ABCC9

Protein identityUniProt · HPA

UniProt accession

O60706

Gene

ABCC9

Ensembl

ENSG00000069431

Chromosome

12

Canonical length

1549 aa

Protein class

Disease related genes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Predicted membrane proteins, Transporters

Subcellular location

Nucleoplasm,Plasma membrane

OverviewNCBI Gene

The 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 MRP subfamily which is involved in multi-drug resistance. This protein is thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extra-pancreatic ATP-sensitive potassium channels. Mutations in this gene are associated with cardiomyopathy dilated type 1O. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011]

Canonical amino-acid sequenceUniProt

1549 residues, UniProt reviewed canonical sequence.

>O60706|ABCC9
     1  MSLSFCGNNI SSYNINDGVL QNSCFVDALN LVPHVFLLFI TFPILFIGWG SQSSKVQIHH
    61  NTWLHFPGHN LRWILTFALL FVHVCEIAEG IVSDSRRESR HLHLFMPAVM GFVATTTSIV
   121  YYHNIETSNF PKLLLALFLY WVMAFITKTI KLVKYCQSGL DISNLRFCIT GMMVILNGLL
   181  MAVEINVIRV RRYVFFMNPQ KVKPPEDLQD LGVRFLQPFV NLLSKATYWW MNTLIISAHK
   241  KPIDLKAIGK LPIAMRAVTN YVCLKDAYEE QKKKVADHPN RTPSIWLAMY RAFGRPILLS
   301  STFRYLADLL GFAGPLCISG IVQRVNETQN GTNNTTGISE TLSSKEFLEN AYVLAVLLFL
   361  ALILQRTFLQ ASYYVTIETG INLRGALLAM IYNKILRLST SNLSMGEMTL GQINNLVAIE
   421  TNQLMWFLFL CPNLWAMPVQ IIMGVILLYN LLGSSALVGA AVIVLLAPIQ YFIATKLAEA
   481  QKSTLDYSTE RLKKTNEILK GIKLLKLYAW EHIFCKSVEE TRMKELSSLK TFALYTSLSI
   541  FMNAAIPIAA VLATFVTHAY ASGNNLKPAE AFASLSLFHI LVTPLFLLST VVRFAVKAII
   601  SVQKLNEFLL SDEIGDDSWR TGESSLPFES CKKHTGVQPK TINRKQPGRY HLDSYEQSTR
   661  RLRPAETEDI AIKVTNGYFS WGSGLATLSN IDIRIPTGQL TMIVGQVGCG KSSLLLAILG
   721  EMQTLEGKVH WSNVNESEPS FEATRSRNRY SVAYAAQKPW LLNATVEENI TFGSPFNKQR
   781  YKAVTDACSL QPDIDLLPFG DQTEIGERGI NLSGGQRQRI CVARALYQNT NIVFLDDPFS
   841  ALDIHLSDHL MQEGILKFLQ DDKRTLVLVT HKLQYLTHAD WIIAMKDGSV LREGTLKDIQ
   901  TKDVELYEHW KTLMNRQDQE LEKDMEADQT TLERKTLRRA MYSREAKAQM EDEDEEEEEE
   961  EDEDDNMSTV MRLRTKMPWK TCWRYLTSGG FFLLILMIFS KLLKHSVIVA IDYWLATWTS
  1021  EYSINNTGKA DQTYYVAGFS ILCGAGIFLC LVTSLTVEWM GLTAAKNLHH NLLNKIILGP
  1081  IRFFDTTPLG LILNRFSADT NIIDQHIPPT LESLTRSTLL CLSAIGMISY ATPVFLVALL
  1141  PLGVAFYFIQ KYFRVASKDL QELDDSTQLP LLCHFSETAE GLTTIRAFRH ETRFKQRMLE
  1201  LTDTNNIAYL FLSAANRWLE VRTDYLGACI VLTASIASIS GSSNSGLVGL GLLYALTITN
  1261  YLNWVVRNLA DLEVQMGAVK KVNSFLTMES ENYEGTMDPS QVPEHWPQEG EIKIHDLCVR
  1321  YENNLKPVLK HVKAYIKPGQ KVGICGRTGS GKSSLSLAFF RMVDIFDGKI VIDGIDISKL
  1381  PLHTLRSRLS IILQDPILFS GSIRFNLDPE CKCTDDRLWE ALEIAQLKNM VKSLPGGLDA
  1441  VVTEGGENFS VGQRQLFCLA RAFVRKSSIL IMDEATASID MATENILQKV VMTAFADRTV
  1501  VTIAHRVSSI MDAGLVLVFS EGILVECDTV PNLLAHKNGL FSTLVMTNK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ABCC9 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

15

Mean surface accessibility (rSASA)

0.26

Highest tissue expression

28 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ABCC9.

Disease | AllUniProt

Conditions ABCC9 is implicated in, by any mechanism.

• Cardiomyopathy, dilated, 1O (CMD1O) MIM:608569
• Atrial fibrillation, familial, 12 (ATFB12) MIM:614050
• Hypertrichotic osteochondrodysplasia (HTOCD) MIM:239850
• Intellectual disability and myopathy syndrome (IDMYS) MIM:619719

Disease | GeneticClinVar

104 pathogenic / likely-pathogenic of 2,199 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Dilated cardiomyopathy 1O
• Hypertrichotic osteochondrodysplasia Cantu type
• ABCC9-related disorder
• Cardiovascular phenotype
• Intellectual disability and myopathy syndrome

Disease | ImmuneIEDB

Conditions an epitope on ABCC9 was assayed in.

• human immunodeficiency virus infectious disease T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.48

gnomAD pLI

0

gnomAD missense Z

4.97

DepMap mean gene effect

0.01

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• action potential
• ATP metabolic process
• cardiac conduction
• cardiac muscle cell contraction
• cellular respiration
• cellular response to ATP
• cellular response to calcium ion
• cellular response to chemical stress
• cellular response to potassium ion
• cellular response to xenobiotic stimulus
• coronary vasculature development
• defense response to virus
• fatty acid oxidation
• fibroblast proliferation
• gene expression
• heart morphogenesis
• inorganic cation transmembrane transport
• MAPK cascade
• mitochondrion organization
• monoatomic cation transmembrane transport
• negative regulation of apoptotic process
• negative regulation of blood pressure
• oxygen metabolic process
• potassium ion import across plasma membrane
• potassium ion transmembrane transport
• reactive oxygen species biosynthetic process
• regulation of potassium ion transmembrane transport
• regulation of transcription by RNA polymerase II
• response to activity
• response to ATP
• response to estrogen
• response to hydrogen peroxide
• response to hydrogen sulfide
• response to hypoxia
• response to peptide
• skeletal muscle tissue development
• transmembrane transport
• transport across blood-brain barrier
• vasodilation

Molecular functions

• ABC-type transporter activity
• ATP binding
• ATP hydrolysis activity
• ATPase-coupled inorganic anion transmembrane transporter activity
• ATPase-coupled monoatomic cation transmembrane transporter activity
• ATPase-coupled transmembrane transporter activity
• potassium channel activator activity
• potassium channel activity
• potassium channel regulator activity
• protein-containing complex binding
• sulfonylurea receptor activity
• transmembrane transporter binding

Cellular components

• inward rectifying potassium channel
• mitochondrion
• plasma membrane
• potassium ion-transporting ATPase complex
• sarcolemma
• sarcomere

Protein domainsUniProt · Pfam · InterPro

• ATP-binding cassette sub-family C member 8/9
• ABC transporter-like, ATP-binding domain
• AAA+ ATPase domain
• ABC transporter type 1, transmembrane domain
• ABC transporter-like, conserved site
• P-loop containing nucleoside triphosphate hydrolase
• ABC transporter type 1, transmembrane domain superfamily
• ATP-binding cassette transporter C-like
• ABC transporter
• ABC transporter transmembrane region
• ATP-binding cassette subfamily C member 9
• ATP-binding cassette sub-family C member 9, ATP-binding cassette domain 1

KeywordsUniProt

• ATP-binding
• Atrial fibrillation
• Cardiomyopathy
• Glycoprotein
• Intellectual disability
• Membrane
• Nucleotide-binding
• Receptor
• Repeat
• Transmembrane
• Transmembrane helix
• Transport

InteractionsUniProt · HPA

Protein binding partners of ABCC9 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• KCNJ11
• KCNJ8