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Protein

ATP-binding cassette sub-family D member 2

Gene

ABCD2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Probable transporter.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi511 – 518ATPPROSITE-ProRule annotation8

GO - Molecular functioni

GO - Biological processi

  • fatty acid beta-oxidation Source: UniProtKB
  • positive regulation of fatty acid beta-oxidation Source: UniProtKB
  • transmembrane transport Source: Reactome
  • very long-chain fatty acid catabolic process Source: UniProtKB
  • very long-chain fatty acid metabolic process Source: UniProtKB

Keywordsi

Biological processTransport
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-1369062 ABC 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
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000173208.3
HGNCiHGNC:66 ABCD2
MIMi601081 gene
neXtProtiNX_Q9UBJ2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei107 – 127HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei144 – 164HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei251 – 271HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei351 – 371HelicalPROSITE-ProRule annotationAdd BLAST21

Keywords - Cellular componenti

Membrane, Peroxisome

Pathology & Biotechi

Organism-specific databases

DisGeNETi225
OpenTargetsiENSG00000173208
PharmGKBiPA24401

Polymorphism and mutation databases

BioMutaiABCD2
DMDMi12643305

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000933061 – 740ATP-binding cassette sub-family D member 2Add BLAST740

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi190N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi227N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ9UBJ2
MaxQBiQ9UBJ2
PaxDbiQ9UBJ2
PeptideAtlasiQ9UBJ2
PRIDEiQ9UBJ2
ProteomicsDBi83977

PTM databases

iPTMnetiQ9UBJ2
PhosphoSitePlusiQ9UBJ2

Expressioni

Tissue specificityi

Predominantly expressed in brain and heart.

Gene expression databases

BgeeiENSG00000173208
CleanExiHS_ABCD2
GenevisibleiQ9UBJ2 HS

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

GO - Molecular functioni

  • protein homodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi106727, 5 interactors
IntActiQ9UBJ2, 2 interactors
STRINGi9606.ENSP00000310688

Structurei

3D structure databases

ProteinModelPortaliQ9UBJ2
SMRiQ9UBJ2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini107 – 399ABC transmembrane type-1PROSITE-ProRule annotationAdd BLAST293
Domaini478 – 704ABC transporterPROSITE-ProRule annotationAdd BLAST227

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 218Interaction with PEX19Add BLAST218

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0064 Eukaryota
COG4178 LUCA
GeneTreeiENSGT00390000003950
HOGENOMiHOG000206081
HOVERGENiHBG050438
InParanoidiQ9UBJ2
KOiK05676
OMAiAGGRLMY
OrthoDBiEOG091G04M1
PhylomeDBiQ9UBJ2
TreeFamiTF105205

Family and domain databases

InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR011527 ABC1_TM_dom
IPR036640 ABC1_TM_sf
IPR003439 ABC_transporter-like
IPR017871 ABC_transporter_CS
IPR031239 ABCD2
IPR027417 P-loop_NTPase
PANTHERiPTHR11384:SF24 PTHR11384:SF24, 1 hit
PfamiView protein in Pfam
PF06472 ABC_membrane_2, 1 hit
PF00005 ABC_tran, 1 hit
SMARTiView protein in SMART
SM00382 AAA, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
SSF90123 SSF90123, 1 hit
PROSITEiView protein in PROSITE
PS50929 ABC_TM1F, 1 hit
PS00211 ABC_TRANSPORTER_1, 1 hit
PS50893 ABC_TRANSPORTER_2, 1 hit

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)DescriptionActionsGraphical viewLength
Sequence conflicti18S → G in AAB00541 (PubMed:8577752).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_062664244Q → K in a pancreatic ductal adenocarcinoma sample; somatic mutation. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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
XP_011536329.1, XM_011538027.2
UniGeneiHs.117852

Genome annotation databases

EnsembliENST00000308666; ENSP00000310688; ENSG00000173208
GeneIDi225
KEGGihsa:225
UCSCiuc001rmb.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiABCD2_HUMAN
AccessioniPrimary (citable) accession number: Q9UBJ2
Secondary accession number(s): B2RAM3, Q13210, Q2M3H9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: May 1, 2000
Last modified: June 20, 2018
This is version 159 of the entry and version 1 of the sequence. See 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

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