Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Multidrug resistance-associated protein 6

Gene

ABCC6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Isoform 1: May participate directly in the active transport of drugs into subcellular organelles or influence drug distribution indirectly. Transports glutathione conjugates as leukotriene-c4 (LTC4) and N-ethylmaleimide S-glutathione (NEM-GS).1 Publication
Isoform 2: Inhibits TNF-alpha-mediated apoptosis through blocking one or more caspases.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi663 – 670ATP 1PROSITE-ProRule annotation8
Nucleotide bindingi1299 – 1306ATP 2PROSITE-ProRule annotation8

GO - Molecular functioni

  • ATPase activity, coupled to transmembrane movement of substances Source: ProtInc
  • ATPase-coupled anion transmembrane transporter activity Source: Reactome
  • ATP binding Source: ProtInc
  • transporter activity Source: ProtInc

GO - Biological processi

  • response to drug Source: ProtInc
  • transmembrane transport Source: Reactome
  • transport Source: ProtInc
  • visual perception Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Sensory transduction, Transport, Vision

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000091262-MONOMER.
ReactomeiR-HSA-382556. ABC-family proteins mediated transport.

Protein family/group databases

TCDBi3.A.1.208.10. the atp-binding cassette (abc) superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
Multidrug resistance-associated protein 6
Alternative name(s):
ATP-binding cassette sub-family C member 6
Anthracycline resistance-associated protein
Multi-specific organic anion transporter E
Short name:
MOAT-E
Gene namesi
Name:ABCC6
Synonyms:ARA, MRP6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:57. ABCC6.

Subcellular locationi

Isoform 1 :
Isoform 2 :

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 31ExtracellularBy similarityAdd BLAST31
Transmembranei32 – 52Helical; Name=1PROSITE-ProRule annotationAdd BLAST21
Topological domaini53 – 72CytoplasmicBy similarityAdd BLAST20
Transmembranei73 – 93Helical; Name=2PROSITE-ProRule annotationAdd BLAST21
Topological domaini94 – 98ExtracellularBy similarity5
Transmembranei99 – 119Helical; Name=3PROSITE-ProRule annotationAdd BLAST21
Topological domaini120 – 131CytoplasmicBy similarityAdd BLAST12
Transmembranei132 – 149Helical; Name=4PROSITE-ProRule annotationAdd BLAST18
Topological domaini150 – 167ExtracellularBy similarityAdd BLAST18
Transmembranei168 – 188Helical; Name=5PROSITE-ProRule annotationAdd BLAST21
Topological domaini189 – 302CytoplasmicBy similarityAdd BLAST114
Transmembranei303 – 323Helical; Name=6PROSITE-ProRule annotationAdd BLAST21
Topological domaini324 – 349ExtracellularBy similarityAdd BLAST26
Transmembranei350 – 370Helical; Name=7PROSITE-ProRule annotationAdd BLAST21
Topological domaini371 – 426CytoplasmicBy similarityAdd BLAST56
Transmembranei427 – 447Helical; Name=8PROSITE-ProRule annotationAdd BLAST21
Topological domaini448 – 450ExtracellularBy similarity3
Transmembranei451 – 471Helical; Name=9PROSITE-ProRule annotationAdd BLAST21
Topological domaini472 – 533CytoplasmicBy similarityAdd BLAST62
Transmembranei534 – 554Helical; Name=10PROSITE-ProRule annotationAdd BLAST21
Topological domaini555 – 575ExtracellularBy similarityAdd BLAST21
Transmembranei576 – 596Helical; Name=11PROSITE-ProRule annotationAdd BLAST21
Topological domaini597 – 939CytoplasmicBy similarityAdd BLAST343
Transmembranei940 – 960Helical; Name=12PROSITE-ProRule annotationAdd BLAST21
Topological domaini961 – 997ExtracellularBy similarityAdd BLAST37
Transmembranei998 – 1018Helical; Name=13PROSITE-ProRule annotationAdd BLAST21
Topological domaini1019 – 1061CytoplasmicBy similarityAdd BLAST43
Transmembranei1062 – 1082Helical; Name=14PROSITE-ProRule annotationAdd BLAST21
Topological domaini1083ExtracellularBy similarity1
Transmembranei1084 – 1104Helical; Name=15PROSITE-ProRule annotationAdd BLAST21
Topological domaini1105 – 1175CytoplasmicBy similarityAdd BLAST71
Transmembranei1176 – 1196Helical; Name=16PROSITE-ProRule annotationAdd BLAST21
Topological domaini1197 – 1198ExtracellularBy similarity2
Transmembranei1199 – 1219Helical; Name=17PROSITE-ProRule annotationAdd BLAST21
Topological domaini1220 – 1503CytoplasmicBy similarityAdd BLAST284

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Pseudoxanthoma elasticum (PXE)14 Publications
The disease is caused by mutations affecting the gene represented in this entry. Homozygous or compound heterozygous ABCC6 mutations have been found in the overwhelming majority of cases. Individuals carrying heterozygous mutations express limited manifestations of the pseudoxanthoma elasticum phenotype.
Disease descriptionA multisystem disorder characterized by accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls, and Burch membrane in the eye. Clinically, patients exhibit characteristic lesions of the posterior segment of the eye including peau d'orange, angioid streaks, and choroidal neovascularizations, of the skin including soft, ivory colored papules in a reticular pattern that predominantly affect the neck and large flexor surfaces, and of the cardiovascular system with peripheral and coronary arterial occlusive disease as well as gastrointestinal bleedings.
See also OMIM:264800
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0728034P → H Found in patient with putative diagnosis of PXE; uncertain pathological significance; loss-of-function mutation; localization comparable to wild-type. 1 Publication1
Natural variantiVAR_0728049A → E Found in patient with putative diagnosis of PXE; uncertain pathological significance; loss-of-function mutation; localization comparable to wild-type. 1 Publication1
Natural variantiVAR_07280521P → S Found in patient with putative diagnosis of PXE; uncertain pathological significance; loss-of-function mutation; localization comparable to wild-type. 1 Publication1
Natural variantiVAR_01336360 – 62Missing in PXE; autosomal recessive. 3 Publications3
Natural variantiVAR_07280664R → Q Found in patient with putative diagnosis of PXE; uncertain pathological significance; localization comparable to wild-type. 1 PublicationCorresponds to variant rs777566074dbSNPEnsembl.1
Natural variantiVAR_06784074Missing in PXE. 1 Publication1
Natural variantiVAR_06784178A → T in PXE. 3 PublicationsCorresponds to variant rs551026377dbSNPEnsembl.1
Natural variantiVAR_07280790A → T Found in patient with putative diagnosis of PXE; uncertain pathological significance. 1 Publication1
Natural variantiVAR_067842125E → K in PXE; loss-of-function mutation; localization comparable to wild-type. 2 PublicationsCorresponds to variant rs3853814dbSNPEnsembl.1
Natural variantiVAR_067843129G → E in PXE; autosomal recessive. 1 PublicationCorresponds to variant rs72653753dbSNPEnsembl.1
Natural variantiVAR_067845317S → R in PXE; autosomal recessive. 2 PublicationsCorresponds to variant rs78678589dbSNPEnsembl.1
Natural variantiVAR_067846355L → R in GACI2 and PXE; autosomal recessive. 2 PublicationsCorresponds to variant rs72653758dbSNPEnsembl.1
Natural variantiVAR_067847363 – 373Missing in PXE. 1 PublicationAdd BLAST11
Natural variantiVAR_013370364T → R in PXE; autosomal recessive. 4 PublicationsCorresponds to variant rs72653759dbSNPEnsembl.1
Natural variantiVAR_067848370N → D in PXE; autosomal recessive. 1 PublicationCorresponds to variant rs72653760dbSNPEnsembl.1
Natural variantiVAR_067849382R → W in PXE. 1 PublicationCorresponds to variant rs72653761dbSNPEnsembl.1
Natural variantiVAR_067850391R → G in GACI2 and PXE; autosomal recessive. 4 PublicationsCorresponds to variant rs72653762dbSNPEnsembl.1
Natural variantiVAR_067851392K → N in PXE. 1 PublicationCorresponds to variant rs72653763dbSNPEnsembl.1
Natural variantiVAR_067852398S → G in PXE; autosomal recessive. 1 PublicationCorresponds to variant rs72653764dbSNPEnsembl.1
Natural variantiVAR_013371411N → K in PXE; autosomal dominant. 2 PublicationsCorresponds to variant rs9930886dbSNPEnsembl.1
Natural variantiVAR_072808419R → Q Found in patient with putative diagnosis of PXE; uncertain pathological significance; loss-of-function mutation; localization comparable to wild-type. 1 PublicationCorresponds to variant rs772434460dbSNPEnsembl.1
Natural variantiVAR_067854440C → G in PXE; autosomal recessive. 1 PublicationCorresponds to variant rs72653766dbSNPEnsembl.1
Natural variantiVAR_013372455A → P in PXE; autosomal dominant. 1 PublicationCorresponds to variant rs67996819dbSNPEnsembl.1
Natural variantiVAR_067855463L → H in PXE. Corresponds to variant rs72653767dbSNPEnsembl.1
Natural variantiVAR_067856495L → H in PXE; autosomal recessive. 2 PublicationsCorresponds to variant rs72653769dbSNPEnsembl.1
Natural variantiVAR_013374518R → Q in PXE; autosomal recessive. 6 PublicationsCorresponds to variant rs72653772dbSNPEnsembl.1
Natural variantiVAR_067858535S → P in PXE. 1 PublicationCorresponds to variant rs72653773dbSNPEnsembl.1
Natural variantiVAR_067859551F → S in PXE; autosomal recessive. 1 PublicationCorresponds to variant rs72653774dbSNPEnsembl.1
Natural variantiVAR_013375568F → S in PXE; autosomal dominant. 2 PublicationsCorresponds to variant rs66864704dbSNPEnsembl.1
Natural variantiVAR_067861594A → V in PXE; autosomal recessive. 1 PublicationCorresponds to variant rs72653776dbSNPEnsembl.1
Natural variantiVAR_067862600R → C in PXE; autosomal recessive. 2 PublicationsCorresponds to variant rs72653777dbSNPEnsembl.1
Natural variantiVAR_067863663G → C in PXE. 1 PublicationCorresponds to variant rs72653780dbSNPEnsembl.1
Natural variantiVAR_013377673L → P in PXE; autosomal dominant. 1 PublicationCorresponds to variant rs67470842dbSNPEnsembl.1
Natural variantiVAR_067864677L → P in PXE; autosomal recessive. 1 PublicationCorresponds to variant rs72653782dbSNPEnsembl.1
Natural variantiVAR_067865698Q → P in PXE. 1 PublicationCorresponds to variant rs72653783dbSNPEnsembl.1
Natural variantiVAR_067866699E → D in PXE. 1 PublicationCorresponds to variant rs72653784dbSNPEnsembl.1
Natural variantiVAR_067869726L → P in PXE. 2 PublicationsCorresponds to variant rs72653785dbSNPEnsembl.1
Natural variantiVAR_067871751M → K in PXE. 1 PublicationCorresponds to variant rs72653786dbSNPEnsembl.1
Natural variantiVAR_067872755G → R in PXE. 1 PublicationCorresponds to variant rs72653787dbSNPEnsembl.1
Natural variantiVAR_067873760R → W in PXE; autosomal recessive. 2 PublicationsCorresponds to variant rs72653788dbSNPEnsembl.1
Natural variantiVAR_013378765R → Q in PXE; autosomal dominant and autosomal recessive. 4 PublicationsCorresponds to variant rs67561842dbSNPEnsembl.1
Natural variantiVAR_067874766A → D in PXE; autosomal recessive. 1 PublicationCorresponds to variant rs72653789dbSNPEnsembl.1
Natural variantiVAR_067875777D → N in PXE. 1 PublicationCorresponds to variant rs72653790dbSNPEnsembl.1
Natural variantiVAR_067876807R → Q in PXE; autosomal recessive. 1 PublicationCorresponds to variant rs72653794dbSNPEnsembl.1
Natural variantiVAR_067877807R → W in PXE; autosomal recessive. 1 PublicationCorresponds to variant rs72653793dbSNPEnsembl.1
Natural variantiVAR_067878810V → M in PXE; autosomal recessive. 1 PublicationCorresponds to variant rs72653795dbSNPEnsembl.1
Natural variantiVAR_067879811T → M in PXE. 1 PublicationCorresponds to variant rs72653796dbSNPEnsembl.1
Natural variantiVAR_067880820A → P in PXE; autosomal recessive. 1 PublicationCorresponds to variant rs72653797dbSNPEnsembl.1
Natural variantiVAR_067881881R → S in PXE. 1 PublicationCorresponds to variant rs72653800dbSNPEnsembl.1
Natural variantiVAR_067882944T → I in PXE. 1 PublicationCorresponds to variant rs72653801dbSNPEnsembl.1
Natural variantiVAR_067884950A → T in PXE. 1 PublicationCorresponds to variant rs72657689dbSNPEnsembl.1
Natural variantiVAR_067885992G → R in PXE. 1 PublicationCorresponds to variant rs72657692dbSNPEnsembl.1
Natural variantiVAR_0678861036Missing in GACI2 and PXE; autosomal recessive. 2 Publications1
Natural variantiVAR_0678871048Missing in PXE; autosomal recessive. 1 Publication1
Natural variantiVAR_0678881056D → E in PXE. 1 PublicationCorresponds to variant rs72657694dbSNPEnsembl.1
Natural variantiVAR_0678901114R → C in GACI2 and PXE; autosomal recessive. 4 PublicationsCorresponds to variant rs63749794dbSNPEnsembl.1
Natural variantiVAR_0114911114R → P in PXE; autosomal recessive. 2 PublicationsCorresponds to variant rs63750427dbSNPEnsembl.1
Natural variantiVAR_0678911121S → L in PXE. 1 PublicationCorresponds to variant rs63750987dbSNPEnsembl.1
Natural variantiVAR_0133801121S → W in PXE; autosomal dominant. 1 PublicationCorresponds to variant rs63750987dbSNPEnsembl.1
Natural variantiVAR_0678921130T → M in PXE; autosomal recessive. 3 PublicationsCorresponds to variant rs63750459dbSNPEnsembl.1
Natural variantiVAR_0678931133G → A in PXE. 1 PublicationCorresponds to variant rs63750473dbSNPEnsembl.1
Natural variantiVAR_0133811138R → P in PXE; autosomal dominant. 1 PublicationCorresponds to variant rs60791294dbSNPEnsembl.1
Natural variantiVAR_0114921138R → Q in PXE; autosomal recessive. 6 PublicationsCorresponds to variant rs60791294dbSNPEnsembl.1
Natural variantiVAR_0114931138R → W in PXE; autosomal recessive. 3 PublicationsCorresponds to variant rs28939701dbSNPEnsembl.1
Natural variantiVAR_0678941139A → T in PXE. 1 PublicationCorresponds to variant rs63750146dbSNPEnsembl.1
Natural variantiVAR_0678951164R → Q in PXE; autosomal recessive. 2 PublicationsCorresponds to variant rs63750457dbSNPEnsembl.1
Natural variantiVAR_0133821203G → D in PXE; autosomal dominant. 1 PublicationCorresponds to variant rs63750607dbSNPEnsembl.1
Natural variantiVAR_0678961221R → C in PXE; autosomal recessive. 2 PublicationsCorresponds to variant rs63751215dbSNPEnsembl.1
Natural variantiVAR_0678981226L → I in PXE. 1 PublicationCorresponds to variant rs63750125dbSNPEnsembl.1
Natural variantiVAR_0678991235R → W in PXE; autosomal recessive. 1 PublicationCorresponds to variant rs63750402dbSNPEnsembl.1
Natural variantiVAR_0679001238D → H in PXE; pseudodominant. 1 PublicationCorresponds to variant rs63749796dbSNPEnsembl.1
Natural variantiVAR_0133841298V → F in PXE; autosomal dominant; abolishes LTC4 and NEM-GS transport. 3 PublicationsCorresponds to variant rs63751325dbSNPEnsembl.1
Natural variantiVAR_0133851301T → I in PXE; autosomal dominant. 1 PublicationCorresponds to variant rs63750494dbSNPEnsembl.1
Natural variantiVAR_0133861302G → R in PXE; autosomal dominant and autosomal recessive; abolishes LTC4 and NEM-GS transport. 5 PublicationsCorresponds to variant rs63749856dbSNPEnsembl.1
Natural variantiVAR_0133871303A → P in PXE; autosomal dominant and autosomal recessive. 3 PublicationsCorresponds to variant rs63750410dbSNPEnsembl.1
Natural variantiVAR_0133881314R → Q in PXE; autosomal dominant and autosomal recessive. 3 PublicationsCorresponds to variant rs63751086dbSNPEnsembl.1
Natural variantiVAR_0114951314R → W in GACI2 and PXE; autosomal recessive. 4 PublicationsCorresponds to variant rs63750759dbSNPEnsembl.1
Natural variantiVAR_0133891321G → S in PXE; autosomal dominant; abolishes LTC4 and NEM-GS transport. 2 PublicationsCorresponds to variant rs63749823dbSNPEnsembl.1
Natural variantiVAR_0679011335L → P in PXE; autosomal recessive. 2 PublicationsCorresponds to variant rs63750414dbSNPEnsembl.1
Natural variantiVAR_0679021335L → Q in PXE. 1 PublicationCorresponds to variant rs63750414dbSNPEnsembl.1
Natural variantiVAR_0133901339R → C in PXE; autosomal recessive. 6 PublicationsCorresponds to variant rs28939702dbSNPEnsembl.1
Natural variantiVAR_0679041339R → H in PXE; autosomal recessive. 1 PublicationCorresponds to variant rs63750622dbSNPEnsembl.1
Natural variantiVAR_0679031339R → L in PXE; autosomal recessive. 1 PublicationCorresponds to variant rs63750622dbSNPEnsembl.1
Natural variantiVAR_0679051346P → S in PXE; autosomal recessive. 1 PublicationCorresponds to variant rs63751112dbSNPEnsembl.1
Natural variantiVAR_0133911347Q → H in PXE; autosomal dominant. 1 PublicationCorresponds to variant rs67720869dbSNPEnsembl.1
Natural variantiVAR_0133921354G → R in PXE; autosomal recessive. 1 PublicationCorresponds to variant rs63750018dbSNPEnsembl.1
Natural variantiVAR_0679061357R → W in PXE; autosomal recessive. 1 PublicationCorresponds to variant rs63750428dbSNPEnsembl.1
Natural variantiVAR_0133931361D → N in PXE; autosomal dominant. 1 PublicationCorresponds to variant rs58695352dbSNPEnsembl.1
Natural variantiVAR_0679071400E → K in PXE; autosomal recessive. 2 PublicationsCorresponds to variant rs63751241dbSNPEnsembl.1
Natural variantiVAR_0679081406Q → K in PXE; autosomal recessive. 1 PublicationCorresponds to variant rs387906859dbSNPEnsembl.1
Natural variantiVAR_0133941424I → T in PXE; autosomal dominant. 1 PublicationCorresponds to variant rs63750295dbSNPEnsembl.1
Natural variantiVAR_0679091459R → C in PXE; putative autosomal dominant. 1 PublicationCorresponds to variant rs72547524dbSNPEnsembl.1
Arterial calcification of infancy, generalized, 2 (GACI2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. The disorder is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure.
See also OMIM:614473
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067846355L → R in GACI2 and PXE; autosomal recessive. 2 PublicationsCorresponds to variant rs72653758dbSNPEnsembl.1
Natural variantiVAR_067850391R → G in GACI2 and PXE; autosomal recessive. 4 PublicationsCorresponds to variant rs72653762dbSNPEnsembl.1
Natural variantiVAR_067860590S → F in GACI2. 1 PublicationCorresponds to variant rs537233133dbSNPEnsembl.1
Natural variantiVAR_0678861036Missing in GACI2 and PXE; autosomal recessive. 2 Publications1
Natural variantiVAR_0678901114R → C in GACI2 and PXE; autosomal recessive. 4 PublicationsCorresponds to variant rs63749794dbSNPEnsembl.1
Natural variantiVAR_0678971221R → H in GACI2. 2 PublicationsCorresponds to variant rs63751001dbSNPEnsembl.1
Natural variantiVAR_0114951314R → W in GACI2 and PXE; autosomal recessive. 4 PublicationsCorresponds to variant rs63750759dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi368.
MalaCardsiABCC6.
MIMi264800. phenotype.
614473. phenotype.
OpenTargetsiENSG00000091262.
ENSG00000275331.
Orphaneti51608. Generalized arterial calcification of infancy.
758. Pseudoxanthoma elasticum.
PharmGKBiPA58.

Chemistry databases

ChEMBLiCHEMBL2073661.
DrugBankiDB00515. Cisplatin.
DB00970. Dactinomycin.
DB00694. Daunorubicin.
DB00997. Doxorubicin.
DB00773. Etoposide.
DB00328. Indomethacin.
DB01032. Probenecid.
DB01138. Sulfinpyrazone.
DB00444. Teniposide.
DB00570. Vinblastine.

Polymorphism and mutation databases

BioMutaiABCC6.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000933661 – 1503Multidrug resistance-associated protein 6Add BLAST1503

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi15N-linked (GlcNAc...)1 Publication1
Modified residuei1286PhosphoserineCombined sources1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiO95255.
PaxDbiO95255.
PeptideAtlasiO95255.
PRIDEiO95255.

PTM databases

iPTMnetiO95255.
PhosphoSitePlusiO95255.

Expressioni

Tissue specificityi

Expressed in kidney and liver. Very low expression in other tissues.

Inductioni

Isoform 2 is induced by HBV x antigen upon hepatitis B viral infection.1 Publication

Gene expression databases

BgeeiENSG00000091262.
CleanExiHS_ABCC6.
ExpressionAtlasiO95255. baseline and differential.
GenevisibleiO95255. HS.

Organism-specific databases

HPAiHPA038105.

Interactioni

Protein-protein interaction databases

BioGridi106863. 5 interactors.
IntActiO95255. 5 interactors.
STRINGi9606.ENSP00000205557.

Structurei

3D structure databases

ProteinModelPortaliO95255.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini311 – 593ABC transmembrane type-1 1PROSITE-ProRule annotationAdd BLAST283
Domaini629 – 853ABC transporter 1PROSITE-ProRule annotationAdd BLAST225
Domaini947 – 1228ABC transmembrane type-1 2PROSITE-ProRule annotationAdd BLAST282
Domaini1265 – 1499ABC transporter 2PROSITE-ProRule annotationAdd BLAST235

Sequence similaritiesi

Contains 2 ABC transmembrane type-1 domains.PROSITE-ProRule annotation
Contains 2 ABC transporter domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0054. Eukaryota.
COG1132. LUCA.
GeneTreeiENSGT00860000133687.
HOVERGENiHBG108314.
InParanoidiO95255.
KOiK05669.
OMAiLWADDPT.
OrthoDBiEOG091G00IN.
PhylomeDBiO95255.
TreeFamiTF105199.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR003593. AAA+_ATPase.
IPR011527. ABC1_TM_dom.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR030239. ABCC6.
IPR005292. Multidrug-R_assoc.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR24223:SF226. PTHR24223:SF226. 2 hits.
PfamiPF00664. ABC_membrane. 2 hits.
PF00005. ABC_tran. 2 hits.
[Graphical view]
SMARTiSM00382. AAA. 2 hits.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
SSF90123. SSF90123. 2 hits.
TIGRFAMsiTIGR00957. MRP_assoc_pro. 1 hit.
PROSITEiPS50929. ABC_TM1F. 2 hits.
PS00211. ABC_TRANSPORTER_1. 2 hits.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O95255-1) [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
MAAPAEPCAG QGVWNQTEPE PAATSLLSLC FLRTAGVWVP PMYLWVLGPI
60 70 80 90 100
YLLFIHHHGR GYLRMSPLFK AKMVLGFALI VLCTSSVAVA LWKIQQGTPE
110 120 130 140 150
APEFLIHPTV WLTTMSFAVF LIHTERKKGV QSSGVLFGYW LLCFVLPATN
160 170 180 190 200
AAQQASGAGF QSDPVRHLST YLCLSLVVAQ FVLSCLADQP PFFPEDPQQS
210 220 230 240 250
NPCPETGAAF PSKATFWWVS GLVWRGYRRP LRPKDLWSLG RENSSEELVS
260 270 280 290 300
RLEKEWMRNR SAARRHNKAI AFKRKGGSGM KAPETEPFLR QEGSQWRPLL
310 320 330 340 350
KAIWQVFHST FLLGTLSLII SDVFRFTVPK LLSLFLEFIG DPKPPAWKGY
360 370 380 390 400
LLAVLMFLSA CLQTLFEQQN MYRLKVLQMR LRSAITGLVY RKVLALSSGS
410 420 430 440 450
RKASAVGDVV NLVSVDVQRL TESVLYLNGL WLPLVWIVVC FVYLWQLLGP
460 470 480 490 500
SALTAIAVFL SLLPLNFFIS KKRNHHQEEQ MRQKDSRARL TSSILRNSKT
510 520 530 540 550
IKFHGWEGAF LDRVLGIRGQ ELGALRTSGL LFSVSLVSFQ VSTFLVALVV
560 570 580 590 600
FAVHTLVAEN AMNAEKAFVT LTVLNILNKA QAFLPFSIHS LVQARVSFDR
610 620 630 640 650
LVTFLCLEEV DPGVVDSSSS GSAAGKDCIT IHSATFAWSQ ESPPCLHRIN
660 670 680 690 700
LTVPQGCLLA VVGPVGAGKS SLLSALLGEL SKVEGFVSIE GAVAYVPQEA
710 720 730 740 750
WVQNTSVVEN VCFGQELDPP WLERVLEACA LQPDVDSFPE GIHTSIGEQG
760 770 780 790 800
MNLSGGQKQR LSLARAVYRK AAVYLLDDPL AALDAHVGQH VFNQVIGPGG
810 820 830 840 850
LLQGTTRILV THALHILPQA DWIIVLANGA IAEMGSYQEL LQRKGALMCL
860 870 880 890 900
LDQARQPGDR GEGETEPGTS TKDPRGTSAG RRPELRRERS IKSVPEKDRT
910 920 930 940 950
TSEAQTEVPL DDPDRAGWPA GKDSIQYGRV KATVHLAYLR AVGTPLCLYA
960 970 980 990 1000
LFLFLCQQVA SFCRGYWLSL WADDPAVGGQ QTQAALRGGI FGLLGCLQAI
1010 1020 1030 1040 1050
GLFASMAAVL LGGARASRLL FQRLLWDVVR SPISFFERTP IGHLLNRFSK
1060 1070 1080 1090 1100
ETDTVDVDIP DKLRSLLMYA FGLLEVSLVV AVATPLATVA ILPLFLLYAG
1110 1120 1130 1140 1150
FQSLYVVSSC QLRRLESASY SSVCSHMAET FQGSTVVRAF RTQAPFVAQN
1160 1170 1180 1190 1200
NARVDESQRI SFPRLVADRW LAANVELLGN GLVFAAATCA VLSKAHLSAG
1210 1220 1230 1240 1250
LVGFSVSAAL QVTQTLQWVV RNWTDLENSI VSVERMQDYA WTPKEAPWRL
1260 1270 1280 1290 1300
PTCAAQPPWP QGGQIEFRDF GLRYRPELPL AVQGVSFKIH AGEKVGIVGR
1310 1320 1330 1340 1350
TGAGKSSLAS GLLRLQEAAE GGIWIDGVPI AHVGLHTLRS RISIIPQDPI
1360 1370 1380 1390 1400
LFPGSLRMNL DLLQEHSDEA IWAALETVQL KALVASLPGQ LQYKCADRGE
1410 1420 1430 1440 1450
DLSVGQKQLL CLARALLRKT QILILDEATA AVDPGTELQM QAMLGSWFAQ
1460 1470 1480 1490 1500
CTVLLIAHRL RSVMDCARVL VMDKGQVAES GSPAQLLAQK GLFYRLAQES

GLV
Length:1,503
Mass (Da):164,906
Last modified:November 24, 2009 - v2
Checksum:i2107BE13B1547B39
GO
Isoform 2 (identifier: O95255-2) [UniParc]FASTAAdd to basket
Also known as: URG7

The sequence of this isoform differs from the canonical sequence as follows:
     75-99: LGFALIVLCTSSVAVALWKIQQGTP → AAIPGSLEPGNVRGRQGTGWNLVKS
     100-1503: Missing.

Show »
Length:99
Mass (Da):10,786
Checksum:iB623C274D57FDB1D
GO
Isoform 3 (identifier: O95255-3) [UniParc]FASTAAdd to basket
Also known as: Delta19Delta24

The sequence of this isoform differs from the canonical sequence as follows:
     806-871: TRILVTHALH...EGETEPGTST → KQNLGPAPRT...QERTASNTAG
     872-1503: Missing.

Note: May function as a a half transporter.
Show »
Length:871
Mass (Da):95,877
Checksum:i66C9AFB3E01C254C
GO

Sequence cautioni

The sequence AAC15785 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti6E → Q in CAO81806 (PubMed:21318057).Curated1
Sequence conflicti377L → P in AAD51293 (PubMed:10424734).Curated1
Sequence conflicti401R → K in CAO81806 (PubMed:21318057).Curated1
Sequence conflicti986L → P in CAO81806 (PubMed:21318057).Curated1
Sequence conflicti1274Y → C in AAD51293 (PubMed:10424734).Curated1
Sequence conflicti1455L → P in AAD51293 (PubMed:10424734).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0728034P → H Found in patient with putative diagnosis of PXE; uncertain pathological significance; loss-of-function mutation; localization comparable to wild-type. 1 Publication1
Natural variantiVAR_0728049A → E Found in patient with putative diagnosis of PXE; uncertain pathological significance; loss-of-function mutation; localization comparable to wild-type. 1 Publication1
Natural variantiVAR_07280521P → S Found in patient with putative diagnosis of PXE; uncertain pathological significance; loss-of-function mutation; localization comparable to wild-type. 1 Publication1
Natural variantiVAR_01336360 – 62Missing in PXE; autosomal recessive. 3 Publications3
Natural variantiVAR_01336461G → D.1 PublicationCorresponds to variant rs72657696dbSNPEnsembl.1
Natural variantiVAR_07280664R → Q Found in patient with putative diagnosis of PXE; uncertain pathological significance; localization comparable to wild-type. 1 PublicationCorresponds to variant rs777566074dbSNPEnsembl.1
Natural variantiVAR_01336564R → W.3 PublicationsCorresponds to variant rs557180313dbSNPEnsembl.1
Natural variantiVAR_06784074Missing in PXE. 1 Publication1
Natural variantiVAR_06784178A → T in PXE. 3 PublicationsCorresponds to variant rs551026377dbSNPEnsembl.1
Natural variantiVAR_07280790A → T Found in patient with putative diagnosis of PXE; uncertain pathological significance. 1 Publication1
Natural variantiVAR_067842125E → K in PXE; loss-of-function mutation; localization comparable to wild-type. 2 PublicationsCorresponds to variant rs3853814dbSNPEnsembl.1
Natural variantiVAR_067843129G → E in PXE; autosomal recessive. 1 PublicationCorresponds to variant rs72653753dbSNPEnsembl.1
Natural variantiVAR_067844158A → V.1 PublicationCorresponds to variant rs2606921dbSNPEnsembl.1
Natural variantiVAR_013366207G → R.1 PublicationCorresponds to variant rs72657697dbSNPEnsembl.1
Natural variantiVAR_013367265R → G.4 PublicationsCorresponds to variant rs78629019dbSNPEnsembl.1
Natural variantiVAR_013368281K → E.2 PublicationsCorresponds to variant rs4780606dbSNPEnsembl.1
Natural variantiVAR_067845317S → R in PXE; autosomal recessive. 2 PublicationsCorresponds to variant rs78678589dbSNPEnsembl.1
Natural variantiVAR_013369319I → V.3 PublicationsCorresponds to variant rs72657699dbSNPEnsembl.1
Natural variantiVAR_067846355L → R in GACI2 and PXE; autosomal recessive. 2 PublicationsCorresponds to variant rs72653758dbSNPEnsembl.1
Natural variantiVAR_067847363 – 373Missing in PXE. 1 PublicationAdd BLAST11
Natural variantiVAR_013370364T → R in PXE; autosomal recessive. 4 PublicationsCorresponds to variant rs72653759dbSNPEnsembl.1
Natural variantiVAR_067848370N → D in PXE; autosomal recessive. 1 PublicationCorresponds to variant rs72653760dbSNPEnsembl.1
Natural variantiVAR_067849382R → W in PXE. 1 PublicationCorresponds to variant rs72653761dbSNPEnsembl.1
Natural variantiVAR_067850391R → G in GACI2 and PXE; autosomal recessive. 4 PublicationsCorresponds to variant rs72653762dbSNPEnsembl.1
Natural variantiVAR_067851392K → N in PXE. 1 PublicationCorresponds to variant rs72653763dbSNPEnsembl.1
Natural variantiVAR_067852398S → G in PXE; autosomal recessive. 1 PublicationCorresponds to variant rs72653764dbSNPEnsembl.1
Natural variantiVAR_013371411N → K in PXE; autosomal dominant. 2 PublicationsCorresponds to variant rs9930886dbSNPEnsembl.1
Natural variantiVAR_067853417V → M.1 PublicationCorresponds to variant rs768869262dbSNPEnsembl.1
Natural variantiVAR_072808419R → Q Found in patient with putative diagnosis of PXE; uncertain pathological significance; loss-of-function mutation; localization comparable to wild-type. 1 PublicationCorresponds to variant rs772434460dbSNPEnsembl.1
Natural variantiVAR_067854440C → G in PXE; autosomal recessive. 1 PublicationCorresponds to variant rs72653766dbSNPEnsembl.1
Natural variantiVAR_013372455A → P in PXE; autosomal dominant. 1 PublicationCorresponds to variant rs67996819dbSNPEnsembl.1
Natural variantiVAR_067855463L → H in PXE. Corresponds to variant rs72653767dbSNPEnsembl.1
Natural variantiVAR_067856495L → H in PXE; autosomal recessive. 2 PublicationsCorresponds to variant rs72653769dbSNPEnsembl.1
Natural variantiVAR_013373497N → K.1 PublicationCorresponds to variant rs72653770dbSNPEnsembl.1
Natural variantiVAR_067857514V → I.1 PublicationCorresponds to variant rs59157279dbSNPEnsembl.1
Natural variantiVAR_013374518R → Q in PXE; autosomal recessive. 6 PublicationsCorresponds to variant rs72653772dbSNPEnsembl.1
Natural variantiVAR_067858535S → P in PXE. 1 PublicationCorresponds to variant rs72653773dbSNPEnsembl.1
Natural variantiVAR_067859551F → S in PXE; autosomal recessive. 1 PublicationCorresponds to variant rs72653774dbSNPEnsembl.1
Natural variantiVAR_013375568F → S in PXE; autosomal dominant. 2 PublicationsCorresponds to variant rs66864704dbSNPEnsembl.1
Natural variantiVAR_067860590S → F in GACI2. 1 Publication