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0ABCB6_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
NameABCB6
DescriptionAtp-binding cassette sub-family b member 6, mitochondrial precursor (mitochondrial abc transporter 3) (mt-abc transporter 3) (abc transporter umat).
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0043190 ATP-binding cassette (ABC) transporter complex (NAS)
0005739 mitochondrion (IDA)
0006879 iron ion homeostasis (NAS)

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schematic display of those terms with internal associations, click the node and browse the corresponding GO term
Domain Architecture (Details)
InterPro domains unassigned to SynO:
ATP-binding cassette (ABC) transporters are multidomain membrane proteins.esponsible for the controlled efflux and influx of substances (allocrites) across cellular membranes. They are minimally composed of four domains.ith two transmembrane domains (TMDs) responsible for allocrite binding and transport and two nucleotide-binding domains (NBDs) responsible for coupling the energy of ATP hydrolysis to conformational changes in the TMDs. Both NBDs are capable of ATP hydrolysis.nd inhibition of hydrolysis at one NBD effectively abrogates hydrolysis at the other. Hydrolysis at the two NBDs may occur in an alternative fashion although they appear substantially functionally symmetrical in terms of their binding to diverse nucleotides .A variety of ATP-binding transport proteins have a six transmembranehelical region. They are all integral membrane proteinsinvolved in a variety of transport systems. Members of this family include; thecystic fibrosis transmembrane conductance regulator (CFTR).acterial leukotoxinsecretion ATP-binding protein.ultidrug resistance proteins.he yeast leptomycin Bresistance protein.he mammalian sulphonylurea receptor and antigen peptidetransporter 2. Many of these proteins have two such regions.
  IPR001140:ABC transporter, transmembrane region
AAA ATPases form a large.unctionally diverse protein family belonging to the AAA+ superfamily of ring-shaped P-loop NTPases.hich exert their activity through the energy-dependent unfolding of macromolecules. AAA ATPases contain a P-loop NTPase domain.hich is the most abundant class of NTP-binding protein fold.nd is found throughout all kingdoms of life . P-loop NTPase domains act to hydrolyse the beta-gamma phosphate bond of bound nucleoside triphosphate. There are two classes of P-loop domains: the KG (kinase-GTPase) division.nd the ASCE division.he latter including the AAA+ group as well as several other ATPases.There are at least six major clades of AAA domains (metalloproteases.eiotic proteins.1 and D2 domains of ATPases with two AAA domains.roteasome subunits.nd BSC1).s well as several minor clades.ome of which consist of hypothetical proteins . The domain organisation of AAA ATPases consists of a non-ATPase N-terminal domain that acts in substrate recognition.ollowed by one or two AAA domains (D1 and D2).ne of which may be degenerate.
  IPR003593:AAA ATPase
ATP-binding cassette (ABC) transporters are multidomain membrane proteins.esponsible for the controlled efflux and influx of substances (allocrites) across cellular membranes. They are minimally composed of four domains.ith two transmembrane domains (TMDs) responsible for allocrite binding and transport and two nucleotide-binding domains (NBDs) responsible for coupling the energy of ATP hydrolysis to conformational changes in the TMDs. Both NBDs are capable of ATP hydrolysis.nd inhibition of hydrolysis at one NBD effectively abrogates hydrolysis at the other. Hydrolysis at the two NBDs may occur in an alternative fashion although they appear substantially functionally symmetrical in terms of their binding to diverse nucleotides .On the basis of sequence similarities a family of related ATP-binding proteins has been characterized . The proteins belonging to this family also contain one or two copies of the A consensus sequence or the P-loop (see ).
  IPR003439:ABC transporter related
IPR003439:ABC_tran 
Evalue:-61.1938209533691 
Location:616-800IPR001140:ABC_membrane 
Evalue:-18.1611499786377 
Location:265-544
SequencesProtein: ABCB6_HUMAN (842 aa)
mRNA: NM_005689
Local Annotation
Synapse Ontology
mitochondria are frequently observed in the vicinity of the synaptic vesicle clusters, in agreement with the ATP requirement of several steps of the vesicle cycle.
sdb:0118 mitochondria  (Evidence:keywords)
Calcium release from RyR (Ryanodine Receptor) in the SR (Sarcoplasmic Reticulum) is activated by the calcium induced-calcium-release
sdb:0325 RyR-CICR  (Evidence:keywords)
KO assignmentK05661
  Level 3 annotation:
    ATP-binding cassette, subfamily B (MDR/TAP), member 6
  Level 2 annotation:
    ABC transporters
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 92 residues, 219782737-219783012Exon2: 25 residues, 219783195-219783264Exon3: 33 residues, 219783346-219783441Exon4: 39 residues, 219783676-219783789Exon5: 60 residues, 219783899-219784074Exon6: 37 residues, 219785352-219785457Exon7: 21 residues, 219785973-219786031Exon8: 30 residues, 219786206-219786292Exon9: 23 residues, 219786404-219786468Exon10: 27 residues, 219786555-219786632Exon11: 44 residues, 219786791-219786917Exon12: 24 residues, 219787086-219787152Exon13: 38 residues, 219787354-219787464Exon14: 42 residues, 219787926-219788048Exon15: 63 residues, 219788962-219789146Exon16: 36 residues, 219789329-219789431Exon17: 62 residues, 219789617-219789798Exon18: 48 residues, 219790635-219790773Exon19: 277 residues, 219791090-219791916Exon20: 2 residues, -Jump to ABCB6_HUMAN  
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Loci Cluster (Details)Loci: 3213 219232701-219236409 ~-4K 22084(BCS1L)(+)Loci: 3214 219354948-219388259 ~-33K 22089(CYP27A1)(+)Loci: 3215 219532641-219535120 ~-2K 22095(CDK5R2)(+)Loci: 4494 219782737-219791916 ~-9K 22116(ABCB6)(-)Loci: 3216 219991342-219999703 ~-8K 22140(DES)(+)Loci: 3217 220087295-220111732 ~-24K 22148(ACCN4)(+)Loci: 3218 220145197-220148671 ~-3K 22154(INHA)(+)Loci: 4493 219210885-219232599 ~-22K 22082(ZNF142)(-)Link out to UCSC