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UniProtKB - P28288 (ABCD3_HUMAN)

Entry version 200 (31 Jul 2019)
Sequence version 1 (01 Dec 1992)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi473 – 480ATPPROSITE-ProRule annotation8

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processTransport
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1369062 ABC transporters in lipid homeostasis
R-HSA-9603798 Class I peroxisomal membrane protein import

Protein family/group databases

Transport Classification Database

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

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
ATP-binding cassette sub-family D member 3
Alternative name(s):
70 kDa peroxisomal membrane protein
Short name:
PMP70
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ABCD3
Synonyms:PMP70, PXMP1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:67 ABCD3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		170995 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P28288

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi478G → R: Decreased ATP-binding affinity. 1 Publication1
Mutagenesisi572S → I: Decreased ATPase activity. 1 Publication1

Organism-specific databases

DisGeNET

More...DisGeNETi		5825

MalaCards human disease database

More...MalaCardsi		ABCD3
MIMi616278 phenotype

Open Targets

More...OpenTargetsi		ENSG00000117528

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA24402

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ABCD3

Domain mapping of disease mutations (DMDM)

More...DMDMi		130358

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000933091 – 659ATP-binding cassette sub-family D member 3Add BLAST659

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi12N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>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

The CPTAC Assay portal

More...CPTACi		CPTAC-157

Encyclopedia of Proteome Dynamics

More...EPDi		P28288

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P28288

MaxQB - The MaxQuant DataBase

More...MaxQBi		P28288

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P28288

PeptideAtlas

More...PeptideAtlasi		P28288

PRoteomics IDEntifications database

More...PRIDEi		P28288

ProteomicsDB human proteome resource

More...ProteomicsDBi		54454 [P28288-1]
54455 [P28288-2]
54456 [P28288-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P28288

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P28288

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P28288

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000117528 Expressed in 242 organ(s), highest expression level in secondary oocyte

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P28288 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P28288 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB032516
CAB075749
HPA032026
HPA032027

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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

Interacts with PEX19.

3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		111783, 95 interactors

Protein interaction database and analysis system

More...IntActi		P28288, 59 interactors

Molecular INTeraction database

More...MINTi		P28288

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000359233

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini85 – 372ABC transmembrane type-1PROSITE-ProRule annotationAdd BLAST288
Domaini440 – 659ABC transporterPROSITE-ProRule annotationAdd BLAST220

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 199Interaction with PEX19Add BLAST199
Regioni1 – 124Targeting to peroxisomesAdd BLAST124

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0064 Eukaryota
COG4178 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00950000182955

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000206081

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P28288

KEGG Orthology (KO)

More...KOi		K05677

Identification of Orthologs from Complete Genome Data

More...OMAi		SMMAYLI

Database of Orthologous Groups

More...OrthoDBi		309052at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P28288

TreeFam database of animal gene trees

More...TreeFami		TF105205

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View 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

The PANTHER Classification System

More...PANTHERi		PTHR11384:SF34 PTHR11384:SF34, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF06472 ABC_membrane_2, 1 hit
PF00005 ABC_tran, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00382 AAA, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF52540 SSF52540, 1 hit
SSF90123 SSF90123, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR00954 3a01203, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50929 ABC_TM1F, 1 hit
PS00211 ABC_TRANSPORTER_1, 1 hit
PS50893 ABC_TRANSPORTER_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A3B3ITW3A0A3B3ITW3_HUMAN
ATP-binding cassette sub-family D m...
ABCD3
167Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_00009117G → D in a patient with Zellweger syndrome. 1 PublicationCorresponds to variant dbSNP:rs121917999EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS44175.1 [P28288-3]
CCDS749.1 [P28288-1]

Protein sequence database of the Protein Information Resource

More...PIRi		S20313

NCBI Reference Sequences

More...RefSeqi		NP_001116146.1, NM_001122674.1 [P28288-3]
NP_002849.1, NM_002858.3 [P28288-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000315713; ENSP00000326880; ENSG00000117528 [P28288-3]
ENST00000370214; ENSP00000359233; ENSG00000117528 [P28288-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		5825

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:5825

UCSC genome browser

More...UCSCi		uc001dqm.5 human [P28288-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGridi111783, 95 interactors
IntActiP28288, 59 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

CPTACiCPTAC-157
EPDiP28288
jPOSTiP28288
MaxQBiP28288
PaxDbiP28288
PeptideAtlasiP28288
PRIDEiP28288
ProteomicsDBi54454 [P28288-1]
54455 [P28288-2]
54456 [P28288-3]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		5825
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

Comparative Toxicogenomics Database

More...CTDi		5825
DisGeNETi5825

GeneCards: human genes, protein and diseases

More...GeneCardsi		ABCD3
HGNCiHGNC:67 ABCD3
HPAiCAB032516
CAB075749
HPA032026
HPA032027
MalaCardsiABCD3
MIMi170995 gene
616278 phenotype
neXtProtiNX_P28288
OpenTargetsiENSG00000117528
PharmGKBiPA24402

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0064 Eukaryota
COG4178 LUCA
GeneTreeiENSGT00950000182955
HOGENOMiHOG000206081
InParanoidiP28288
KOiK05677
OMAiSMMAYLI
OrthoDBi309052at2759
PhylomeDBiP28288
TreeFamiTF105205

Enzyme and pathway databases

ReactomeiR-HSA-1369062 ABC transporters in lipid homeostasis
R-HSA-9603798 Class I peroxisomal membrane protein import

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		ABCD3 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ABCD3

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		5825

Protein Ontology

More...PROi		PR:P28288

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000117528 Expressed in 242 organ(s), highest expression level in secondary oocyte
ExpressionAtlasiP28288 baseline and differential
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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiABCD3_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P28288
Secondary accession number(s): D3DT46
, Q15271, Q6NUN5, Q96DA3, Q9H529
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 1992
Last sequence update: December 1, 1992
Last modified: July 31, 2019
This is version 200 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
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