol. 21:4413-4424(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PEX19, MUTAGENESIS OF CYS-304 AND CYS-307.
    9. "Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders."
      Yik W.Y., Steinberg S.J., Moser A.B., Moser H.W., Hacia J.G.
      Hum. Mutat. 30:E467-E480(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS PBD-CG3 SER-34; GLN-178 DEL; PHE-320 AND GLN-349 DEL, VARIANT ILE-245.

    Entry informationi

    Entry nameiPEX12_HUMAN
    AccessioniPrimary (citable) accession number: O00623
    Secondary accession number(s): B2R6M2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: July 1, 1997
    Last modified: October 1, 2014
    This is version 128 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3