• Gene id: 11194

Gene Summary

• Gene Symbol: ABCB8   Gene   UCSC   Ensembl
• Aliases: EST328128, M-ABC1, MABC1, MITOSUR
• Gene name: ATP binding cassette subfamily B member 8
• Alternate names: mitochondrial potassium channel ATP-binding subunit, ATP-binding cassette sub-family B member 8, mitochondrial, ATP-binding cassette, sub-family B (MDR/TAP), member 8, mitochondrial ABC protein, mitochondrial ATP-binding cassette 1, mitochondrial sulfonylurea-,
• Gene location: 7q36.1 (151028421: 151047781)     Exons: 17     NC_000007.14
• Gene summary(Entrez): This nuclear gene encodes a multi-pass membrane protein that is targeted to the mitochondrial inner membrane. The encoded protein is an ATP-dependent transporter that may mediate the passage of organic and inorganic molecules out of the mitochondria. Loss
• OMIM: 600293

Protein Summary

• Protein general information: Q9NUT2  
  • Name: Mitochondrial potassium channel ATP binding subunit (ATP binding cassette sub family B member 8, mitochondrial) (ABCB8) (Mitochondrial ATP binding cassette 1) (M ABC1) (Mitochondrial sulfonylurea receptor) (MITOSUR)
  • Length: 735  
  • Mass: 79989
  • Tissue specificity: Ubiquitous.
• Sequence:

  MLVHLFRVGIRGGPFPGRLLPPLRFQTFSAVRNTWRNGKTGQLHKAEGEYSDGYRSSSLLRAVAHLRSQLWAHLP
  RAPLAPRWSPSAWCWVGGALLGPMVLSKHPHLCLVALCEAEEAPPASSTPHVVGSRFNWKLFWQFLHPHLLVLGV
  AVVLALGAALVNVQIPLLLGQLVEVVAKYTRDHVGSFMTESQNLSTHLLILYGVQGLLTFGYLVLLSHVGERMAV
  DMRRALFSSLLRQDITFFDANKTGQLVSRLTTDVQEFKSSFKLVISQGLRSCTQVAGCLVSLSMLSTRLTLLLMV
  ATPALMGVGTLMGSGLRKLSRQCQEQIARAMGVADEALGNVRTVRAFAMEQREEERYGAELEACRCRAEELGRGI
  ALFQGLSNIAFNCMVLGTLFIGGSLVAGQQLTGGDLMSFLVASQTVQRSMANLSVLFGQVVRGLSAGARVFEYMA
  LNPCIPLSGGCCVPKEQLRGSVTFQNVCFSYPCRPGFEVLKDFTLTLPPGKIVALVGQSGGGKTTVASLLERFYD
  PTAGVVMLDGRDLRTLDPSWLRGQVVGFISQEPVLFGTTIMENIRFGKLEASDEEVYTAAREANAHEFITSFPEG
  YNTVVGERGTTLSGGQKQRLAIARALIKQPTVLILDEATSALDAESERVVQEALDRASAGRTVLVIAHRLSTVRG
  AHCIVVMADGRVWEAGTHEELLKKGGLYAELIRRQALDAPRTAAPPPKKPEGPRSHQHKS

• Structural information:
  • Protein Domains: (150..43-)
    type-1 (/note="ABC-transmembrane)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00441-)
    (472..70-)
    (/note="ABC-transporter)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00434"-)
  • Interpro: IPR003593  IPR011527  IPR036640  IPR003439  IPR017871   IPR027417  IPR039421  
  • Prosite: PS50929 PS00211 PS50893
  • PDB: 5OCH
  • PDBsum: 5OCH
  • STRING: ENSP00000297504
• Other Databases: GeneCards:  ABCB8  Malacards:  ABCB8

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:0062157	mitochondrial ATP-gated potassium channel complex	IDA	cellular component
GO:0005524	ATP binding	IDA	molecular function
GO:0071805	potassium ion transmembrane transport	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
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:0005739	mitochondrion	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0043190	ATP-binding cassette (ABC) transporter complex	TAS	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0031966	mitochondrial membrane	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa02010	ABC transporters

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq