ABCB9 (ATP binding cassette subfamily B member 9)

Gene

• Entrez ID: 23457
• Gene name: ATP binding cassette subfamily B member 9
• Gene symbol: ABCB9
• Synonyms (NCBI Gene): EST122234, TAPL
• Chromosome: 12
• Chromosome location: 12q24.31
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003169	hsa-miR-210-3p	immunoprecipitaion, Microarray, qRT-PCR	19826008
MIRT018865	hsa-miR-335-5p	Microarray	18185580
MIRT050137	hsa-miR-26a-5p	CLASH	23622248
MIRT437432	hsa-miR-31-5p	Luciferase reporter assay, qRT-PCR, Western blot	24099915
MIRT437432	hsa-miR-31-5p	Luciferase reporter assay, qRT-PCR, Western blot	24099915
MIRT758243	hsa-miR-1324	CLIP-seq
MIRT758244	hsa-miR-1470	CLIP-seq
MIRT758245	hsa-miR-203	CLIP-seq
MIRT758246	hsa-miR-4287	CLIP-seq
MIRT758247	hsa-miR-4469	CLIP-seq
MIRT758248	hsa-miR-4497	CLIP-seq
MIRT758249	hsa-miR-4667-3p	CLIP-seq
MIRT758250	hsa-miR-4685-3p	CLIP-seq
MIRT758251	hsa-miR-4757-5p	CLIP-seq
MIRT758252	hsa-miR-671-5p	CLIP-seq
MIRT758253	hsa-miR-922	CLIP-seq
MIRT2165143	hsa-miR-1321	CLIP-seq
MIRT2165144	hsa-miR-24	CLIP-seq
MIRT2165145	hsa-miR-3194-5p	CLIP-seq
MIRT2165146	hsa-miR-4435	CLIP-seq
MIRT2165147	hsa-miR-4739	CLIP-seq
MIRT2165148	hsa-miR-4749-3p	CLIP-seq
MIRT2165149	hsa-miR-4756-5p	CLIP-seq
MIRT2165150	hsa-miR-483-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0002474	Process	Antigen processing and presentation of peptide antigen via MHC class I	IDA	17977821
GO:0005515	Function	Protein binding	IPI	21194361, 22641697, 30877195
GO:0005524	Function	ATP binding	IDA	15863492
GO:0005524	Function	ATP binding	IEA
GO:0005764	Component	Lysosome	IDA	22641697, 30877195
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	IDA	10748049, 17977821, 18952056, 21194361, 21212514
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005769	Component	Early endosome	IDA	17977821
GO:0005783	Component	Endoplasmic reticulum	IDA	17977821
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	1101155, 11011155, 15577206
GO:0006518	Process	Peptide metabolic process	IDA	25646430, 31417173
GO:0015031	Process	Protein transport	IEA
GO:0015421	Function	ABC-type oligopeptide transporter activity	IDA	15863492, 25646430, 30877195, 31417173
GO:0015421	Function	ABC-type oligopeptide transporter activity	IEA
GO:0015440	Function	ABC-type peptide transporter activity	IBA
GO:0015440	Function	ABC-type peptide transporter activity	IDA	17977821, 18434309, 22641697
GO:0015440	Function	ABC-type peptide transporter activity	IEA
GO:0015833	Process	Peptide transport	IDA	15863492, 17977821, 18434309, 22641697, 25646430, 31417173
GO:0015833	Process	Peptide transport	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IDA	18434309
GO:0016020	Component	Membrane	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0022857	Function	Transmembrane transporter activity	IDA	18434309
GO:0035672	Process	Oligopeptide transmembrane transport	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	18434309
GO:0042803	Function	Protein homodimerization activity	IPI	18952056
GO:0055085	Process	Transmembrane transport	IBA
GO:0055085	Process	Transmembrane transport	IEA
GO:0140359	Function	ABC-type transporter activity	IEA

Other IDs

• MIM: 605453
• HGNC: 50
• e!Ensembl: ENSG00000150967

Protein

• UniProt ID: Q9NP78
• Protein name: ABC-type oligopeptide transporter ABCB9 (EC 7.4.2.6) (ATP-binding cassette sub-family B member 9) (ATP-binding cassette transporter 9) (ABC transporter 9 protein) (hABCB9) (TAP-like protein) (TAPL)
• Protein function: ATP-dependent low-affinity peptide transporter which translocates a broad spectrum of peptides from the cytosol to the lysosomal lumen for degradation (PubMed:15863492, PubMed:17977821, PubMed:18434309, PubMed:22641697, PubMed:25646430, PubMed:3
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00664	ABC_membrane	188 → 457	ABC transporter transmembrane region	Family
  PF00005	ABC_tran	522 → 671	ABC transporter	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in testis, and at moderate levels in brain, spinal cord, and thyroid. Not expressed in monocytes but strongly expressed during differentiation of monocytes to dendritic cells and macrophages. {ECO:0000269|PubMed:107480
• Sequence:

  MRLWKAVVVTLAFMSVDICVTTAIYVFSHLDRSLLEDIRHFNIFDSVLDLWAACLYRSCL
  LLGATIGVAKNSALGPRRLRASWLVITLVCLFVGIYAMVKLLLFSEVRRPIRDPWFWALF
  VWTYISLGASFLLWWLLSTVRPGTQALEPGAATEAEGFPGSGRPPPEQASGATLQKLLSY
  TKPDVAFLVAASFFLIVAALGETFLPYYTGRAIDGIVIQKSMDQFSTAVVIVCLLAIGSS
  FAAGIRGGIFTLIFARLNIRLRNCLFRSLVSQETSFFDENRTGDLISRLTSDTTMVSDLV
  SQNINVFLRNTVKVTGVVVFMFSLSWQLSLVTFMGFPIIMMVSNIYGKYYKRLSKEVQNA
  LARASNTAEETISAMKTVRSFANEEEEAEVYLRKLQQVYKLNRKEAAAYMYYVWGSGLTL
  LVVQVSILYYGGHLVISGQMTSGNLIAFIIYEFVLGDCMESVGSVYSGLMQGVGAAEKVF
  EFIDRQPTMVHDGSLAPDHLEGRVDFENVTFTYRTRPHTQVLQNVSFSLSPGKVTALVGP
  SGSGKSSCVNILENFYPLEGGRVLLDGKPISAYDHKYLHRVISLVSQEPVLFARSITDNI
  SYGLPTVPFEMVVEAAQKANAHGFIMELQDGYSTETGEKGAQLSGGQKQRVAMARALVRN
  PPVLILDEATSALDAESEYLIQQAIHGNLQKHTVLIIAHRLSTVEHAHLIVVLDKGRVVQ
  QGTHQQLLAQGGLYAKLVQRQMLGLQPAADFTAGHNEPVANGSHKA

• Sequence length: 766

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	31083274		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	25799151, 27115357	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	24509480		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	28869590		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	31083274		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31083274		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24099915		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	31083274		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31083274	Inhibit	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	28851441	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28552197		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	28552197	Associate	★☆☆☆☆ Found in Text Mining only