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UniProtKB - O75027 (ABCB7_HUMAN)

Entry version 191 (12 Aug 2020)
Sequence version 2 (01 Dec 2000)
Previous versions | rss
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Protein

ATP-binding cassette sub-family B member 7, 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

Could be involved in the transport of heme from the mitochondria to the cytosol. Plays a central role in the maturation of cytosolic iron-sulfur (Fe/S) cluster-containing proteins.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 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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processTransport
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		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:
ATP-binding cassette sub-family B member 7, mitochondrial
Alternative name(s):
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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000131269.15

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

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%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
Transmembranei186 – 206HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei260 – 280HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei291 – 311HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei383 – 403HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei410 – 430HelicalPROSITE-ProRule annotationAdd BLAST21

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)4 Publications
The disease is caused by mutations 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. 1 PublicationCorresponds to variant dbSNP:rs80356714EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		22

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		ABCB7

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

Polymorphism and mutation 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 – 752ATP-binding cassette sub-family B member 7, 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 228 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.

Interacts with C10orf88/PAAT (PubMed:25063848).

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		106540, 57 interactors

Protein interaction database and analysis system

More...IntActi		O75027, 13 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

<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. Heavy Metal importer (TC 3.A.1.210) subfamily. [View classification]Curated

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

KEGG Orthology (KO)

More...KOi		K05662

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_I_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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 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
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: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>
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>
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. 1 PublicationCorresponds 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, 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%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, 57 interactors
IntActiO75027, 13 interactors
MINTiO75027
STRINGi9606.ENSP00000253577

Protein family/group databases

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

PTM databases

iPTMnetiO75027
PhosphoSitePlusiO75027
SwissPalmiO75027

Polymorphism and mutation 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, 271 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
EuPathDBiHostDB:ENSG00000131269.15

GeneCards: human genes, protein and diseases

More...GeneCardsi		ABCB7
GeneReviewsiABCB7
HGNCiHGNC:48, ABCB7
HPAiENSG00000131269, Low tissue specificity
MalaCardsiABCB7
MIMi300135, gene
301310, phenotype
neXtProtiNX_O75027
OpenTargetsiENSG00000131269
Orphaneti2802, X-linked sideroblastic anemia and spinocerebellar ataxia
PharmGKBiPA24389

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0057, Eukaryota
GeneTreeiENSGT00940000156281
InParanoidiO75027
KOiK05662
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, 353 hits in 503 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 228 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_I_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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry 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: August 12, 2020
This is version 191 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 polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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. SIMILARITY comments
    Index of protein domains and families
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