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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...

Keywordsi

Biological processSensory transduction, Transport, Vision
LigandATP-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

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. Corresponds to variant dbSNP:rs7775660741 PublicationEnsembl.1
Natural variantiVAR_06784074Missing in PXE. 1 Publication1
Natural variantiVAR_06784178A → T in PXE. Corresponds to variant dbSNP:rs5510263773 PublicationsEnsembl.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. Corresponds to variant dbSNP:rs38538142 PublicationsEnsembl.1
Natural variantiVAR_067843129G → E in PXE; autosomal recessive. Corresponds to variant dbSNP:rs726537531 PublicationEnsembl.1
Natural variantiVAR_067845317S → R in PXE; autosomal recessive. Corresponds to variant dbSNP:rs786785892 PublicationsEnsembl.1
Natural variantiVAR_067846355L → R in GACI2 and PXE; autosomal recessive. Corresponds to variant dbSNP:rs726537582 PublicationsEnsembl.1
Natural variantiVAR_067847363 – 373Missing in PXE. 1 PublicationAdd BLAST11
Natural variantiVAR_013370364T → R in PXE; autosomal recessive. Corresponds to variant dbSNP:rs726537594 PublicationsEnsembl.1
Natural variantiVAR_067848370N → D in PXE; autosomal recessive. Corresponds to variant dbSNP:rs726537601 PublicationEnsembl.1
Natural variantiVAR_067849382R → W in PXE. Corresponds to variant dbSNP:rs726537611 PublicationEnsembl.1
Natural variantiVAR_067850391R → G in GACI2 and PXE; autosomal recessive. Corresponds to variant dbSNP:rs726537624 PublicationsEnsembl.1
Natural variantiVAR_067851392K → N in PXE. Corresponds to variant dbSNP:rs726537631 PublicationEnsembl.1
Natural variantiVAR_067852398S → G in PXE; autosomal recessive. Corresponds to variant dbSNP:rs726537641 PublicationEnsembl.1
Natural variantiVAR_013371411N → K in PXE; autosomal dominant. Corresponds to variant dbSNP:rs99308862 PublicationsEnsembl.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. Corresponds to variant dbSNP:rs7724344601 PublicationEnsembl.1
Natural variantiVAR_067854440C → G in PXE; autosomal recessive. Corresponds to variant dbSNP:rs726537661 PublicationEnsembl.1
Natural variantiVAR_013372455A → P in PXE; autosomal dominant. Corresponds to variant dbSNP:rs679968191 PublicationEnsembl.1
Natural variantiVAR_067855463L → H in PXE. Corresponds to variant dbSNP:rs72653767Ensembl.1
Natural variantiVAR_067856495L → H in PXE; autosomal recessive. Corresponds to variant dbSNP:rs726537692 PublicationsEnsembl.1
Natural variantiVAR_013374518R → Q in PXE; autosomal recessive. Corresponds to variant dbSNP:rs726537726 PublicationsEnsembl.1
Natural variantiVAR_067858535S → P in PXE. Corresponds to variant dbSNP:rs726537731 PublicationEnsembl.1
Natural variantiVAR_067859551F → S in PXE; autosomal recessive. Corresponds to variant dbSNP:rs726537741 PublicationEnsembl.1
Natural variantiVAR_013375568F → S in PXE; autosomal dominant. Corresponds to variant dbSNP:rs668647042 PublicationsEnsembl.1
Natural variantiVAR_067861594A → V in PXE; autosomal recessive. Corresponds to variant dbSNP:rs726537761 PublicationEnsembl.1
Natural variantiVAR_067862600R → C in PXE; autosomal recessive. Corresponds to variant dbSNP:rs726537772 PublicationsEnsembl.1
Natural variantiVAR_067863663G → C in PXE. Corresponds to variant dbSNP:rs726537801 PublicationEnsembl.1
Natural variantiVAR_013377673L → P in PXE; autosomal dominant. Corresponds to variant dbSNP:rs674708421 PublicationEnsembl.1
Natural variantiVAR_067864677L → P in PXE; autosomal recessive. Corresponds to variant dbSNP:rs726537821 PublicationEnsembl.1
Natural variantiVAR_067865698Q → P in PXE. Corresponds to variant dbSNP:rs726537831 PublicationEnsembl.1
Natural variantiVAR_067866699E → D in PXE. Corresponds to variant dbSNP:rs726537841 PublicationEnsembl.1
Natural variantiVAR_067869726L → P in PXE. Corresponds to variant dbSNP:rs726537852 PublicationsEnsembl.1
Natural variantiVAR_067871751M → K in PXE. Corresponds to variant dbSNP:rs726537861 PublicationEnsembl.1
Natural variantiVAR_067872755G → R in PXE. Corresponds to variant dbSNP:rs726537871 PublicationEnsembl.1
Natural variantiVAR_067873760R → W in PXE; autosomal recessive. Corresponds to variant dbSNP:rs726537882 PublicationsEnsembl.1
Natural variantiVAR_013378765R → Q in PXE; autosomal dominant and autosomal recessive. Corresponds to variant dbSNP:rs675618424 PublicationsEnsembl.1
Natural variantiVAR_067874766A → D in PXE; autosomal recessive. Corresponds to variant dbSNP:rs726537891 PublicationEnsembl.1
Natural variantiVAR_067875777D → N in PXE. Corresponds to variant dbSNP:rs726537901 PublicationEnsembl.1
Natural variantiVAR_067876807R → Q in PXE; autosomal recessive. Corresponds to variant dbSNP:rs726537941 PublicationEnsembl.1
Natural variantiVAR_067877807R → W in PXE; autosomal recessive. Corresponds to variant dbSNP:rs726537931 PublicationEnsembl.1
Natural variantiVAR_067878810V → M in PXE; autosomal recessive. Corresponds to variant dbSNP:rs726537951 PublicationEnsembl.1
Natural variantiVAR_067879811T → M in PXE. Corresponds to variant dbSNP:rs726537961 PublicationEnsembl.1
Natural variantiVAR_067880820A → P in PXE; autosomal recessive. Corresponds to variant dbSNP:rs726537971 PublicationEnsembl.1
Natural variantiVAR_067881881R → S in PXE. Corresponds to variant dbSNP:rs726538001 PublicationEnsembl.1
Natural variantiVAR_067882944T → I in PXE. Corresponds to variant dbSNP:rs726538011 PublicationEnsembl.1
Natural variantiVAR_067884950A → T in PXE. Corresponds to variant dbSNP:rs726576891 PublicationEnsembl.1
Natural variantiVAR_067885992G → R in PXE. Corresponds to variant dbSNP:rs726576921 PublicationEnsembl.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. Corresponds to variant dbSNP:rs726576941 PublicationEnsembl.1
Natural variantiVAR_0678901114R → C in GACI2 and PXE; autosomal recessive. Corresponds to variant dbSNP:rs637497944 PublicationsEnsembl.1
Natural variantiVAR_0114911114R → P in PXE; autosomal recessive. Corresponds to variant dbSNP:rs637504272 PublicationsEnsembl.1
Natural variantiVAR_0678911121S → L in PXE. Corresponds to variant dbSNP:rs637509871 PublicationEnsembl.1
Natural variantiVAR_0133801121S → W in PXE; autosomal dominant. Corresponds to variant dbSNP:rs637509871 PublicationEnsembl.1
Natural variantiVAR_0678921130T → M in PXE; autosomal recessive. Corresponds to variant dbSNP:rs637504593 PublicationsEnsembl.1
Natural variantiVAR_0678931133G → A in PXE. Corresponds to variant dbSNP:rs637504731 PublicationEnsembl.1
Natural variantiVAR_0133811138R → P in PXE; autosomal dominant. Corresponds to variant dbSNP:rs607912941 PublicationEnsembl.1
Natural variantiVAR_0114921138R → Q in PXE; autosomal recessive. Corresponds to variant dbSNP:rs607912946 PublicationsEnsembl.1
Natural variantiVAR_0114931138R → W in PXE; autosomal recessive. Corresponds to variant dbSNP:rs289397013 PublicationsEnsembl.1
Natural variantiVAR_0678941139A → T in PXE. Corresponds to variant dbSNP:rs637501461 PublicationEnsembl.1
Natural variantiVAR_0678951164R → Q in PXE; autosomal recessive. Corresponds to variant dbSNP:rs637504572 PublicationsEnsembl.1
Natural variantiVAR_0133821203G → D in PXE; autosomal dominant. Corresponds to variant dbSNP:rs637506071 PublicationEnsembl.1
Natural variantiVAR_0678961221R → C in PXE; autosomal recessive. Corresponds to variant dbSNP:rs637512152 PublicationsEnsembl.1
Natural variantiVAR_0678981226L → I in PXE. Corresponds to variant dbSNP:rs637501251 PublicationEnsembl.1
Natural variantiVAR_0678991235R → W in PXE; autosomal recessive. Corresponds to variant dbSNP:rs637504021 PublicationEnsembl.1
Natural variantiVAR_0679001238D → H in PXE; pseudodominant. Corresponds to variant dbSNP:rs637497961 PublicationEnsembl.1
Natural variantiVAR_0133841298V → F in PXE; autosomal dominant; abolishes LTC4 and NEM-GS transport. Corresponds to variant dbSNP:rs637513253 PublicationsEnsembl.1
Natural variantiVAR_0133851301T → I in PXE; autosomal dominant. Corresponds to variant dbSNP:rs637504941 PublicationEnsembl.1
Natural variantiVAR_0133861302G → R in PXE; autosomal dominant and autosomal recessive; abolishes LTC4 and NEM-GS transport. Corresponds to variant dbSNP:rs637498565 PublicationsEnsembl.1
Natural variantiVAR_0133871303A → P in PXE; autosomal dominant and autosomal recessive. Corresponds to variant dbSNP:rs637504103 PublicationsEnsembl.1
Natural variantiVAR_0133881314R → Q in PXE; autosomal dominant and autosomal recessive. Corresponds to variant dbSNP:rs637510863 PublicationsEnsembl.1
Natural variantiVAR_0114951314R → W in GACI2 and PXE; autosomal recessive. Corresponds to variant dbSNP:rs637507594 PublicationsEnsembl.1
Natural variantiVAR_0133891321G → S in PXE; autosomal dominant; abolishes LTC4 and NEM-GS transport. Corresponds to variant dbSNP:rs637498232 PublicationsEnsembl.1
Natural variantiVAR_0679011335L → P in PXE; autosomal recessive. Corresponds to variant dbSNP:rs637504142 PublicationsEnsembl.1
Natural variantiVAR_0679021335L → Q in PXE. Corresponds to variant dbSNP:rs637504141 PublicationEnsembl.1
Natural variantiVAR_0133901339R → C in PXE; autosomal recessive. Corresponds to variant dbSNP:rs289397026 PublicationsEnsembl.1
Natural variantiVAR_0679041339R → H in PXE; autosomal recessive. Corresponds to variant dbSNP:rs637506221 PublicationEnsembl.1
Natural variantiVAR_0679031339R → L in PXE; autosomal recessive. Corresponds to variant dbSNP:rs637506221 PublicationEnsembl.1
Natural variantiVAR_0679051346P → S in PXE; autosomal recessive. Corresponds to variant dbSNP:rs637511121 PublicationEnsembl.1
Natural variantiVAR_0133911347Q → H in PXE; autosomal dominant. Corresponds to variant dbSNP:rs677208691 PublicationEnsembl.1
Natural variantiVAR_0133921354G → R in PXE; autosomal recessive. Corresponds to variant dbSNP:rs637500181 PublicationEnsembl.1
Natural variantiVAR_0679061357R → W in PXE; autosomal recessive. Corresponds to variant dbSNP:rs637504281 PublicationEnsembl.1
Natural variantiVAR_0133931361D → N in PXE; autosomal dominant. Corresponds to variant dbSNP:rs586953521 PublicationEnsembl.1
Natural variantiVAR_0679071400E → K in PXE; autosomal recessive. Corresponds to variant dbSNP:rs637512412 PublicationsEnsembl.1
Natural variantiVAR_0679081406Q → K in PXE; autosomal recessive. Corresponds to variant dbSNP:rs3879068591 PublicationEnsembl.1
Natural variantiVAR_0133941424I → T in PXE; autosomal dominant. Corresponds to variant dbSNP:rs637502951 PublicationEnsembl.1
Natural variantiVAR_0679091459R → C in PXE; putative autosomal dominant. Corresponds to variant dbSNP:rs725475241 PublicationEnsembl.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. Corresponds to variant dbSNP:rs726537582 PublicationsEnsembl.1
Natural variantiVAR_067850391R → G in GACI2 and PXE; autosomal recessive. Corresponds to variant dbSNP:rs726537624 PublicationsEnsembl.1
Natural variantiVAR_067860590S → F in GACI2. Corresponds to variant dbSNP:rs5372331331 PublicationEnsembl.1
Natural variantiVAR_0678861036Missing in GACI2 and PXE; autosomal recessive. 2 Publications1
Natural variantiVAR_0678901114R → C in GACI2 and PXE; autosomal recessive. Corresponds to variant dbSNP:rs637497944 PublicationsEnsembl.1
Natural variantiVAR_0678971221R → H in GACI2. Corresponds to variant dbSNP:rs637510012 PublicationsEnsembl.1
Natural variantiVAR_0114951314R → W in GACI2 and PXE; autosomal recessive. Corresponds to variant dbSNP:rs637507594 PublicationsEnsembl.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. Corresponds to variant dbSNP:rs726576961 PublicationEnsembl.1
Natural variantiVAR_07280664R → Q Found in patient with putative diagnosis of PXE; uncertain pathological significance; localization comparable to wild-type. Corresponds to variant dbSNP:rs7775660741 PublicationEnsembl.1
Natural variantiVAR_01336564R → W. Corresponds to variant dbSNP:rs5571803133 PublicationsEnsembl.1
Natural variantiVAR_06784074Missing in PXE. 1 Publication1
Natural variantiVAR_06784178A → T in PXE. Corresponds to variant dbSNP:rs5510263773 PublicationsEnsembl.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. Corresponds to variant dbSNP:rs38538142 PublicationsEnsembl.1
Natural variantiVAR_067843129G → E in PXE; autosomal recessive. Corresponds to variant dbSNP:rs726537531 PublicationEnsembl.1
Natural variantiVAR_067844158A → V. Corresponds to variant dbSNP:rs26069211 PublicationEnsembl.1
Natural variantiVAR_013366207G → R. Corresponds to variant dbSNP:rs726576971 PublicationEnsembl.1
Natural variantiVAR_013367265R → G. Corresponds to variant dbSNP:rs786290194 PublicationsEnsembl.1
Natural variantiVAR_013368281K → E. Corresponds to variant dbSNP:rs47806062 PublicationsEnsembl.1
Natural variantiVAR_067845317S → R in PXE; autosomal recessive. Corresponds to variant dbSNP:rs786785892 PublicationsEnsembl.1
Natural variantiVAR_013369319I → V. Corresponds to variant dbSNP:rs726576993 PublicationsEnsembl.1
Natural variantiVAR_067846355L → R in GACI2 and PXE; autosomal recessive. Corresponds to variant dbSNP:rs726537582 PublicationsEnsembl.1
Natural variantiVAR_067847363 – 373Missing in PXE. 1 PublicationAdd BLAST11
Natural variantiVAR_013370364T → R in PXE; autosomal recessive. Corresponds to variant dbSNP:rs726537594 PublicationsEnsembl.1
Natural variantiVAR_067848370N → D in PXE; autosomal recessive. Corresponds to variant dbSNP:rs726537601 PublicationEnsembl.1
Natural variantiVAR_067849382R → W in PXE. Corresponds to variant dbSNP:rs726537611 PublicationEnsembl.1
Natural variantiVAR_067850391R → G in GACI2 and PXE; autosomal recessive. Corresponds to variant dbSNP:rs726537624 PublicationsEnsembl.1
Natural variantiVAR_067851392K → N in PXE. Corresponds to variant dbSNP:rs726537631 PublicationEnsembl.1
Natural variantiVAR_067852398S → G in PXE; autosomal recessive. Corresponds to variant dbSNP:rs726537641 PublicationEnsembl.1
Natural variantiVAR_013371411N → K in PXE; autosomal dominant. Corresponds to variant dbSNP:rs99308862 PublicationsEnsembl.1
Natural variantiVAR_067853417V → M. Corresponds to variant dbSNP:rs7688692621 PublicationEnsembl.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. Corresponds to variant dbSNP:rs7724344601 PublicationEnsembl.1
Natural variantiVAR_067854440C → G in PXE; autosomal recessive. Corresponds to variant dbSNP:rs726537661 PublicationEnsembl.1
Natural variantiVAR_013372455A → P in PXE; autosomal dominant. Corresponds to variant dbSNP:rs679968191 PublicationEnsembl.1
Natural variantiVAR_067855463L → H in PXE. Corresponds to variant dbSNP:rs72653767Ensembl.1
Natural variantiVAR_067856495L → H in PXE; autosomal recessive. Corresponds to variant dbSNP:rs726537692 PublicationsEnsembl.1
Natural variantiVAR_013373497N → K. Corresponds to variant dbSNP:rs726537701 PublicationEnsembl.1
Natural variantiVAR_067857514V → I. Corresponds to variant dbSNP:rs591572791 PublicationEnsembl.1
Natural variantiVAR_013374518R → Q in PXE; autosomal recessive. Corresponds to variant dbSNP:rs726537726 PublicationsEnsembl.1
Natural variantiVAR_067858535S → P in PXE. Corresponds to variant dbSNP:rs726537731 PublicationEnsembl.1
Natural variantiVAR_067859551F → S in PXE; autosomal recessive. Corresponds to variant dbSNP:rs726537741 PublicationEnsembl.1
Natural variantiVAR_013375568F → S in PXE; autosomal dominant. Corresponds to variant dbSNP:rs668647042 PublicationsEnsembl.1
Natural variantiVAR_067860590S → F in GACI2. Corresponds to variant dbSNP:rs5372331331 PublicationEnsembl.1
Natural variantiVAR_067861594A → V in PXE; autosomal recessive. Corresponds to variant dbSNP:rs726537761 Publication