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Q9UBJ2 (ABCD2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 129. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
ATP-binding cassette sub-family D member 2
Alternative name(s):
Adrenoleukodystrophy-like 1
Adrenoleukodystrophy-related protein
Short name=hALDR
Gene names
Name:ABCD2
Synonyms:ALD1, ALDL1, ALDR, ALDRP
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length740 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Probable transporter.

Subunit structure

Can form heterodimers with ABCD1/ALD and ABCD3/PMP70. Dimerization is necessary to form an active transporter. Interacts with PEX19. Ref.7 Ref.8 Ref.9

Subcellular location

Peroxisome membrane; Multi-pass membrane protein.

Tissue specificity

Predominantly expressed in brain and heart.

Sequence similarities

Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily. [View classification]

Contains 1 ABC transmembrane type-1 domain.

Contains 1 ABC transporter domain.

Ontologies

Keywords
   Biological processTransport
   Cellular componentMembrane
Peroxisome
   Coding sequence diversityPolymorphism
   DomainTransmembrane
Transmembrane helix
   LigandATP-binding
Nucleotide-binding
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processfatty acid beta-oxidation

Inferred from genetic interaction PubMed 21145416. Source: UniProtKB

positive regulation of fatty acid beta-oxidation

Inferred from direct assay PubMed 10196381. Source: UniProtKB

transmembrane transport

Traceable author statement. Source: Reactome

very long-chain fatty acid catabolic process

Inferred from genetic interaction PubMed 21145416. Source: UniProtKB

very long-chain fatty acid metabolic process

Inferred from direct assay PubMed 10196381. Source: UniProtKB

   Cellular_componentcytosol

Traceable author statement. Source: Reactome

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

intracellular membrane-bounded organelle

Inferred from direct assay. Source: HPA

mitochondrion

Inferred from electronic annotation. Source: Ensembl

peroxisomal membrane

Traceable author statement. Source: Reactome

peroxisome

Inferred from direct assay PubMed 10196381Ref.3PubMed 21145416. Source: UniProtKB

   Molecular_functionATP binding

Inferred from electronic annotation. Source: UniProtKB-KW

ATPase activity, coupled to transmembrane movement of substances

Inferred from electronic annotation. Source: InterPro

protein binding

Inferred from physical interaction Ref.9Ref.8PubMed 11883941. Source: UniProtKB

protein homodimerization activity

Inferred from direct assay PubMed 21145416. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 740740ATP-binding cassette sub-family D member 2
PRO_0000093306

Regions

Transmembrane107 – 12721Helical; Potential
Transmembrane144 – 16421Helical; Potential
Transmembrane251 – 27121Helical; Potential
Transmembrane351 – 37121Helical; Potential
Domain107 – 399293ABC transmembrane type-1
Domain478 – 704227ABC transporter
Nucleotide binding511 – 5188ATP Potential
Region1 – 218218Interaction with PEX19

Amino acid modifications

Glycosylation1901N-linked (GlcNAc...) Potential
Glycosylation2271N-linked (GlcNAc...) Potential

Natural variations

Natural variant2441Q → K in a pancreatic ductal adenocarcinoma sample; somatic mutation. Ref.10
VAR_062664

Experimental info

Sequence conflict181S → G in AAB00541. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q9UBJ2 [UniParc].

Last modified May 1, 2000. Version 1.
Checksum: 9F3C8DBB8AB156E3

FASTA74083,233
        10         20         30         40         50         60 
MTHMLNAAAD RVKWTRSSAA KRAACLVAAA YALKTLYPII GKRLKQSGHG KKKAAAYPAA 

        70         80         90        100        110        120 
ENTEILHCTE TICEKPSPGV NADFFKQLLE LRKILFPKLV TTETGWLCLH SVALISRTFL 

       130        140        150        160        170        180 
SIYVAGLDGK IVKSIVEKKP RTFIIKLIKW LMIAIPATFV NSAIRYLECK LALAFRTRLV 

       190        200        210        220        230        240 
DHAYETYFTN QTYYKVINMD GRLANPDQSL TEDIMMFSQS VAHLYSNLTK PILDVMLTSY 

       250        260        270        280        290        300 
TLIQTATSRG ASPIGPTLLA GLVVYATAKV LKACSPKFGK LVAEEAHRKG YLRYVHSRII 

       310        320        330        340        350        360 
ANVEEIAFYR GHKVEMKQLQ KSYKALADQM NLILSKRLWY IMIEQFLMKY VWSSSGLIMV 

       370        380        390        400        410        420 
AIPIITATGF ADGEDGQKQV MVSERTEAFT TARNLLASGA DAIERIMSSY KEVTELAGYT 

       430        440        450        460        470        480 
ARVYNMFWVF DEVKRGIYKR TAVIQESESH SKNGAKVELP LSDTLAIKGK VIDVDHGIIC 

       490        500        510        520        530        540 
ENVPIITPAG EVVASRLNFK VEEGMHLLIT GPNGCGKSSL FRILSGLWPV YEGVLYKPPP 

       550        560        570        580        590        600 
QHMFYIPQRP YMSLGSLRDQ VIYPDSVDDM HDKGYTDQDL ERILHNVHLY HIVQREGGWD 

       610        620        630        640        650        660 
AVMDWKDVLS GGEKQRMGMA RMFYHKPKYA LLDECTSAVS IDVEGKIFQA AKGAGISLLS 

       670        680        690        700        710        720 
ITHRPSLWKY HTHLLQFDGE GGWRFEQLDT AIRLTLSEEK QKLESQLAGI PKMQQRLNEL 

       730        740 
CKILGEDSVL KTIKNEDETS 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"Core signaling pathways in human pancreatic cancers revealed by global genomic analyses."
Jones S., Zhang X., Parsons D.W., Lin J.C., Leary R.J., Angenendt P., Mankoo P., Carter H., Kamiyama H., Jimeno A., Hong S.M., Fu B., Lin M.T., Calhoun E.S., Kamiyama M., Walter K., Nikolskaya T., Nikolsky Y. expand/collapse author list , Hartigan J., Smith D.R., Hidalgo M., Leach S.D., Klein A.P., Jaffee E.M., Goggins M., Maitra A., Iacobuzio-Donahue C., Eshleman J.R., Kern S.E., Hruban R.H., Karchin R., Papadopoulos N., Parmigiani G., Vogelstein B., Velculescu V.E., Kinzler K.W.
Science 321:1801-1806(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] LYS-244.
+Additional computationally mapped references.

Web resources

ABCMdb

Database for mutations in ABC proteins

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U28150 Genomic DNA. Translation: AAB00541.1.
AJ000327 mRNA. Translation: CAA03994.1.
AF119831 expand/collapse EMBL AC list , 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.
CCDSCCDS8734.1.
PIRJC5712.
RefSeqNP_005155.1. NM_005164.3.
UniGeneHs.117852.

3D structure databases

ProteinModelPortalQ9UBJ2.
SMRQ9UBJ2. Positions 436-705.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid106727. 5 interactions.
IntActQ9UBJ2. 1 interaction.
STRING9606.ENSP00000310688.

Protein family/group databases

TCDB3.A.1.203.7. the atp-binding cassette (abc) superfamily.

PTM databases

PhosphoSiteQ9UBJ2.

Polymorphism databases

DMDM12643305.

Proteomic databases

PaxDbQ9UBJ2.
PRIDEQ9UBJ2.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000308666; ENSP00000310688; ENSG00000173208.
GeneID225.
KEGGhsa:225.
UCSCuc001rmb.2. human.

Organism-specific databases

CTD225.
GeneCardsGC12M039945.
HGNCHGNC:66. ABCD2.
HPAHPA040336.
MIM601081. gene.
neXtProtNX_Q9UBJ2.
PharmGKBPA24401.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG4178.
HOGENOMHOG000206081.
HOVERGENHBG050438.
InParanoidQ9UBJ2.
KOK05676.
OMAYETYFAN.
OrthoDBEOG70ZZMP.
PhylomeDBQ9UBJ2.
TreeFamTF105205.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

BgeeQ9UBJ2.
CleanExHS_ABCD2.
GenevestigatorQ9UBJ2.

Family and domain databases

Gene3D3.40.50.300. 1 hit.
InterProIPR003593. AAA+_ATPase.
IPR011527. ABC1_TM_dom.
IPR010509. ABC_Peroxi_TM.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamPF06472. ABC_membrane_2. 1 hit.
PF00005. ABC_tran. 1 hit.
[Graphical view]
SMARTSM00382. AAA. 1 hit.
[Graphical view]
SUPFAMSSF52540. SSF52540. 1 hit.
SSF90123. SSF90123. 1 hit.
PROSITEPS50929. ABC_TM1F. 1 hit.
PS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiABCD2.
GenomeRNAi225.
NextBio916.
PROQ9UBJ2.
SOURCESearch...

Entry information

Entry nameABCD2_HUMAN
AccessionPrimary (citable) accession number: Q9UBJ2
Secondary accession number(s): B2RAM3, Q13210, Q2M3H9
Entry history
Integrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: May 1, 2000
Last modified: July 9, 2014
This is version 129 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM