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Entry version 46 (10 Feb 2021)
Sequence version 1 (29 Oct 2014)
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Protein
Submitted name:

Retinal-specific phospholipid-transporting ATPase ABCA4

Gene

ABCA4

Organism
Homo sapiens (Human)
Status
Unreviewed-Annotation 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>
-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

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 bindingi764 – 771ATPPROSITE-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

<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

LigandATP-bindingPROSITE-ProRule annotationARBA annotation, Nucleotide-binding

<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%5Fand%5Ftaxonomy%5Fsection">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
Submitted name:
Retinal-specific phospholipid-transporting ATPase ABCA4Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:ABCA4Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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)Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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:34, ABCA4

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000198691.11

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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>Transmembranei165 – 186HelicalSequence analysisAdd BLAST22
Transmembranei472 – 494HelicalSequence analysisAdd BLAST23
Transmembranei524 – 541HelicalSequence analysisAdd BLAST18
Transmembranei553 – 571HelicalSequence analysisAdd BLAST19
Transmembranei583 – 608HelicalSequence analysisAdd BLAST26

Keywords - Cellular componenti

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

Open Targets

More...
OpenTargetsi
ENSG00000198691

<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

Proteomic databases

PeptideAtlas

More...
PeptideAtlasi
F6TT59

PRoteomics IDEntifications database

More...
PRIDEi
F6TT59

<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
ENSG00000198691, Expressed in pigmented layer of retina and 118 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
F6TT59, baseline and differential

<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%5Fand%5Fdomains%5Fsection">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>Domaini730 – 962ABC transporterInterPro annotationAdd BLAST233

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>Regioni76 – 137DisorderedSequence analysisAdd BLAST62

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi119 – 133Pro-richSequence analysisAdd BLAST15

Keywords - Domaini

Transmembrane, Transmembrane helixSequence analysis

Phylogenomic databases

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000155624

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_000604_19_5_1

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
IPR026082, ABCA
IPR027417, P-loop_NTPase

The PANTHER Classification System

More...
PANTHERi
PTHR19229, PTHR19229, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
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

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
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%5Flength">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>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

F6TT59-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDVVLHHVPE AKLVECIGQE LIFLLPNKNF KHRAYASLFR ELEETLADLG
60 70 80 90 100
LSSFGISDTP LEEIFLKVTE DSDSGPLFAG GAQQKRENVN PRHPCLGPRE
110 120 130 140 150
KAGQTPQDSN VCSPGAPAAH PEGQPPPEPE CPGPQLNTGT QLVLQHVQAL
160 170 180 190 200
LVKRFQHTIR SHKDFLAQIV LPATFVFLAL MLSIVIPPFG EYPALTLHPW
210 220 230 240 250
IYGQQYTFFS MDEPGSEQFT VLADVLLNKP GFGNRCLKEG WLPEYPCGNS
260 270 280 290 300
TPWKTPSVSP NITQLFQKQK WTQVNPSPSC RCSTREKLTM LPECPEGAGG
310 320 330 340 350
LPPPQRTQRS TEILQDLTDR NISDFLVKTY PALIRSSLKS KFWVNEQRYG
360 370 380 390 400
GISIGGKLPV VPITGEALVG FLSDLGRIMN VSGGPITREA SKEIPDFLKH
410 420 430 440 450
LETEDNIKVW FNNKGWHALV SFLNVAHNAI LRASLPKDRS PEEYGITVIS
460 470 480 490 500
QPLNLTKEQL SEITVLTTSV DAVVAICVIF SMSFVPASFV LYLIQERVNK
510 520 530 540 550
SKHLQFISGV SPTTYWVTNF LWDIMNYSVS AGLVVGIFIG FQKKAYTSPE
560 570 580 590 600
NLPALVALLL LYGWAVIPMM YPASFLFDVP STAYVALSCA NLFIGINSSA
610 620 630 640 650
ITFILELFEN NRTLLRFNAV LRKLLIVFPH FCLGRGLIDL ALSQAVTDVY
660 670 680 690 700
ARFGEEHSAN PFHWDLIGKN LFAMVVEGVV YFLLTLLVQR HFFLSQWIAE
710 720 730 740 750
PTKEPIVDED DDVAEERQRI ITGGNKTDIL RLHELTKIYP GTSSPAVDRL
760 770 780 790 800
CVGVRPGECF GLLGVNGAGK TTTFKMLTGD TTVTSGDATV AGKSILTNIS
810 820 830 840 850
EVHQNMGYCP QFDAIDELLT GREHLYLYAR LRGVPAEEIE KVANWSIKSL
860 870 880 890 900
GLTVYADCLA GTYSGGNKRK LSTAIALIGC PPLVLLDEPT TGMDPQARRM
910 920 930 940 950
LWNVIVSIIR EGRAVVLTSH SMEECEALCT RLAIMVKGAF RCMGTIQHLK
960 970 980 990 1000
SKFGDGYIVT MKIKSPKDDL LPDLNPVEQF FQGNFPGSVQ RERHYNMLQF
1010 1020 1030 1040 1050
QVSSSSLARI FQLLLSHKDS LLIEEYSVTQ TTLDQVFVNF AKQQTESHDL
1060
PLHPRAAGAS RQAQD
Length:1,065
Mass (Da):118,139
Last modified:October 29, 2014 - 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:iFDE302A93F3EEA7A
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
P78363ABCA4_HUMAN
Retinal-specific phospholipid-trans...
ABCA4 ABCR
2,273Annotation 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>
A0A3B3IRV8A0A3B3IRV8_HUMAN
Retinal-specific phospholipid-trans...
ABCA4
979Annotation 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>

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
AC093579 Genomic DNA No translation available.
AC105278 Genomic DNA No translation available.

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000536513; ENSP00000439707; ENSG00000198691

UCSC genome browser

More...
UCSCi
uc057ilb.1, human

<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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC093579 Genomic DNA No translation available.
AC105278 Genomic DNA No translation available.

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...

Proteomic databases

PeptideAtlasiF6TT59
PRIDEiF6TT59

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
33661, 180 antibodies

Genome annotation databases

EnsembliENST00000536513; ENSP00000439707; ENSG00000198691
UCSCiuc057ilb.1, human

Organism-specific databases

HGNCiHGNC:34, ABCA4
OpenTargetsiENSG00000198691
VEuPathDBiHostDB:ENSG00000198691.11

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

GeneTreeiENSGT00940000155624
HOGENOMiCLU_000604_19_5_1

Miscellaneous databases

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

More...
ChiTaRSi
ABCA4, human

Gene expression databases

BgeeiENSG00000198691, Expressed in pigmented layer of retina and 118 other tissues
ExpressionAtlasiF6TT59, baseline and differential

Family and domain databases

InterProiView protein in InterPro
IPR003593, AAA+_ATPase
IPR003439, ABC_transporter-like
IPR026082, ABCA
IPR027417, P-loop_NTPase
PANTHERiPTHR19229, PTHR19229, 1 hit
PfamiView protein in Pfam
PF00005, ABC_tran, 1 hit
SMARTiView protein in SMART
SM00382, AAA, 1 hit
SUPFAMiSSF52540, SSF52540, 1 hit
PROSITEiView protein in PROSITE
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 nameiF6TT59_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: F6TT59
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/TrEMBL: October 29, 2014
Last sequence update: October 29, 2014
Last modified: February 10, 2021
This is version 46 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 statusiUnreviewed (UniProtKB/TrEMBL)
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

Proteomics identificationCombined sources, Reference proteomeImported
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