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UniProtKB - Q8IUA7 (ABCA9_HUMAN)

Entry version 139 (10 Feb 2021)
Sequence version 1 (01 Mar 2003)
Previous versions | rss
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Protein

ATP-binding cassette sub-family A member 9

Gene

ABCA9

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

May play a role in monocyte differentiation and lipid homeostasis.1 Publication

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 bindingi517 – 524ATP 1PROSITE-ProRule annotation8
Nucleotide bindingi1326 – 1333ATP 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

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8IUA7

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.1.211.16, 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%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
Recommended name:
ATP-binding cassette sub-family A member 9
<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:ABCA9
<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)
<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 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%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 17

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:39, ABCA9

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		612507, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8IUA7

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000154258.16

<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>Transmembranei31 – 51HelicalSequence analysisAdd BLAST21
Transmembranei221 – 243HelicalSequence analysisAdd BLAST23
Transmembranei269 – 289HelicalSequence analysisAdd BLAST21
Transmembranei300 – 320HelicalSequence analysisAdd BLAST21
Transmembranei329 – 349HelicalSequence analysisAdd BLAST21
Transmembranei354 – 374HelicalSequence analysisAdd BLAST21
Transmembranei398 – 418HelicalSequence analysisAdd BLAST21
Transmembranei864 – 884HelicalSequence analysisAdd BLAST21
Transmembranei1026 – 1046HelicalSequence analysisAdd BLAST21
Transmembranei1065 – 1085HelicalSequence analysisAdd BLAST21
Transmembranei1108 – 1128HelicalSequence analysisAdd BLAST21
Transmembranei1136 – 1156HelicalSequence analysisAdd BLAST21
Transmembranei1163 – 1183HelicalSequence analysisAdd BLAST21
Transmembranei1200 – 1220HelicalSequence analysisAdd BLAST21

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

DisGeNET

More...DisGeNETi		10350

Open Targets

More...OpenTargetsi		ENSG00000154258

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA24384

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8IUA7, Tdark

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ABCA9

Domain mapping of disease mutations (DMDM)

More...DMDMi		74762471

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002506801 – 1624ATP-binding cassette sub-family A member 9Add BLAST1624

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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>Glycosylationi120N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi195N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi949N-linked (GlcNAc...) asparagine1 Publication1

Keywords - PTMi

Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8IUA7

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8IUA7

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

More...PaxDbi		Q8IUA7

PeptideAtlas

More...PeptideAtlasi		Q8IUA7

PRoteomics IDEntifications database

More...PRIDEi		Q8IUA7

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		70529 [Q8IUA7-1]
70530 [Q8IUA7-2]
70531 [Q8IUA7-3]
70532 [Q8IUA7-4]
70533 [Q8IUA7-5]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q8IUA7, 3 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8IUA7

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

More...PhosphoSitePlusi		Q8IUA7

<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

Widely expressed with higher expression in heart.1 Publication

<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 with higher expression in fetal heart and kidney.1 Publication

<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 during monocyte differentiation into macrophages. Down-regulated by cholesterol loading of macrophages.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000154258, Expressed in sural nerve and 189 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8IUA7, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8IUA7, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000154258, Tissue enhanced (adipose)

<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		115631, 4 interactors

Protein interaction database and analysis system

More...IntActi		Q8IUA7, 2 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000342216

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8IUA7, protein

<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		Q8IUA7

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%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>Domaini481 – 716ABC transporter 1PROSITE-ProRule annotationAdd BLAST236
Domaini1288 – 1521ABC transporter 2PROSITE-ProRule annotationAdd BLAST234

<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

Ensembl GeneTree

More...GeneTreei		ENSGT00940000162444

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_054320_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8IUA7

Identification of Orthologs from Complete Genome Data

More...OMAi		TGVNMKI

Database of Orthologous Groups

More...OrthoDBi		131191at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8IUA7

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
IPR026082, ABCA
IPR030370, ABCA9
IPR027417, P-loop_NTPase

The PANTHER Classification System

More...PANTHERi		PTHR19229, PTHR19229, 1 hit
PTHR19229:SF120, PTHR19229:SF120, 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
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%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>Sequences (5+)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 describes 5 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8IUA7-1) [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
MSKRRMSVGQ QTWALLCKNC LKKWRMKRQT LLEWLFSFLL VLFLYLFFSN 
        60         70         80         90        100
LHQVHDTPQM SSMDLGRVDS FNDTNYVIAF APESKTTQEI MNKVASAPFL 
       110        120        130        140        150
KGRTIMGWPD EKSMDELDLN YSIDAVRVIF TDTFSYHLKF SWGHRIPMMK 
       160        170        180        190        200
EHRDHSAHCQ AVNEKMKCEG SEFWEKGFVA FQAAINAAII EIATNHSVME 
       210        220        230        240        250
QLMSVTGVHM KILPFVAQGG VATDFFIFFC IISFSTFIYY VSVNVTQERQ 
       260        270        280        290        300
YITSLMTMMG LRESAFWLSW GLMYAGFILI MATLMALIVK SAQIVVLTGF 
       310        320        330        340        350
VMVFTLFLLY GLSLITLAFL MSVLIKKPFL TGLVVFLLIV FWGILGFPAL 
       360        370        380        390        400
YTRLPAFLEW TLCLLSPFAF TVGMAQLIHL DYDVNSNAHL DSSQNPYLII 
       410        420        430        440        450
ATLFMLVFDT LLYLVLTLYF DKILPAEYGH RCSPLFFLKS CFWFQHGRAN 
       460        470        480        490        500
HVVLENETDS DPTPNDCFEP VSPEFCGKEA IRIKNLKKEY AGKCERVEAL 
       510        520        530        540        550
KGVVFDIYEG QITALLGHSG AGKTTLLNIL SGLSVPTSGS VTVYNHTLSR 
       560        570        580        590        600
MADIENISKF TGFCPQSNVQ FGFLTVKENL RLFAKIKGIL PHEVEKEVQR 
       610        620        630        640        650
VVQELEMENI QDILAQNLSG GQNRKLTFGI AILGDPQVLL LDEPTAGLDP 
       660        670        680        690        700
LSRHRIWNLL KEGKSDRVIL FSTQFIDEAD ILADRKVFIS NGKLKCAGSS 
       710        720        730        740        750
LFLKKKWGIG YHLSLHLNER CDPESITSLV KQHISDAKLT AQSEEKLVYI 
       760        770        780        790        800
LPLERTNKFP ELYRDLDRCS NQGIEDYGVS ITTLNEVFLK LEGKSTIDES 
       810        820        830        840        850
DIGIWGQLQT DGAKDIGSLV ELEQVLSSFH ETRKTISGVA LWRQQVCAIA 
       860        870        880        890        900
KVRFLKLKKE RKSLWTILLL FGISFIPQLL EHLFYESYQK SYPWELSPNT 
       910        920        930        940        950
YFLSPGQQPQ DPLTHLLVIN KTGSTIDNFL HSLRRQNIAI EVDAFGTRNG 
       960        970        980        990       1000
TDDPSYNGAI IVSGDEKDHR FSIACNTKRL NCFPVLLDVI SNGLLGIFNS 
      1010       1020       1030       1040       1050
SEHIQTDRST FFEEHMDYEY GYRSNTFFWI PMAASFTPYI AMSSIGDYKK 
      1060       1070       1080       1090       1100
KAHSQLRISG LYPSAYWFGQ ALVDVSLYFL ILLLMQIMDY IFSPEEIIFI 
      1110       1120       1130       1140       1150
IQNLLIQILC SIGYVSSLVF LTYVISFIFR NGRKNSGIWS FFFLIVVIFS 
      1160       1170       1180       1190       1200
IVATDLNEYG FLGLFFGTML IPPFTLIGSL FIFSEISPDS MDYLGASESE 
      1210       1220       1230       1240       1250
IVYLALLIPY LHFLIFLFIL RCLEMNCRKK LMRKDPVFRI SPRSNAIFPN 
      1260       1270       1280       1290       1300
PEEPEGEEED IQMERMRTVN AMAVRDFDET PVIIASCLRK EYAGKKKNCF 
      1310       1320       1330       1340       1350
SKRKKKIATR NVSFCVKKGE VIGLLGHNGA GKSTTIKMIT GDTKPTAGQV 
      1360       1370       1380       1390       1400
ILKGSGGGEP LGFLGYCPQE NALWPNLTVR QHLEVYAAVK GLRKGDAMIA 
      1410       1420       1430       1440       1450
ITRLVDALKL QDQLKAPVKT LSEGIKRKLC FVLSILGNPS VVLLDEPSTG 
      1460       1470       1480       1490       1500
MDPEGQQQMW QVIRATFRNT ERGALLTTHY MAEAEAVCDR VAIMVSGRLR 
      1510       1520       1530       1540       1550
CIGSIQHLKS KFGKDYLLEM KLKNLAQMEP LHAEILRLFP QAAQQERFSS 
      1560       1570       1580       1590       1600
LMVYKLPVED VRPLSQAFFK LEIVKQSFDL EEYSLSQSTL EQVFLELSKE 
      1610       1620 
QELGDLEEDF DPSVKWKLLL QEEP
Length:1,624
Mass (Da):184,362
Last modified:March 1, 2003 - 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:i0847DC95DCC680D1
GO
Isoform 2 (identifier: Q8IUA7-2) [UniParc]FASTAAdd to basket
Also known as: ABCA9delta+55

The sequence of this isoform differs from the canonical sequence as follows:
     267-1624: Missing.

Show »
Length:266
Mass (Da):30,812
Checksum:iD870EB4EBBB5F84B
GO
Isoform 3 (identifier: Q8IUA7-3) [UniParc]FASTAAdd to basket
Also known as: ABCA9delta+73

The sequence of this isoform differs from the canonical sequence as follows:
     1429-1429: L → VRAGLVVALQVP
     1430-1624: Missing.

Show »
Length:1,440
Mass (Da):163,101
Checksum:iBA4082AFCACBF405
GO
Isoform 4 (identifier: Q8IUA7-4) [UniParc]FASTAAdd to basket
Also known as: ABCA9delta-95

The sequence of this isoform differs from the canonical sequence as follows:
     1429-1429: L → AGDSGHL
     1430-1624: Missing.

Show »
Length:1,435
Mass (Da):162,535
Checksum:i1E072AD74AB04515
GO
Isoform 5 (identifier: Q8IUA7-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     268-1624: Missing.

Show »
Length:267
Mass (Da):30,998
Checksum:i109870EB4EBBB5F8
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
H0Y4U7H0Y4U7_HUMAN
ATP-binding cassette sub-family A m...
ABCA9
1,586Annotation 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>
K7EJJ0K7EJJ0_HUMAN
ATP-binding cassette sub-family A m...
ABCA9
89Annotation 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 AAH62472 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAC11021 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.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 conflicti1430C → R in AAK30024 (Ref. 1) 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_027594353R → H2 PublicationsCorresponds to variant dbSNP:rs1860447Ensembl.1
Natural variantiVAR_027595785N → S. Corresponds to variant dbSNP:rs17684521Ensembl.1
Natural variantiVAR_0275961306K → T1 PublicationCorresponds to variant dbSNP:rs2302294Ensembl.1
Natural variantiVAR_0275971356G → S. Corresponds to variant dbSNP:rs9916254Ensembl.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_020705267 – 1624Missing in isoform 2. CuratedAdd BLAST1358
Alternative sequenceiVSP_020706268 – 1624Missing in isoform 5. 1 PublicationAdd BLAST1357
Alternative sequenceiVSP_0207071429L → VRAGLVVALQVP in isoform 3. Curated1
Alternative sequenceiVSP_0207081429L → AGDSGHL in isoform 4. Curated1
Alternative sequenceiVSP_0207091430 – 1624Missing in isoform 3 and isoform 4. CuratedAdd BLAST195

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
AY028899 mRNA Translation: AAK30024.1
AF423307 mRNA Translation: AAN32751.1
AF423346 AF423345 Genomic DNA Translation: AAN32752.1
BC062472 mRNA Translation: AAH62472.1 Different initiation.
AK057068 mRNA Translation: BAB71359.1
AK074491 mRNA Translation: BAC11021.1 Different initiation.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS11681.1 [Q8IUA7-1]

NCBI Reference Sequences

More...RefSeqi		NP_525022.2, NM_080283.3 [Q8IUA7-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000340001; ENSP00000342216; ENSG00000154258 [Q8IUA7-1]
ENST00000495634; ENSP00000465601; ENSG00000154258 [Q8IUA7-5]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		10350

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:10350

UCSC genome browser

More...UCSCi		uc002jhu.4, human [Q8IUA7-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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%5Freferences%5Fsection">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
AY028899 mRNA Translation: AAK30024.1
AF423307 mRNA Translation: AAN32751.1
AF423346 AF423345 Genomic DNA Translation: AAN32752.1
BC062472 mRNA Translation: AAH62472.1 Different initiation.
AK057068 mRNA Translation: BAB71359.1
AK074491 mRNA Translation: BAC11021.1 Different initiation.
CCDSiCCDS11681.1 [Q8IUA7-1]
RefSeqiNP_525022.2, NM_080283.3 [Q8IUA7-1]

3D structure databases

SMRiQ8IUA7
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi115631, 4 interactors
IntActiQ8IUA7, 2 interactors
STRINGi9606.ENSP00000342216

Protein family/group databases

TCDBi3.A.1.211.16, the atp-binding cassette (abc) superfamily

PTM databases

GlyGeniQ8IUA7, 3 sites
iPTMnetiQ8IUA7
PhosphoSitePlusiQ8IUA7

Genetic variation databases

BioMutaiABCA9
DMDMi74762471

Proteomic databases

jPOSTiQ8IUA7
MassIVEiQ8IUA7
PaxDbiQ8IUA7
PeptideAtlasiQ8IUA7
PRIDEiQ8IUA7
ProteomicsDBi70529 [Q8IUA7-1]
70530 [Q8IUA7-2]
70531 [Q8IUA7-3]
70532 [Q8IUA7-4]
70533 [Q8IUA7-5]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		31822, 170 antibodies

The DNASU plasmid repository

More...DNASUi		10350

Genome annotation databases

EnsembliENST00000340001; ENSP00000342216; ENSG00000154258 [Q8IUA7-1]
ENST00000495634; ENSP00000465601; ENSG00000154258 [Q8IUA7-5]
GeneIDi10350
KEGGihsa:10350
UCSCiuc002jhu.4, human [Q8IUA7-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		10350
DisGeNETi10350

GeneCards: human genes, protein and diseases

More...GeneCardsi		ABCA9
HGNCiHGNC:39, ABCA9
HPAiENSG00000154258, Tissue enhanced (adipose)
MIMi612507, gene
neXtProtiNX_Q8IUA7
OpenTargetsiENSG00000154258
PharmGKBiPA24384
VEuPathDBiHostDB:ENSG00000154258.16

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0059, Eukaryota
GeneTreeiENSGT00940000162444
HOGENOMiCLU_054320_0_0_1
InParanoidiQ8IUA7
OMAiTGVNMKI
OrthoDBi131191at2759
PhylomeDBiQ8IUA7
TreeFamiTF105192

Enzyme and pathway databases

PathwayCommonsiQ8IUA7
ReactomeiR-HSA-1369062, ABC transporters in lipid homeostasis

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		10350, 2 hits in 872 CRISPR screens

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

More...ChiTaRSi		ABCA9, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ABCA9

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

More...GenomeRNAii		10350
PharosiQ8IUA7, Tdark

Protein Ontology

More...PROi		PR:Q8IUA7
RNActiQ8IUA7, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000154258, Expressed in sural nerve and 189 other tissues
ExpressionAtlasiQ8IUA7, baseline and differential
GenevisibleiQ8IUA7, HS

Family and domain databases

InterProiView protein in InterPro
IPR003593, AAA+_ATPase
IPR003439, ABC_transporter-like
IPR026082, ABCA
IPR030370, ABCA9
IPR027417, P-loop_NTPase
PANTHERiPTHR19229, PTHR19229, 1 hit
PTHR19229:SF120, PTHR19229:SF120, 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
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 nameiABCA9_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: Q8IUA7
Secondary accession number(s): Q6P655
, Q8N2S4, Q8WWZ5, Q96MD8
<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/Swiss-Prot: October 3, 2006
Last sequence update: March 1, 2003
Last modified: February 10, 2021
This is version 139 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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