ABCB8 (ATP binding cassette subfamily B member 8)

Gene

• Entrez ID: 11194
• Gene name: ATP binding cassette subfamily B member 8
• Gene symbol: ABCB8
• Synonyms: EST328128, M-ABC1, MABC1, MITOSUR
• Chromosome: 7
• Chromosome location: 7q36.1
• Summary: 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 of function of the related gene in mouse results in a disruption of iron homeostasis between the mitochondria and cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051898	hsa-let-7b-5p	CLASH	23622248

Transcription factors

Transcription factor	Regulation	Reference
SP1	Activation	21046154

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25063848, 31435016
GO:0005524	Function	ATP binding	IDA	31435016
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005739	Component	Mitochondrion	IDA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0016021	Component	Integral component of membrane	IBA	21873635
GO:0016887	Function	ATPase activity	IEA
GO:0031966	Component	Mitochondrial membrane	IDA	9878413
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA	21873635
GO:0043190	Component	ATP-binding cassette (ABC) transporter complex	TAS	9878413
GO:0055085	Process	Transmembrane transport	IBA	21873635
GO:0062157	Component	Mitochondrial ATP-gated potassium channel complex	IDA	31435016
GO:0071805	Process	Potassium ion transmembrane transport	IDA	31435016

Other IDs

• MIM: 605464
• HGNC: 49
• e!Ensembl: ENSG00000197150

Protein

• UniProt ID: Q9NUT2
• Protein 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)
• Protein function: ATP-binding subunit of the mitochondrial potassium channel located in the mitochondrial inner membrane (PubMed:31435016). Together with CCDC51/MITOK, forms a protein complex localized in the mitochondria that mediates ATP-dependent potassium currents across the inner membrane (that is, mitoK(ATP) channel) (PubMed:31435016). Plays a role in mitochondrial iron transport (PubMed:30623799). Required for maintenance of normal cardiac function, possibly by influencing mitochondrial iron export and regulating the maturation of cytosolic iron sulfur cluster-containing enzymes (By similarity).
• PDB: 5OCH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00664	ABC_membrane	148 → 425	ABC transporter transmembrane region	Family
  PF00005	ABC_tran	490 → 640	ABC transporter	Domain

• Sequence:

  MLVHLFRVGIRGGPFPGRLLPPLRFQTFSAVRNTWRNGKTGQLHKAEGEYSDGYRSSSLL
  RAVAHLRSQLWAHLPRAPLAPRWSPSAWCWVGGALLGPMVLSKHPHLCLVALCEAEEAPP
  ASSTPHVVGSRFNWKLFWQFLHPHLLVLGVAVVLALGAALVNVQIPLLLGQLVEVVAKYT
  RDHVGSFMTESQNLSTHLLILYGVQGLLTFGYLVLLSHVGERMAVDMRRALFSSLLRQDI
  TFFDANKTGQLVSRLTTDVQEFKSSFKLVISQGLRSCTQVAGCLVSLSMLSTRLTLLLMV
  ATPALMGVGTLMGSGLRKLSRQCQEQIARAMGVADEALGNVRTVRAFAMEQREEERYGAE
  LEACRCRAEELGRGIALFQGLSNIAFNCMVLGTLFIGGSLVAGQQLTGGDLMSFLVASQT
  VQRSMANLSVLFGQVVRGLSAGARVFEYMALNPCIPLSGGCCVPKEQLRGSVTFQNVCFS
  YPCRPGFEVLKDFTLTLPPGKIVALVGQSGGGKTTVASLLERFYDPTAGVVMLDGRDLRT
  LDPSWLRGQVVGFISQEPVLFGTTIMENIRFGKLEASDEEVYTAAREANAHEFITSFPEG
  YNTVVGERGTTLSGGQKQRLAIARALIKQPTVLILDEATSALDAESERVVQEALDRASAG
  RTVLVIAHRLSTVRGAHCIVVMADGRVWEAGTHEELLKKGGLYAELIRRQALDAPRTAAP
  PPKKPEGPRSHQHKS

• Sequence length: 735