Q9DC29

PR
Gene name
Abcb6
Protein name
ATP-binding cassette sub-family B member 6
Names
ABC-type heme transporter ABCB6
Species
Mus musculus (Mouse)
KEGG Pathway
mmu:74104
EC number
7.6.2.5: Linked to the hydrolysis of a nucleoside triphosphate
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

182-270 (Predicted disordered autoinhibitory region) PR

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for Q9DC29

Entry ID Method Resolution Chain Position Source
AF-Q9DC29-F1 Predicted AlphaFoldDB

49 variants for Q9DC29

Variant ID(s) Position Change Description Diseaes Association Provenance
rs3388480338 3 T>P No EVA
rs3388479512 25 P>L No EVA
rs3388481617 113 L>M No EVA
rs3413122884 113 L>RDG* No EVA
rs3388480841 117 A>G No EVA
rs3388478878 118 S>G No EVA
rs243450501 119 V>A No EVA
rs3388478897 135 S>I No EVA
rs3388479288 163 L>* No EVA
rs3388481672 175 W>* No EVA
rs3388480499 194 V>M No EVA
rs3388479637 200 F>L No EVA
rs51736521 227 G>R No EVA
rs3388478556 234 D>Y No EVA
rs212651980 236 R>Q No EVA
rs3388478917 241 D>V No EVA
rs3388479649 287 R>M No EVA
rs3388481641 291 N>K No EVA
rs50543979 295 A>S No EVA
rs3388481692 308 T>I No EVA
rs3388481610 363 G>S No EVA
rs3388479104 383 L>V No EVA
rs3388480791 463 V>G No EVA
rs3413013155 466 Y>F No EVA
rs50778184 474 D>E No EVA
rs3388479141 504 V>M No EVA
rs3388480559 534 G>D No EVA
rs3388481618 569 K>* No EVA
rs3388479095 571 E>D No EVA
rs13468017 573 E>Q No EVA
rs3388478379 591 E>* No EVA
rs3390211073 596 H>P No EVA
rs3390143771 597 F>I No EVA
rs230639220 601 D>E No EVA
rs3388478252 637 F>I No EVA
rs242030588 641 D>E No EVA
rs247565226 642 I>V No EVA
rs3388480535 667 G>R No EVA
rs3388479396 669 V>L No EVA
rs3388480827 672 D>N No EVA
rs3388480875 693 D>N No EVA
rs3388478437 697 E>G No EVA
rs3388479651 746 D>N No EVA
rs3388479287 759 T>I No EVA
rs3388481657 808 H>Y No EVA
rs3388479416 811 L>R No EVA
rs3388478777 813 S>P No EVA
rs3388480349 816 G>E No EVA
rs3388478376 840 D>G No EVA

No associated diseases with Q9DC29

11 regional properties for Q9DC29

Type Name Position InterPro Accession
domain Biotin/lipoyl attachment 745 - 819 IPR000089
binding_site Biotin-binding site 776 - 793 IPR001882
domain Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain 288 - 471 IPR005479
domain Biotin carboxylase-like, N-terminal domain 118 - 237 IPR005481
domain Biotin carboxylase, C-terminal 507 - 614 IPR005482
domain ATP-grasp fold 275 - 466 IPR011761
domain Acetyl-coenzyme A carboxyltransferase, N-terminal 1576 - 1914 IPR011762
domain Acetyl-coenzyme A carboxyltransferase, C-terminal 1918 - 2234 IPR011763
domain Biotin carboxylation domain 117 - 618 IPR011764
domain Acetyl-CoA carboxylase, central domain 819 - 1569 IPR013537
domain Acetyl-CoA carboxylase 1669 - 2222 IPR034733

Functions

Description
EC Number 7.6.2.5 Linked to the hydrolysis of a nucleoside triphosphate
Subcellular Localization
  • Cell membrane ; Multi-pass membrane protein
  • Mitochondrion outer membrane ; Multi-pass membrane protein
  • Endoplasmic reticulum membrane ; Multi-pass membrane protein
  • Golgi apparatus membrane ; Multi-pass membrane protein
  • Endosome membrane ; Multi-pass membrane protein
  • Lysosome membrane
  • Late endosome membrane
  • Early endosome membrane
  • Secreted, extracellular exosome
  • Mitochondrion
  • Endosome, multivesicular body membrane
  • Melanosome membrane
  • Present in the membrane of mature erythrocytes and in exosomes released from reticulocytes during the final steps of erythroid maturation
  • Traffics from endoplasmic reticulum to Golgi during its glycans's maturation, therefrom is first targeted to the plasma membrane, and is rapidly internalized through endocytosis to be distributed to the limiting membrane of multivesicular bodies and lysosomes
  • Localized on the limiting membrane of early melanosomes of pigment cells (By similarity)
  • Targeted to the endolysosomal compartment (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

21 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
early endosome membrane The lipid bilayer surrounding an early endosome.
endolysosome membrane The lipid bilayer surrounding an endolysosome. An endolysosome is a transient hybrid organelle formed by fusion of a late endosome with a lysosome.
endoplasmic reticulum The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
endoplasmic reticulum membrane The lipid bilayer surrounding the endoplasmic reticulum.
endosome A vacuole to which materials ingested by endocytosis are delivered.
extracellular exosome A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
Golgi apparatus A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
Golgi membrane The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
integral component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
integral component of mitochondrial outer membrane The component of the mitochondrial outer membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
late endosome membrane The lipid bilayer surrounding a late endosome.
lysosomal membrane The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm.
melanosome membrane The lipid bilayer surrounding a melanosome.
mitochondrial envelope The double lipid bilayer enclosing the mitochondrion and separating its contents from the cell cytoplasm; includes the intermembrane space.
mitochondrial outer membrane The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope.
mitochondrion A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
multivesicular body membrane The lipid bilayer surrounding a multivesicular body.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
vacuolar membrane The lipid bilayer surrounding the vacuole and separating its contents from the cytoplasm of the cell.

8 GO annotations of molecular function

Name Definition
ABC-type heme transporter activity Catalysis of the reaction: ATP + H2O + heme(in) = ADP + phosphate + heme(out).
ABC-type transporter activity Primary active transporter characterized by two nucleotide-binding domains and two transmembrane domains. Uses the energy generated from ATP hydrolysis to drive the transport of a substance across a membrane.
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
ATPase-coupled transmembrane transporter activity Primary active transporter of a solute across a membrane, via the reaction: ATP + H2O = ADP + phosphate, to directly drive the transport of a substance across a membrane. The transport protein may be transiently phosphorylated (P-type transporters), or not (ABC-type transporters and other families of transporters). Primary active transport occurs up the solute's concentration gradient and is driven by a primary energy source.
efflux transmembrane transporter activity Enables the transfer of a specific substance or related group of substances from the inside of the cell to the outside of the cell across a membrane.
heme binding Binding to a heme, a compound composed of iron complexed in a porphyrin (tetrapyrrole) ring.
tetrapyrrole binding Binding to a tetrapyrrole, a compound containing four pyrrole nuclei variously substituted and linked to each other through carbons at the alpha position.

12 GO annotations of biological process

Name Definition
brain development The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.).
cellular copper ion homeostasis Any process involved in the maintenance of an internal steady state of copper ions at the level of a cell.
cellular detoxification of cadmium ion Any process that reduces or removes the toxicity of cadmium cations in a cell. These include transport of cadmium cations away from sensitive areas and to compartments or complexes whose purpose is sequestration.
heme metabolic process The chemical reactions and pathways involving heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring.
heme transmembrane transport The process in which heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring, is transported from one side of a membrane to the other by means of some agent such as a transporter or pore.
heme transport The directed movement of heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
melanosome assembly The aggregation, arrangement and bonding together of a set of components to form a melanosome, a tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored.
porphyrin-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of any member of a large group of derivatives or analogs of porphyrin. Porphyrin consists of a ring of four pyrrole nuclei linked each to the next at their alpha positions through a methine group.
porphyrin-containing compound metabolic process The chemical reactions and pathways involving any member of a large group of derivatives or analogs of porphyrin. Porphyrins consists of a ring of four pyrrole nuclei linked each to the next at their alpha positions through a methine group.
skin development The process whose specific outcome is the progression of the skin over time, from its formation to the mature structure. The skin is the external membranous integument of an animal. In vertebrates the skin generally consists of two layers, an outer nonsensitive and nonvascular epidermis (cuticle or skarfskin) composed of cells which are constantly growing and multiplying in the deeper, and being thrown off in the superficial layers, as well as an inner vascular dermis (cutis, corium or true skin) composed mostly of connective tissue.
tetrapyrrole metabolic process The chemical reactions and pathways involving tetrapyrroles, natural pigments containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next.
transmembrane transport The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other.

10 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P40416 ATM1 Iron-sulfur clusters transporter ATM1, mitochondrial Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
Q9NP58 ABCB6 ATP-binding cassette sub-family B member 6 Homo sapiens (Human) PR
Q9QY30 Abcb11 Bile salt export pump Mus musculus (Mouse) PR
P21440 Abcb4 Phosphatidylcholine translocator ABCB4 Mus musculus (Mouse) PR
P06795 Abcb1b ATP-dependent translocase ABCB1 Mus musculus (Mouse) PR
P21447 Abcb1a ATP-dependent translocase ABCB1 Mus musculus (Mouse) PR
O70595 Abcb6 ATP-binding cassette sub-family B member 6 Rattus norvegicus (Rat) PR
Q9M0G9 ABCB24 ABC transporter B family member 24, mitochondrial Arabidopsis thaliana (Mouse-ear cress) PR
Q9FUT3 ABCB23 ABC transporter B family member 23, mitochondrial Arabidopsis thaliana (Mouse-ear cress) PR
Q9LVM1 ABCB25 ABC transporter B family member 25, mitochondrial Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MVTVGNYCET EGPAGPAWTQ NGLSPCFFFT LVPSTLLTLG VLALVLVLPR RRREVPAGPE
70 80 90 100 110 120
ELSWAAGPRV APYVLQLFLA TLQMALPLAG LAGRVGTARG VRLPGYLLLA SVLESLASVC
130 140 150 160 170 180
GLWLLVVERS QARQSLAMGV WMKFRHSLGL LLLWTVTFAA ENLALVSWNS PQWWWARADL
190 200 210 220 230 240
GQQVQFGLWV LRYVTSGGLF ILGLWAPGLR PQSYTLHVHE EDQDVGGNQG RSTDRRSTWR
250 260 270 280 290 300
DLGRKLRLLS SYLWPRGSPS LQLIVLICLG LMGLERALNV LVPIFYRDIV NLLTAKAPWS
310 320 330 340 350 360
SLAWTVTTYV FLKFLQGGGT GSTGFVSNLR TFLWIRVQQF TSRGVELRLF SHLHELSLRW
370 380 390 400 410 420
HLGRRTGEVL RIVDRGTSSV TGLLSYLVFS IIPTLADIII GIIYFSMFFN AWFGLIVFLC
430 440 450 460 470 480
MSLYLILTIV VTEWRAKFRR DMNTQENATR ARAVDSLLNF ETVKYYGAEG YEVDRYREAI
490 500 510 520 530 540
LKFQGLEWKS TASLVVLNQT QNLVIGLGLL AGSLLCAYFV SEQKLQVGDF VLFGTYITQL
550 560 570 580 590 600
YMPLNWFGTY YRMIQTNFID MENMFDLLKE ETEVKDVPGA GPLRFHKGRI EFENVHFSYA
610 620 630 640 650 660
DGQETLQDVS FTVMPGQTVA LVGPSGAGKS TILRLLFRFY DISSGCIRID GQDISQVTQI
670 680 690 700 710 720
SLRSHIGVVP QDTVLFNDTI ANNIRYGRVT AGDSEVEAAA QAAGIHDAIL SFPEGYETQV
730 740 750 760 770 780
GERGLKLSGG EKQRVAIART ILKAPDIILL DEATSALDTS NERAIQASLA KVCTNRTTIV
790 800 810 820 830 840
IAHRLSTVVN ADQILVIKDG CIIERGRHEA LLSRGGVYAE MWQLQQQGQE TVPEESKPQD
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