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)

P28288

- ABCD3_HUMAN

UniProt

P28288 - ABCD3_HUMAN

Protein

ATP-binding cassette sub-family D member 3

Gene

ABCD3

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 153 (01 Oct 2014)
      Sequence version 1 (01 Dec 1992)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Probable transporter. The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity.1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi473 – 4808ATPPROSITE-ProRule annotation

    GO - Molecular functioni

    1. ATPase activity Source: UniProtKB
    2. ATPase activity, coupled to transmembrane movement of substances Source: InterPro
    3. ATP binding Source: UniProtKB
    4. protein binding Source: UniProtKB
    5. protein homodimerization activity Source: UniProtKB

    GO - Biological processi

    1. ATP catabolic process Source: GOC
    2. fatty acid beta-oxidation Source: UniProtKB
    3. peroxisome organization Source: UniProtKB
    4. transmembrane transport Source: Reactome
    5. very long-chain fatty acid catabolic process Source: UniProtKB

    Keywords - Biological processi

    Transport

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_111158. ABCA transporters in lipid homeostasis.

    Protein family/group databases

    TCDBi3.A.1.203.1. the atp-binding cassette (abc) superfamily.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    ATP-binding cassette sub-family D member 3
    Alternative name(s):
    70 kDa peroxisomal membrane protein
    Short name:
    PMP70
    Gene namesi
    Name:ABCD3
    Synonyms:PMP70, PXMP1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:67. ABCD3.

    Subcellular locationi

    Peroxisome membrane 1 Publication; Multi-pass membrane protein 1 PublicationPROSITE-ProRule annotation

    GO - Cellular componenti

    1. cytosol Source: Reactome
    2. integral component of membrane Source: UniProtKB-KW
    3. intracellular membrane-bounded organelle Source: HPA
    4. membrane Source: UniProtKB
    5. mitochondrial inner membrane Source: Ensembl
    6. peroxisomal matrix Source: UniProtKB
    7. peroxisomal membrane Source: UniProtKB
    8. peroxisome Source: UniProtKB

    Keywords - Cellular componenti

    Membrane, Peroxisome

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi478 – 4781G → R: Decreased ATP-binding affinity. 1 Publication
    Mutagenesisi572 – 5721S → I: Decreased ATPase activity. 1 Publication

    Organism-specific databases

    PharmGKBiPA24402.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11RemovedBy similarity
    Chaini2 – 659658ATP-binding cassette sub-family D member 3PRO_0000093309Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi12 – 121N-linked (GlcNAc...)Sequence Analysis
    Modified residuei61 – 611N6-acetyllysineBy similarity
    Glycosylationi106 – 1061N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi206 – 2061N-linked (GlcNAc...)Sequence Analysis
    Modified residuei260 – 2601N6-acetyllysine1 Publication
    Modified residuei399 – 3991N6-acetyllysine1 Publication
    Modified residuei533 – 5331N6-acetyllysineBy similarity
    Modified residuei659 – 6591PhosphoserineBy similarity

    Keywords - PTMi

    Acetylation, Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiP28288.
    PaxDbiP28288.
    PeptideAtlasiP28288.
    PRIDEiP28288.

    PTM databases

    PhosphoSiteiP28288.

    Expressioni

    Gene expression databases

    ArrayExpressiP28288.
    BgeeiP28288.
    CleanExiHS_ABCD3.
    GenevestigatoriP28288.

    Organism-specific databases

    HPAiHPA032026.
    HPA032027.

    Interactioni

    Subunit structurei

    Can form heterodimers with ABCD1/ALD and ABCD2/ALDR. Dimerization is necessary to form an active transporter. Interacts with PEX19.3 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ABCD1P338972EBI-80992,EBI-81045
    PEX19P408554EBI-80992,EBI-594747

    Protein-protein interaction databases

    BioGridi111783. 41 interactions.
    IntActiP28288. 12 interactions.
    MINTiMINT-3010926.
    STRINGi9606.ENSP00000359233.

    Structurei

    3D structure databases

    ProteinModelPortaliP28288.
    SMRiP28288. Positions 427-640.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei84 – 10421HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei126 – 14621HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei224 – 24421HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei313 – 33321HelicalPROSITE-ProRule annotationAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini85 – 372288ABC transmembrane type-1PROSITE-ProRule annotationAdd
    BLAST
    Domaini440 – 659220ABC transporterPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni2 – 199198Interaction with PEX19Add
    BLAST
    Regioni2 – 124123Targeting to peroxisomesAdd
    BLAST

    Sequence similaritiesi

    Contains 1 ABC transmembrane type-1 domain.PROSITE-ProRule annotation
    Contains 1 ABC transporter domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG4178.
    HOGENOMiHOG000206081.
    HOVERGENiHBG050438.
    InParanoidiP28288.
    KOiK05677.
    OrthoDBiEOG70ZZMP.
    PhylomeDBiP28288.
    TreeFamiTF105205.

    Family and domain databases

    Gene3Di3.40.50.300. 1 hit.
    InterProiIPR003593. AAA+_ATPase.
    IPR011527. ABC1_TM_dom.
    IPR010509. ABC_Peroxi_TM.
    IPR003439. ABC_transporter-like.
    IPR017871. ABC_transporter_CS.
    IPR005283. FA_transporter.
    IPR027417. P-loop_NTPase.
    [Graphical view]
    PfamiPF06472. ABC_membrane_2. 1 hit.
    PF00005. ABC_tran. 1 hit.
    [Graphical view]
    SMARTiSM00382. AAA. 1 hit.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 1 hit.
    SSF90123. SSF90123. 1 hit.
    TIGRFAMsiTIGR00954. 3a01203. 1 hit.
    PROSITEiPS50929. ABC_TM1F. 1 hit.
    PS00211. ABC_TRANSPORTER_1. 1 hit.
    PS50893. ABC_TRANSPORTER_2. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

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

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P28288-1) [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

    MAAFSKYLTA RNSSLAGAAF LLLCLLHKRR RALGLHGKKS GKPPLQNNEK    50
    EGKKERAVVD KVFFSRLIQI LKIMVPRTFC KETGYLVLIA VMLVSRTYCD 100
    VWMIQNGTLI ESGIIGRSRK DFKRYLLNFI AAMPLISLVN NFLKYGLNEL 150
    KLCFRVRLTK YLYEEYLQAF TYYKMGNLDN RIANPDQLLT QDVEKFCNSV 200
    VDLYSNLSKP FLDIVLYIFK LTSAIGAQGP ASMMAYLVVS GLFLTRLRRP 250
    IGKMTITEQK YEGEYRYVNS RLITNSEEIA FYNGNKREKQ TVHSVFRKLV 300
    EHLHNFILFR FSMGFIDSII AKYLATVVGY LVVSRPFLDL SHPRHLKSTH 350
    SELLEDYYQS GRMLLRMSQA LGRIVLAGRE MTRLAGFTAR ITELMQVLKD 400
    LNHGKYERTM VSQQEKGIEG VQVIPLIPGA GEIIIADNII KFDHVPLATP 450
    NGDVLIRDLN FEVRSGANVL ICGPNGCGKS SLFRVLGELW PLFGGRLTKP 500
    ERGKLFYVPQ RPYMTLGTLR DQVIYPDGRE DQKRKGISDL VLKEYLDNVQ 550
    LGHILEREGG WDSVQDWMDV LSGGEKQRMA MARLFYHKPQ FAILDECTSA 600
    VSVDVEGYIY SHCRKVGITL FTVSHRKSLW KHHEYYLHMD GRGNYEFKQI 650
    TEDTVEFGS 659
    Length:659
    Mass (Da):75,476
    Last modified:December 1, 1992 - v1
    Checksum:i2CA976FEB6EB6217
    GO
    Isoform 2 (identifier: P28288-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         277-386: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:549
    Mass (Da):62,726
    Checksum:i1E0139B8A2EEB7E9
    GO
    Isoform 3 (identifier: P28288-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         229-236: GPASMMAY → VLGKILWH
         237-659: Missing.

    Show »
    Length:236
    Mass (Da):27,121
    Checksum:i314231AA2705E8AB
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti175 – 1751M → K in CAA41416. (PubMed:1536884)Curated
    Sequence conflicti191 – 1922QD → LV in CAA58470. (PubMed:9521874)Curated
    Sequence conflicti336 – 3361P → L in CAA58470. (PubMed:9521874)Curated
    Sequence conflicti503 – 5031G → R in CAA41416. (PubMed:1536884)Curated
    Sequence conflicti542 – 5421L → Q in CAA41416. (PubMed:1536884)Curated
    Sequence conflicti616 – 63419VGITL…WKHHE → GWHHSLHLCLIGNLFGNIMR in CAA58470. (PubMed:9521874)CuratedAdd
    BLAST

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti17 – 171G → D in a patient with Zellweger syndrome. 1 Publication
    VAR_000091

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei229 – 2368GPASMMAY → VLGKILWH in isoform 3. 2 PublicationsVSP_031187
    Alternative sequencei237 – 659423Missing in isoform 3. 2 PublicationsVSP_031188Add
    BLAST
    Alternative sequencei277 – 386110Missing in isoform 2. 1 PublicationVSP_031189Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M81182 mRNA. Translation: AAA60128.1.
    X58528 mRNA. Translation: CAA41416.1.
    X83467
    , X83468, X83469, X83470, X83471, X83472, X83473, X83474, X83475, X83476, X83477, X83478, X83479, X83480, X83481, X83482, X83483, X83484, X83485, X83486, X83487, X83488, X83489 Genomic DNA. Translation: CAA58470.1.
    BT006644 mRNA. Translation: AAP35290.1.
    AL138758, AC093117, AC118469 Genomic DNA. Translation: CAC15960.2.
    CH471097 Genomic DNA. Translation: EAW73049.1.
    CH471097 Genomic DNA. Translation: EAW73050.1.
    CH471097 Genomic DNA. Translation: EAW73047.1.
    CH471097 Genomic DNA. Translation: EAW73048.1.
    BC009712 mRNA. Translation: AAH09712.1.
    BC068509 mRNA. Translation: AAH68509.1.
    CCDSiCCDS44175.1. [P28288-3]
    CCDS749.1. [P28288-1]
    PIRiS20313.
    RefSeqiNP_001116146.1. NM_001122674.1. [P28288-3]
    NP_002849.1. NM_002858.3. [P28288-1]
    UniGeneiHs.700576.

    Genome annotation databases

    EnsembliENST00000315713; ENSP00000326880; ENSG00000117528. [P28288-3]
    ENST00000370214; ENSP00000359233; ENSG00000117528. [P28288-1]
    GeneIDi5825.
    KEGGihsa:5825.
    UCSCiuc001dqm.4. human. [P28288-3]
    uc001dqn.4. human. [P28288-1]
    uc009wdr.3. human. [P28288-2]

    Polymorphism databases

    DMDMi130358.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    ABCMdb

    Database for mutations in ABC proteins

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M81182 mRNA. Translation: AAA60128.1 .
    X58528 mRNA. Translation: CAA41416.1 .
    X83467
    , X83468 , X83469 , X83470 , X83471 , X83472 , X83473 , X83474 , X83475 , X83476 , X83477 , X83478 , X83479 , X83480 , X83481 , X83482 , X83483 , X83484 , X83485 , X83486 , X83487 , X83488 , X83489 Genomic DNA. Translation: CAA58470.1 .
    BT006644 mRNA. Translation: AAP35290.1 .
    AL138758 , AC093117 , AC118469 Genomic DNA. Translation: CAC15960.2 .
    CH471097 Genomic DNA. Translation: EAW73049.1 .
    CH471097 Genomic DNA. Translation: EAW73050.1 .
    CH471097 Genomic DNA. Translation: EAW73047.1 .
    CH471097 Genomic DNA. Translation: EAW73048.1 .
    BC009712 mRNA. Translation: AAH09712.1 .
    BC068509 mRNA. Translation: AAH68509.1 .
    CCDSi CCDS44175.1. [P28288-3 ]
    CCDS749.1. [P28288-1 ]
    PIRi S20313.
    RefSeqi NP_001116146.1. NM_001122674.1. [P28288-3 ]
    NP_002849.1. NM_002858.3. [P28288-1 ]
    UniGenei Hs.700576.

    3D structure databases

    ProteinModelPortali P28288.
    SMRi P28288. Positions 427-640.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111783. 41 interactions.
    IntActi P28288. 12 interactions.
    MINTi MINT-3010926.
    STRINGi 9606.ENSP00000359233.

    Protein family/group databases

    TCDBi 3.A.1.203.1. the atp-binding cassette (abc) superfamily.

    PTM databases

    PhosphoSitei P28288.

    Polymorphism databases

    DMDMi 130358.

    Proteomic databases

    MaxQBi P28288.
    PaxDbi P28288.
    PeptideAtlasi P28288.
    PRIDEi P28288.

    Protocols and materials databases

    DNASUi 5825.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000315713 ; ENSP00000326880 ; ENSG00000117528 . [P28288-3 ]
    ENST00000370214 ; ENSP00000359233 ; ENSG00000117528 . [P28288-1 ]
    GeneIDi 5825.
    KEGGi hsa:5825.
    UCSCi uc001dqm.4. human. [P28288-3 ]
    uc001dqn.4. human. [P28288-1 ]
    uc009wdr.3. human. [P28288-2 ]

    Organism-specific databases

    CTDi 5825.
    GeneCardsi GC01P094883.
    HGNCi HGNC:67. ABCD3.
    HPAi HPA032026.
    HPA032027.
    MIMi 170995. gene.
    neXtProti NX_P28288.
    PharmGKBi PA24402.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG4178.
    HOGENOMi HOG000206081.
    HOVERGENi HBG050438.
    InParanoidi P28288.
    KOi K05677.
    OrthoDBi EOG70ZZMP.
    PhylomeDBi P28288.
    TreeFami TF105205.

    Enzyme and pathway databases

    Reactomei REACT_111158. ABCA transporters in lipid homeostasis.

    Miscellaneous databases

    ChiTaRSi ABCD3. human.
    GeneWikii ABCD3.
    GenomeRNAii 5825.
    NextBioi 22689.
    PROi P28288.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P28288.
    Bgeei P28288.
    CleanExi HS_ABCD3.
    Genevestigatori P28288.

    Family and domain databases

    Gene3Di 3.40.50.300. 1 hit.
    InterProi IPR003593. AAA+_ATPase.
    IPR011527. ABC1_TM_dom.
    IPR010509. ABC_Peroxi_TM.
    IPR003439. ABC_transporter-like.
    IPR017871. ABC_transporter_CS.
    IPR005283. FA_transporter.
    IPR027417. P-loop_NTPase.
    [Graphical view ]
    Pfami PF06472. ABC_membrane_2. 1 hit.
    PF00005. ABC_tran. 1 hit.
    [Graphical view ]
    SMARTi SM00382. AAA. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 1 hit.
    SSF90123. SSF90123. 1 hit.
    TIGRFAMsi TIGR00954. 3a01203. 1 hit.
    PROSITEi PS50929. ABC_TM1F. 1 hit.
    PS00211. ABC_TRANSPORTER_1. 1 hit.
    PS50893. ABC_TRANSPORTER_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome."
      Gaertner J., Moser H., Valle D.
      Nat. Genet. 1:16-23(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ASP-17.
      Tissue: Liver.
    2. "Nucleotide sequence of the human 70 kDa peroxisomal membrane protein: a member of ATP-binding cassette transporters."
      Kamijo K., Kamijo T., Ueno I., Osumi T., Hashimoto T.
      Biochim. Biophys. Acta 1129:323-327(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Liver.
    3. "Genomic organization of the 70-kDa peroxisomal membrane protein gene (PXMP1)."
      Gaertner J., Jimenez-Sanchez G., Roerig P., Valle D.
      Genomics 48:203-208(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    4. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    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.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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] (ISOFORMS 2 AND 3).
      Tissue: Brain and Lung.
    8. "Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters."
      Liu L.X., Janvier K., Berteaux-Lecellier V., Cartier N., Benarous R., Aubourg P.
      J. Biol. Chem. 274:32738-32743(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBUNIT.
    9. "Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p."
      Gloeckner C.J., Mayerhofer P.U., Landgraf P., Muntau A.C., Holzinger A., Gerber J.-K., Kammerer S., Adamski J., Roscher A.A.
      Biochem. Biophys. Res. Commun. 271:144-150(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PEX19.
      Tissue: Brain.
    10. "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: SUBCELLULAR LOCATION, INTERACTION WITH PEX19.
    11. "Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters."
      Roerig P., Mayerhofer P., Holzinger A., Gaertner J.
      FEBS Lett. 492:66-72(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, MUTAGENESIS OF GLY-478 AND SER-572.
    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-260 AND LYS-399, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    13. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    14. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiABCD3_HUMAN
    AccessioniPrimary (citable) accession number: P28288
    Secondary accession number(s): D3DT46
    , Q15271, Q6NUN5, Q96DA3, Q9H529
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 1992
    Last sequence update: December 1, 1992
    Last modified: October 1, 2014
    This is version 153 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

    Miscellaneous

    Mutation in ABCD3 have been found in two individuals affected by Zellweger syndrome. However, the role of ABCD3 in the causation of Zellweger syndrome remains uncertain.

    Keywords - Technical termi

    Complete proteome, 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3