Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - P28288 (ABCD3_HUMAN)

Protein

ATP-binding cassette sub-family D member 3

Gene

ABCD3

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

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 keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi473 – 480ATPPROSITE-ProRule annotation8

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

  • fatty acid beta-oxidation Source: UniProtKB
  • fatty acid biosynthetic process Source: UniProtKB
  • peroxisomal long-chain fatty acid import Source: InterPro
  • 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
View the complete GO annotation on QuickGO ...

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.1.203.1 the atp-binding cassette (abc) superfamily

Names & Taxonomyi

Protein namesi
Recommended name:
ATP-binding cassette sub-family D member 3
Alternative name(s):
70 kDa peroxisomal membrane protein
Short name:
PMP70
Gene namesi
Name:ABCD3
Synonyms:PMP70, PXMP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000117528.11
HGNCiHGNC:67 ABCD3
MIMi170995 gene
neXtProtiNX_P28288

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
Transmembranei84 – 104HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei126 – 146HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei224 – 244HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei313 – 333HelicalPROSITE-ProRule annotationAdd BLAST21

Keywords - Cellular componenti

Membrane, Peroxisome

Pathology & Biotechi

Involvement in diseasei

Congenital bile acid synthesis defect 5 (CBAS5)1 Publication
The disease is caused by mutations 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.
See also OMIM:616278

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi478G → R: Decreased ATP-binding affinity. 1 Publication1
Mutagenesisi572S → I: Decreased ATPase activity. 1 Publication1

Organism-specific databases

DisGeNETi5825
MalaCardsiABCD3
MIMi616278 phenotype
OpenTargetsiENSG00000117528
PharmGKBiPA24402

Polymorphism and mutation databases

BioMutaiABCD3
DMDMi130358

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000933091 – 659ATP-binding cassette sub-family D member 3Add BLAST659

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi12N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei61N6-acetyllysineBy similarity1
Glycosylationi106N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi206N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei260N6-acetyllysineCombined sources1
Modified residuei399N6-acetyllysineCombined sources1
Modified residuei533N6-acetyllysineBy similarity1
Modified residuei659PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiP28288
MaxQBiP28288
PaxDbiP28288
PeptideAtlasiP28288
PRIDEiP28288
ProteomicsDBi54454
54455 [P28288-2]
54456 [P28288-3]

PTM databases

iPTMnetiP28288
PhosphoSitePlusiP28288
SwissPalmiP28288

Expressioni

Gene expression databases

BgeeiENSG00000117528 Expressed in 242 organ(s), highest expression level in secondary oocyte
CleanExiHS_ABCD3
GenevisibleiP28288 HS

Organism-specific databases

HPAiCAB032516
CAB075749
HPA032026
HPA032027

Interactioni

Subunit structurei

Can form heterodimers with ABCD1/ALD and ABCD2/ALDR. Dimerization is necessary to form an active transporter. Interacts with PEX19.3 Publications

Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi111783, 80 interactors
IntActiP28288, 55 interactors
MINTiP28288
STRINGi9606.ENSP00000359233

Structurei

3D structure databases

ProteinModelPortaliP28288
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini85 – 372ABC transmembrane type-1PROSITE-ProRule annotationAdd BLAST288
Domaini440 – 659ABC transporterPROSITE-ProRule annotationAdd BLAST220

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 199Interaction with PEX19Add BLAST199
Regioni1 – 124Targeting to peroxisomesAdd BLAST124

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 helix

Phylogenomic databases

eggNOGiKOG0064 Eukaryota
COG4178 LUCA
GeneTreeiENSGT00390000003950
HOGENOMiHOG000206081
HOVERGENiHBG050438
InParanoidiP28288
KOiK05677
OMAiSMMAYLI
OrthoDBiEOG091G04M1
PhylomeDBiP28288
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
IPR031241 ABCD3
IPR005283 FA_transporter
IPR027417 P-loop_NTPase
PANTHERiPTHR11384:SF34 PTHR11384:SF34, 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
TIGRFAMsiTIGR00954 3a01203, 1 hit
PROSITEiView protein in PROSITE
PS50929 ABC_TM1F, 1 hit
PS00211 ABC_TRANSPORTER_1, 1 hit
PS50893 ABC_TRANSPORTER_2, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: P28288-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:659
Mass (Da):75,476
Last modified:December 1, 1992 - v1
Checksum:i2CA976FEB6EB6217
GO
Isoform 2 (identifier: P28288-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     277-386: Missing.

Note: No experimental confirmation available.
Show »
Length:549
Mass (Da):62,726
Checksum:i1E0139B8A2EEB7E9
GO
Isoform 3 (identifier: P28288-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     229-236: GPASMMAY → VLGKILWH
     237-659: Missing.

Show »
Length:236
Mass (Da):27,121
Checksum:i314231AA2705E8AB
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti175M → K in CAA41416 (PubMed:1536884).Curated1
Sequence conflicti191 – 192QD → LV in CAA58470 (PubMed:9521874).Curated2
Sequence conflicti336P → L in CAA58470 (PubMed:9521874).Curated1
Sequence conflicti503G → R in CAA41416 (PubMed:1536884).Curated1
Sequence conflicti542L → Q in CAA41416 (PubMed:1536884).Curated1
Sequence conflicti616 – 634VGITL…WKHHE → GWHHSLHLCLIGNLFGNIMR in CAA58470 (PubMed:9521874).CuratedAdd BLAST19

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00009117G → D in a patient with Zellweger syndrome. 1 PublicationCorresponds to variant dbSNP:rs121917999EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_031187229 – 236GPASMMAY → VLGKILWH in isoform 3. 2 Publications8
Alternative sequenceiVSP_031188237 – 659Missing in isoform 3. 2 PublicationsAdd BLAST423
Alternative sequenceiVSP_031189277 – 386Missing in isoform 2. 1 PublicationAdd BLAST110

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
CCDSiCCDS44175.1 [P28288-3]
CCDS749.1 [P28288-1]
PIRiS20313
RefSeqiNP_001116146.1, NM_001122674.1 [P28288-3]
NP_002849.1, NM_002858.3 [P28288-1]
UniGeneiHs.700576

Genome annotation databases

EnsembliENST00000315713; ENSP00000326880; ENSG00000117528 [P28288-3]
ENST00000370214; ENSP00000359233; ENSG00000117528 [P28288-1]
GeneIDi5825
KEGGihsa:5825
UCSCiuc001dqm.5 human [P28288-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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
CCDSiCCDS44175.1 [P28288-3]
CCDS749.1 [P28288-1]
PIRiS20313
RefSeqiNP_001116146.1, NM_001122674.1 [P28288-3]
NP_002849.1, NM_002858.3 [P28288-1]
UniGeneiHs.700576

3D structure databases

ProteinModelPortaliP28288
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111783, 80 interactors
IntActiP28288, 55 interactors
MINTiP28288
STRINGi9606.ENSP00000359233

Protein family/group databases

TCDBi3.A.1.203.1 the atp-binding cassette (abc) superfamily

PTM databases

iPTMnetiP28288
PhosphoSitePlusiP28288
SwissPalmiP28288

Polymorphism and mutation databases

BioMutaiABCD3
DMDMi130358

Proteomic databases

EPDiP28288
MaxQBiP28288
PaxDbiP28288
PeptideAtlasiP28288
PRIDEiP28288
ProteomicsDBi54454
54455 [P28288-2]
54456 [P28288-3]

Protocols and materials databases

DNASUi5825
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000315713; ENSP00000326880; ENSG00000117528 [P28288-3]
ENST00000370214; ENSP00000359233; ENSG00000117528 [P28288-1]
GeneIDi5825
KEGGihsa:5825
UCSCiuc001dqm.5 human [P28288-1]

Organism-specific databases

CTDi5825
DisGeNETi5825
EuPathDBiHostDB:ENSG00000117528.11
GeneCardsiABCD3
HGNCiHGNC:67 ABCD3
HPAiCAB032516
CAB075749
HPA032026
HPA032027
MalaCardsiABCD3
MIMi170995 gene
616278 phenotype
neXtProtiNX_P28288
OpenTargetsiENSG00000117528
PharmGKBiPA24402
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0064 Eukaryota
COG4178 LUCA
GeneTreeiENSGT00390000003950
HOGENOMiHOG000206081
HOVERGENiHBG050438
InParanoidiP28288
KOiK05677
OMAiSMMAYLI
OrthoDBiEOG091G04M1
PhylomeDBiP28288
TreeFamiTF105205

Enzyme and pathway databases

ReactomeiR-HSA-1369062 ABC transporters in lipid homeostasis

Miscellaneous databases

ChiTaRSiABCD3 human
GeneWikiiABCD3
GenomeRNAii5825
PROiPR:P28288
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000117528 Expressed in 242 organ(s), highest expression level in secondary oocyte
CleanExiHS_ABCD3
GenevisibleiP28288 HS

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
IPR031241 ABCD3
IPR005283 FA_transporter
IPR027417 P-loop_NTPase
PANTHERiPTHR11384:SF34 PTHR11384:SF34, 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
TIGRFAMsiTIGR00954 3a01203, 1 hit
PROSITEiView protein in PROSITE
PS50929 ABC_TM1F, 1 hit
PS00211 ABC_TRANSPORTER_1, 1 hit
PS50893 ABC_TRANSPORTER_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiABCD3_HUMAN
AccessioniPrimary (citable) accession number: P28288
Secondary accession number(s): D3DT46
, Q15271, Q6NUN5, Q96DA3, Q9H529
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 1992
Last sequence update: December 1, 1992
Last modified: November 7, 2018
This is version 193 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again