O89016

PR
Gene name
Abcd4
Protein name
Lysosomal cobalamin transporter ABCD4
Names
ATP-binding cassette sub-family D member 4, PMP70-related protein, P70R, Peroxisomal membrane protein 1-like, PXMP1-L, Peroxisomal membrane protein 69, PMP69
Species
Mus musculus (Mouse)
KEGG Pathway
mmu:19300
EC number
7.6.2.8: 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)

1-42 (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 O89016

Entry ID Method Resolution Chain Position Source
AF-O89016-F1 Predicted AlphaFoldDB

32 variants for O89016

Variant ID(s) Position Change Description Diseaes Association Provenance
rs3389180336 13 R>T No EVA
rs3389219355 35 W>* No EVA
rs3403531029 58 Y>* No EVA
rs3403641426 66 Q>* No EVA
rs3389246843 73 N>K No EVA
rs3389258182 134 V>M No EVA
rs864294363 143 D>G No EVA
rs3389251298 151 E>K No EVA
rs46962919 196 V>L No EVA
rs3389234678 221 D>G No EVA
rs3389180323 222 F>S No EVA
rs3389259659 235 P>H No EVA
rs3389222541 241 A>V No EVA
rs3389264171 299 G>R No EVA
rs3389243809 310 V>F No EVA
rs3389246873 312 K>N No EVA
rs3389245760 317 C>Y No EVA
rs3389259652 324 F>S No EVA
rs3389210310 333 T>A No EVA
rs3389219374 367 S>* No EVA
rs3389264188 368 E>* No EVA
rs3389245715 368 E>D No EVA
rs226810680 396 A>P No EVA
rs3402809951 416 S>T No EVA
rs3402170974 418 L>P No EVA
rs3402171067 419 I>L No EVA
rs221336760 440 G>S No EVA
rs3389249065 491 E>* No EVA
rs3389258246 494 V>M No EVA
rs3389234726 532 L>F No EVA
rs3389249463 555 T>I No EVA
rs3389246874 586 H>Q No EVA

No associated diseases with O89016

4 regional properties for O89016

Type Name Position InterPro Accession
domain ABC transporter-like, ATP-binding domain 474 - 729 IPR003439
domain AAA+ ATPase domain 499 - 703 IPR003593
domain ABC transporter type 1, transmembrane domain 78 - 352 IPR011527
conserved_site ABC transporter-like, conserved site 605 - 619 IPR017871

Functions

Description
EC Number 7.6.2.8 Linked to the hydrolysis of a nucleoside triphosphate
Subcellular Localization
  • Endoplasmic reticulum membrane ; Multi-pass membrane protein
  • Lysosome membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
endoplasmic reticulum membrane The lipid bilayer surrounding the endoplasmic reticulum.
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.
lysosomal membrane The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm.
peroxisomal membrane The lipid bilayer surrounding a peroxisome.

5 GO annotations of molecular function

Name Definition
ABC-type vitamin B12 transporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: vitamin B12(out) + ATP + H2O = ADP + an vitamin B12(in) + H+ + phosphate. Vitamin B12 is alkylcob(III)alamin.
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
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.
identical protein binding Binding to an identical protein or proteins.
long-chain fatty acid transporter activity Enables the transfer of long-chain fatty acids from one side of a membrane to the other. A long-chain fatty acid is a fatty acid with a chain length between C13 and C22.

7 GO annotations of biological process

Name Definition
cellular response to leukemia inhibitory factor Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a leukemia inhibitory factor stimulus.
cobalamin metabolic process The chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom.
cobalamin transport The directed movement of cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
fatty acid beta-oxidation A fatty acid oxidation process that results in the complete oxidation of a long-chain fatty acid. Fatty acid beta-oxidation begins with the addition of coenzyme A to a fatty acid, and occurs by successive cycles of reactions during each of which the fatty acid is shortened by a two-carbon fragment removed as acetyl coenzyme A; the cycle continues until only two or three carbons remain (as acetyl-CoA or propionyl-CoA respectively).
long-chain fatty acid import into peroxisome The directed movement of long-chain fatty acids into a peroxisome. A long-chain fatty acid is a fatty acid with a chain length between C13 and C22.
peroxisome organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a peroxisome. A peroxisome is a small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules.
very long-chain fatty acid catabolic process The chemical reactions and pathways resulting in the breakdown of a fatty acid which has a chain length greater than C22.

9 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P31826 yddA Inner membrane ABC transporter ATP-binding protein YddA Escherichia coli (strain K12) PR
P28288 ABCD3 ATP-binding cassette sub-family D member 3 Homo sapiens (Human) PR
O14678 ABCD4 Lysosomal cobalamin transporter ABCD4 Homo sapiens (Human) PR
P33897 ABCD1 ATP-binding cassette sub-family D member 1 Homo sapiens (Human) PR
Q9UBJ2 ABCD2 ATP-binding cassette sub-family D member 2 Homo sapiens (Human) PR
P55096 Abcd3 ATP-binding cassette sub-family D member 3 Mus musculus (Mouse) PR
P48410 Abcd1 ATP-binding cassette sub-family D member 1 Mus musculus (Mouse) PR
Q61285 Abcd2 ATP-binding cassette sub-family D member 2 Mus musculus (Mouse) PR
P16970 Abcd3 ATP-binding cassette sub-family D member 3 Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MAVPGPTARA GARPRLDLQL VQRFVRIQKV FFPSWSSQNV LMFMTLLCVT LLEQLVIYQV
70 80 90 100 110 120
GLIPSQYYGV LGNKDLDGFK ALTLLAVTLI VLNSTLKSFD QFTCNLLYVS WRKDLTEHLH
130 140 150 160 170 180
HLYFRARVYY TLNVLRDDID NPDQRISQDV ERFCRQLSSV TSKLIISPFT LTYYTYQCFQ
190 200 210 220 230 240
STGWLGPVSI FGYFIVGTMV NKTLMGPIVT KLVQQEKLEG DFRFKHMQIR VNAEPAAFYR
250 260 270 280 290 300
AGLVEHMRTD RRLQRLLQTQ RELMSRELWL YIGINTFDYL GSILSYVVIA IPIFSGVYGD
310 320 330 340 350 360
LSPTELSTLV SKNAFVCIYL ISCFTQLIDL STTLSDVAGY THRIGELQEA LLDMSRKSQD
370 380 390 400 410 420
CEALGESEWD LDKTPGCPTT EPSDTAFLLD RVSILAPSSD KPLIKDLSLK ICEGQSLLIT
430 440 450 460 470 480
GNTGTGKTSL LRVLGGLWEG MKGSVQMLAD FGPHGVLFLP QKPFFTDGTL REQVIYPLKE
490 500 510 520 530 540
IYPDSGSADD ERIVRFLELA GLSSLVARTG GLDQQVDWNW YDVLSPGEMQ RLSFARLFYL
550 560 570 580 590 600
QPKYAVLDEA TSALTEEAES ELYRIGQQLG MTFISVGHRP SLEKFHSWVL RLHGGGSWEL
TRIKLE