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Protein

ATP-binding cassette sub-family D member 3

Gene

ABCD3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Regions

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

GO - Molecular functioni

  • ATPase activity Source: UniProtKB
  • ATPase activity, coupled to transmembrane movement of substances Source: InterPro
  • ATP binding Source: UniProtKB
  • long-chain fatty acid transporter activity Source: Reactome
  • protein homodimerization activity Source: UniProtKB

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
Complete GO annotation...

Keywords - Biological processi

Transport

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000117528-MONOMER.
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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:67. ABCD3.

Subcellular locationi

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

GO - Cellular componenti

  • cytosol Source: Reactome
  • integral component of membrane Source: UniProtKB-KW
  • intracellular membrane-bounded organelle Source: HPA
  • membrane Source: UniProtKB
  • mitochondrial inner membrane Source: Ensembl
  • peroxisomal matrix Source: UniProtKB
  • peroxisomal membrane Source: UniProtKB
  • peroxisome Source: UniProtKB
Complete GO annotation...

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.
MIMi616278. phenotype.
OpenTargetsiENSG00000117528.
PharmGKBiPA24402.

Polymorphism and mutation databases

BioMutaiABCD3.
DMDMi130358.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedBy similarity
ChainiPRO_00000933092 – 659ATP-binding cassette sub-family D member 3Add BLAST658

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi12N-linked (GlcNAc...)Sequence analysis1
Modified residuei61N6-acetyllysineBy similarity1
Glycosylationi106N-linked (GlcNAc...)Sequence analysis1
Glycosylationi206N-linked (GlcNAc...)Sequence 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.

PTM databases

iPTMnetiP28288.
PhosphoSitePlusiP28288.
SwissPalmiP28288.

Expressioni

Gene expression databases

BgeeiENSG00000117528.
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

WithEntry#Exp.IntActNotes
ABCD1P338972EBI-80992,EBI-81045
PEX19P408554EBI-80992,EBI-594747

GO - Molecular functioni

  • protein homodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi111783. 71 interactors.
IntActiP28288. 38 interactors.
MINTiMINT-3010926.
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
Regioni2 – 199Interaction with PEX19Add BLAST198
Regioni2 – 124Targeting to peroxisomesAdd BLAST123

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

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

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR003593. AAA+_ATPase.
IPR011527. ABC1_TM_dom.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR031241. ABCD3.
IPR005283. FA_transporter.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR11384:SF34. PTHR11384:SF34. 1 hit.
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.
TIGRFAMsiTIGR00954. 3a01203. 1 hit.
PROSITEiPS50929. ABC_TM1F. 1 hit.
PS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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 rs121917999dbSNPEnsembl.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.
AL138758, AC093117, AC118469 Genomic DNA. Translation: CAC15960.2.
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

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.
AL138758, AC093117, AC118469 Genomic DNA. Translation: CAC15960.2.
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. 71 interactors.
IntActiP28288. 38 interactors.
MINTiMINT-3010926.
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.

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.
GeneCardsiABCD3.
HGNCiHGNC:67. ABCD3.
HPAiCAB032516.
CAB075749.
HPA032026.
HPA032027.
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

BioCyciZFISH:ENSG00000117528-MONOMER.
ReactomeiR-HSA-1369062. ABC transporters in lipid homeostasis.

Miscellaneous databases

ChiTaRSiABCD3. human.
GeneWikiiABCD3.
GenomeRNAii5825.
PROiP28288.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000117528.
CleanExiHS_ABCD3.
GenevisibleiP28288. HS.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR003593. AAA+_ATPase.
IPR011527. ABC1_TM_dom.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR031241. ABCD3.
IPR005283. FA_transporter.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR11384:SF34. PTHR11384:SF34. 1 hit.
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.
TIGRFAMsiTIGR00954. 3a01203. 1 hit.
PROSITEiPS50929. ABC_TM1F. 1 hit.
PS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiABCD3_HUMAN
AccessioniPrimary (citable) accession number: P28288
Secondary accession number(s): D3DT46
, Q15271, Q6NUN5, Q96DA3, Q9H529
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 1992
Last sequence update: December 1, 1992
Last modified: November 30, 2016
This is version 174 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

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.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.