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Q9UBJ2

- ABCD2_HUMAN

UniProt

Q9UBJ2 - ABCD2_HUMAN

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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

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 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
Complete GO annotation...

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
Complete GO annotation...

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. 2 interactions.
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.
GeneTreeiENSGT00390000003950.
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

        10         20         30         40         50
MTHMLNAAAD RVKWTRSSAA KRAACLVAAA YALKTLYPII GKRLKQSGHG
60 70 80 90 100
KKKAAAYPAA ENTEILHCTE TICEKPSPGV NADFFKQLLE LRKILFPKLV
110 120 130 140 150
TTETGWLCLH SVALISRTFL SIYVAGLDGK IVKSIVEKKP RTFIIKLIKW
160 170 180 190 200
LMIAIPATFV NSAIRYLECK LALAFRTRLV DHAYETYFTN QTYYKVINMD
210 220 230 240 250
GRLANPDQSL TEDIMMFSQS VAHLYSNLTK PILDVMLTSY TLIQTATSRG
260 270 280 290 300
ASPIGPTLLA GLVVYATAKV LKACSPKFGK LVAEEAHRKG YLRYVHSRII
310 320 330 340 350
ANVEEIAFYR GHKVEMKQLQ KSYKALADQM NLILSKRLWY IMIEQFLMKY
360 370 380 390 400
VWSSSGLIMV AIPIITATGF ADGEDGQKQV MVSERTEAFT TARNLLASGA
410 420 430 440 450
DAIERIMSSY KEVTELAGYT ARVYNMFWVF DEVKRGIYKR TAVIQESESH
460 470 480 490 500
SKNGAKVELP LSDTLAIKGK VIDVDHGIIC ENVPIITPAG EVVASRLNFK
510 520 530 540 550
VEEGMHLLIT GPNGCGKSSL FRILSGLWPV YEGVLYKPPP QHMFYIPQRP
560 570 580 590 600
YMSLGSLRDQ VIYPDSVDDM HDKGYTDQDL ERILHNVHLY HIVQREGGWD
610 620 630 640 650
AVMDWKDVLS GGEKQRMGMA RMFYHKPKYA LLDECTSAVS IDVEGKIFQA
660 670 680 690 700
AKGAGISLLS ITHRPSLWKY HTHLLQFDGE GGWRFEQLDT AIRLTLSEEK
710 720 730 740
QKLESQLAGI PKMQQRLNEL CKILGEDSVL KTIKNEDETS
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. 2 interactions.
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.
GeneTreei ENSGT00390000003950.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 132 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