• Gene id: 23457

Gene Summary

• Gene Symbol: ABCB9   Gene   UCSC   Ensembl
• Aliases: EST122234, TAPL
• Gene name: ATP binding cassette subfamily B member 9
• Alternate names: ATP-binding cassette sub-family B member 9, ABC transporter 9 protein, ATP-binding cassette, sub-family B (MDR/TAP), member 9, TAP-like protein,
• Gene location: 12q24.31 (122975159: 122917323)     Exons: 19     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 605453

Protein Summary

• Protein general information: Q9NP78  
  • Name: ATP binding cassette sub family B member 9 (ATP binding cassette transporter 9) (ABC transporter 9 protein) (hABCB9) (TAP like protein) (TAPL)
  • Length: 766  
  • Mass: 84475
  • 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
• Sequence:

  MRLWKAVVVTLAFMSVDICVTTAIYVFSHLDRSLLEDIRHFNIFDSVLDLWAACLYRSCLLLGATIGVAKNSALG
  PRRLRASWLVITLVCLFVGIYAMVKLLLFSEVRRPIRDPWFWALFVWTYISLGASFLLWWLLSTVRPGTQALEPG
  AATEAEGFPGSGRPPPEQASGATLQKLLSYTKPDVAFLVAASFFLIVAALGETFLPYYTGRAIDGIVIQKSMDQF
  STAVVIVCLLAIGSSFAAGIRGGIFTLIFARLNIRLRNCLFRSLVSQETSFFDENRTGDLISRLTSDTTMVSDLV
  SQNINVFLRNTVKVTGVVVFMFSLSWQLSLVTFMGFPIIMMVSNIYGKYYKRLSKEVQNALARASNTAEETISAM
  KTVRSFANEEEEAEVYLRKLQQVYKLNRKEAAAYMYYVWGSGLTLLVVQVSILYYGGHLVISGQMTSGNLIAFII
  YEFVLGDCMESVGSVYSGLMQGVGAAEKVFEFIDRQPTMVHDGSLAPDHLEGRVDFENVTFTYRTRPHTQVLQNV
  SFSLSPGKVTALVGPSGSGKSSCVNILENFYPLEGGRVLLDGKPISAYDHKYLHRVISLVSQEPVLFARSITDNI
  SYGLPTVPFEMVVEAAQKANAHGFIMELQDGYSTETGEKGAQLSGGQKQRVAMARALVRNPPVLILDEATSALDA
  ESEYLIQQAIHGNLQKHTVLIIAHRLSTVEHAHLIVVLDKGRVVQQGTHQQLLAQGGLYAKLVQRQMLGLQPAAD
  FTAGHNEPVANGSHKA

• Structural information:
  • Protein Domains: (188..47-)
    type-1 (/note="ABC-transmembrane)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00441-)
    (504..74-)
    (/note="ABC-transporter)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00434"-)
  • Interpro: IPR003593  IPR011527  IPR036640  IPR003439  IPR017871   IPR030254  IPR027417  IPR039421  
  • Prosite: PS50929 PS00211 PS50893
  • STRING: ENSP00000440288
• Other Databases: GeneCards:  ABCB9  Malacards:  ABCB9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0055085	transmembrane transport	IBA	biological process
GO:0042626	ATPase-coupled transmembrane transporter activity	IBA	molecular function
GO:0015833	peptide transport	IBA	biological process
GO:0015440	ATPase-coupled peptide transmembrane transporter activity	IBA	molecular function
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0015440	ATPase-coupled peptide transmembrane transporter activity	IEA	molecular function
GO:0015833	peptide transport	IEA	biological process
GO:0042626	ATPase-coupled transmembrane transporter activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016887	ATPase activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0015833	peptide transport	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0055085	transmembrane transport	TAS	biological process
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0015440	ATPase-coupled peptide transmembrane transporter activity	IDA	molecular function
GO:0005764	lysosome	IDA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0030176	integral component of endoplasmic reticulum membrane	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	NOT|cellular component
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0005769	early endosome	IDA	NOT|cellular component
GO:0005524	ATP binding	IDA	molecular function
GO:0015833	peptide transport	IDA	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	IDA	cellular component
GO:0022857	transmembrane transporter activity	IDA	molecular function
GO:0015833	peptide transport	IDA	biological process
GO:0015833	peptide transport	IDA	biological process
GO:0015440	ATPase-coupled peptide transmembrane transporter activity	IDA	molecular function
GO:0015440	ATPase-coupled peptide transmembrane transporter activity	IDA	molecular function
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	IDA	NOT|biological process
GO:0016021	integral component of membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0005765	lysosomal membrane	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome
hsa02010	ABC transporters

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R