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Entry version 196 (02 Jun 2021)
Sequence version 2 (01 Dec 2000)
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Protein

Iron-sulfur clusters transporter ABCB7, mitochondrial

Gene

ABCB7

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

Exports glutathione-coordinated iron-sulfur clusters such as [2Fe-2S]-(GS)4 cluster from the mitochondria to the cytosol in an ATP dependent manner allowing the assembly of the cytosolic iron-sulfur (Fe/S) cluster-containing proteins, in turns participates in iron homeostasis (PubMed:33157103, PubMed:17192393, PubMed:10196363).

Moreover through a functional complex formed of ABCB7, FECH and ABCB10, also plays a role in the cellular iron homeostasis, mitochondrial function and heme biosynthesis (PubMed:30765471).

In cardiomyocytes, regulates cellular iron homeostasis and cellular reactive oxygen species (ROS) levels through its interaction with COX4I1 (By similarity).

May also play a role in hematopoiesis (By similarity).

By similarity4 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 stimulated by glutathione.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=5.3 mM for Mg-ATP1 Publication
  2. KM=0.54 mM for Mg-ATP (in the presence of the [2Fe-2S](GS)4 cluster)1 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei428Glutathione; via amide nitrogenBy similarity1
    Binding sitei481ATPBy similarity1

    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 bindingi505 – 516ATPPROSITE-ProRule annotationAdd BLAST12

    <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

    Biological processTransport
    LigandATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    Pathway Commons web resource for biological pathway data

    More...
    PathwayCommonsi
    O75027

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-1369007, Mitochondrial ABC transporters
    R-HSA-2564830, Cytosolic iron-sulfur cluster assembly

    Protein family/group databases

    Transport Classification Database

    More...
    TCDBi
    3.A.1.210.4, 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:
    Iron-sulfur clusters transporter ABCB7, mitochondrialCurated
    Alternative name(s):
    ATP-binding cassette sub-family B member 7, mitochondrialCurated
    ATP-binding cassette transporter 7
    Short name:
    ABC transporter 7 protein
    <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:ABCB7Imported
    Synonyms:ABC7
    <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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
    • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

    Organism-specific databases

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:48, ABCB7

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    300135, gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_O75027

    Eukaryotic Pathogen, Vector and Host Database Resources

    More...
    VEuPathDBi
    HostDB:ENSG00000131269.15

    <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 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 domaini23 – 140Mitochondrial matrixBy similarityAdd BLAST118
    <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>Transmembranei141 – 161HelicalPROSITE-ProRule annotationAdd BLAST21
    Topological domaini162 – 185Mitochondrial intermembraneBy similarityAdd BLAST24
    Transmembranei186 – 206HelicalPROSITE-ProRule annotationAdd BLAST21
    Topological domaini207 – 259Mitochondrial matrixBy similarityAdd BLAST53
    Transmembranei260 – 280HelicalPROSITE-ProRule annotationAdd BLAST21
    Topological domaini281 – 290Mitochondrial intermembraneBy similarity10
    Transmembranei291 – 311HelicalPROSITE-ProRule annotationAdd BLAST21
    Topological domaini312 – 382Mitochondrial matrixBy similarityAdd BLAST71
    Transmembranei383 – 403HelicalPROSITE-ProRule annotationAdd BLAST21
    Topological domaini404 – 409Mitochondrial intermembraneBy similarity6
    Transmembranei410 – 430HelicalPROSITE-ProRule annotationAdd BLAST21
    Topological domaini431 – 752Mitochondrial matrixBy similarityAdd BLAST322

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner 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

    Anemia, sideroblastic, spinocerebellar ataxia (ASAT)5 Publications
    The disease is caused by variants affecting the gene represented in this entry.
    Disease descriptionAn X-linked recessive disorder characterized by an infantile to early childhood onset of non-progressive cerebellar ataxia and mild anemia, with hypochromia and microcytosis.
    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_067354208E → D in ASAT. 1 PublicationCorresponds to variant dbSNP:rs515726147EnsemblClinVar.1
    Natural variantiVAR_009156400I → M in ASAT. 1 PublicationCorresponds to variant dbSNP:rs72554634EnsemblClinVar.1
    Natural variantiVAR_022874411V → L in ASAT. 1 PublicationCorresponds to variant dbSNP:rs80356713EnsemblClinVar.1
    Natural variantiVAR_012640433E → K in ASAT; impaired maturation of cytosolic Fe/S proteins, loss of the ability to couple MgATP binding with stimulation of ATPase activity at the nucleotide binding domain;; loss of [2Fe-2S]-(GS)4 cluster transport. 2 PublicationsCorresponds to variant dbSNP:rs80356714EnsemblClinVar.1

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'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>Mutagenesisi433E → D: Significantly increases ATPase activity by [2Fe-2S]-(GS)4 cluster stimulation. Increases affinity for Mg-ATP. Does not affect affinity for Mg-ATP in the presence of the in the presence of [2Fe-2S]-(GS)4 cluster. Does not affect [2Fe-2S]-(GS)4 cluster transport. 1 Publication1
    Mutagenesisi433E → K: Loss of ATPase activity stimulation by [2Fe-2S]-(GS)4 cluster stimulation. Loss of the ability to couple MgATP binding with stimulation of ATPase activity at the nucleotide binding domain. Loss of [2Fe-2S]-(GS)4 cluster transport. 1 Publication1
    Mutagenesisi433E → Q: Loss of ATPase activity stimulation by [2Fe-2S]-(GS)4 cluster stimulation. Loss of the ability to couple MgATP binding with stimulation of ATPase activity at the nucleotide binding domain. Loss of [2Fe-2S]-(GS)4 cluster transport. 1 Publication1

    Keywords - Diseasei

    Disease variant

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    22

    MalaCards human disease database

    More...
    MalaCardsi
    ABCB7
    MIMi301310, phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000131269

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

    More...
    Orphaneti
    2802, X-linked sideroblastic anemia and spinocerebellar ataxia

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA24389

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...
    Pharosi
    O75027, Tbio

    Genetic variation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    ABCB7

    <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 transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 22MitochondrionSequence analysisAdd BLAST22
    <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_000000024923 – 752Iron-sulfur clusters transporter ABCB7, mitochondrialAdd BLAST730

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei216N6-acetyllysineCombined sources1
    Modified residuei251N6-acetyllysineCombined sources1
    Modified residuei336PhosphoserineBy similarity1
    Modified residuei340PhosphotyrosineBy similarity1
    Modified residuei342PhosphothreonineBy similarity1

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    O75027

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    O75027

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...
    MassIVEi
    O75027

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    O75027

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

    More...
    PaxDbi
    O75027

    PeptideAtlas

    More...
    PeptideAtlasi
    O75027

    PRoteomics IDEntifications database

    More...
    PRIDEi
    O75027

    ProteomicsDB: a multi-organism proteome resource

    More...
    ProteomicsDBi
    33710
    49702 [O75027-1]
    49703 [O75027-2]

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    O75027

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

    More...
    PhosphoSitePlusi
    O75027

    SwissPalm database of S-palmitoylation events

    More...
    SwissPalmi
    O75027

    <p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000131269, Expressed in liver and 229 other tissues

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    O75027, baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    O75027, HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    ENSG00000131269, Low tissue specificity

    <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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

    Homodimer or heterodimer (PubMed:30765471).

    Interacts with C10orf88/PAAT (PubMed:25063848).

    Forms a complex with ABCB10 and FECH, where a dimeric FECH bridges ABCB7 and ABCB10 homodimers; this complex may be required for cellular iron homeostasis, mitochondrial function and heme biosynthesis (PubMed:30765471).

    Interacts with FECH (PubMed:30765471).

    Interacts with ATP5F1A (By similarity).

    Interacts with COX4I1; this interaction allows the regulation of cellular iron homeostasis and cellular reactive oxygen species (ROS) levels in cardiomyocytes (By similarity).

    By similarity2 Publications

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGRID)

    More...
    BioGRIDi
    106540, 104 interactors

    Protein interaction database and analysis system

    More...
    IntActi
    O75027, 15 interactors

    Molecular INTeraction database

    More...
    MINTi
    O75027

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000253577

    Miscellaneous databases

    RNAct, Protein-RNA interaction predictions for model organisms.

    More...
    RNActi
    O75027, 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
    O75027

    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>Domaini140 – 436ABC transmembrane type-1PROSITE-ProRule annotationAdd BLAST297
    Domaini472 – 706ABC transporterPROSITE-ProRule annotationAdd BLAST235

    Region

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni315 – 319Glutathione bindingBy similarity5
    Regioni378 – 381Glutathione bindingBy similarity4

    <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

    Transit peptide, Transmembrane, Transmembrane helix

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG0057, Eukaryota

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00940000156281

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    O75027

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    VTEWRTH

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    O75027

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF105195

    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
    IPR027417, P-loop_NTPase
    IPR039421, Type_1_exporter

    The PANTHER Classification System

    More...
    PANTHERi
    PTHR24221, PTHR24221, 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%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 (3+)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.

    <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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

    This entry has 3 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 1 (identifier: O75027-1) [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
    MALLAMHSWR WAAAAAAFEK RRHSAILIRP LVSVSGSGPQ WRPHQLGALG
    60 70 80 90 100
    TARAYQIPES LKSITWQRLG KGNSGQFLDA AKALQVWPLI EKRTCWHGHA
    110 120 130 140 150
    GGGLHTDPKE GLKDVDTRKI IKAMLSYVWP KDRPDLRARV AISLGFLGGA
    160 170 180 190 200
    KAMNIVVPFM FKYAVDSLNQ MSGNMLNLSD APNTVATMAT AVLIGYGVSR
    210 220 230 240 250
    AGAAFFNEVR NAVFGKVAQN SIRRIAKNVF LHLHNLDLGF HLSRQTGALS
    260 270 280 290 300
    KAIDRGTRGI SFVLSALVFN LLPIMFEVML VSGVLYYKCG AQFALVTLGT
    310 320 330 340 350
    LGTYTAFTVA VTRWRTRFRI EMNKADNDAG NAAIDSLLNY ETVKYFNNER
    360 370 380 390 400
    YEAQRYDGFL KTYETASLKS TSTLAMLNFG QSAIFSVGLT AIMVLASQGI
    410 420 430 440 450
    VAGTLTVGDL VMVNGLLFQL SLPLNFLGTV YRETRQALID MNTLFTLLKV
    460 470 480 490 500
    DTQIKDKVMA SPLQITPQTA TVAFDNVHFE YIEGQKVLSG ISFEVPAGKK
    510 520 530 540 550
    VAIVGGSGSG KSTIVRLLFR FYEPQKGSIY LAGQNIQDVS LESLRRAVGV
    560 570 580 590 600
    VPQDAVLFHN TIYYNLLYGN ISASPEEVYA VAKLAGLHDA ILRMPHGYDT
    610 620 630 640 650
    QVGERGLKLS GGEKQRVAIA RAILKDPPVI LYDEATSSLD SITEETILGA
    660 670 680 690 700
    MKDVVKHRTS IFIAHRLSTV VDADEIIVLD QGKVAERGTH HGLLANPHSI
    710 720 730 740 750
    YSEMWHTQSS RVQNHDNPKW EAKKENISKE EERKKLQEEI VNSVKGCGNC

    SC
    Length:752
    Mass (Da):82,641
    Last modified:December 1, 2000 - v2
    <p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iB1FFA57ABD24FB90
    GO
    Isoform 2 (identifier: O75027-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         56-56: Q → QQ

    Show »
    Length:753
    Mass (Da):82,769
    Checksum:i9B96042C55C3C62F
    GO
    Isoform 3 (identifier: O75027-3) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         112-151: Missing.

    Show »
    Length:712
    Mass (Da):78,160
    Checksum:i17AA3D7FBE4F9531
    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 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    A0A5F9ZA98A0A5F9ZA98_HUMAN
    ATP-binding cassette sub-family B m...
    ABCB7
    757Annotation 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>
    A0A087WW65A0A087WW65_HUMAN
    ATP-binding cassette sub-family B m...
    ABCB7
    713Annotation 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>
    A0A590UJS8A0A590UJS8_HUMAN
    ATP-binding cassette sub-family B m...
    ABCB7
    693Annotation 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>
    B4DGL8B4DGL8_HUMAN
    ATP-binding cassette sub-family B m...
    ABCB7
    702Annotation 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>
    A0A2R8Y473A0A2R8Y473_HUMAN
    ATP-binding cassette sub-family B m...
    ABCB7
    651Annotation 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>
    E9PJR8E9PJR8_HUMAN
    ATP-binding cassette sub-family B m...
    ABCB7
    188Annotation 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>
    E9PNQ5E9PNQ5_HUMAN
    ATP-binding cassette sub-family B m...
    ABCB7
    159Annotation 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>
    A0A2R8YF35A0A2R8YF35_HUMAN
    ATP-binding cassette sub-family B m...
    ABCB7
    47Annotation 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>
    A0A2R8Y3N2A0A2R8Y3N2_HUMAN
    ATP-binding cassette sub-family B m...
    ABCB7
    159Annotation 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 conflicti141A → P in AAC39865 (PubMed:9653160).Curated1
    Sequence conflicti258R → K in BAA28861 (PubMed:9621516).Curated1
    Sequence conflicti271 – 276LLPIMF → PLPNHV in AAC39865 (PubMed:9653160).Curated6
    Sequence conflicti280L → LL in AAC39865 (PubMed:9653160).Curated1
    Sequence conflicti290G → C in AAC39865 (PubMed:9653160).Curated1
    Sequence conflicti293 – 297FALVT → LLGN in AAC39865 (PubMed:9653160).Curated5
    Sequence conflicti320 – 324IEMNK → LEIDQ in AAC39865 (PubMed:9653160).Curated5
    Sequence conflicti542E → V in AAD47141 (PubMed:9883897).Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_067354208E → D in ASAT. 1 PublicationCorresponds to variant dbSNP:rs515726147EnsemblClinVar.1
    Natural variantiVAR_022872315R → G2 Publications1
    Natural variantiVAR_022873346F → I2 Publications1
    Natural variantiVAR_009156400I → M in ASAT. 1 PublicationCorresponds to variant dbSNP:rs72554634EnsemblClinVar.1
    Natural variantiVAR_022874411V → L in ASAT. 1 PublicationCorresponds to variant dbSNP:rs80356713EnsemblClinVar.1
    Natural variantiVAR_012640433E → K in ASAT; impaired maturation of cytosolic Fe/S proteins, loss of the ability to couple MgATP binding with stimulation of ATPase activity at the nucleotide binding domain;; loss of [2Fe-2S]-(GS)4 cluster transport. 2 PublicationsCorresponds to variant dbSNP:rs80356714EnsemblClinVar.1
    Natural variantiVAR_055471580A → V. Corresponds to variant dbSNP:rs1340989EnsemblClinVar.1
    Natural variantiVAR_037972581V → A. Corresponds to variant dbSNP:rs1340989EnsemblClinVar.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_01463556Q → QQ in isoform 2. 2 Publications1
    Alternative sequenceiVSP_054700112 – 151Missing in isoform 3. CuratedAdd BLAST40

    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
    AB005289 mRNA Translation: BAA28861.1
    AF133659 mRNA Translation: AAD33045.1
    AF241887 AF241886 Genomic DNA Translation: AAK20173.1
    AF038950 mRNA Translation: AAC39865.1
    BT009918 mRNA Translation: AAP88920.1
    AL360179 Genomic DNA No translation available.
    AL359545 Genomic DNA No translation available.
    CH471104 Genomic DNA Translation: EAW98635.1
    BC006323 mRNA Translation: AAH06323.1
    AF078777 mRNA Translation: AAD47141.1

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS14428.1 [O75027-2]
    CCDS65290.1 [O75027-3]
    CCDS65291.1 [O75027-1]

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_001258625.1, NM_001271696.1 [O75027-1]
    NP_001258626.1, NM_001271697.1 [O75027-3]
    NP_004290.2, NM_004299.4 [O75027-2]

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000253577; ENSP00000253577; ENSG00000131269 [O75027-2]
    ENST00000339447; ENSP00000343849; ENSG00000131269 [O75027-3]
    ENST00000373394; ENSP00000362492; ENSG00000131269 [O75027-1]

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    22

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:22

    UCSC genome browser

    More...
    UCSCi
    uc004ebz.5, human [O75027-1]

    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
    AB005289 mRNA Translation: BAA28861.1
    AF133659 mRNA Translation: AAD33045.1
    AF241887 AF241886 Genomic DNA Translation: AAK20173.1
    AF038950 mRNA Translation: AAC39865.1
    BT009918 mRNA Translation: AAP88920.1
    AL360179 Genomic DNA No translation available.
    AL359545 Genomic DNA No translation available.
    CH471104 Genomic DNA Translation: EAW98635.1
    BC006323 mRNA Translation: AAH06323.1
    AF078777 mRNA Translation: AAD47141.1
    CCDSiCCDS14428.1 [O75027-2]
    CCDS65290.1 [O75027-3]
    CCDS65291.1 [O75027-1]
    RefSeqiNP_001258625.1, NM_001271696.1 [O75027-1]
    NP_001258626.1, NM_001271697.1 [O75027-3]
    NP_004290.2, NM_004299.4 [O75027-2]

    3D structure databases

    SMRiO75027
    ModBaseiSearch...

    Protein-protein interaction databases

    BioGRIDi106540, 104 interactors
    IntActiO75027, 15 interactors
    MINTiO75027
    STRINGi9606.ENSP00000253577

    Protein family/group databases

    TCDBi3.A.1.210.4, the atp-binding cassette (abc) superfamily

    PTM databases

    iPTMnetiO75027
    PhosphoSitePlusiO75027
    SwissPalmiO75027

    Genetic variation databases

    BioMutaiABCB7

    Proteomic databases

    EPDiO75027
    jPOSTiO75027
    MassIVEiO75027
    MaxQBiO75027
    PaxDbiO75027
    PeptideAtlasiO75027
    PRIDEiO75027
    ProteomicsDBi33710
    49702 [O75027-1]
    49703 [O75027-2]

    Protocols and materials databases

    Antibodypedia a portal for validated antibodies

    More...
    Antibodypediai
    28030, 291 antibodies

    The DNASU plasmid repository

    More...
    DNASUi
    22

    Genome annotation databases

    EnsembliENST00000253577; ENSP00000253577; ENSG00000131269 [O75027-2]
    ENST00000339447; ENSP00000343849; ENSG00000131269 [O75027-3]
    ENST00000373394; ENSP00000362492; ENSG00000131269 [O75027-1]
    GeneIDi22
    KEGGihsa:22
    UCSCiuc004ebz.5, human [O75027-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    22
    DisGeNETi22

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    ABCB7
    HGNCiHGNC:48, ABCB7
    HPAiENSG00000131269, Low tissue specificity
    MalaCardsiABCB7
    MIMi300135, gene
    301310, phenotype
    neXtProtiNX_O75027
    OpenTargetsiENSG00000131269
    Orphaneti2802, X-linked sideroblastic anemia and spinocerebellar ataxia
    PharmGKBiPA24389
    VEuPathDBiHostDB:ENSG00000131269.15

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG0057, Eukaryota
    GeneTreeiENSGT00940000156281
    InParanoidiO75027
    OMAiVTEWRTH
    PhylomeDBiO75027
    TreeFamiTF105195

    Enzyme and pathway databases

    PathwayCommonsiO75027
    ReactomeiR-HSA-1369007, Mitochondrial ABC transporters
    R-HSA-2564830, Cytosolic iron-sulfur cluster assembly

    Miscellaneous databases

    BioGRID ORCS database of CRISPR phenotype screens

    More...
    BioGRID-ORCSi
    22, 390 hits in 635 CRISPR screens

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

    More...
    ChiTaRSi
    ABCB7, human

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    ABCB7

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

    More...
    GenomeRNAii
    22
    PharosiO75027, Tbio

    Protein Ontology

    More...
    PROi
    PR:O75027
    RNActiO75027, protein

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000131269, Expressed in liver and 229 other tissues
    ExpressionAtlasiO75027, baseline and differential
    GenevisibleiO75027, 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
    IPR027417, P-loop_NTPase
    IPR039421, Type_1_exporter
    PANTHERiPTHR24221, PTHR24221, 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

    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 nameiABCB7_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: O75027
    Secondary accession number(s): G3XAC4
    , O75345, Q5VWY7, Q5VWY8, Q9BRE1, Q9UND1, Q9UP01
    <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: December 15, 1998
    Last sequence update: December 1, 2000
    Last modified: June 2, 2021
    This is version 196 of the entry and version 2 of the sequence. See complete history.
    <p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

    Keywords - Technical termi

    Reference proteome

    Documents

    1. Human chromosome X
      Human chromosome X: 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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