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UniProtKB - Q8WWZ7 (ABCA5_HUMAN)

Entry version 133 (18 Sep 2019)
Sequence version 2 (03 Oct 2006)
Previous versions | rss
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Protein

ATP-binding cassette sub-family A member 5

Gene

ABCA5

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 transcript 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

May play a role in the processing of autolysosomes.By similarity

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 bindingi514 – 521ATP 1PROSITE-ProRule annotation8
Nucleotide bindingi1333 – 1340ATP 2PROSITE-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

Protein family/group databases

Transport Classification Database

More...TCDBi		3.A.1.211.9 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 A member 5
<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:ABCA5
Synonyms:KIAA1888
<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 17

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:35 ABCA5

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		612503 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8WWZ7

<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>Transmembranei32 – 52HelicalSequence analysisAdd BLAST21
Transmembranei220 – 240HelicalSequence analysisAdd BLAST21
Transmembranei264 – 284HelicalSequence analysisAdd BLAST21
Transmembranei297 – 317HelicalSequence analysisAdd BLAST21
Transmembranei328 – 348HelicalSequence analysisAdd BLAST21
Transmembranei355 – 375HelicalSequence analysisAdd BLAST21
Transmembranei396 – 416HelicalSequence analysisAdd BLAST21
Transmembranei866 – 886HelicalSequence analysisAdd BLAST21
Transmembranei967 – 987HelicalSequence analysisAdd BLAST21
Transmembranei1021 – 1041HelicalSequence analysisAdd BLAST21
Transmembranei1071 – 1091HelicalSequence analysisAdd BLAST21
Transmembranei1102 – 1122HelicalSequence analysisAdd BLAST21
Transmembranei1139 – 1159HelicalSequence analysisAdd BLAST21
Transmembranei1169 – 1189HelicalSequence analysisAdd BLAST21
Transmembranei1207 – 1227HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endosome, Golgi apparatus, Lysosome, Membrane

<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

Organism-specific databases

DisGeNET

More...DisGeNETi		23461

MalaCards human disease database

More...MalaCardsi		ABCA5

Open Targets

More...OpenTargetsi		ENSG00000154265

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		2026 Gingival fibromatosis-hypertrichosis syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA24380

Chemistry databases

Drug and drug target database

More...DrugBanki		DB00864 Tacrolimus

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ABCA5

Domain mapping of disease mutations (DMDM)

More...DMDMi		115503762

<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_00002506691 – 1642ATP-binding cassette sub-family A member 5Add BLAST1642

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>Glycosylationi86N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi458N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi996N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N-glycosylated.By similarity

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q8WWZ7

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8WWZ7

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8WWZ7

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8WWZ7

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

More...PaxDbi		Q8WWZ7

PeptideAtlas

More...PeptideAtlasi		Q8WWZ7

PRoteomics IDEntifications database

More...PRIDEi		Q8WWZ7

ProteomicsDB human proteome resource

More...ProteomicsDBi		74970 [Q8WWZ7-1]
74971 [Q8WWZ7-2]
74972 [Q8WWZ7-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8WWZ7

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

More...PhosphoSitePlusi		Q8WWZ7

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitously expressed. Highly expressed in testis, skeletal muscle, kidney, liver and placenta.2 Publications

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expressed in fetal liver, kidney and brain.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000154265 Expressed in 227 organ(s), highest expression level in intestine

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8WWZ7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8WWZ7 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA022032
HPA062904

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		117024, 3 interactors

Protein interaction database and analysis system

More...IntActi		Q8WWZ7, 3 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000376443

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q8WWZ7

Database of comparative protein structure models

More...ModBasei		Search...

<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>Domaini478 – 713ABC transporter 1PROSITE-ProRule annotationAdd BLAST236
Domaini1290 – 1533ABC transporter 2PROSITE-ProRule annotationAdd BLAST244

<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. ABCA family.Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0059 Eukaryota
COG1131 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158172

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000231057

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8WWZ7

KEGG Orthology (KO)

More...KOi		K05648

Identification of Orthologs from Complete Genome Data

More...OMAi		ATKYVSF

Database of Orthologous Groups

More...OrthoDBi		773373at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8WWZ7

TreeFam database of animal gene trees

More...TreeFami		TF105192

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR003593 AAA+_ATPase
IPR003439 ABC_transporter-like
IPR017871 ABC_transporter_CS
IPR026082 ABCA
IPR030367 ABCA5
IPR027417 P-loop_NTPase

The PANTHER Classification System

More...PANTHERi		PTHR19229 PTHR19229, 1 hit
PTHR19229:SF100 PTHR19229:SF100, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00005 ABC_tran, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00382 AAA, 2 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF52540 SSF52540, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00211 ABC_TRANSPORTER_1, 1 hit
PS50893 ABC_TRANSPORTER_2, 2 hits

<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 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8WWZ7-1) [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
MSTAIREVGV WRQTRTLLLK NYLIKCRTKK SSVQEILFPL FFLFWLILIS 
        60         70         80         90        100
MMHPNKKYEE VPNIELNPMD KFTLSNLILG YTPVTNITSS IMQKVSTDHL 
       110        120        130        140        150
PDVIITEEYT NEKEMLTSSL SKPSNFVGVV FKDSMSYELR FFPDMIPVSS 
       160        170        180        190        200
IYMDSRAGCS KSCEAAQYWS SGFTVLQASI DAAIIQLKTN VSLWKELEST 
       210        220        230        240        250
KAVIMGETAV VEIDTFPRGV ILIYLVIAFS PFGYFLAIHI VAEKEKKIKE 
       260        270        280        290        300
FLKIMGLHDT AFWLSWVLLY TSLIFLMSLL MAVIATASLL FPQSSSIVIF 
       310        320        330        340        350
LLFFLYGLSS VFFALMLTPL FKKSKHVGIV EFFVTVAFGF IGLMIILIES 
       360        370        380        390        400
FPKSLVWLFS PFCHCTFVIG IAQVMHLEDF NEGASFSNLT AGPYPLIITI 
       410        420        430        440        450
IMLTLNSIFY VLLAVYLDQV IPGEFGLRRS SLYFLKPSYW SKSKRNYEEL 
       460        470        480        490        500
SEGNVNGNIS FSEIIEPVSS EFVGKEAIRI SGIQKTYRKK GENVEALRNL 
       510        520        530        540        550
SFDIYEGQIT ALLGHSGTGK STLMNILCGL CPPSDGFASI YGHRVSEIDE 
       560        570        580        590        600
MFEARKMIGI CPQLDIHFDV LTVEENLSIL ASIKGIPANN IIQEVQKVLL 
       610        620        630        640        650
DLDMQTIKDN QAKKLSGGQK RKLSLGIAVL GNPKILLLDE PTAGMDPCSR 
       660        670        680        690        700
HIVWNLLKYR KANRVTVFST HFMDEADILA DRKAVISQGM LKCVGSSMFL 
       710        720        730        740        750
KSKWGIGYRL SMYIDKYCAT ESLSSLVKQH IPGATLLQQN DQQLVYSLPF 
       760        770        780        790        800
KDMDKFSGLF SALDSHSNLG VISYGVSMTT LEDVFLKLEV EAEIDQADYS 
       810        820        830        840        850
VFTQQPLEEE MDSKSFDEME QSLLILSETK AALVSTMSLW KQQMYTIAKF 
       860        870        880        890        900
HFFTLKRESK SVRSVLLLLL IFFTVQIFMF LVHHSFKNAV VPIKLVPDLY 
       910        920        930        940        950
FLKPGDKPHK YKTSLLLQNS ADSDISDLIS FFTSQNIMVT MINDSDYVSV 
       960        970        980        990       1000
APHSAALNVM HSEKDYVFAA VFNSTMVYSL PILVNIISNY YLYHLNVTET 
      1010       1020       1030       1040       1050
IQIWSTPFFQ EITDIVFKIE LYFQAALLGI IVTAMPPYFA MENAENHKIK 
      1060       1070       1080       1090       1100
AYTQLKLSGL LPSAYWIGQA VVDIPLFFII LILMLGSLLA FHYGLYFYTV 
      1110       1120       1130       1140       1150
KFLAVVFCLI GYVPSVILFT YIASFTFKKI LNTKEFWSFI YSVAALACIA 
      1160       1170       1180       1190       1200
ITEITFFMGY TIATILHYAF CIIIPIYPLL GCLISFIKIS WKNVRKNVDT 
      1210       1220       1230       1240       1250
YNPWDRLSVA VISPYLQCVL WIFLLQYYEK KYGGRSIRKD PFFRNLSTKS 
      1260       1270       1280       1290       1300
KNRKLPEPPD NEDEDEDVKA ERLKVKELMG CQCCEEKPSI MVSNLHKEYD 
      1310       1320       1330       1340       1350
DKKDFLLSRK VKKVATKYIS FCVKKGEILG LLGPNGAGKS TIINILVGDI 
      1360       1370       1380       1390       1400
EPTSGQVFLG DYSSETSEDD DSLKCMGYCP QINPLWPDTT LQEHFEIYGA 
      1410       1420       1430       1440       1450
VKGMSASDMK EVISRITHAL DLKEHLQKTV KKLPAGIKRK LCFALSMLGN 
      1460       1470       1480       1490       1500
PQITLLDEPS TGMDPKAKQH MWRAIRTAFK NRKRAAILTT HYMEEAEAVC 
      1510       1520       1530       1540       1550
DRVAIMVSGQ LRCIGTVQHL KSKFGKGYFL EIKLKDWIEN LEVDRLQREI 
      1560       1570       1580       1590       1600
QYIFPNASRQ ESFSSILAYK IPKEDVQSLS QSFFKLEEAK HAFAIEEYSF 
      1610       1620       1630       1640 
SQATLEQVFV ELTKEQEEED NSCGTLNSTL WWERTQEDRV VF
Length:1,642
Mass (Da):186,508
Last modified:October 3, 2006 - v2
<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:i608809E8539804BF
GO
Isoform 2 (identifier: Q8WWZ7-2) [UniParc]FASTAAdd to basket
Also known as: V20+16

The sequence of this isoform differs from the canonical sequence as follows:
     922-925: DSDI → GESV
     926-1642: Missing.

Show »
Length:925
Mass (Da):104,364
Checksum:iEF5D6A281832CE47
GO
Isoform 3 (identifier: Q8WWZ7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-777: Missing.

Note: No experimental confirmation available.
Show »
Length:865
Mass (Da):99,273
Checksum:iF0A7BF87007E321F
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 are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q6N017Q6N017_HUMAN
ATP-binding cassette sub-family A m...
ABCA5 DKFZp686K07118
431Annotation score:

Annotation score:2 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>
K7EJW6K7EJW6_HUMAN
ATP-binding cassette sub-family A m...
ABCA5
573Annotation score:

Annotation score:2 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>
K7EPM3K7EPM3_HUMAN
ATP-binding cassette sub-family A m...
ABCA5
917Annotation score:

Annotation score:2 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>
K7EMV2K7EMV2_HUMAN
ATP-binding cassette sub-family A m...
ABCA5
127Annotation 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>
A0A075B778A0A075B778_HUMAN
ATP-binding cassette sub-family A m...
ABCA5
250Annotation 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>
K7ENF9K7ENF9_HUMAN
ATP-binding cassette sub-family A m...
ABCA5
192Annotation 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>
K7EKS9K7EKS9_HUMAN
ATP-binding cassette sub-family A m...
ABCA5
63Annotation 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>
K7EQ50K7EQ50_HUMAN
ATP-binding cassette sub-family A m...
ABCA5
38Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB71700 differs from that shown. Reason: Erroneous initiation.Curated

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 conflicti1215Y → H in BAB71208 (PubMed:14702039).Curated1
Sequence conflicti1357V → I in CAB93535 (PubMed:12504089).Curated1
Sequence conflicti1366T → S in CAB93535 (PubMed:12504089).Curated1
Sequence conflicti1371D → G in BAB71208 (PubMed:14702039).Curated1
Sequence conflicti1419A → G in BAB71208 (PubMed:14702039).Curated1
Sequence conflicti1523K → R in BAB71208 (PubMed:14702039).Curated1

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_02757193Q → K. Corresponds to variant dbSNP:rs12383Ensembl.1
Natural variantiVAR_048128178A → T1 PublicationCorresponds to variant dbSNP:rs11544715Ensembl.1
Natural variantiVAR_027572484Q → R1 PublicationCorresponds to variant dbSNP:rs17686569Ensembl.1
Natural variantiVAR_027573753M → V. Corresponds to variant dbSNP:rs9898003Ensembl.1
Natural variantiVAR_027574832A → S3 PublicationsCorresponds to variant dbSNP:rs536009Ensembl.1
Natural variantiVAR_027575960M → V1 PublicationCorresponds to variant dbSNP:rs557491Ensembl.1
Natural variantiVAR_0481291260D → G. Corresponds to variant dbSNP:rs11544716Ensembl.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_0206901 – 777Missing in isoform 3. 1 PublicationAdd BLAST777
Alternative sequenceiVSP_020691922 – 925DSDI → GESV in isoform 2. 1 Publication4
Alternative sequenceiVSP_020692926 – 1642Missing in isoform 2. 1 PublicationAdd BLAST717

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
AY028897 mRNA Translation: AAK30022.1
AJ275973 mRNA Translation: CAB93535.3
AJ512612 mRNA Translation: CAD54757.1
AK056533 mRNA Translation: BAB71208.1
AK058170 mRNA Translation: BAB71700.1 Different initiation.
AB067475 mRNA Translation: BAB67781.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS11685.1 [Q8WWZ7-1]

NCBI Reference Sequences

More...RefSeqi		NP_061142.2, NM_018672.4 [Q8WWZ7-1]
NP_758424.1, NM_172232.3 [Q8WWZ7-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000392676; ENSP00000376443; ENSG00000154265 [Q8WWZ7-1]
ENST00000588877; ENSP00000467882; ENSG00000154265 [Q8WWZ7-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		23461

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:23461

UCSC genome browser

More...UCSCi		uc002jif.3 human [Q8WWZ7-1]

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
AY028897 mRNA Translation: AAK30022.1
AJ275973 mRNA Translation: CAB93535.3
AJ512612 mRNA Translation: CAD54757.1
AK056533 mRNA Translation: BAB71208.1
AK058170 mRNA Translation: BAB71700.1 Different initiation.
AB067475 mRNA Translation: BAB67781.1
CCDSiCCDS11685.1 [Q8WWZ7-1]
RefSeqiNP_061142.2, NM_018672.4 [Q8WWZ7-1]
NP_758424.1, NM_172232.3 [Q8WWZ7-1]

3D structure databases

SMRiQ8WWZ7
ModBaseiSearch...

Protein-protein interaction databases

BioGridi117024, 3 interactors
IntActiQ8WWZ7, 3 interactors
STRINGi9606.ENSP00000376443

Chemistry databases

DrugBankiDB00864 Tacrolimus

Protein family/group databases

TCDBi3.A.1.211.9 the atp-binding cassette (abc) superfamily

PTM databases

iPTMnetiQ8WWZ7
PhosphoSitePlusiQ8WWZ7

Polymorphism and mutation databases

BioMutaiABCA5
DMDMi115503762

Proteomic databases

EPDiQ8WWZ7
jPOSTiQ8WWZ7
MassIVEiQ8WWZ7
MaxQBiQ8WWZ7
PaxDbiQ8WWZ7
PeptideAtlasiQ8WWZ7
PRIDEiQ8WWZ7
ProteomicsDBi74970 [Q8WWZ7-1]
74971 [Q8WWZ7-2]
74972 [Q8WWZ7-3]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		23461
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000392676; ENSP00000376443; ENSG00000154265 [Q8WWZ7-1]
ENST00000588877; ENSP00000467882; ENSG00000154265 [Q8WWZ7-1]
GeneIDi23461
KEGGihsa:23461
UCSCiuc002jif.3 human [Q8WWZ7-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		23461
DisGeNETi23461

GeneCards: human genes, protein and diseases

More...GeneCardsi		ABCA5
HGNCiHGNC:35 ABCA5
HPAiHPA022032
HPA062904
MalaCardsiABCA5
MIMi612503 gene
neXtProtiNX_Q8WWZ7
OpenTargetsiENSG00000154265
Orphaneti2026 Gingival fibromatosis-hypertrichosis syndrome
PharmGKBiPA24380

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0059 Eukaryota
COG1131 LUCA
GeneTreeiENSGT00940000158172
HOGENOMiHOG000231057
InParanoidiQ8WWZ7
KOiK05648
OMAiATKYVSF
OrthoDBi773373at2759
PhylomeDBiQ8WWZ7
TreeFamiTF105192

Enzyme and pathway databases

ReactomeiR-HSA-1369062 ABC transporters in lipid homeostasis

Miscellaneous databases

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

More...ChiTaRSi		ABCA5 human

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

More...GenomeRNAii		23461

Pharos

More...Pharosi		Q8WWZ7

Protein Ontology

More...PROi		PR:Q8WWZ7

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000154265 Expressed in 227 organ(s), highest expression level in intestine
ExpressionAtlasiQ8WWZ7 baseline and differential
GenevisibleiQ8WWZ7 HS

Family and domain databases

InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR003439 ABC_transporter-like
IPR017871 ABC_transporter_CS
IPR026082 ABCA
IPR030367 ABCA5
IPR027417 P-loop_NTPase
PANTHERiPTHR19229 PTHR19229, 1 hit
PTHR19229:SF100 PTHR19229:SF100, 1 hit
PfamiView protein in Pfam
PF00005 ABC_tran, 2 hits
SMARTiView protein in SMART
SM00382 AAA, 2 hits
SUPFAMiSSF52540 SSF52540, 2 hits
PROSITEiView protein in PROSITE
PS00211 ABC_TRANSPORTER_1, 1 hit
PS50893 ABC_TRANSPORTER_2, 2 hits

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 nameiABCA5_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: Q8WWZ7
Secondary accession number(s): Q8IVJ2
, Q96LJ1, Q96MS4, Q96PZ9, Q9NY14
<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: October 3, 2006
Last sequence update: October 3, 2006
Last modified: September 18, 2019
This is version 133 of the entry and version 2 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 chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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