Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 142 (16 Oct 2019)
Sequence version 3 (04 Dec 2007)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Phospholipid-transporting ATPase ABCA7

Gene

ABCA7

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

Catalyzes the translocation of specific phospholipids from the cytoplasmic to the extracellular/lumenal leaflet of membrane coupled to the hydrolysis of ATP (PubMed:24097981). Transports preferentially phosphatidylserine over phosphatidylcholine (PubMed:24097981). Plays a role in lipid homeostasis and macrophage-mediated phagocytosis (PubMed:14592415, PubMed:12917409, PubMed:12925201, PubMed:14570867). Binds APOA1 and may function in apolipoprotein-mediated phospholipid efflux from cells (PubMed:12917409, PubMed:14570867, PubMed:14592415). May also mediate cholesterol efflux (PubMed:14570867). May regulate cellular ceramide homeostasis during keratinocyte differentiation (PubMed:12925201). Involved in lipid raft organization and CD1D localization on thymocytes and antigen-presenting cells, which plays an important role in natural killer T-cell development and activation (By similarity). Plays a role in phagocytosis of apoptotic cells by macrophages (By similarity). Macrophage phagocytosis is stimulated by APOA1 or APOA2, probably by stabilization of ABCA7 (By similarity). Also involved in phagocytic clearance of amyloid-beta by microglia cells and macrophages (By similarity). Further limits amyloid-beta production by playing a role in the regulation of amyloid-beta A4 precursor protein (APP) endocytosis and/or processing (PubMed:26260791). Amyloid-beta is the main component of amyloid plaques found in the brains of Alzheimer patients (PubMed:26260791).By similarity6 Publications

Caution

There are conflicting results concerning the role of ABCA7 in lipid transport. ABCA7 was described to play a role in apolipoprotein-mediated phospholipid and cholesterol efflux when expressed in HEK293 cells (PubMed:12917409, PubMed:27472885). However, another report shows that ABCA7 deficiency does not influence cholesterol and phospholipid efflux in mouse primary macrophages, but leads to lower serum HDL cholesterol levels and a reduction in fat mass in female mice (By similarity).By similarity2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

  • ATP + H(2)O + phospholipid(Side 1) = ADP + phosphate + phospholipid(Side 2).1 Publication EC:7.6.2.1

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

ATPase activity is decreased by cholesterol and ceramide. ATPase activity is stimulated by phosphatidylserine, phosphatidylcholine and sphingomyelin, but phosphatidylserine is more effective.1 Publication

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 bindingi841 – 848ATP 1PROSITE-ProRule annotation8
Nucleotide bindingi1827 – 1834ATP 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

GO - Biological processi

<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

Molecular functionTranslocase
Biological processPhagocytosis, Transport
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.1.211.10 the atp-binding cassette (abc) superfamily

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000000346

<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:
Phospholipid-transporting ATPase ABCA7Curated (EC:7.6.2.11 Publication)
Alternative name(s):
ABCA-SSN1 Publication
ATP-binding cassette sub-family A member 7Curated
Autoantigen SS-N1 Publication
Macrophage ABC transporter1 Publication
<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:ABCA7Imported
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 19

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:37 ABCA7

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605414 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8IZY2

<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>Transmembranei22 – 42HelicalSequence analysisAdd BLAST21
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini43 – 549ExtracellularBy similarityAdd BLAST507
Transmembranei550 – 570HelicalSequence analysisAdd BLAST21
Transmembranei593 – 613HelicalSequence analysisAdd BLAST21
Transmembranei626 – 646HelicalSequence analysisAdd BLAST21
Transmembranei655 – 675HelicalSequence analysisAdd BLAST21
Transmembranei687 – 707HelicalSequence analysisAdd BLAST21
Transmembranei727 – 747HelicalSequence analysisAdd BLAST21
Transmembranei849 – 869HelicalSequence analysisAdd BLAST21
Transmembranei1243 – 1263HelicalSequence analysisAdd BLAST21
Topological domaini1264 – 1537ExtracellularBy similarityAdd BLAST274
Transmembranei1538 – 1558HelicalSequence analysisAdd BLAST21
Transmembranei1584 – 1604HelicalSequence analysisAdd BLAST21
Transmembranei1621 – 1641HelicalSequence analysisAdd BLAST21
Transmembranei1649 – 1669HelicalSequence analysisAdd BLAST21
Transmembranei1683 – 1703HelicalSequence analysisAdd BLAST21
Transmembranei1729 – 1749HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cell membrane, Cell projection, Cytoplasm, Endoplasmic reticulum, Endosome, Golgi apparatus, 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

<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

Alzheimer disease 9 (AD9)3 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA familial, late-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death.
Related information in OMIM
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_081204880R → Q in AD9. 1 PublicationCorresponds to variant dbSNP:rs143718918EnsemblClinVar.1

Keywords - Diseasei

Alzheimer disease, Amyloidosis, Neurodegeneration

Organism-specific databases

DisGeNET

More...
DisGeNETi
10347

MalaCards human disease database

More...
MalaCardsi
ABCA7
MIMi608907 phenotype

NIAGADS Genomics Database

More...
NIAGADSi
ENSG00000064687

Open Targets

More...
OpenTargetsi
ENSG00000064687

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

More...
Orphaneti
1020 Early-onset autosomal dominant Alzheimer disease
238616 NON RARE IN EUROPE: Alzheimer disease

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24382

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8IZY2

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ABCA7

Domain mapping of disease mutations (DMDM)

More...
DMDMi
161784300

<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_00002506741 – 2146Phospholipid-transporting ATPase ABCA7Add BLAST2146

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi75 ↔ 225By similarity
<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>Glycosylationi312N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1345 ↔ 1359By similarity

<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

Disulfide bond, Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8IZY2

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8IZY2

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8IZY2

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

More...
PaxDbi
Q8IZY2

PeptideAtlas

More...
PeptideAtlasi
Q8IZY2

PRoteomics IDEntifications database

More...
PRIDEi
Q8IZY2

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
71441 [Q8IZY2-1]
71442 [Q8IZY2-2]

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1022

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8IZY2

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

More...
PhosphoSitePlusi
Q8IZY2

<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

Expressed in leukocytes (at protein level) (PubMed:10873640). Widely expressed (PubMed:10873640). Highly expressed in myelo-lymphatic tissues including peripheral leukocytes, thymus, spleen and bone marrow (PubMed:10873640, PubMed:11435699). Expressed in the hippocampus and the cerebellum (PubMed:27472885). Isoform 2: Abundant in lymph node, spleen, thymus and trachea (PubMed:14592415). Isoform 1: Strongly expressed in brain and bone marrow (PubMed:14592415).4 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 tissues. Strongly expressed in fetal liver.2 Publications

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Up-regulated in macrophages upon cholesterol uptake and inversely regulated upon cholesterol deloading from the cells (at protein level). Up-regulated in keratinocytes during terminal differentiation.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000064687 Expressed in 178 organ(s), highest expression level in adenohypophysis

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8IZY2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8IZY2 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA041564

<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
115629, 8 interactors

Protein interaction database and analysis system

More...
IntActi
Q8IZY2, 12 interactors

Molecular INTeraction database

More...
MINTi
Q8IZY2

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000263094

<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
Q8IZY2

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>Domaini807 – 1038ABC transporter 1PROSITE-ProRule annotationAdd BLAST232
Domaini1793 – 2025ABC transporter 2PROSITE-ProRule annotationAdd BLAST233

<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

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
ENSGT00940000161439

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231547

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8IZY2

KEGG Orthology (KO)

More...
KOi
K05645

Identification of Orthologs from Complete Genome Data

More...
OMAi
LPYSHPG

Database of Orthologous Groups

More...
OrthoDBi
131191at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8IZY2

TreeFam database of animal gene trees

More...
TreeFami
TF105191

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
IPR030369 ABCA7
IPR027417 P-loop_NTPase

The PANTHER Classification System

More...
PANTHERi
PTHR19229 PTHR19229, 1 hit
PTHR19229:SF49 PTHR19229:SF49, 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 (2+)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 2 <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 2 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8IZY2-1) [UniParc]FASTAAdd to basket
Also known as: Type 1

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
MAFWTQLMLL LWKNFMYRRR QPVQLLVELL WPLFLFFILV AVRHSHPPLE
60 70 80 90 100
HHECHFPNKP LPSAGTVPWL QGLICNVNNT CFPQLTPGEE PGRLSNFNDS
110 120 130 140 150
LVSRLLADAR TVLGGASAHR TLAGLGKLIA TLRAARSTAQ PQPTKQSPLE
160 170 180 190 200
PPMLDVAELL TSLLRTESLG LALGQAQEPL HSLLEAAEDL AQELLALRSL
210 220 230 240 250
VELRALLQRP RGTSGPLELL SEALCSVRGP SSTVGPSLNW YEASDLMELV
260 270 280 290 300
GQEPESALPD SSLSPACSEL IGALDSHPLS RLLWRRLKPL ILGKLLFAPD
310 320 330 340 350
TPFTRKLMAQ VNRTFEELTL LRDVREVWEM LGPRIFTFMN DSSNVAMLQR
360 370 380 390 400
LLQMQDEGRR QPRPGGRDHM EALRSFLDPG SGGYSWQDAH ADVGHLVGTL
410 420 430 440 450
GRVTECLSLD KLEAAPSEAA LVSRALQLLA EHRFWAGVVF LGPEDSSDPT
460 470 480 490 500
EHPTPDLGPG HVRIKIRMDI DVVTRTNKIR DRFWDPGPAA DPLTDLRYVW
510 520 530 540 550
GGFVYLQDLV ERAAVRVLSG ANPRAGLYLQ QMPYPCYVDD VFLRVLSRSL
560 570 580 590 600
PLFLTLAWIY SVTLTVKAVV REKETRLRDT MRAMGLSRAV LWLGWFLSCL
610 620 630 640 650
GPFLLSAALL VLVLKLGDIL PYSHPGVVFL FLAAFAVATV TQSFLLSAFF
660 670 680 690 700
SRANLAAACG GLAYFSLYLP YVLCVAWRDR LPAGGRVAAS LLSPVAFGFG
710 720 730 740 750
CESLALLEEQ GEGAQWHNVG TRPTADVFSL AQVSGLLLLD AALYGLATWY
760 770 780 790 800
LEAVCPGQYG IPEPWNFPFR RSYWCGPRPP KSPAPCPTPL DPKVLVEEAP
810 820 830 840 850
PGLSPGVSVR SLEKRFPGSP QPALRGLSLD FYQGHITAFL GHNGAGKTTT
860 870 880 890 900
LSILSGLFPP SGGSAFILGH DVRSSMAAIR PHLGVCPQYN VLFDMLTVDE
910 920 930 940 950
HVWFYGRLKG LSAAVVGPEQ DRLLQDVGLV SKQSVQTRHL SGGMQRKLSV
960 970 980 990 1000
AIAFVGGSQV VILDEPTAGV DPASRRGIWE LLLKYREGRT LILSTHHLDE
1010 1020 1030 1040 1050
AELLGDRVAV VAGGRLCCCG SPLFLRRHLG SGYYLTLVKA RLPLTTNEKA
1060 1070 1080 1090 1100
DTDMEGSVDT RQEKKNGSQG SRVGTPQLLA LVQHWVPGAR LVEELPHELV
1110 1120 1130 1140 1150
LVLPYTGAHD GSFATLFREL DTRLAELRLT GYGISDTSLE EIFLKVVEEC
1160 1170 1180 1190 1200
AADTDMEDGS CGQHLCTGIA GLDVTLRLKM PPQETALENG EPAGSAPETD
1210 1220 1230 1240 1250
QGSGPDAVGR VQGWALTRQQ LQALLLKRFL LARRSRRGLF AQIVLPALFV
1260 1270 1280 1290 1300
GLALVFSLIV PPFGHYPALR LSPTMYGAQV SFFSEDAPGD PGRARLLEAL
1310 1320 1330 1340 1350
LQEAGLEEPP VQHSSHRFSA PEVPAEVAKV LASGNWTPES PSPACQCSRP
1360 1370 1380 1390 1400
GARRLLPDCP AAAGGPPPPQ AVTGSGEVVQ NLTGRNLSDF LVKTYPRLVR
1410 1420 1430 1440 1450
QGLKTKKWVN EVRYGGFSLG GRDPGLPSGQ ELGRSVEELW ALLSPLPGGA
1460 1470 1480 1490 1500
LDRVLKNLTA WAHSLDAQDS LKIWFNNKGW HSMVAFVNRA SNAILRAHLP
1510 1520 1530 1540 1550
PGPARHAHSI TTLNHPLNLT KEQLSEGALM ASSVDVLVSI CVVFAMSFVP
1560 1570 1580 1590 1600
ASFTLVLIEE RVTRAKHLQL MGGLSPTLYW LGNFLWDMCN YLVPACIVVL
1610 1620 1630 1640 1650
IFLAFQQRAY VAPANLPALL LLLLLYGWSI TPLMYPASFF FSVPSTAYVV
1660 1670 1680 1690 1700
LTCINLFIGI NGSMATFVLE LFSDQKLQEV SRILKQVFLI FPHFCLGRGL
1710 1720 1730 1740 1750
IDMVRNQAMA DAFERLGDRQ FQSPLRWEVV GKNLLAMVIQ GPLFLLFTLL
1760 1770 1780 1790 1800
LQHRSQLLPQ PRVRSLPLLG EEDEDVARER ERVVQGATQG DVLVLRNLTK
1810 1820 1830 1840 1850
VYRGQRMPAV DRLCLGIPPG ECFGLLGVNG AGKTSTFRMV TGDTLASRGE
1860 1870 1880 1890 1900
AVLAGHSVAR EPSAAHLSMG YCPQSDAIFE LLTGREHLEL LARLRGVPEA
1910 1920 1930 1940 1950
QVAQTAGSGL ARLGLSWYAD RPAGTYSGGN KRKLATALAL VGDPAVVFLD
1960 1970 1980 1990 2000
EPTTGMDPSA RRFLWNSLLA VVREGRSVML TSHSMEECEA LCSRLAIMVN
2010 2020 2030 2040 2050
GRFRCLGSPQ HLKGRFAAGH TLTLRVPAAR SQPAAAFVAA EFPGAELREA
2060 2070 2080 2090 2100
HGGRLRFQLP PGGRCALARV FGELAVHGAE HGVEDFSVSQ TMLEEVFLYF
2110 2120 2130 2140
SKDQGKDEDT EEQKEAGVGV DPAPGLQHPK RVSQFLDDPS TAETVL
Length:2,146
Mass (Da):234,350
Last modified:December 4, 2007 - v3
<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:i6EA624088E74FEE6
GO
Isoform 2 (identifier: Q8IZY2-2) [UniParc]FASTAAdd to basket
Also known as: Type 2

The sequence of this isoform differs from the canonical sequence as follows:
     1-138: Missing.
     139-166: AQPQPTKQSPLEPPMLDVAELLTSLLRT → MVCLGTGQSAGPLVSVQNHCPPCGLSPQ

Note: Inactive for apoA-I-mediated lipid release.
Show »
Length:2,008
Mass (Da):218,497
Checksum:i2B52CABF87220A7B
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 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YCN5H0YCN5_HUMAN
Phospholipid-transporting ATPase AB...
ABCA7
591Annotation 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>
A0A087WZX6A0A087WZX6_HUMAN
Phospholipid-transporting ATPase AB...
ABCA7
280Annotation 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>
A0A087WX86A0A087WX86_HUMAN
Phospholipid-transporting ATPase AB...
ABCA7
96Annotation 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>
H0YF58H0YF58_HUMAN
Phospholipid-transporting ATPase AB...
ABCA7
62Annotation 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>
E9PKG5E9PKG5_HUMAN
Phospholipid-transporting ATPase AB...
ABCA7
136Annotation 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>
E9PL63E9PL63_HUMAN
Phospholipid-transporting ATPase AB...
ABCA7
164Annotation 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>
A0A087WUR5A0A087WUR5_HUMAN
Phospholipid-transporting ATPase AB...
ABCA7
36Annotation 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 conflicti1503P → R in AAF85794 (PubMed:10873640).Curated1
Sequence conflicti1503P → R in BAB62294 (PubMed:11355874).Curated1
Sequence conflicti1525S → F in AAF85794 (PubMed:10873640).Curated1
Sequence conflicti1525S → F in AAN04657 (PubMed:11095984).Curated1
Sequence conflicti1525S → F in BAB62294 (PubMed:11355874).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_027581188E → G2 PublicationsCorresponds to variant dbSNP:rs3764645Ensembl.1
Natural variantiVAR_027582319T → A1 PublicationCorresponds to variant dbSNP:rs3752232Ensembl.1
Natural variantiVAR_027583395H → R1 PublicationCorresponds to variant dbSNP:rs3764647Ensembl.1
Natural variantiVAR_027584463R → H1 PublicationCorresponds to variant dbSNP:rs3752233Ensembl.1
Natural variantiVAR_060985676A → T. Corresponds to variant dbSNP:rs59851484Ensembl.1
Natural variantiVAR_027585718N → T1 PublicationCorresponds to variant dbSNP:rs3752239Ensembl.1
Natural variantiVAR_081204880R → Q in AD9. 1 PublicationCorresponds to variant dbSNP:rs143718918EnsemblClinVar.1
Natural variantiVAR_0275861349R → Q3 PublicationsCorresponds to variant dbSNP:rs3745842Ensembl.1
Natural variantiVAR_0275871527G → A4 PublicationsCorresponds to variant dbSNP:rs3752246Ensembl.1
Natural variantiVAR_0275881686Q → R1 PublicationCorresponds to variant dbSNP:rs4147918Ensembl.1
Natural variantiVAR_0275892045A → S4 PublicationsCorresponds to variant dbSNP:rs4147934Ensembl.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_0207011 – 138Missing in isoform 2. 1 PublicationAdd BLAST138
Alternative sequenceiVSP_020702139 – 166AQPQP…SLLRT → MVCLGTGQSAGPLVSVQNHC PPCGLSPQ in isoform 2. 1 PublicationAdd BLAST28

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
AF250238 mRNA Translation: AAF85794.1
AF311102
, AF311058, AF311059, AF311060, AF311061, AF311062, AF311063, AF311064, AF311065, AF311066, AF311067, AF311068, AF311057, AF311069, AF311070, AF311071, AF311072, AF311073, AF311074, AF311075, AF311076, AF311077, AF311078, AF311079, AF311080, AF311081, AF311082, AF311083, AF311084, AF311085, AF311086, AF311087, AF311088, AF311089, AF311090, AF311091, AF311092, AF311093, AF311094, AF311095, AF311096, AF311097, AF311098, AF311099, AF311100, AF311101 Genomic DNA Translation: AAN04657.1
AB055390 mRNA Translation: BAB62294.1
AF328787 mRNA Translation: AAK00959.1
AC011558 Genomic DNA No translation available.
AF140342 mRNA Translation: AAF06727.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS12055.1 [Q8IZY2-1]

NCBI Reference Sequences

More...
RefSeqi
NP_061985.2, NM_019112.3 [Q8IZY2-1]
XP_011525930.1, XM_011527628.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000263094; ENSP00000263094; ENSG00000064687 [Q8IZY2-1]
ENST00000433129; ENSP00000414062; ENSG00000064687 [Q8IZY2-1]
ENST00000435683; ENSP00000465322; ENSG00000064687 [Q8IZY2-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
10347

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:10347

UCSC genome browser

More...
UCSCi
uc002lqw.5 human [Q8IZY2-1]

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
AF250238 mRNA Translation: AAF85794.1
AF311102
, AF311058, AF311059, AF311060, AF311061, AF311062, AF311063, AF311064, AF311065, AF311066, AF311067, AF311068, AF311057, AF311069, AF311070, AF311071, AF311072, AF311073, AF311074, AF311075, AF311076, AF311077, AF311078, AF311079, AF311080, AF311081, AF311082, AF311083, AF311084, AF311085, AF311086, AF311087, AF311088, AF311089, AF311090, AF311091, AF311092, AF311093, AF311094, AF311095, AF311096, AF311097, AF311098, AF311099, AF311100, AF311101 Genomic DNA Translation: AAN04657.1
AB055390 mRNA Translation: BAB62294.1
AF328787 mRNA Translation: AAK00959.1
AC011558 Genomic DNA No translation available.
AF140342 mRNA Translation: AAF06727.1
CCDSiCCDS12055.1 [Q8IZY2-1]
RefSeqiNP_061985.2, NM_019112.3 [Q8IZY2-1]
XP_011525930.1, XM_011527628.2

3D structure databases

SMRiQ8IZY2
ModBaseiSearch...

Protein-protein interaction databases

BioGridi115629, 8 interactors
IntActiQ8IZY2, 12 interactors
MINTiQ8IZY2
STRINGi9606.ENSP00000263094

Chemistry databases

SwissLipidsiSLP:000000346

Protein family/group databases

TCDBi3.A.1.211.10 the atp-binding cassette (abc) superfamily

PTM databases

GlyConnecti1022
iPTMnetiQ8IZY2
PhosphoSitePlusiQ8IZY2

Polymorphism and mutation databases

BioMutaiABCA7
DMDMi161784300

Proteomic databases

jPOSTiQ8IZY2
MassIVEiQ8IZY2
MaxQBiQ8IZY2
PaxDbiQ8IZY2
PeptideAtlasiQ8IZY2
PRIDEiQ8IZY2
ProteomicsDBi71441 [Q8IZY2-1]
71442 [Q8IZY2-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
10347

Genome annotation databases

EnsembliENST00000263094; ENSP00000263094; ENSG00000064687 [Q8IZY2-1]
ENST00000433129; ENSP00000414062; ENSG00000064687 [Q8IZY2-1]
ENST00000435683; ENSP00000465322; ENSG00000064687 [Q8IZY2-2]
GeneIDi10347
KEGGihsa:10347
UCSCiuc002lqw.5 human [Q8IZY2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
10347
DisGeNETi10347

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ABCA7
HGNCiHGNC:37 ABCA7
HPAiHPA041564
MalaCardsiABCA7
MIMi605414 gene
608907 phenotype
neXtProtiNX_Q8IZY2
NIAGADSiENSG00000064687
OpenTargetsiENSG00000064687
Orphaneti1020 Early-onset autosomal dominant Alzheimer disease
238616 NON RARE IN EUROPE: Alzheimer disease
PharmGKBiPA24382

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0059 Eukaryota
COG1131 LUCA
GeneTreeiENSGT00940000161439
HOGENOMiHOG000231547
InParanoidiQ8IZY2
KOiK05645
OMAiLPYSHPG
OrthoDBi131191at2759
PhylomeDBiQ8IZY2
TreeFamiTF105191

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
ABCA7 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
ABCA7

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

More...
GenomeRNAii
10347
PharosiQ8IZY2

Protein Ontology

More...
PROi
PR:Q8IZY2

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000064687 Expressed in 178 organ(s), highest expression level in adenohypophysis
ExpressionAtlasiQ8IZY2 baseline and differential
GenevisibleiQ8IZY2 HS

Family and domain databases

InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR003439 ABC_transporter-like
IPR017871 ABC_transporter_CS
IPR026082 ABCA
IPR030369 ABCA7
IPR027417 P-loop_NTPase
PANTHERiPTHR19229 PTHR19229, 1 hit
PTHR19229:SF49 PTHR19229:SF49, 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 nameiABCA7_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: Q8IZY2
Secondary accession number(s): Q96S58
, Q9BZC4, Q9NR73, Q9UKP8
<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: December 4, 2007
Last modified: October 16, 2019
This is version 142 of the entry and version 3 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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again