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Q9UBJ2

- ABCD2_HUMAN

UniProt

Q9UBJ2 - ABCD2_HUMAN

Protein

ATP-binding cassette sub-family D member 2

Gene

ABCD2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 131 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    Functioni

    Probable transporter.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi511 – 5188ATPPROSITE-ProRule annotation

    GO - Molecular functioni

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

    GO - Biological processi

    1. fatty acid beta-oxidation Source: UniProtKB
    2. positive regulation of fatty acid beta-oxidation Source: UniProtKB
    3. transmembrane transport Source: Reactome
    4. very long-chain fatty acid catabolic process Source: UniProtKB
    5. very long-chain fatty acid metabolic 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.1.203.7. the atp-binding cassette (abc) superfamily.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    ATP-binding cassette sub-family D member 2
    Alternative name(s):
    Adrenoleukodystrophy-like 1
    Adrenoleukodystrophy-related protein
    Short name:
    hALDR
    Gene namesi
    Name:ABCD2
    Synonyms:ALD1, ALDL1, ALDR, ALDRP
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:66. ABCD2.

    Subcellular locationi

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Membrane, Peroxisome

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA24401.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 740740ATP-binding cassette sub-family D member 2PRO_0000093306Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi190 – 1901N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi227 – 2271N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ9UBJ2.
    PRIDEiQ9UBJ2.

    PTM databases

    PhosphoSiteiQ9UBJ2.

    Expressioni

    Tissue specificityi

    Predominantly expressed in brain and heart.

    Gene expression databases

    BgeeiQ9UBJ2.
    CleanExiHS_ABCD2.
    GenevestigatoriQ9UBJ2.

    Organism-specific databases

    HPAiHPA040336.

    Interactioni

    Subunit structurei

    Can form heterodimers with ABCD1/ALD and ABCD3/PMP70. Dimerization is necessary to form an active transporter. Interacts with PEX19.3 Publications

    Protein-protein interaction databases

    BioGridi106727. 5 interactions.
    IntActiQ9UBJ2. 1 interaction.
    STRINGi9606.ENSP00000310688.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UBJ2.
    SMRiQ9UBJ2. Positions 436-705.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei107 – 12721HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei144 – 16421HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei251 – 27121HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei351 – 37121HelicalPROSITE-ProRule annotationAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini107 – 399293ABC transmembrane type-1PROSITE-ProRule annotationAdd
    BLAST
    Domaini478 – 704227ABC transporterPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 218218Interaction with PEX19Add
    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.
    InParanoidiQ9UBJ2.
    KOiK05676.
    OMAiYETYFAN.
    OrthoDBiEOG70ZZMP.
    PhylomeDBiQ9UBJ2.
    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.
    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.
    PROSITEiPS50929. ABC_TM1F. 1 hit.
    PS00211. ABC_TRANSPORTER_1. 1 hit.
    PS50893. ABC_TRANSPORTER_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9UBJ2-1 [UniParc]FASTAAdd to Basket

    « Hide

    MTHMLNAAAD RVKWTRSSAA KRAACLVAAA YALKTLYPII GKRLKQSGHG    50
    KKKAAAYPAA ENTEILHCTE TICEKPSPGV NADFFKQLLE LRKILFPKLV 100
    TTETGWLCLH SVALISRTFL SIYVAGLDGK IVKSIVEKKP RTFIIKLIKW 150
    LMIAIPATFV NSAIRYLECK LALAFRTRLV DHAYETYFTN QTYYKVINMD 200
    GRLANPDQSL TEDIMMFSQS VAHLYSNLTK PILDVMLTSY TLIQTATSRG 250
    ASPIGPTLLA GLVVYATAKV LKACSPKFGK LVAEEAHRKG YLRYVHSRII 300
    ANVEEIAFYR GHKVEMKQLQ KSYKALADQM NLILSKRLWY IMIEQFLMKY 350
    VWSSSGLIMV AIPIITATGF ADGEDGQKQV MVSERTEAFT TARNLLASGA 400
    DAIERIMSSY KEVTELAGYT ARVYNMFWVF DEVKRGIYKR TAVIQESESH 450
    SKNGAKVELP LSDTLAIKGK VIDVDHGIIC ENVPIITPAG EVVASRLNFK 500
    VEEGMHLLIT GPNGCGKSSL FRILSGLWPV YEGVLYKPPP QHMFYIPQRP 550
    YMSLGSLRDQ VIYPDSVDDM HDKGYTDQDL ERILHNVHLY HIVQREGGWD 600
    AVMDWKDVLS GGEKQRMGMA RMFYHKPKYA LLDECTSAVS IDVEGKIFQA 650
    AKGAGISLLS ITHRPSLWKY HTHLLQFDGE GGWRFEQLDT AIRLTLSEEK 700
    QKLESQLAGI PKMQQRLNEL CKILGEDSVL KTIKNEDETS 740
    Length:740
    Mass (Da):83,233
    Last modified:May 1, 2000 - v1
    Checksum:i9F3C8DBB8AB156E3
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti18 – 181S → G in AAB00541. (PubMed:8577752)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti244 – 2441Q → K in a pancreatic ductal adenocarcinoma sample; somatic mutation. 1 Publication
    VAR_062664

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U28150 Genomic DNA. Translation: AAB00541.1.
    AJ000327 mRNA. Translation: CAA03994.1.
    AF119831
    , AF119822, AF119823, AF119824, AF119826, AF119825, AF119827, AF119828, AF119829, AF119830 Genomic DNA. Translation: AAD30439.1.
    AK314254 mRNA. Translation: BAG36920.1.
    CH471111 Genomic DNA. Translation: EAW57807.1.
    BC104901 mRNA. Translation: AAI04902.1.
    BC104903 mRNA. Translation: AAI04904.1.
    CCDSiCCDS8734.1.
    PIRiJC5712.
    RefSeqiNP_005155.1. NM_005164.3.
    UniGeneiHs.117852.

    Genome annotation databases

    EnsembliENST00000308666; ENSP00000310688; ENSG00000173208.
    GeneIDi225.
    KEGGihsa:225.
    UCSCiuc001rmb.2. human.

    Polymorphism databases

    DMDMi12643305.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    ABCMdb

    Database for mutations in ABC proteins

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U28150 Genomic DNA. Translation: AAB00541.1 .
    AJ000327 mRNA. Translation: CAA03994.1 .
    AF119831
    , AF119822 , AF119823 , AF119824 , AF119826 , AF119825 , AF119827 , AF119828 , AF119829 , AF119830 Genomic DNA. Translation: AAD30439.1 .
    AK314254 mRNA. Translation: BAG36920.1 .
    CH471111 Genomic DNA. Translation: EAW57807.1 .
    BC104901 mRNA. Translation: AAI04902.1 .
    BC104903 mRNA. Translation: AAI04904.1 .
    CCDSi CCDS8734.1.
    PIRi JC5712.
    RefSeqi NP_005155.1. NM_005164.3.
    UniGenei Hs.117852.

    3D structure databases

    ProteinModelPortali Q9UBJ2.
    SMRi Q9UBJ2. Positions 436-705.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 106727. 5 interactions.
    IntActi Q9UBJ2. 1 interaction.
    STRINGi 9606.ENSP00000310688.

    Protein family/group databases

    TCDBi 3.A.1.203.7. the atp-binding cassette (abc) superfamily.

    PTM databases

    PhosphoSitei Q9UBJ2.

    Polymorphism databases

    DMDMi 12643305.

    Proteomic databases

    PaxDbi Q9UBJ2.
    PRIDEi Q9UBJ2.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000308666 ; ENSP00000310688 ; ENSG00000173208 .
    GeneIDi 225.
    KEGGi hsa:225.
    UCSCi uc001rmb.2. human.

    Organism-specific databases

    CTDi 225.
    GeneCardsi GC12M039945.
    HGNCi HGNC:66. ABCD2.
    HPAi HPA040336.
    MIMi 601081. gene.
    neXtProti NX_Q9UBJ2.
    PharmGKBi PA24401.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG4178.
    HOGENOMi HOG000206081.
    HOVERGENi HBG050438.
    InParanoidi Q9UBJ2.
    KOi K05676.
    OMAi YETYFAN.
    OrthoDBi EOG70ZZMP.
    PhylomeDBi Q9UBJ2.
    TreeFami TF105205.

    Enzyme and pathway databases

    Reactomei REACT_111158. ABCA transporters in lipid homeostasis.

    Miscellaneous databases

    GeneWikii ABCD2.
    GenomeRNAii 225.
    NextBioi 916.
    PROi Q9UBJ2.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9UBJ2.
    CleanExi HS_ABCD2.
    Genevestigatori Q9UBJ2.

    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.
    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.
    PROSITEi PS50929. ABC_TM1F. 1 hit.
    PS00211. ABC_TRANSPORTER_1. 1 hit.
    PS50893. ABC_TRANSPORTER_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern."
      Lombard-Platet G., Savary S., Sarde C.-O., Mandel J.-L., Chimini G.
      Proc. Natl. Acad. Sci. U.S.A. 93:1265-1269(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. "cDNA cloning and mRNA expression of the human adrenoleukodystrophy related protein (ALDRP), a peroxisomal ABC transporter."
      Holzinger A., Kammerer S., Berger J., Roscher A.A.
      Biochem. Biophys. Res. Commun. 239:261-264(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    3. "Full length cDNA cloning, promoter sequence, and genomic organization of the human adrenoleukodystrophy related (ALDR) gene functionally redundant to the gene responsible for X-linked adrenoleukodystrophy."
      Holzinger A., Mayerhofer P., Berger J., Lichtner P., Kammerer S., Roscher A.A.
      Biochem. Biophys. Res. Commun. 258:436-442(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], CHARACTERIZATION.
    4. "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: Trachea.
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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: Liver.
    7. "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.
    8. "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.
    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. Cited for: VARIANT [LARGE SCALE ANALYSIS] LYS-244.

    Entry informationi

    Entry nameiABCD2_HUMAN
    AccessioniPrimary (citable) accession number: Q9UBJ2
    Secondary accession number(s): B2RAM3, Q13210, Q2M3H9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 24, 2001
    Last sequence update: May 1, 2000
    Last modified: October 1, 2014
    This is version 131 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 12
      Human chromosome 12: 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