UniProtKB - P28288 (ABCD3_HUMAN)
Protein
ATP-binding cassette sub-family D member 3
Gene
ABCD3
Organism
Homo sapiens (Human)
Status
Functioni
Probable transporter involved in the transport of branched-chain fatty acids and C27 bile acids into the peroxisome; the latter function is a crucial step in bile acid biosynthesis (PubMed:25168382). The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity (PubMed:11248239).2 Publications
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.
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 473 – 480 | ATPPROSITE-ProRule annotation | 8 |
GO - Molecular functioni
- ATPase activity Source: UniProtKB
- ATPase-coupled transmembrane transporter activity Source: GO_Central
- ATP binding Source: UniProtKB
- long-chain fatty acid transporter activity Source: GO_Central
- protein homodimerization activity Source: UniProtKB
- protein self-association Source: Ensembl
GO - Biological processi
- fatty acid beta-oxidation Source: UniProtKB
- fatty acid biosynthetic process Source: UniProtKB
- long-chain fatty acid import into peroxisome Source: GO_Central
- peroxisome organization Source: UniProtKB
- response to drug Source: Ensembl
- response to organic cyclic compound Source: Ensembl
- transmembrane transport Source: Reactome
- very long-chain fatty acid catabolic process Source: UniProtKB
Keywordsi
Biological process | Transport |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | P28288 |
Reactomei | R-HSA-1369062, ABC transporters in lipid homeostasis R-HSA-9603798, Class I peroxisomal membrane protein import |
Protein family/group databases
TCDBi | 3.A.1.203.1, the atp-binding cassette (abc) superfamily |
Names & Taxonomyi
Protein namesi | Recommended name: ATP-binding cassette sub-family D member 3Alternative name(s): 70 kDa peroxisomal membrane protein Short name: PMP70 |
Gene namesi | Name:ABCD3 Synonyms:PMP70, PXMP1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:67, ABCD3 |
MIMi | 170995, gene |
neXtProti | NX_P28288 |
VEuPathDBi | HostDB:ENSG00000117528.11 |
Subcellular locationi
Peroxisome
- Peroxisome membrane 1 Publication; Multi-pass membrane protein PROSITE-ProRule annotation1 Publication
Cytosol
- cytosol Source: Reactome
Mitochondrion
- mitochondrion Source: Ensembl
Peroxisome
- peroxisomal matrix Source: UniProtKB
- peroxisomal membrane Source: UniProtKB
- peroxisome Source: UniProtKB
Other locations
- integral component of membrane Source: UniProtKB-KW
- intracellular membrane-bounded organelle Source: HPA
- membrane Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 84 – 104 | HelicalPROSITE-ProRule annotationAdd BLAST | 21 | |
Transmembranei | 126 – 146 | HelicalPROSITE-ProRule annotationAdd BLAST | 21 | |
Transmembranei | 224 – 244 | HelicalPROSITE-ProRule annotationAdd BLAST | 21 | |
Transmembranei | 313 – 333 | HelicalPROSITE-ProRule annotationAdd BLAST | 21 |
Keywords - Cellular componenti
Membrane, PeroxisomePathology & Biotechi
Involvement in diseasei
Congenital bile acid synthesis defect 5 (CBAS5)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by hepatosplenomegaly, hepatic fibrosis, progressive liver failure, and accumulation of peroxisomal C27-bile acid intermediates in plasma.
Related information in OMIMMutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 478 | G → R: Decreased ATP-binding affinity. 1 Publication | 1 | |
Mutagenesisi | 572 | S → I: Decreased ATPase activity. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 5825 |
MalaCardsi | ABCD3 |
MIMi | 616278, phenotype |
OpenTargetsi | ENSG00000117528 |
PharmGKBi | PA24402 |
Miscellaneous databases
Pharosi | P28288, Tbio |
Genetic variation databases
BioMutai | ABCD3 |
DMDMi | 130358 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000093309 | 1 – 659 | ATP-binding cassette sub-family D member 3Add BLAST | 659 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 12 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 61 | N6-acetyllysineBy similarity | 1 | |
Glycosylationi | 106 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 206 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 260 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 399 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 533 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 659 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
Acetylation, Glycoprotein, PhosphoproteinProteomic databases
CPTACi | CPTAC-157 |
EPDi | P28288 |
jPOSTi | P28288 |
MassIVEi | P28288 |
MaxQBi | P28288 |
PaxDbi | P28288 |
PeptideAtlasi | P28288 |
PRIDEi | P28288 |
ProteomicsDBi | 54454 [P28288-1] 54455 [P28288-2] 54456 [P28288-3] |
PTM databases
GlyGeni | P28288, 3 sites |
iPTMneti | P28288 |
MetOSitei | P28288 |
PhosphoSitePlusi | P28288 |
SwissPalmi | P28288 |
Expressioni
Gene expression databases
Bgeei | ENSG00000117528, Expressed in secondary oocyte and 252 other tissues |
ExpressionAtlasi | P28288, baseline and differential |
Genevisiblei | P28288, HS |
Organism-specific databases
HPAi | ENSG00000117528, Low tissue specificity |
Interactioni
Subunit structurei
Can form heterodimers with ABCD1/ALD and ABCD2/ALDR. Dimerization is necessary to form an active transporter.
Interacts with PEX19.
3 PublicationsBinary interactionsi
Hide detailsP28288
With | #Exp. | IntAct |
---|---|---|
ABCD1 [P33897] | 2 | EBI-80992,EBI-81045 |
PEX19 [P40855] | 4 | EBI-80992,EBI-594747 |
Isoform 2 [P28288-2]
With | #Exp. | IntAct |
---|---|---|
FAM122C - isoform 2 [Q6P4D5-2] | 3 | EBI-25889034,EBI-9091052 |
GNAO1 [P09471] | 3 | EBI-25889034,EBI-715087 |
SUB1 [P53999] | 3 | EBI-25889034,EBI-998260 |
GO - Molecular functioni
- protein homodimerization activity Source: UniProtKB
- protein self-association Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 111783, 129 interactors |
IntActi | P28288, 71 interactors |
MINTi | P28288 |
STRINGi | 9606.ENSP00000359233 |
Miscellaneous databases
RNActi | P28288, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 85 – 372 | ABC transmembrane type-1PROSITE-ProRule annotationAdd BLAST | 288 | |
Domaini | 440 – 659 | ABC transporterPROSITE-ProRule annotationAdd BLAST | 220 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 199 | Interaction with PEX19Add BLAST | 199 | |
Regioni | 1 – 124 | Targeting to peroxisomesAdd BLAST | 124 |
Sequence similaritiesi
Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily. [View classification]Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG0060, Eukaryota |
GeneTreei | ENSGT00950000182955 |
HOGENOMi | CLU_007587_5_1_1 |
InParanoidi | P28288 |
OMAi | FRYGLVH |
OrthoDBi | 309052at2759 |
PhylomeDBi | P28288 |
TreeFami | TF105205 |
Family and domain databases
InterProi | View protein in InterPro IPR003593, AAA+_ATPase IPR011527, ABC1_TM_dom IPR036640, ABC1_TM_sf IPR003439, ABC_transporter-like IPR017871, ABC_transporter_CS IPR005283, FA_transporter IPR027417, P-loop_NTPase |
Pfami | View protein in Pfam PF06472, ABC_membrane_2, 1 hit PF00005, ABC_tran, 1 hit |
SMARTi | View protein in SMART SM00382, AAA, 1 hit |
SUPFAMi | SSF52540, SSF52540, 1 hit SSF90123, SSF90123, 1 hit |
TIGRFAMsi | TIGR00954, 3a01203, 1 hit |
PROSITEi | View protein in PROSITE PS50929, ABC_TM1F, 1 hit PS00211, ABC_TRANSPORTER_1, 1 hit PS50893, ABC_TRANSPORTER_2, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: P28288-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAAFSKYLTA RNSSLAGAAF LLLCLLHKRR RALGLHGKKS GKPPLQNNEK
60 70 80 90 100
EGKKERAVVD KVFFSRLIQI LKIMVPRTFC KETGYLVLIA VMLVSRTYCD
110 120 130 140 150
VWMIQNGTLI ESGIIGRSRK DFKRYLLNFI AAMPLISLVN NFLKYGLNEL
160 170 180 190 200
KLCFRVRLTK YLYEEYLQAF TYYKMGNLDN RIANPDQLLT QDVEKFCNSV
210 220 230 240 250
VDLYSNLSKP FLDIVLYIFK LTSAIGAQGP ASMMAYLVVS GLFLTRLRRP
260 270 280 290 300
IGKMTITEQK YEGEYRYVNS RLITNSEEIA FYNGNKREKQ TVHSVFRKLV
310 320 330 340 350
EHLHNFILFR FSMGFIDSII AKYLATVVGY LVVSRPFLDL SHPRHLKSTH
360 370 380 390 400
SELLEDYYQS GRMLLRMSQA LGRIVLAGRE MTRLAGFTAR ITELMQVLKD
410 420 430 440 450
LNHGKYERTM VSQQEKGIEG VQVIPLIPGA GEIIIADNII KFDHVPLATP
460 470 480 490 500
NGDVLIRDLN FEVRSGANVL ICGPNGCGKS SLFRVLGELW PLFGGRLTKP
510 520 530 540 550
ERGKLFYVPQ RPYMTLGTLR DQVIYPDGRE DQKRKGISDL VLKEYLDNVQ
560 570 580 590 600
LGHILEREGG WDSVQDWMDV LSGGEKQRMA MARLFYHKPQ FAILDECTSA
610 620 630 640 650
VSVDVEGYIY SHCRKVGITL FTVSHRKSLW KHHEYYLHMD GRGNYEFKQI
TEDTVEFGS
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A3B3ITW3 | A0A3B3ITW3_HUMAN | ATP-binding cassette sub-family D m... | ABCD3 | 659 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 175 | M → K in CAA41416 (PubMed:1536884).Curated | 1 | |
Sequence conflicti | 191 – 192 | QD → LV in CAA58470 (PubMed:9521874).Curated | 2 | |
Sequence conflicti | 336 | P → L in CAA58470 (PubMed:9521874).Curated | 1 | |
Sequence conflicti | 503 | G → R in CAA41416 (PubMed:1536884).Curated | 1 | |
Sequence conflicti | 542 | L → Q in CAA41416 (PubMed:1536884).Curated | 1 | |
Sequence conflicti | 616 – 634 | VGITL…WKHHE → GWHHSLHLCLIGNLFGNIMR in CAA58470 (PubMed:9521874).CuratedAdd BLAST | 19 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_000091 | 17 | G → D in a patient with Zellweger syndrome. 1 PublicationCorresponds to variant dbSNP:rs121917999EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_031187 | 229 – 236 | GPASMMAY → VLGKILWH in isoform 3. 2 Publications | 8 | |
Alternative sequenceiVSP_031188 | 237 – 659 | Missing in isoform 3. 2 PublicationsAdd BLAST | 423 | |
Alternative sequenceiVSP_031189 | 277 – 386 | Missing in isoform 2. 1 PublicationAdd BLAST | 110 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi 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 AC093117 Genomic DNA No translation available. AC118469 Genomic DNA No translation available. AL138758 Genomic DNA No translation available. 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] |
Genome annotation databases
Ensembli | ENST00000315713; ENSP00000326880; ENSG00000117528 [P28288-3] ENST00000370214; ENSP00000359233; ENSG00000117528 [P28288-1] |
GeneIDi | 5825 |
KEGGi | hsa:5825 |
UCSCi | uc001dqm.5, human [P28288-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
ABCMdb Database for mutations in ABC proteins |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi 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 AC093117 Genomic DNA No translation available. AC118469 Genomic DNA No translation available. AL138758 Genomic DNA No translation available. 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] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 111783, 129 interactors |
IntActi | P28288, 71 interactors |
MINTi | P28288 |
STRINGi | 9606.ENSP00000359233 |
Protein family/group databases
TCDBi | 3.A.1.203.1, the atp-binding cassette (abc) superfamily |
PTM databases
GlyGeni | P28288, 3 sites |
iPTMneti | P28288 |
MetOSitei | P28288 |
PhosphoSitePlusi | P28288 |
SwissPalmi | P28288 |
Genetic variation databases
BioMutai | ABCD3 |
DMDMi | 130358 |
Proteomic databases
CPTACi | CPTAC-157 |
EPDi | P28288 |
jPOSTi | P28288 |
MassIVEi | P28288 |
MaxQBi | P28288 |
PaxDbi | P28288 |
PeptideAtlasi | P28288 |
PRIDEi | P28288 |
ProteomicsDBi | 54454 [P28288-1] 54455 [P28288-2] 54456 [P28288-3] |
Protocols and materials databases
Antibodypediai | 33667, 214 antibodies |
DNASUi | 5825 |
Genome annotation databases
Ensembli | ENST00000315713; ENSP00000326880; ENSG00000117528 [P28288-3] ENST00000370214; ENSP00000359233; ENSG00000117528 [P28288-1] |
GeneIDi | 5825 |
KEGGi | hsa:5825 |
UCSCi | uc001dqm.5, human [P28288-1] |
Organism-specific databases
CTDi | 5825 |
DisGeNETi | 5825 |
GeneCardsi | ABCD3 |
HGNCi | HGNC:67, ABCD3 |
HPAi | ENSG00000117528, Low tissue specificity |
MalaCardsi | ABCD3 |
MIMi | 170995, gene 616278, phenotype |
neXtProti | NX_P28288 |
OpenTargetsi | ENSG00000117528 |
PharmGKBi | PA24402 |
VEuPathDBi | HostDB:ENSG00000117528.11 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0060, Eukaryota |
GeneTreei | ENSGT00950000182955 |
HOGENOMi | CLU_007587_5_1_1 |
InParanoidi | P28288 |
OMAi | FRYGLVH |
OrthoDBi | 309052at2759 |
PhylomeDBi | P28288 |
TreeFami | TF105205 |
Enzyme and pathway databases
PathwayCommonsi | P28288 |
Reactomei | R-HSA-1369062, ABC transporters in lipid homeostasis R-HSA-9603798, Class I peroxisomal membrane protein import |
Miscellaneous databases
BioGRID-ORCSi | 5825, 13 hits in 878 CRISPR screens |
ChiTaRSi | ABCD3, human |
GeneWikii | ABCD3 |
GenomeRNAii | 5825 |
Pharosi | P28288, Tbio |
PROi | PR:P28288 |
RNActi | P28288, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000117528, Expressed in secondary oocyte and 252 other tissues |
ExpressionAtlasi | P28288, baseline and differential |
Genevisiblei | P28288, HS |
Family and domain databases
InterProi | View protein in InterPro IPR003593, AAA+_ATPase IPR011527, ABC1_TM_dom IPR036640, ABC1_TM_sf IPR003439, ABC_transporter-like IPR017871, ABC_transporter_CS IPR005283, FA_transporter IPR027417, P-loop_NTPase |
Pfami | View protein in Pfam PF06472, ABC_membrane_2, 1 hit PF00005, ABC_tran, 1 hit |
SMARTi | View protein in SMART SM00382, AAA, 1 hit |
SUPFAMi | SSF52540, SSF52540, 1 hit SSF90123, SSF90123, 1 hit |
TIGRFAMsi | TIGR00954, 3a01203, 1 hit |
PROSITEi | View protein in PROSITE PS50929, ABC_TM1F, 1 hit PS00211, ABC_TRANSPORTER_1, 1 hit PS50893, ABC_TRANSPORTER_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ABCD3_HUMAN | |
Accessioni | P28288Primary (citable) accession number: P28288 Secondary accession number(s): D3DT46 Q9H529 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 1, 1992 |
Last sequence update: | December 1, 1992 | |
Last modified: | February 10, 2021 | |
This is version 210 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families