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The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This family member functions in the translocation of peptides from the cytosol into the lysosomal lumen. Alternative splicing of this gene results in distinct isoforms which are likely to have different substrate specificities. [provided by RefSeq, Jul 2011]
ABCB9 (ATP Binding Cassette Subfamily B Member 9) is a Protein Coding gene. Diseases associated with ABCB9 include Bile Acid Synthesis Defect, Congenital, 5 and Abcd Syndrome. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Lysosome. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is TAP2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0005515 | protein binding | IPI | 22641697 |
GO:0005524 | ATP binding | IEA,IDA | 15863492 |
GO:0015433 | peptide antigen-transporting ATPase activity | IBA | 21873635 |
GO:0015440 | peptide-transporting ATPase activity | IEA,IDA | 17977821 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005764 | lysosome | IEA,IDA | 22641697 |
GO:0005765 | lysosomal membrane | IEA,TAS | -- |
GO:0005769 | NOT early endosome | IDA | 17977821 |
GO:0005783 | NOT endoplasmic reticulum | IDA | 17977821 |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | CDK-mediated phosphorylation and removal of Cdc6 |
.31
|
|
2 | Lysosome |
-
|
|
3 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002474 | NOT antigen processing and presentation of peptide antigen via MHC class I | IDA | 17977821 |
GO:0015031 | protein transport | IEA | -- |
GO:0015833 | peptide transport | IEA,IDA | 17977821 |
GO:0019885 | antigen processing and presentation of endogenous peptide antigen via MHC class I | IBA | 21873635 |
GO:0055085 | transmembrane transport | IEA,TAS | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | · | 10c | ^ | 11 | ^ | 12a | · | 12b | · | 12c | ^ | 13 | ^ | 14a | · | 14b | · | 14c | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ABCB9 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | VPS37B 31 |
|
OneToOne | |
ABCB9 30 |
|
||||
Cow (Bos Taurus) |
Mammalia | ABCB9 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Abcb9 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Abcb9 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ABCB9 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ABCB9 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ABCB9 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ABCB9 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | abcb9 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | abcb9 30 31 |
|
OneToOne | |
Dr.19520 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.11832 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG10226 32 |
|
|
|
Worm (Caenorhabditis elegans) |
Secernentea | haf-4 30 31 |
|
ManyToMany | |
haf-2 31 |
|
ManyToMany | |||
haf-9 31 |
|
ManyToMany | |||
haf-8 31 |
|
ManyToMany | |||
haf-7 31 |
|
ManyToMany | |||
haf-3 31 |
|
ManyToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MDL1 31 |
|
ManyToMany | |
MDL2 31 |
|
ManyToMany | |||
Rice (Oryza sativa) |
Liliopsida | Os.11762 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
CSA.2338 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs3803002 | - |
p.Val121Met |
Disorder | Aliases | PubMed IDs |
---|---|---|
bile acid synthesis defect, congenital, 5 |
|
|
abcd syndrome |
|
|
bare lymphocyte syndrome, type i |
|
|