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UniProtKB - Q2M3G0 (ABCB5_HUMAN)

Entry version 125 (08 May 2019)
Sequence version 4 (01 Oct 2014)
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Protein

ATP-binding cassette sub-family B member 5

Gene

ABCB5

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

Drug efflux transporter present in a number of stem cells that acts as a regulator of cellular differentiation. Able to mediate efflux from cells of the rhodamine dye and of the therapeutic drug doxorubicin. Specifically present in limbal stem cells, where it plays a key role in corneal development and repair.4 Publications

Miscellaneous

Acts as a marker of stem-like cells (CSC) in a number of malignancies (PubMed:24934811). Associated with clinical drug resistance, tumor progression and disease recurrence in malignant melanoma and acute leukemias. Responsible for the resistance to doxorubicin of a subset of malignant melanomas. ABCB5-expressing cells selectively survive when exposed to dacarbazine drug, the reference treatment of metastatic melanoma, vemurafenib and other various chemotherapeutic drugs, suggesting that anti-melanoma chemotherapy participates in the chemoresistance acquisition by selecting tumor cell subpopulations expressing ABCB5 (PubMed:22784549, PubMed:22044138, PubMed:22675422, PubMed:23770371, PubMed:24934811). Present in melanoma-initiating cells that acts as an enhancer of tumor growth by promoting CSC maintenance and tumor growth by controlling IL-1beta (IL1B) secretion to maintain slow-cycling, chemoresistant cells through an IL-1beta (IL1B)/IL8/CXCR1 cytokine signaling circuit (PubMed:24934811).5 Publications

Caution

Was named ABCB1 by some authors.Curated

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 bindingi421 – 428ATPPROSITE-ProRule annotation8
Nucleotide bindingi1050 – 1057ATPPROSITE-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 processDifferentiation, Transport
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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

Protein family/group databases

Transport Classification Database

More...TCDBi		3.A.1.201.13 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 5
Alternative name(s):
ABCB5 P-gp
P-glycoprotein ABCB5
<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:ABCB5
<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 7

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:46 ABCB5

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		611785 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q2M3G0

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

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei49 – 69HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei110 – 130HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei181 – 201HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei203 – 223HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei294 – 314HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei322 – 342HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei693 – 713HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei737 – 757HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei827 – 847HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei917 – 937HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei954 – 974HelicalPROSITE-ProRule annotationAdd BLAST21

Keywords - Cellular componenti

Cell membrane, Membrane

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

Organism-specific databases

DisGeNET

More...DisGeNETi		340273

Open Targets

More...OpenTargetsi		ENSG00000004846

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA24387

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL1772928

Drug and drug target database

More...DrugBanki		DB04851 Biricodar dicitrate

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ABCB5

Domain mapping of disease mutations (DMDM)

More...DMDMi		308153645

<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_00002535751 – 1257ATP-binding cassette sub-family B member 5Add BLAST1257

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi17N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi85N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi91N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi371N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi390N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi423N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi789N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi819N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi910N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1104N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1188N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q2M3G0

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q2M3G0

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

More...PaxDbi		Q2M3G0

PeptideAtlas

More...PeptideAtlasi		Q2M3G0

PRoteomics IDEntifications database

More...PRIDEi		Q2M3G0

ProteomicsDB human proteome resource

More...ProteomicsDBi		61374
61375 [Q2M3G0-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q2M3G0

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

More...PhosphoSitePlusi		Q2M3G0

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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed by CD133-expressing progenitor cells among epidermal melanocytes (at protein level). Widely expressed with specific expression in pigment cells. Highly expressed in several malignant tissues: highly expressed in clinical melanomas, with low expression in normal skin. In melanoma, marks malignant melanoma-initiating cells (MMIC), in which clinical virulence resides as a consequence of unlimited self-renewal capacity, resulting in inexorable tumor progression and metastasis. Also highly expressed in a number of leukemia cells. Expressed in basal limbal epithelium.8 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000004846 Expressed in 54 organ(s), highest expression level in cauda epididymis

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q2M3G0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q2M3G0 HS

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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		131028, 10 interactors

Protein interaction database and analysis system

More...IntActi		Q2M3G0, 1 interactor

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000384881

<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		Q2M3G0

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>Domaini49 – 350ABC transmembrane type-1 1PROSITE-ProRule annotationAdd BLAST302
Domaini386 – 622ABC transporter 1PROSITE-ProRule annotationAdd BLAST237
Domaini693 – 980ABC transmembrane type-1 2PROSITE-ProRule annotationAdd BLAST288
Domaini1015 – 1253ABC transporter 2PROSITE-ProRule annotationAdd BLAST239

<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. Multidrug resistance exporter (TC 3.A.1.201) subfamily. [View classification]Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0055 Eukaryota
COG1132 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000161340

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q2M3G0

KEGG Orthology (KO)

More...KOi		K05660

Identification of Orthologs from Complete Genome Data

More...OMAi		QCVIFMA

Database of Orthologous Groups

More...OrthoDBi		186078at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q2M3G0

TreeFam database of animal gene trees

More...TreeFami		TF105193

Family and domain databases

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, 2 hits
PF00005 ABC_tran, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00382 AAA, 2 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF52540 SSF52540, 2 hits
SSF90123 SSF90123, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50929 ABC_TM1F, 2 hits
PS00211 ABC_TRANSPORTER_1, 2 hits
PS50893 ABC_TRANSPORTER_2, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)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 4 <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 4 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 4 (identifier: Q2M3G0-4) [UniParc]FASTAAdd to basket

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
MENSERAEEM QENYQRNGTA EEQPKLRKEA VGSIEIFRFA DGLDITLMIL 
        60         70         80         90        100
GILASLVNGA CLPLMPLVLG EMSDNLISGC LVQTNTTNYQ NCTQSQEKLN 
       110        120        130        140        150
EDMTLLTLYY VGIGVAALIF GYIQISLWII TAARQTKRIR KQFFHSVLAQ 
       160        170        180        190        200
DIGWFDSCDI GELNTRMTDD IDKISDGIGD KIALLFQNMS TFSIGLAVGL 
       210        220        230        240        250
VKGWKLTLVT LSTSPLIMAS AAACSRMVIS LTSKELSAYS KAGAVAEEVL 
       260        270        280        290        300
SSIRTVIAFR AQEKELQRYT QNLKDAKDFG IKRTIASKVS LGAVYFFMNG 
       310        320        330        340        350
TYGLAFWYGT SLILNGEPGY TIGTVLAVFF SVIHSSYCIG AAVPHFETFA 
       360        370        380        390        400
IARGAAFHIF QVIDKKPSID NFSTAGYKPE SIEGTVEFKN VSFNYPSRPS 
       410        420        430        440        450
IKILKGLNLR IKSGETVALV GLNGSGKSTV VQLLQRLYDP DDGFIMVDEN 
       460        470        480        490        500
DIRALNVRHY RDHIGVVSQE PVLFGTTISN NIKYGRDDVT DEEMERAARE 
       510        520        530        540        550
ANAYDFIMEF PNKFNTLVGE KGAQMSGGQK QRIAIARALV RNPKILILDE 
       560        570        580        590        600
ATSALDSESK SAVQAALEKA SKGRTTIVVA HRLSTIRSAD LIVTLKDGML 
       610        620        630        640        650
AEKGAHAELM AKRGLYYSLV MSQDIKKADE QMESMTYSTE RKTNSLPLHS 
       660        670        680        690        700
VKSIKSDFID KAEESTQSKE ISLPEVSLLK ILKLNKPEWP FVVLGTLASV 
       710        720        730        740        750
LNGTVHPVFS IIFAKIITMF GNNDKTTLKH DAEIYSMIFV ILGVICFVSY 
       760        770        780        790        800
FMQGLFYGRA GEILTMRLRH LAFKAMLYQD IAWFDEKENS TGGLTTILAI 
       810        820        830        840        850
DIAQIQGATG SRIGVLTQNA TNMGLSVIIS FIYGWEMTFL ILSIAPVLAV 
       860        870        880        890        900
TGMIETAAMT GFANKDKQEL KHAGKIATEA LENIRTIVSL TREKAFEQMY 
       910        920        930        940        950
EEMLQTQHRN TSKKAQIIGS CYAFSHAFIY FAYAAGFRFG AYLIQAGRMT 
       960        970        980        990       1000
PEGMFIVFTA IAYGAMAIGE TLVLAPEYSK AKSGAAHLFA LLEKKPNIDS 
      1010       1020       1030       1040       1050
RSQEGKKPDT CEGNLEFREV SFFYPCRPDV FILRGLSLSI ERGKTVAFVG 
      1060       1070       1080       1090       1100
SSGCGKSTSV QLLQRLYDPV QGQVLFDGVD AKELNVQWLR SQIAIVPQEP 
      1110       1120       1130       1140       1150
VLFNCSIAEN IAYGDNSRVV PLDEIKEAAN AANIHSFIEG LPEKYNTQVG 
      1160       1170       1180       1190       1200
LKGAQLSGGQ KQRLAIARAL LQKPKILLLD EATSALDNDS EKVVQHALDK 
      1210       1220       1230       1240       1250
ARTGRTCLVV THRLSAIQNA DLIVVLHNGK IKEQGTHQEL LRNRDIYFKL 

VNAQSVQ
Length:1,257
Mass (Da):138,641
Last modified:October 1, 2014 - v4
<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:iA4521B83E0D234CF
GO
Isoform 2 (identifier: Q2M3G0-2) [UniParc]FASTAAdd to basket
Also known as: ABCB5alpha

The sequence of this isoform differs from the canonical sequence as follows:
     1-445: Missing.
     570-576: ASKGRTT → DTPRYSF
     577-1257: Missing.

Show »
Length:131
Mass (Da):14,691
Checksum:i4F8BD88320C5CABE
GO
Isoform 3 (identifier: Q2M3G0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-445: Missing.
     570-571: AS → KK
     572-1257: Missing.

Note: No experimental confirmation available.
Show »
Length:126
Mass (Da):14,081
Checksum:i37532E3C168CE6FA
GO
Isoform 1 (identifier: Q2M3G0-1) [UniParc]FASTAAdd to basket
Also known as: ABCB5beta

The sequence of this isoform differs from the canonical sequence as follows:
     1-445: Missing.

Show »
Length:812
Mass (Da):89,832
Checksum:i588E5F90AE305BE5
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C165H7C165_HUMAN
ATP-binding cassette sub-family B m...
ABCB5
314Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAN76500 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAQ03033 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti577I → M in AAN76500 (PubMed:12960149).Curated1
Sequence conflicti1141L → P in AAW31630 (PubMed:15760339).Curated1
Sequence conflicti1186L → I in ADV32637 (PubMed:21652540).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_028387560K → E1 PublicationCorresponds to variant dbSNP:rs2301641Ensembl.1
Natural variantiVAR_028388669K → R. Corresponds to variant dbSNP:rs13222448Ensembl.1
Natural variantiVAR_035731675E → V in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_062662880A → T in a pancreatic ductal adenocarcinoma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs1187237313Ensembl.1
Natural variantiVAR_033456905Q → H. Corresponds to variant dbSNP:rs35885925Ensembl.1
Natural variantiVAR_028389915A → T. Corresponds to variant dbSNP:rs17143304Ensembl.1
Natural variantiVAR_028390970E → K5 PublicationsCorresponds to variant dbSNP:rs6461515Ensembl.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_0567521 – 445Missing in isoform 1, isoform 2 and isoform 3. 4 PublicationsAdd BLAST445
Alternative sequenceiVSP_056753570 – 576ASKGRTT → DTPRYSF in isoform 2. 1 Publication7
Alternative sequenceiVSP_056754570 – 571AS → KK in isoform 3. 1 Publication2
Alternative sequenceiVSP_056755572 – 1257Missing in isoform 3. 1 PublicationAdd BLAST686
Alternative sequenceiVSP_056756577 – 1257Missing in isoform 2. 1 PublicationAdd BLAST681

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
AF319622 mRNA Translation: AAN76500.1 Different initiation.
AF399931 mRNA Translation: AAQ03033.1 Different initiation.
AY090613 mRNA Translation: AAM09027.1
AY234788 mRNA Translation: AAO73470.1
AY851364 mRNA Translation: AAW31629.1
AY851365 mRNA Translation: AAW31630.1
GU437216 mRNA Translation: ADV32636.1
GU437217 mRNA Translation: ADV32637.1
AB353947 mRNA Translation: BAF75364.1
AY230001 mRNA Translation: AAP55848.1
AC002486 Genomic DNA No translation available.
AC005060 Genomic DNA No translation available.
CH236948 Genomic DNA Translation: EAL24273.1
CH471073 Genomic DNA Translation: EAW93726.1
BC104894 mRNA Translation: AAI04895.2
BC104920 mRNA Translation: AAI04921.1
BC110370 mRNA No translation available.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS5371.1 [Q2M3G0-1]
CCDS55090.1 [Q2M3G0-4]
CCDS55091.1 [Q2M3G0-2]
CCDS55092.1 [Q2M3G0-3]

NCBI Reference Sequences

More...RefSeqi		NP_001157413.1, NM_001163941.1 [Q2M3G0-4]
NP_001157414.1, NM_001163942.1 [Q2M3G0-2]
NP_001157465.1, NM_001163993.2 [Q2M3G0-3]
NP_848654.3, NM_178559.5 [Q2M3G0-1]
XP_011513669.1, XM_011515367.2 [Q2M3G0-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000258738; ENSP00000258738; ENSG00000004846 [Q2M3G0-1]
ENST00000404938; ENSP00000384881; ENSG00000004846 [Q2M3G0-4]
ENST00000406935; ENSP00000383899; ENSG00000004846 [Q2M3G0-3]
ENST00000443026; ENSP00000406730; ENSG00000004846 [Q2M3G0-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		340273

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:340273

UCSC genome browser

More...UCSCi		uc003suv.4 human [Q2M3G0-4]

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

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF319622 mRNA Translation: AAN76500.1 Different initiation.
AF399931 mRNA Translation: AAQ03033.1 Different initiation.
AY090613 mRNA Translation: AAM09027.1
AY234788 mRNA Translation: AAO73470.1
AY851364 mRNA Translation: AAW31629.1
AY851365 mRNA Translation: AAW31630.1
GU437216 mRNA Translation: ADV32636.1
GU437217 mRNA Translation: ADV32637.1
AB353947 mRNA Translation: BAF75364.1
AY230001 mRNA Translation: AAP55848.1
AC002486 Genomic DNA No translation available.
AC005060 Genomic DNA No translation available.
CH236948 Genomic DNA Translation: EAL24273.1
CH471073 Genomic DNA Translation: EAW93726.1
BC104894 mRNA Translation: AAI04895.2
BC104920 mRNA Translation: AAI04921.1
BC110370 mRNA No translation available.
CCDSiCCDS5371.1 [Q2M3G0-1]
CCDS55090.1 [Q2M3G0-4]
CCDS55091.1 [Q2M3G0-2]
CCDS55092.1 [Q2M3G0-3]
RefSeqiNP_001157413.1, NM_001163941.1 [Q2M3G0-4]
NP_001157414.1, NM_001163942.1 [Q2M3G0-2]
NP_001157465.1, NM_001163993.2 [Q2M3G0-3]
NP_848654.3, NM_178559.5 [Q2M3G0-1]
XP_011513669.1, XM_011515367.2 [Q2M3G0-1]

3D structure databases

SMRiQ2M3G0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi131028, 10 interactors
IntActiQ2M3G0, 1 interactor
STRINGi9606.ENSP00000384881

Chemistry databases

ChEMBLiCHEMBL1772928
DrugBankiDB04851 Biricodar dicitrate

Protein family/group databases

TCDBi3.A.1.201.13 the atp-binding cassette (abc) superfamily

PTM databases

iPTMnetiQ2M3G0
PhosphoSitePlusiQ2M3G0

Polymorphism and mutation databases

BioMutaiABCB5
DMDMi308153645

Proteomic databases

EPDiQ2M3G0
jPOSTiQ2M3G0
PaxDbiQ2M3G0
PeptideAtlasiQ2M3G0
PRIDEiQ2M3G0
ProteomicsDBi61374
61375 [Q2M3G0-2]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		340273
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000258738; ENSP00000258738; ENSG00000004846 [Q2M3G0-1]
ENST00000404938; ENSP00000384881; ENSG00000004846 [Q2M3G0-4]
ENST00000406935; ENSP00000383899; ENSG00000004846 [Q2M3G0-3]
ENST00000443026; ENSP00000406730; ENSG00000004846 [Q2M3G0-2]
GeneIDi340273
KEGGihsa:340273
UCSCiuc003suv.4 human [Q2M3G0-4]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		340273
DisGeNETi340273

GeneCards: human genes, protein and diseases

More...GeneCardsi		ABCB5

H-Invitational Database, human transcriptome db

More...H-InvDBi		HIX0025281
HGNCiHGNC:46 ABCB5
MIMi611785 gene
neXtProtiNX_Q2M3G0
OpenTargetsiENSG00000004846
PharmGKBiPA24387

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0055 Eukaryota
COG1132 LUCA
GeneTreeiENSGT00940000161340
InParanoidiQ2M3G0
KOiK05660
OMAiQCVIFMA
OrthoDBi186078at2759
PhylomeDBiQ2M3G0
TreeFamiTF105193

Enzyme and pathway databases

ReactomeiR-HSA-382556 ABC-family proteins mediated transport

Miscellaneous databases

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

More...ChiTaRSi		ABCB5 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ABCB5

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

More...GenomeRNAii		340273

Protein Ontology

More...PROi		PR:Q2M3G0

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000004846 Expressed in 54 organ(s), highest expression level in cauda epididymis
ExpressionAtlasiQ2M3G0 baseline and differential
GenevisibleiQ2M3G0 HS

Family and domain databases

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, 2 hits
PF00005 ABC_tran, 2 hits
SMARTiView protein in SMART
SM00382 AAA, 2 hits
SUPFAMiSSF52540 SSF52540, 2 hits
SSF90123 SSF90123, 2 hits
PROSITEiView protein in PROSITE
PS50929 ABC_TM1F, 2 hits
PS00211 ABC_TRANSPORTER_1, 2 hits
PS50893 ABC_TRANSPORTER_2, 2 hits

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 nameiABCB5_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: Q2M3G0
Secondary accession number(s): A4D131
, A7BKA4, B5MD19, B7WPL1, F8QQP8, F8QQP9, J3KQ04, Q2M3I5, Q5I5Q7, Q5I5Q8, Q6KG50, Q6XFQ5, Q8IXA1
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: October 1, 2014
Last modified: May 8, 2019
This is version 125 of the entry and version 4 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. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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