Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q13608

- PEX6_HUMAN

UniProt

Q13608 - PEX6_HUMAN

Protein

Peroxisome assembly factor 2

Gene

PEX6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 135 (01 Oct 2014)
      Sequence version 2 (08 Dec 2000)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Involved in peroxisome biosynthesis. Required for stability of the PTS1 receptor. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi470 – 4778ATPSequence Analysis
    Nucleotide bindingi744 – 7518ATPSequence Analysis

    GO - Molecular functioni

    1. ATPase activity Source: UniProtKB
    2. ATPase activity, coupled Source: UniProtKB
    3. ATP binding Source: UniProtKB
    4. protein binding Source: UniProtKB
    5. protein complex binding Source: UniProtKB
    6. protein C-terminus binding Source: UniProtKB

    GO - Biological processi

    1. ATP catabolic process Source: GOC
    2. peroxisome organization Source: UniProtKB
    3. protein import into peroxisome matrix, translocation Source: UniProtKB
    4. protein stabilization Source: UniProtKB
    5. protein targeting to peroxisome Source: UniProtKB

    Keywords - Biological processi

    Peroxisome biogenesis

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Protein family/group databases

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

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Peroxisome assembly factor 2
    Short name:
    PAF-2
    Alternative name(s):
    Peroxin-6
    Peroxisomal biogenesis factor 6
    Peroxisomal-type ATPase 1
    Gene namesi
    Name:PEX6
    Synonyms:PXAAA1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:8859. PEX6.

    Subcellular locationi

    Cytoplasm. Peroxisome membrane
    Note: Associated with peroxisomal membranes.

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. cytosol Source: UniProtKB
    3. peroxisomal membrane Source: UniProtKB-SubCell
    4. peroxisome Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Membrane, Peroxisome

    Pathology & Biotechi

    Involvement in diseasei

    Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:614862]: 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 varianti274 – 2741P → L in PBD-CG4. 1 Publication
    VAR_058382
    Natural varianti849 – 8491N → T in PBD-CG4. 1 Publication
    VAR_058384
    Natural varianti860 – 8601R → Q in PBD-CG4. 1 Publication
    VAR_058385
    Natural varianti860 – 8601R → W in PBD-CG4. 1 Publication
    VAR_058386
    Peroxisome biogenesis disorder 4A (PBD4A) [MIM:614862]: 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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti812 – 8121R → Q in PBD4A. 1 Publication
    VAR_007918
    Natural varianti812 – 8121R → W in PBD4A; atypical. 1 Publication
    VAR_007919
    Peroxisome biogenesis disorder 4B (PBD4B) [MIM:614863]: 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Disease mutation, Peroxisome biogenesis disorder, Zellweger syndrome

    Organism-specific databases

    MIMi614862. phenotype.
    614863. phenotype.
    Orphaneti772. Infantile Refsum disease.
    44. Neonatal adrenoleukodystrophy.
    912. Zellweger syndrome.
    PharmGKBiPA33201.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 980980Peroxisome assembly factor 2PRO_0000084607Add
    BLAST

    Proteomic databases

    MaxQBiQ13608.
    PaxDbiQ13608.
    PRIDEiQ13608.

    PTM databases

    PhosphoSiteiQ13608.

    Expressioni

    Gene expression databases

    ArrayExpressiQ13608.
    BgeeiQ13608.
    CleanExiHS_PEX6.
    GenevestigatoriQ13608.

    Organism-specific databases

    HPAiHPA025924.

    Interactioni

    Subunit structurei

    Interacts directly with PEX26 and PEX1. Mediates the indirect interaction between PEX1 and PEX26. Interacts with ZFAND6.2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    PEX1O439332EBI-988581,EBI-988601

    Protein-protein interaction databases

    BioGridi111213. 7 interactions.
    IntActiQ13608. 6 interactions.
    MINTiMINT-1183928.
    STRINGi9606.ENSP00000303511.

    Structurei

    3D structure databases

    ProteinModelPortaliQ13608.
    SMRiQ13608. Positions 435-971.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the AAA ATPase family.Curated

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiCOG0464.
    HOGENOMiHOG000241031.
    HOVERGENiHBG002311.
    InParanoidiQ13608.
    KOiK13339.
    OMAiWHDVGGL.
    OrthoDBiEOG74J979.
    PhylomeDBiQ13608.
    TreeFamiTF106428.

    Family and domain databases

    Gene3Di3.40.50.300. 2 hits.
    InterProiIPR003593. AAA+_ATPase.
    IPR003959. ATPase_AAA_core.
    IPR003960. ATPase_AAA_CS.
    IPR027417. P-loop_NTPase.
    [Graphical view]
    PfamiPF00004. AAA. 2 hits.
    [Graphical view]
    SMARTiSM00382. AAA. 2 hits.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 2 hits.
    PROSITEiPS00674. AAA. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q13608-1 [UniParc]FASTAAdd to Basket

    « Hide

    MALAVLRVLE PFPTETPPLA VLLPPGGPWP AAELGLVLAL RPAGESPAGP    50
    ALLVAALEGP DAGTEEQGPG PPQLLVSRAL LRLLALGSGA WVRARAVRRP 100
    PALGWALLGT SLGPGLGPRV GPLLVRRGET LPVPGPRVLE TRPALQGLLG 150
    PGTRLAVTEL RGRARLCPES GDSSRPPPPP VVSSFAVSGT VRRLQGVLGG 200
    TGDSLGVSRS CLRGLGLFQG EWVWVAQARE SSNTSQPHLA RVQVLEPRWD 250
    LSDRLGPGSG PLGEPLADGL ALVPATLAFN LGCDPLEMGE LRIQRYLEGS 300
    IAPEDKGSCS LLPGPPFARE LHIEIVSSPH YSTNGNYDGV LYRHFQIPRV 350
    VQEGDVLCVP TIGQVEILEG SPEKLPRWRE MFFKVKKTVG EAPDGPASAY 400
    LADTTHTSLY MVGSTLSPVP WLPSEESTLW SSLSPPGLEA LVSELCAVLK 450
    PRLQPGGALL TGTSSVLLRG PPGCGKTTVV AAACSHLGLH LLKVPCSSLC 500
    AESSGAVETK LQAIFSRARR CRPAVLLLTA VDLLGRDRDG LGEDARVMAV 550
    LRHLLLNEDP LNSCPPLMVV ATTSRAQDLP ADVQTAFPHE LEVPALSEGQ 600
    RLSILRALTA HLPLGQEVNL AQLARRCAGF VVGDLYALLT HSSRAACTRI 650
    KNSGLAGGLT EEDEGELCAA GFPLLAEDFG QALEQLQTAH SQAVGAPKIP 700
    SVSWHDVGGL QEVKKEILET IQLPLEHPEL LSLGLRRSGL LLHGPPGTGK 750
    TLLAKAVATE CSLTFLSVKG PELINMYVGQ SEENVREVFA RARAAAPCII 800
    FFDELDSLAP SRGRSGDSGG VMDRVVSQLL AELDGLHSTQ DVFVIGATNR 850
    PDLLDPALLR PGRFDKLVFV GANEDRASQL RVLSAITRKF KLEPSVSLVN 900
    VLDCCPPQLT GADLYSLCSD AMTAALKRRV HDLEEGLEPG SSALMLTMED 950
    LLQAAARLQP SVSEQELLRY KRIQRKFAAC 980
    Length:980
    Mass (Da):104,061
    Last modified:December 8, 2000 - v2
    Checksum:i0EC1C2A75CE0038F
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti77 – 771S → N in AAC50655. (PubMed:8670792)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti79 – 791A → P.1 Publication
    Corresponds to variant rs61752141 [ dbSNP | Ensembl ].
    VAR_058381
    Natural varianti274 – 2741P → L in PBD-CG4. 1 Publication
    VAR_058382
    Natural varianti601 – 6011R → Q.1 Publication
    Corresponds to variant rs34324426 [ dbSNP | Ensembl ].
    VAR_058383
    Natural varianti809 – 8091A → V.1 Publication
    Corresponds to variant rs35830695 [ dbSNP | Ensembl ].
    VAR_048114
    Natural varianti812 – 8121R → Q in PBD4A. 1 Publication
    VAR_007918
    Natural varianti812 – 8121R → W in PBD4A; atypical. 1 Publication
    VAR_007919
    Natural varianti849 – 8491N → T in PBD-CG4. 1 Publication
    VAR_058384
    Natural varianti860 – 8601R → Q in PBD-CG4. 1 Publication
    VAR_058385
    Natural varianti860 – 8601R → W in PBD-CG4. 1 Publication
    VAR_058386
    Natural varianti882 – 8821V → I.1 Publication
    Corresponds to variant rs2274516 [ dbSNP | Ensembl ].
    VAR_048115
    Natural varianti924 – 9241A → S.1 Publication
    Corresponds to variant rs34551839 [ dbSNP | Ensembl ].
    VAR_058387
    Natural varianti939 – 9391P → Q.2 Publications
    Corresponds to variant rs1129187 [ dbSNP | Ensembl ].
    VAR_048116

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U56602 Genomic DNA. Translation: AAC50655.1.
    D83703 mRNA. Translation: BAA12069.1.
    AF108098
    , AF108095, AF108096, AF108097 Genomic DNA. Translation: AAF62564.1.
    AB051076 mRNA. Translation: BAB83046.1.
    AK314237 mRNA. Translation: BAG36906.1.
    CH471081 Genomic DNA. Translation: EAX04125.1.
    BC048331 mRNA. Translation: AAH48331.1.
    CCDSiCCDS4877.1.
    PIRiS71090.
    RefSeqiNP_000278.3. NM_000287.3.
    UniGeneiHs.656425.

    Genome annotation databases

    EnsembliENST00000304611; ENSP00000303511; ENSG00000124587.
    GeneIDi5190.
    KEGGihsa:5190.
    UCSCiuc003otf.3. human.

    Polymorphism databases

    DMDMi12644408.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    dbPEX, PEX Gene Database

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U56602 Genomic DNA. Translation: AAC50655.1 .
    D83703 mRNA. Translation: BAA12069.1 .
    AF108098
    , AF108095 , AF108096 , AF108097 Genomic DNA. Translation: AAF62564.1 .
    AB051076 mRNA. Translation: BAB83046.1 .
    AK314237 mRNA. Translation: BAG36906.1 .
    CH471081 Genomic DNA. Translation: EAX04125.1 .
    BC048331 mRNA. Translation: AAH48331.1 .
    CCDSi CCDS4877.1.
    PIRi S71090.
    RefSeqi NP_000278.3. NM_000287.3.
    UniGenei Hs.656425.

    3D structure databases

    ProteinModelPortali Q13608.
    SMRi Q13608. Positions 435-971.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111213. 7 interactions.
    IntActi Q13608. 6 interactions.
    MINTi MINT-1183928.
    STRINGi 9606.ENSP00000303511.

    Protein family/group databases

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

    PTM databases

    PhosphoSitei Q13608.

    Polymorphism databases

    DMDMi 12644408.

    Proteomic databases

    MaxQBi Q13608.
    PaxDbi Q13608.
    PRIDEi Q13608.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000304611 ; ENSP00000303511 ; ENSG00000124587 .
    GeneIDi 5190.
    KEGGi hsa:5190.
    UCSCi uc003otf.3. human.

    Organism-specific databases

    CTDi 5190.
    GeneCardsi GC06M042978.
    GeneReviewsi PEX6.
    HGNCi HGNC:8859. PEX6.
    HPAi HPA025924.
    MIMi 601498. gene.
    614862. phenotype.
    614863. phenotype.
    neXtProti NX_Q13608.
    Orphaneti 772. Infantile Refsum disease.
    44. Neonatal adrenoleukodystrophy.
    912. Zellweger syndrome.
    PharmGKBi PA33201.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0464.
    HOGENOMi HOG000241031.
    HOVERGENi HBG002311.
    InParanoidi Q13608.
    KOi K13339.
    OMAi WHDVGGL.
    OrthoDBi EOG74J979.
    PhylomeDBi Q13608.
    TreeFami TF106428.

    Miscellaneous databases

    GeneWikii PEX6.
    GenomeRNAii 5190.
    NextBioi 20072.
    PROi Q13608.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q13608.
    Bgeei Q13608.
    CleanExi HS_PEX6.
    Genevestigatori Q13608.

    Family and domain databases

    Gene3Di 3.40.50.300. 2 hits.
    InterProi IPR003593. AAA+_ATPase.
    IPR003959. ATPase_AAA_core.
    IPR003960. ATPase_AAA_CS.
    IPR027417. P-loop_NTPase.
    [Graphical view ]
    Pfami PF00004. AAA. 2 hits.
    [Graphical view ]
    SMARTi SM00382. AAA. 2 hits.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 2 hits.
    PROSITEi PS00674. AAA. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor."
      Yahraus T., Braverman N., Dodt G., Kalish J.E., Morrell J.C., Moser H.W., Valle D., Gould S.J.
      EMBO J. 15:2914-2923(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], INVOLVEMENT IN PBD4A.
    2. "Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans."
      Fukuda S., Shimozawa N., Suzuki Y., Zhang Z., Tomatsu S., Tsukamoto T., Hashiguchi N., Osumi T., Masuno M., Imaizumi K., Kuroki Y., Fujiki Y., Orii T., Kondo N.
      Am. J. Hum. Genet. 59:1210-1220(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    3. "Genomic structure and identification of 11 novel mutations of the PEX6 'peroxisome assembly factor-2' gene in patients with peroxisome biogenesis disorders."
      Zhang Z., Suzuki Y., Shimozawa N., Fukuda S., Imamura A., Tsukamoto T., Osumi T., Fujiki Y., Orii T., Wanders R.J.A., Barth P.G., Moser H.W., Paton B.C., Besley G.T., Kondo N.
      Hum. Mutat. 13:487-496(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS PBD4A GLN-812 AND TRP-812.
    4. "The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6."
      Matsumoto N., Tamura S., Moser A., Moser H.W., Braverman N., Suzuki Y., Shimozawa N., Kondo N., Fujiki Y.
      J. Hum. Genet. 46:273-277(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT GLN-939, INVOLVEMENT IN PBD4B.
    5. "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].
      Tissue: Synovium.
    6. 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].
      Tissue: Colon.
    8. "The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes."
      Matsumoto N., Tamura S., Fujiki Y.
      Nat. Cell Biol. 5:454-460(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PEX26 AND PEX1.
    9. "AWP1/ZFAND6 functions in Pex5 export by interacting with cys-monoubiquitinated Pex5 and Pex6 AAA ATPase."
      Miyata N., Okumoto K., Mukai S., Noguchi M., Fujiki Y.
      Traffic 13:168-183(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH ZFAND6.
    10. "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-CG4 LEU-274; THR-849; GLN-860 AND TRP-860, VARIANTS PRO-79; GLN-601; VAL-809; ILE-882; SER-924 AND GLN-939.

    Entry informationi

    Entry nameiPEX6_HUMAN
    AccessioniPrimary (citable) accession number: Q13608
    Secondary accession number(s): Q5T8W1, Q8WYQ2, Q99476
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: December 8, 2000
    Last modified: October 1, 2014
    This is version 135 of the entry and version 2 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 6
      Human chromosome 6: 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