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UniProtKB - Q9NP78 (ABCB9_HUMAN)

Protein

ATP-binding cassette sub-family B member 9

Gene

ABCB9

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

ATP-dependent low-affinity peptide transporter which translocates a broad spectrum of peptides from the cytosol to the lysosomal lumen. Displays a broad peptide length specificity from 6-mer up to at least 59-mer peptides with an optimum of 23-mers. Favors positively charged, aromatic or hydrophobic residues in the N- and C-terminal positions whereas negatively charged residues as well as asparagine and methionine are not favored.3 Publications

Caution

Has also been detected in the endoplasmic reticulum but appears to be a lysosomal protein in vivo.1 Publication

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=6.8 µM for peptide RRYQNSTCL1 Publication

    pH dependencei

    Optimum pH is 7.0.1 Publication

    Temperature dependencei

    Optimum temperature is 37 degrees Celsius.1 Publication

    Regions

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Function’ 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 bindingi539 – 546ATPPROSITE-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

    View the complete GO annotation on QuickGO ...

    GO - Biological processi

    View the 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 processPeptide transport, Protein transport, Transport
    LigandATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    BRENDA Comprehensive Enzyme Information System

    More...    BRENDAi    		3.6.3.43 2681

    Reactome - a knowledgebase of biological pathways and processes

    More...    Reactomei    		R-HSA-382556 ABC-family proteins mediated transport

    SABIO-RK: Biochemical Reaction Kinetics Database

    More...    SABIO-RKi    		Q9NP78

    Protein family/group databases

    Transport Classification Database

    More...    TCDBi    		3.A.1.209.2 the atp-binding cassette (abc) superfamily

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

    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
    Recommended name:
    ATP-binding cassette sub-family B member 9
    Alternative name(s):
    ATP-binding cassette transporter 9
    Short name:
    ABC transporter 9 protein
    Short name:
    hABCB9
    TAP-like protein
    Short name:
    TAPL
    <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:ABCB9
    Synonyms:KIAA1520
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
    • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

    Organism-specific databases

    Eukaryotic Pathogen Database Resources

    More...    EuPathDBi    		HostDB:ENSG00000150967.17

    Human Gene Nomenclature Database

    More...    HGNCi    		HGNC:50 ABCB9

    Online Mendelian Inheritance in Man (OMIM)

    More...    MIMi    		605453 gene

    neXtProt; the human protein knowledge platform

    More...    neXtProti    		NX_Q9NP78

    <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; 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>Transmembranei7 – 27HelicalPROSITE-ProRule annotationAdd BLAST21
    Transmembranei47 – 67HelicalPROSITE-ProRule annotationAdd BLAST21
    Transmembranei84 – 104HelicalPROSITE-ProRule annotationAdd BLAST21
    Transmembranei116 – 136HelicalPROSITE-ProRule annotationAdd BLAST21
    Transmembranei185 – 205HelicalPROSITE-ProRule annotationAdd BLAST21
    Transmembranei225 – 245HelicalPROSITE-ProRule annotationAdd BLAST21
    Transmembranei319 – 339HelicalPROSITE-ProRule annotationAdd BLAST21
    Transmembranei416 – 436HelicalPROSITE-ProRule annotationAdd BLAST21

    Keywords - Cellular componenti

    Lysosome, Membrane

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

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi136 – 137LL → AA: No effect on lysosomal localization. 1 Publication2

    Organism-specific databases

    DisGeNET

    More...    DisGeNETi    		23457

    Open Targets

    More...    OpenTargetsi    		ENSG00000150967

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...    PharmGKBi    		PA24391

    Chemistry databases

    ChEMBL database of bioactive drug-like small molecules

    More...    ChEMBLi    		CHEMBL1293189

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...    BioMutai    		ABCB9

    Domain mapping of disease mutations (DMDM)

    More...    DMDMi    		22095458

    <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_00000002521 – 766ATP-binding cassette sub-family B member 9Add BLAST766

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...    EPDi    		Q9NP78

    jPOST - Japan Proteome Standard Repository/Database

    More...    jPOSTi    		Q9NP78

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

    More...    PaxDbi    		Q9NP78

    PeptideAtlas

    More...    PeptideAtlasi    		Q9NP78

    PRoteomics IDEntifications database

    More...    PRIDEi    		Q9NP78

    ProteomicsDB human proteome resource

    More...    ProteomicsDBi    		81917
    81918 [Q9NP78-2]
    81919 [Q9NP78-3]
    81920 [Q9NP78-5]
    81921 [Q9NP78-6]

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...    iPTMneti    		Q9NP78

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

    More...    PhosphoSitePlusi    		Q9NP78

    <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

    Highly expressed in testis, and at moderate levels in brain, spinal cord, and thyroid. Not expressed in monocytes but strongly expressed during differentiation of monocytes to dendritic cells and macrophages.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

    Not induced by interferon-gamma.1 Publication

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...    Bgeei    		ENSG00000150967 Expressed in 204 organ(s), highest expression level in right hemisphere of cerebellum

    CleanEx database of gene expression profiles

    More...    CleanExi    		HS_ABCB9

    ExpressionAtlas, Differential and Baseline Expression

    More...    ExpressionAtlasi    		Q9NP78 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...    Genevisiblei    		Q9NP78 HS

    Organism-specific databases

    Human Protein Atlas

    More...    HPAi    		CAB033052
    HPA035113
    HPA035114

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

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

    Homodimer.1 Publication

    GO - Molecular functioni

    View the complete GO annotation on QuickGO ...

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...    BioGridi    		117021, 14 interactors

    STRING: functional protein association networks

    More...    STRINGi    		9606.ENSP00000280560

    <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

    Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

    More...    ProteinModelPortali    		Q9NP78

    Database of comparative protein structure models

    More...    ModBasei    		Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...    MobiDBi    		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>Domaini188 – 471ABC transmembrane type-1PROSITE-ProRule annotationAdd BLAST284
    Domaini504 – 740ABC transporterPROSITE-ProRule annotationAdd BLAST237

    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 biasi384 – 389Poly-Glu6

    <p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

    The N-terminal region comprising the first four transmembrane domains is required for lysosomal localization but not for homodimerization or peptide transport.3 Publications

    <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. ABCB family. MHC peptide exporter (TC 3.A.1.209) subfamily. [View classification]Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...    eggNOGi    		KOG0058 Eukaryota
    COG1132 LUCA

    Ensembl GeneTree

    More...    GeneTreei    		ENSGT00940000155431

    The HOVERGEN Database of Homologous Vertebrate Genes

    More...    HOVERGENi    		HBG008358

    InParanoid: Eukaryotic Ortholog Groups

    More...    InParanoidi    		Q9NP78

    KEGG Orthology (KO)

    More...    KOi    		K05656

    Database of Orthologous Groups

    More...    OrthoDBi    		684058at2759

    Database for complete collections of gene phylogenies

    More...    PhylomeDBi    		Q9NP78

    TreeFam database of animal gene trees

    More...    TreeFami    		TF105197

    Family and domain databases

    Gene3D Structural and Functional Annotation of Protein Families

    More...    Gene3Di    		1.20.1560.10, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...    InterProi    		View protein in InterPro
    IPR003593 AAA+_ATPase
    IPR011527 ABC1_TM_dom
    IPR036640 ABC1_TM_sf
    IPR003439 ABC_transporter-like
    IPR017871 ABC_transporter_CS
    IPR030254 ABCB9
    IPR027417 P-loop_NTPase
    IPR039421 Type_I_exporter

    The PANTHER Classification System

    More...    PANTHERi    		PTHR24221 PTHR24221, 1 hit
    PTHR24221:SF242 PTHR24221:SF242, 1 hit

    Pfam protein domain database

    More...    Pfami    		View protein in Pfam
    PF00664 ABC_membrane, 1 hit
    PF00005 ABC_tran, 1 hit

    Simple Modular Architecture Research Tool; a protein domain database

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

    Superfamily database of structural and functional annotation

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

    PROSITE; a protein domain and family database

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

    <p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (6+)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 6 <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 6 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 1 (identifier: Q9NP78-1) [UniParc]FASTAAdd to basket
    Also known as: 12A, c1-l

    This isoform has been chosen as the 'canonical' 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
    MRLWKAVVVT LAFMSVDICV TTAIYVFSHL DRSLLEDIRH FNIFDSVLDL 
            60         70         80         90        100
    WAACLYRSCL LLGATIGVAK NSALGPRRLR ASWLVITLVC LFVGIYAMVK 
           110        120        130        140        150
    LLLFSEVRRP IRDPWFWALF VWTYISLGAS FLLWWLLSTV RPGTQALEPG 
           160        170        180        190        200
    AATEAEGFPG SGRPPPEQAS GATLQKLLSY TKPDVAFLVA ASFFLIVAAL 
           210        220        230        240        250
    GETFLPYYTG RAIDGIVIQK SMDQFSTAVV IVCLLAIGSS FAAGIRGGIF 
           260        270        280        290        300
    TLIFARLNIR LRNCLFRSLV SQETSFFDEN RTGDLISRLT SDTTMVSDLV 
           310        320        330        340        350
    SQNINVFLRN TVKVTGVVVF MFSLSWQLSL VTFMGFPIIM MVSNIYGKYY 
           360        370        380        390        400
    KRLSKEVQNA LARASNTAEE TISAMKTVRS FANEEEEAEV YLRKLQQVYK 
           410        420        430        440        450
    LNRKEAAAYM YYVWGSGLTL LVVQVSILYY GGHLVISGQM TSGNLIAFII 
           460        470        480        490        500
    YEFVLGDCME SVGSVYSGLM QGVGAAEKVF EFIDRQPTMV HDGSLAPDHL 
           510        520        530        540        550
    EGRVDFENVT FTYRTRPHTQ VLQNVSFSLS PGKVTALVGP SGSGKSSCVN 
           560        570        580        590        600
    ILENFYPLEG GRVLLDGKPI SAYDHKYLHR VISLVSQEPV LFARSITDNI 
           610        620        630        640        650
    SYGLPTVPFE MVVEAAQKAN AHGFIMELQD GYSTETGEKG AQLSGGQKQR 
           660        670        680        690        700
    VAMARALVRN PPVLILDEAT SALDAESEYL IQQAIHGNLQ KHTVLIIAHR 
           710        720        730        740        750
    LSTVEHAHLI VVLDKGRVVQ QGTHQQLLAQ GGLYAKLVQR QMLGLQPAAD 
           760 
    FTAGHNEPVA NGSHKA
    Length:766
    Mass (Da):84,475
    Last modified:October 1, 2000 - 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:iC83FA62C929EC792
    GO
    Isoform 2 (identifier: Q9NP78-2) [UniParc]FASTAAdd to basket
    Also known as: c1-s

    The sequence of this isoform differs from the canonical sequence as follows:
         418-460: Missing.

    Show »
    Length:723
    Mass (Da):79,771
    Checksum:i8FEB1D7C16C59FBC
    GO
    Isoform 3 (identifier: Q9NP78-3) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         582-596: ISLVSQEPVLFARSI → VCARAWATLLRPFCI
         597-766: Missing.

    Note: No experimental confirmation available.
    Show »
    Length:596
    Mass (Da):66,238
    Checksum:i9A6E46B08EE34D37
    GO
    Isoform 4 (identifier: Q9NP78-5) [UniParc]FASTAAdd to basket
    Also known as: 12B

    The sequence of this isoform differs from the canonical sequence as follows:
         681-683: IQQ → CAG
         684-766: Missing.

    Show »
    Length:683
    Mass (Da):75,402
    Checksum:i840FD3B6FBD9E86B
    GO
    Isoform 5 (identifier: Q9NP78-6) [UniParc]FASTAAdd to basket
    Also known as: 12C

    The sequence of this isoform differs from the canonical sequence as follows:
         682-766: Missing.

    Show »
    Length:681
    Mass (Da):75,284
    Checksum:iED56FBD9E86BA3D8
    GO
    Isoform 6 (identifier: Q9NP78-7) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         461-523: Missing.

    Note: No experimental confirmation available.
    Show »
    Length:703
    Mass (Da):77,470
    Checksum:iEC9F3DAE5C28F419
    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 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    		Gene namesLengthAnnotation
    Q6P2Q0Q6P2Q0_HUMAN
    ABCB9 protein
    ABCB9
    		769Annotation 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>
    F5H5Q0F5H5Q0_HUMAN
    ATP-binding cassette sub-family B m...
    ABCB9
    		115Annotation 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>
    F5GX86F5GX86_HUMAN
    ATP-binding cassette sub-family B m...
    ABCB9
    		182Annotation 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>
    F5H5F9F5H5F9_HUMAN
    ATP-binding cassette sub-family B m...
    ABCB9
    		222Annotation 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>
    F5H7U2F5H7U2_HUMAN
    ATP-binding cassette sub-family B m...
    ABCB9
    		277Annotation 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>
    F5GYI2F5GYI2_HUMAN
    ATP-binding cassette sub-family B m...
    ABCB9
    		260Annotation 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>
    F5GXZ5F5GXZ5_HUMAN
    ATP-binding cassette sub-family B m...
    ABCB9
    		145Annotation 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>
    F5H0G0F5H0G0_HUMAN
    ATP-binding cassette sub-family B m...
    ABCB9
    		272Annotation 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>
    F5H5I5F5H5I5_HUMAN
    ATP-binding cassette sub-family B m...
    ABCB9
    		65Annotation 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>
    F5H4Y2F5H4Y2_HUMAN
    ATP-binding cassette sub-family B m...
    ABCB9
    		156Annotation 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>
    There is more potential isoformShow all

    <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 BAA96044 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
    The sequence BAD66830 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

    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_013701121V → M1 PublicationCorresponds to variant dbSNP:rs3803002Ensembl.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_000027418 – 460Missing in isoform 2. 1 PublicationAdd BLAST43
    Alternative sequenceiVSP_044884461 – 523Missing in isoform 6. CuratedAdd BLAST63
    Alternative sequenceiVSP_000029582 – 596ISLVS…FARSI → VCARAWATLLRPFCI in isoform 3. 1 PublicationAdd BLAST15
    Alternative sequenceiVSP_000030597 – 766Missing in isoform 3. 1 PublicationAdd BLAST170
    Alternative sequenceiVSP_041884681 – 683IQQ → CAG in isoform 4. 1 Publication3
    Alternative sequenceiVSP_041885682 – 766Missing in isoform 5. 1 PublicationAdd BLAST85
    Alternative sequenceiVSP_041886684 – 766Missing in isoform 4. 1 PublicationAdd BLAST83

    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
    		AB045381 mRNA Translation: BAA97989.2
    AF216494 mRNA Translation: AAF89993.1
    AB112582 mRNA Translation: BAC98409.1
    AB112583 mRNA Translation: BAC98410.1
    AB177852 mRNA Translation: BAD66830.1 Different initiation.
    AB040953 mRNA Translation: BAA96044.2 Different initiation.
    AK304295 mRNA Translation: BAG65152.1
    AC026362 Genomic DNA No translation available.
    AC027290 Genomic DNA No translation available.
    BC017348 mRNA Translation: AAH17348.1

    The Consensus CDS (CCDS) project

    More...    CCDSi    		CCDS58286.1 [Q9NP78-7]
    CCDS58287.1 [Q9NP78-6]
    CCDS58288.1 [Q9NP78-5]
    CCDS9241.1 [Q9NP78-1]

    NCBI Reference Sequences

    More...    RefSeqi    		NP_001229942.1, NM_001243013.1 [Q9NP78-7]
    NP_001229943.1, NM_001243014.1 [Q9NP78-6]
    NP_062570.1, NM_019624.3 [Q9NP78-2]
    NP_062571.1, NM_019625.3 [Q9NP78-1]
    NP_982269.2, NM_203444.3 [Q9NP78-5]
    XP_011536397.1, XM_011538095.2 [Q9NP78-1]
    XP_011536398.1, XM_011538096.2 [Q9NP78-1]
    XP_016874592.1, XM_017019103.1 [Q9NP78-1]

    UniGene gene-oriented nucleotide sequence clusters

    More...    UniGenei    		Hs.511951

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...    Ensembli    		ENST00000280560; ENSP00000280560; ENSG00000150967 [Q9NP78-1]
    ENST00000344275; ENSP00000456813; ENSG00000150967 [Q9NP78-6]
    ENST00000346530; ENSP00000280559; ENSG00000150967 [Q9NP78-2]
    ENST00000392439; ENSP00000376234; ENSG00000150967 [Q9NP78-1]
    ENST00000442833; ENSP00000456375; ENSG00000150967 [Q9NP78-5]
    ENST00000540285; ENSP00000441734; ENSG00000150967 [Q9NP78-7]
    ENST00000542678; ENSP00000440288; ENSG00000150967 [Q9NP78-1]

    Database of genes from NCBI RefSeq genomes

    More...    GeneIDi    		23457

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...    KEGGi    		hsa:23457

    UCSC genome browser

    More...    UCSCi    		uc001udm.5 human [Q9NP78-1]

    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
    		AB045381 mRNA Translation: BAA97989.2
    AF216494 mRNA Translation: AAF89993.1
    AB112582 mRNA Translation: BAC98409.1
    AB112583 mRNA Translation: BAC98410.1
    AB177852 mRNA Translation: BAD66830.1 Different initiation.
    AB040953 mRNA Translation: BAA96044.2 Different initiation.
    AK304295 mRNA Translation: BAG65152.1
    AC026362 Genomic DNA No translation available.
    AC027290 Genomic DNA No translation available.
    BC017348 mRNA Translation: AAH17348.1
    CCDSiCCDS58286.1 [Q9NP78-7]
    CCDS58287.1 [Q9NP78-6]
    CCDS58288.1 [Q9NP78-5]
    CCDS9241.1 [Q9NP78-1]
    RefSeqiNP_001229942.1, NM_001243013.1 [Q9NP78-7]
    NP_001229943.1, NM_001243014.1 [Q9NP78-6]
    NP_062570.1, NM_019624.3 [Q9NP78-2]
    NP_062571.1, NM_019625.3 [Q9NP78-1]
    NP_982269.2, NM_203444.3 [Q9NP78-5]
    XP_011536397.1, XM_011538095.2 [Q9NP78-1]
    XP_011536398.1, XM_011538096.2 [Q9NP78-1]
    XP_016874592.1, XM_017019103.1 [Q9NP78-1]
    UniGeneiHs.511951

    3D structure databases

    ProteinModelPortaliQ9NP78
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi117021, 14 interactors
    STRINGi9606.ENSP00000280560

    Chemistry databases

    ChEMBLiCHEMBL1293189

    Protein family/group databases

    TCDBi3.A.1.209.2 the atp-binding cassette (abc) superfamily

    PTM databases

    iPTMnetiQ9NP78
    PhosphoSitePlusiQ9NP78

    Polymorphism and mutation databases

    BioMutaiABCB9
    DMDMi22095458

    Proteomic databases

    EPDiQ9NP78
    jPOSTiQ9NP78
    PaxDbiQ9NP78
    PeptideAtlasiQ9NP78
    PRIDEiQ9NP78
    ProteomicsDBi81917
    81918 [Q9NP78-2]
    81919 [Q9NP78-3]
    81920 [Q9NP78-5]
    81921 [Q9NP78-6]

    Protocols and materials databases

    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000280560; ENSP00000280560; ENSG00000150967 [Q9NP78-1]
    ENST00000344275; ENSP00000456813; ENSG00000150967 [Q9NP78-6]
    ENST00000346530; ENSP00000280559; ENSG00000150967 [Q9NP78-2]
    ENST00000392439; ENSP00000376234; ENSG00000150967 [Q9NP78-1]
    ENST00000442833; ENSP00000456375; ENSG00000150967 [Q9NP78-5]
    ENST00000540285; ENSP00000441734; ENSG00000150967 [Q9NP78-7]
    ENST00000542678; ENSP00000440288; ENSG00000150967 [Q9NP78-1]
    GeneIDi23457
    KEGGihsa:23457
    UCSCiuc001udm.5 human [Q9NP78-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...    CTDi    		23457
    DisGeNETi23457
    EuPathDBiHostDB:ENSG00000150967.17

    GeneCards: human genes, protein and diseases

    More...    GeneCardsi    		ABCB9
    HGNCiHGNC:50 ABCB9
    HPAiCAB033052
    HPA035113
    HPA035114
    MIMi605453 gene
    neXtProtiNX_Q9NP78
    OpenTargetsiENSG00000150967
    PharmGKBiPA24391

    Human Unidentified Gene-Encoded large proteins database

    More...    HUGEi    		Search...

    GenAtlas: human gene database

    More...    GenAtlasi    		Search...

    Phylogenomic databases

    eggNOGiKOG0058 Eukaryota
    COG1132 LUCA
    GeneTreeiENSGT00940000155431
    HOVERGENiHBG008358
    InParanoidiQ9NP78
    KOiK05656
    OrthoDBi684058at2759
    PhylomeDBiQ9NP78
    TreeFamiTF105197

    Enzyme and pathway databases

    BRENDAi3.6.3.43 2681
    ReactomeiR-HSA-382556 ABC-family proteins mediated transport
    SABIO-RKiQ9NP78

    Miscellaneous databases

    The Gene Wiki collection of pages on human genes and proteins

    More...    GeneWikii    		ABCB9

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

    More...    GenomeRNAii    		23457

    Protein Ontology

    More...    PROi    		PR:Q9NP78

    The Stanford Online Universal Resource for Clones and ESTs

    More...    SOURCEi    		Search...

    Gene expression databases

    BgeeiENSG00000150967 Expressed in 204 organ(s), highest expression level in right hemisphere of cerebellum
    CleanExiHS_ABCB9
    ExpressionAtlasiQ9NP78 baseline and differential
    GenevisibleiQ9NP78 HS

    Family and domain databases

    Gene3Di1.20.1560.10, 1 hit
    InterProiView protein in InterPro
    IPR003593 AAA+_ATPase
    IPR011527 ABC1_TM_dom
    IPR036640 ABC1_TM_sf
    IPR003439 ABC_transporter-like
    IPR017871 ABC_transporter_CS
    IPR030254 ABCB9
    IPR027417 P-loop_NTPase
    IPR039421 Type_I_exporter
    PANTHERiPTHR24221 PTHR24221, 1 hit
    PTHR24221:SF242 PTHR24221:SF242, 1 hit
    PfamiView protein in Pfam
    PF00664 ABC_membrane, 1 hit
    PF00005 ABC_tran, 1 hit
    SMARTiView protein in SMART
    SM00382 AAA, 1 hit
    SUPFAMiSSF52540 SSF52540, 1 hit
    SSF90123 SSF90123, 1 hit
    PROSITEiView protein in PROSITE
    PS50929 ABC_TM1F, 1 hit
    PS00211 ABC_TRANSPORTER_1, 1 hit
    PS50893 ABC_TRANSPORTER_2, 1 hit

    ProtoNet; Automatic hierarchical classification of proteins

    More...    ProtoNeti    		Search...

    <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 nameiABCB9_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: Q9NP78
    Secondary accession number(s): B4E2J0
    , Q5W9G7, Q769F3, Q769F4, Q96AB1, Q9P208
    <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: August 2, 2002
    Last sequence update: October 1, 2000
    Last modified: January 16, 2019
    This is version 176 of the entry and version 1 of the sequence. See complete history.
    <p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. SIMILARITY comments
      Index of protein domains and families
    2. Human chromosome 12
      Human chromosome 12: entries, gene names and cross-references to MIM
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
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