Skip Header

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

P28288

- ABCD3_HUMAN

UniProt

P28288 - ABCD3_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

ATP-binding cassette sub-family D member 3

Gene

ABCD3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Probable transporter. The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity.1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi473 – 4808ATPPROSITE-ProRule annotation

GO - Molecular functioni

  1. ATPase activity Source: UniProtKB
  2. ATPase activity, coupled to transmembrane movement of substances Source: InterPro
  3. ATP binding Source: UniProtKB
  4. protein homodimerization activity Source: UniProtKB

GO - Biological processi

  1. ATP catabolic process Source: GOC
  2. fatty acid beta-oxidation Source: UniProtKB
  3. peroxisome organization Source: UniProtKB
  4. transmembrane transport Source: Reactome
  5. 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

ReactomeiREACT_111158. ABCA 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
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:67. ABCD3.

Subcellular locationi

Peroxisome membrane 1 Publication; Multi-pass membrane protein 1 PublicationPROSITE-ProRule annotation

GO - Cellular componenti

  1. cytosol Source: Reactome
  2. integral component of membrane Source: UniProtKB-KW
  3. intracellular membrane-bounded organelle Source: HPA
  4. membrane Source: UniProtKB
  5. mitochondrial inner membrane Source: Ensembl
  6. peroxisomal matrix Source: UniProtKB
  7. peroxisomal membrane Source: UniProtKB
  8. peroxisome Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Peroxisome

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi478 – 4781G → R: Decreased ATP-binding affinity. 1 Publication
Mutagenesisi572 – 5721S → I: Decreased ATPase activity. 1 Publication

Organism-specific databases

PharmGKBiPA24402.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11RemovedBy similarity
Chaini2 – 659658ATP-binding cassette sub-family D member 3PRO_0000093309Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi12 – 121N-linked (GlcNAc...)Sequence Analysis
Modified residuei61 – 611N6-acetyllysineBy similarity
Glycosylationi106 – 1061N-linked (GlcNAc...)Sequence Analysis
Glycosylationi206 – 2061N-linked (GlcNAc...)Sequence Analysis
Modified residuei260 – 2601N6-acetyllysine1 Publication
Modified residuei399 – 3991N6-acetyllysine1 Publication
Modified residuei533 – 5331N6-acetyllysineBy similarity
Modified residuei659 – 6591PhosphoserineBy similarity

Keywords - PTMi

Acetylation, Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiP28288.
PaxDbiP28288.
PeptideAtlasiP28288.
PRIDEiP28288.

PTM databases

PhosphoSiteiP28288.

Expressioni

Gene expression databases

BgeeiP28288.
CleanExiHS_ABCD3.
ExpressionAtlasiP28288. baseline and differential.
GenevestigatoriP28288.

Organism-specific databases

HPAiHPA032026.
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

Protein-protein interaction databases

BioGridi111783. 42 interactions.
IntActiP28288. 12 interactions.
MINTiMINT-3010926.
STRINGi9606.ENSP00000359233.

Structurei

3D structure databases

ProteinModelPortaliP28288.
SMRiP28288. Positions 427-640.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei84 – 10421HelicalPROSITE-ProRule annotationAdd
BLAST
Transmembranei126 – 14621HelicalPROSITE-ProRule annotationAdd
BLAST
Transmembranei224 – 24421HelicalPROSITE-ProRule annotationAdd
BLAST
Transmembranei313 – 33321HelicalPROSITE-ProRule annotationAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini85 – 372288ABC transmembrane type-1PROSITE-ProRule annotationAdd
BLAST
Domaini440 – 659220ABC transporterPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni2 – 199198Interaction with PEX19Add
BLAST
Regioni2 – 124123Targeting to peroxisomesAdd
BLAST

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

eggNOGiCOG4178.
GeneTreeiENSGT00390000003950.
HOGENOMiHOG000206081.
HOVERGENiHBG050438.
InParanoidiP28288.
KOiK05677.
OrthoDBiEOG70ZZMP.
PhylomeDBiP28288.
TreeFamiTF105205.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR003593. AAA+_ATPase.
IPR011527. ABC1_TM_dom.
IPR010509. ABC_Peroxi_TM.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR005283. FA_transporter.
IPR027417. P-loop_NTPase.
[Graphical view]
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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti175 – 1751M → K in CAA41416. (PubMed:1536884)Curated
Sequence conflicti191 – 1922QD → LV in CAA58470. (PubMed:9521874)Curated
Sequence conflicti336 – 3361P → L in CAA58470. (PubMed:9521874)Curated
Sequence conflicti503 – 5031G → R in CAA41416. (PubMed:1536884)Curated
Sequence conflicti542 – 5421L → Q in CAA41416. (PubMed:1536884)Curated
Sequence conflicti616 – 63419VGITL…WKHHE → GWHHSLHLCLIGNLFGNIMR in CAA58470. (PubMed:9521874)CuratedAdd
BLAST

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti17 – 171G → D in a patient with Zellweger syndrome. 1 Publication
VAR_000091

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei229 – 2368GPASMMAY → VLGKILWH in isoform 3. 2 PublicationsVSP_031187
Alternative sequencei237 – 659423Missing in isoform 3. 2 PublicationsVSP_031188Add
BLAST
Alternative sequencei277 – 386110Missing in isoform 2. 1 PublicationVSP_031189Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.4. human. [P28288-3]
uc001dqn.4. human. [P28288-1]
uc009wdr.3. human. [P28288-2]

Polymorphism databases

DMDMi130358.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

ABCMdb

Database for mutations in ABC proteins

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
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 ]
UniGenei Hs.700576.

3D structure databases

ProteinModelPortali P28288.
SMRi P28288. Positions 427-640.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 111783. 42 interactions.
IntActi P28288. 12 interactions.
MINTi MINT-3010926.
STRINGi 9606.ENSP00000359233.

Protein family/group databases

TCDBi 3.A.1.203.1. the atp-binding cassette (abc) superfamily.

PTM databases

PhosphoSitei P28288.

Polymorphism databases

DMDMi 130358.

Proteomic databases

MaxQBi P28288.
PaxDbi P28288.
PeptideAtlasi P28288.
PRIDEi P28288.

Protocols and materials databases

DNASUi 5825.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000315713 ; ENSP00000326880 ; ENSG00000117528 . [P28288-3 ]
ENST00000370214 ; ENSP00000359233 ; ENSG00000117528 . [P28288-1 ]
GeneIDi 5825.
KEGGi hsa:5825.
UCSCi uc001dqm.4. human. [P28288-3 ]
uc001dqn.4. human. [P28288-1 ]
uc009wdr.3. human. [P28288-2 ]

Organism-specific databases

CTDi 5825.
GeneCardsi GC01P094883.
HGNCi HGNC:67. ABCD3.
HPAi HPA032026.
HPA032027.
MIMi 170995. gene.
neXtProti NX_P28288.
PharmGKBi PA24402.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG4178.
GeneTreei ENSGT00390000003950.
HOGENOMi HOG000206081.
HOVERGENi HBG050438.
InParanoidi P28288.
KOi K05677.
OrthoDBi EOG70ZZMP.
PhylomeDBi P28288.
TreeFami TF105205.

Enzyme and pathway databases

Reactomei REACT_111158. ABCA transporters in lipid homeostasis.

Miscellaneous databases

ChiTaRSi ABCD3. human.
GeneWikii ABCD3.
GenomeRNAii 5825.
NextBioi 22689.
PROi P28288.
SOURCEi Search...

Gene expression databases

Bgeei P28288.
CleanExi HS_ABCD3.
ExpressionAtlasi P28288. baseline and differential.
Genevestigatori P28288.

Family and domain databases

Gene3Di 3.40.50.300. 1 hit.
InterProi IPR003593. AAA+_ATPase.
IPR011527. ABC1_TM_dom.
IPR010509. ABC_Peroxi_TM.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR005283. FA_transporter.
IPR027417. P-loop_NTPase.
[Graphical view ]
Pfami PF06472. ABC_membrane_2. 1 hit.
PF00005. ABC_tran. 1 hit.
[Graphical view ]
SMARTi SM00382. AAA. 1 hit.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 1 hit.
SSF90123. SSF90123. 1 hit.
TIGRFAMsi TIGR00954. 3a01203. 1 hit.
PROSITEi PS50929. ABC_TM1F. 1 hit.
PS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome."
    Gaertner J., Moser H., Valle D.
    Nat. Genet. 1:16-23(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ASP-17.
    Tissue: Liver.
  2. "Nucleotide sequence of the human 70 kDa peroxisomal membrane protein: a member of ATP-binding cassette transporters."
    Kamijo K., Kamijo T., Ueno I., Osumi T., Hashimoto T.
    Biochim. Biophys. Acta 1129:323-327(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Liver.
  3. "Genomic organization of the 70-kDa peroxisomal membrane protein gene (PXMP1)."
    Gaertner J., Jimenez-Sanchez G., Roerig P., Valle D.
    Genomics 48:203-208(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  4. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
  5. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "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] (ISOFORMS 2 AND 3).
    Tissue: Brain and Lung.
  8. "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.
  9. "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.
  10. "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: SUBCELLULAR LOCATION, INTERACTION WITH PEX19.
  11. "Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters."
    Roerig P., Mayerhofer P., Holzinger A., Gaertner J.
    FEBS Lett. 492:66-72(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, MUTAGENESIS OF GLY-478 AND SER-572.
  12. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
    Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
    Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-260 AND LYS-399, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  13. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  14. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

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: October 29, 2014
This is version 154 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

External Data

Dasty 3