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Protein

ATP-binding cassette sub-family C member 9

Gene

ABCC9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with KCNJ11. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi705 – 712ATP 1PROSITE-ProRule annotation8
Nucleotide bindingi1346 – 1353ATP 2PROSITE-ProRule annotation8

GO - Molecular functioni

GO - Biological processi

  • defense response to virus Source: MGI
  • potassium ion import Source: BHF-UCL
  • potassium ion transport Source: ProtInc
  • regulation of cardiac conduction Source: Reactome
  • transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Receptor

Keywords - Biological processi

Transport

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000069431-MONOMER.
ReactomeiR-HSA-1296025. ATP sensitive Potassium channels.
R-HSA-382556. ABC-family proteins mediated transport.
R-HSA-5578775. Ion homeostasis.

Protein family/group databases

TCDBi3.A.1.208.23. the atp-binding cassette (abc) superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
ATP-binding cassette sub-family C member 9
Alternative name(s):
Sulfonylurea receptor 2
Gene namesi
Name:ABCC9
Synonyms:SUR2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:60. ABCC9.

Subcellular locationi

  • Membrane PROSITE-ProRule annotation; Multi-pass membrane protein PROSITE-ProRule annotation

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 30ExtracellularSequence analysisAdd BLAST30
Transmembranei31 – 51Helical; Name=1PROSITE-ProRule annotationAdd BLAST21
Topological domaini52 – 72CytoplasmicSequence analysisAdd BLAST21
Transmembranei73 – 93Helical; Name=2PROSITE-ProRule annotationAdd BLAST21
Topological domaini94 – 101ExtracellularSequence analysis8
Transmembranei102 – 122Helical; Name=3PROSITE-ProRule annotationAdd BLAST21
Topological domaini123 – 132CytoplasmicSequence analysis10
Transmembranei133 – 153Helical; Name=4PROSITE-ProRule annotationAdd BLAST21
Topological domaini154 – 167ExtracellularSequence analysisAdd BLAST14
Transmembranei168 – 188Helical; Name=5PROSITE-ProRule annotationAdd BLAST21
Topological domaini189 – 301CytoplasmicSequence analysisAdd BLAST113
Transmembranei302 – 322Helical; Name=6PROSITE-ProRule annotationAdd BLAST21
Topological domaini323 – 350ExtracellularSequence analysisAdd BLAST28
Transmembranei351 – 371Helical; Name=7PROSITE-ProRule annotationAdd BLAST21
Topological domaini372 – 423CytoplasmicSequence analysisAdd BLAST52
Transmembranei424 – 444Helical; Name=8PROSITE-ProRule annotationAdd BLAST21
Topological domaini445 – 455ExtracellularSequence analysisAdd BLAST11
Transmembranei456 – 476Helical; Name=9PROSITE-ProRule annotationAdd BLAST21
Topological domaini477 – 531CytoplasmicSequence analysisAdd BLAST55
Transmembranei532 – 552Helical; Name=10PROSITE-ProRule annotationAdd BLAST21
Topological domaini553 – 571ExtracellularSequence analysisAdd BLAST19
Transmembranei572 – 592Helical; Name=11PROSITE-ProRule annotationAdd BLAST21
Topological domaini593 – 990CytoplasmicSequence analysisAdd BLAST398
Transmembranei991 – 1011Helical; Name=12PROSITE-ProRule annotationAdd BLAST21
Topological domaini1012 – 1034ExtracellularSequence analysisAdd BLAST23
Transmembranei1035 – 1055Helical; Name=13PROSITE-ProRule annotationAdd BLAST21
Topological domaini1056 – 1127CytoplasmicSequence analysisAdd BLAST72
Transmembranei1128 – 1148Helical; Name=14PROSITE-ProRule annotationAdd BLAST21
Topological domaini1149 – 1245ExtracellularSequence analysisAdd BLAST97
Transmembranei1246 – 1266Helical; Name=15PROSITE-ProRule annotationAdd BLAST21
Topological domaini1267 – 1549CytoplasmicSequence analysisAdd BLAST283

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Cardiomyopathy, dilated 1O (CMD1O)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
See also OMIM:608569
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0184831513A → T in CMD1O. 1 PublicationCorresponds to variant rs72559751dbSNPEnsembl.1
Atrial fibrillation, familial, 12 (ATFB12)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.
See also OMIM:614050
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0662101547T → I in ATFB12; compromises adenine nucleotide-dependent induction of KATP current; mutant ABCC9 that is co-expressed with KCNJ11 pore generates an aberrant channel that retains ATP-induced inhibition of potassium current, but shows a blunted response to ADP. 1 PublicationCorresponds to variant rs387906805dbSNPEnsembl.1
Hypertrichotic osteochondrodysplasia (HTOCD)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. The hypertrichosis leads to thick scalp hair, which extends onto the forehead, and a general increase in body hair. In addition, macrocephaly and coarse facial features, including a broad nasal bridge, epicanthal folds, a wide mouth, and full lips, can be suggestive of a storage disorder. About half of affected individuals are macrosomic and edematous at birth, whereas in childhood they usually have a muscular appearance with little subcutaneous fat. Thickened calvarium, narrow thorax, wide ribs, flattened or ovoid vertebral bodies, coxa valga, osteopenia, enlarged medullary canals, and metaphyseal widening of long bones have been reported. Cardiac manifestations such as patent ductus arteriosus, ventricular hypertrophy, pulmonary hypertension, and pericardial effusions are present in approximately 80% of cases. Motor development is usually delayed due to hypotonia. Most patients have a mild speech delay, and a small percentage have learning difficulties or intellectual disability.
See also OMIM:239850
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06848560H → Y in HTOCD. 1 PublicationCorresponds to variant rs387907230dbSNPEnsembl.1
Natural variantiVAR_068486207D → E in HTOCD. 1 Publication1
Natural variantiVAR_068487380G → C in HTOCD. 1 Publication1
Natural variantiVAR_068488432P → L in HTOCD; mutant channels show reduced ATP sensitivity; rat ABCC9 construct containing this mutation shows gain of function. 2 Publications1
Natural variantiVAR_068489478A → V in HTOCD; rat ABCC9 construct containing this mutation shows gain of function. 2 PublicationsCorresponds to variant rs387907211dbSNPEnsembl.1
Natural variantiVAR_0684901020S → P in HTOCD. 1 PublicationCorresponds to variant rs387907229dbSNPEnsembl.1
Natural variantiVAR_0684911039F → S in HTOCD. 1 Publication1
Natural variantiVAR_0684921043C → Y in HTOCD; rat ABCC9 construct containing this mutation shows gain of function. 2 PublicationsCorresponds to variant rs387907210dbSNPEnsembl.1
Natural variantiVAR_0684931054S → Y in HTOCD. 1 Publication1
Natural variantiVAR_0684941116R → C in HTOCD. 1 PublicationCorresponds to variant rs387907228dbSNPEnsembl.1
Natural variantiVAR_0684951116R → H in HTOCD; mutant channels show reduced ATP sensitivity. 1 PublicationCorresponds to variant rs387907227dbSNPEnsembl.1
Natural variantiVAR_0684961154R → Q in HTOCD; mutant channels show reduced ATP sensitivity. 2 PublicationsCorresponds to variant rs387907209dbSNPEnsembl.1
Natural variantiVAR_0684971154R → W in HTOCD. 2 PublicationsCorresponds to variant rs387907208dbSNPEnsembl.1

Keywords - Diseasei

Atrial fibrillation, Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNETi10060.
MalaCardsiABCC9.
MIMi239850. phenotype.
608569. phenotype.
614050. phenotype.
OpenTargetsiENSG00000069431.
Orphaneti965. Acromegaloid facial appearance syndrome.
334. Familial atrial fibrillation.
154. Familial isolated dilated cardiomyopathy.
966. Hypertrichosis-acromegaloid facial appearance syndrome.
1517. Hypertrichotic osteochondrodysplasia, Cantu type.
PharmGKBiPA396.

Chemistry databases

ChEMBLiCHEMBL1971.
DrugBankiDB00171. Adenosine triphosphate.
DB01016. Glyburide.
GuidetoPHARMACOLOGYi2746.

Polymorphism and mutation databases

BioMutaiABCC9.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000934021 – 1549ATP-binding cassette sub-family C member 9Add BLAST1549

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi9N-linked (GlcNAc...)Sequence analysis1
Glycosylationi326N-linked (GlcNAc...)Sequence analysis1
Glycosylationi330N-linked (GlcNAc...)Sequence analysis1
Glycosylationi333N-linked (GlcNAc...)Sequence analysis1
Glycosylationi334N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiO60706.
PeptideAtlasiO60706.
PRIDEiO60706.

PTM databases

iPTMnetiO60706.
PhosphoSitePlusiO60706.

Expressioni

Gene expression databases

BgeeiENSG00000069431.
CleanExiHS_ABCC9.
ExpressionAtlasiO60706. baseline and differential.
GenevisibleiO60706. HS.

Organism-specific databases

HPAiHPA007279.

Interactioni

Subunit structurei

Interacts with KCNJ11.1 Publication

GO - Molecular functioni

  • ion channel binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi115371. 3 interactors.
IntActiO60706. 1 interactor.
STRINGi9606.ENSP00000261200.

Chemistry databases

BindingDBiO60706.

Structurei

3D structure databases

ProteinModelPortaliO60706.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini297 – 597ABC transmembrane type-1 1PROSITE-ProRule annotationAdd BLAST301
Domaini672 – 912ABC transporter 1PROSITE-ProRule annotationAdd BLAST241
Domaini994 – 1274ABC transmembrane type-1 2PROSITE-ProRule annotationAdd BLAST281
Domaini1312 – 1546ABC transporter 2PROSITE-ProRule annotationAdd BLAST235

Sequence similaritiesi

Contains 2 ABC transmembrane type-1 domains.PROSITE-ProRule annotation
Contains 2 ABC transporter domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0054. Eukaryota.
COG1132. LUCA.
GeneTreeiENSGT00860000133722.
HOVERGENiHBG101342.
InParanoidiO60706.
KOiK05033.
OMAiHAYASGN.
OrthoDBiEOG091G00IN.
PhylomeDBiO60706.
TreeFamiTF105201.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR003593. AAA+_ATPase.
IPR011527. ABC1_TM_dom.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR001475. ABCC9.
IPR027417. P-loop_NTPase.
IPR000388. Sulphorea_rcpt.
[Graphical view]
PANTHERiPTHR24223:SF173. PTHR24223:SF173. 4 hits.
PfamiPF00664. ABC_membrane. 2 hits.
PF00005. ABC_tran. 2 hits.
[Graphical view]
PRINTSiPR01094. SULFNYLUR2.
PR01092. SULFNYLUREAR.
SMARTiSM00382. AAA. 2 hits.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
SSF90123. SSF90123. 2 hits.
PROSITEiPS50929. ABC_TM1F. 2 hits.
PS00211. ABC_TRANSPORTER_1. 2 hits.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform SUR2A (identifier: O60706-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSLSFCGNNI SSYNINDGVL QNSCFVDALN LVPHVFLLFI TFPILFIGWG
60 70 80 90 100
SQSSKVQIHH NTWLHFPGHN LRWILTFALL FVHVCEIAEG IVSDSRRESR
110 120 130 140 150
HLHLFMPAVM GFVATTTSIV YYHNIETSNF PKLLLALFLY WVMAFITKTI
160 170 180 190 200
KLVKYCQSGL DISNLRFCIT GMMVILNGLL MAVEINVIRV RRYVFFMNPQ
210 220 230 240 250
KVKPPEDLQD LGVRFLQPFV NLLSKATYWW MNTLIISAHK KPIDLKAIGK
260 270 280 290 300
LPIAMRAVTN YVCLKDAYEE QKKKVADHPN RTPSIWLAMY RAFGRPILLS
310 320 330 340 350
STFRYLADLL GFAGPLCISG IVQRVNETQN GTNNTTGISE TLSSKEFLEN
360 370 380 390 400
AYVLAVLLFL ALILQRTFLQ ASYYVTIETG INLRGALLAM IYNKILRLST
410 420 430 440 450
SNLSMGEMTL GQINNLVAIE TNQLMWFLFL CPNLWAMPVQ IIMGVILLYN
460 470 480 490 500
LLGSSALVGA AVIVLLAPIQ YFIATKLAEA QKSTLDYSTE RLKKTNEILK
510 520 530 540 550
GIKLLKLYAW EHIFCKSVEE TRMKELSSLK TFALYTSLSI FMNAAIPIAA
560 570 580 590 600
VLATFVTHAY ASGNNLKPAE AFASLSLFHI LVTPLFLLST VVRFAVKAII
610 620 630 640 650
SVQKLNEFLL SDEIGDDSWR TGESSLPFES CKKHTGVQPK TINRKQPGRY
660 670 680 690 700
HLDSYEQSTR RLRPAETEDI AIKVTNGYFS WGSGLATLSN IDIRIPTGQL
710 720 730 740 750
TMIVGQVGCG KSSLLLAILG EMQTLEGKVH WSNVNESEPS FEATRSRNRY
760 770 780 790 800
SVAYAAQKPW LLNATVEENI TFGSPFNKQR YKAVTDACSL QPDIDLLPFG
810 820 830 840 850
DQTEIGERGI NLSGGQRQRI CVARALYQNT NIVFLDDPFS ALDIHLSDHL
860 870 880 890 900
MQEGILKFLQ DDKRTLVLVT HKLQYLTHAD WIIAMKDGSV LREGTLKDIQ
910 920 930 940 950
TKDVELYEHW KTLMNRQDQE LEKDMEADQT TLERKTLRRA MYSREAKAQM
960 970 980 990 1000
EDEDEEEEEE EDEDDNMSTV MRLRTKMPWK TCWRYLTSGG FFLLILMIFS
1010 1020 1030 1040 1050
KLLKHSVIVA IDYWLATWTS EYSINNTGKA DQTYYVAGFS ILCGAGIFLC
1060 1070 1080 1090 1100
LVTSLTVEWM GLTAAKNLHH NLLNKIILGP IRFFDTTPLG LILNRFSADT
1110 1120 1130 1140 1150
NIIDQHIPPT LESLTRSTLL CLSAIGMISY ATPVFLVALL PLGVAFYFIQ
1160 1170 1180 1190 1200
KYFRVASKDL QELDDSTQLP LLCHFSETAE GLTTIRAFRH ETRFKQRMLE
1210 1220 1230 1240 1250
LTDTNNIAYL FLSAANRWLE VRTDYLGACI VLTASIASIS GSSNSGLVGL
1260 1270 1280 1290 1300
GLLYALTITN YLNWVVRNLA DLEVQMGAVK KVNSFLTMES ENYEGTMDPS
1310 1320 1330 1340 1350
QVPEHWPQEG EIKIHDLCVR YENNLKPVLK HVKAYIKPGQ KVGICGRTGS
1360 1370 1380 1390 1400
GKSSLSLAFF RMVDIFDGKI VIDGIDISKL PLHTLRSRLS IILQDPILFS
1410 1420 1430 1440 1450
GSIRFNLDPE CKCTDDRLWE ALEIAQLKNM VKSLPGGLDA VVTEGGENFS
1460 1470 1480 1490 1500
VGQRQLFCLA RAFVRKSSIL IMDEATASID MATENILQKV VMTAFADRTV
1510 1520 1530 1540
VTIAHRVSSI MDAGLVLVFS EGILVECDTV PNLLAHKNGL FSTLVMTNK
Length:1,549
Mass (Da):174,223
Last modified:November 25, 2008 - v2
Checksum:i55508C9343AB1218
GO
Isoform SUR2B (identifier: O60706-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1508-1549: SSIMDAGLVL...LFSTLVMTNK → HTILTADLVI...VFASFVRADM

Show »
Length:1,549
Mass (Da):174,425
Checksum:iA5BB684EEE7156E2
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti586F → S in AAC16057 (PubMed:9457174).Curated1
Sequence conflicti586F → S in AAC16058 (PubMed:9457174).Curated1
Sequence conflicti589S → F in AAC16057 (PubMed:9457174).Curated1
Sequence conflicti589S → F in AAC16058 (PubMed:9457174).Curated1
Sequence conflicti1503I → M in AAC16057 (PubMed:9457174).Curated1
Sequence conflicti1503I → M in AAC16058 (PubMed:9457174).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06848560H → Y in HTOCD. 1 PublicationCorresponds to variant rs387907230dbSNPEnsembl.1
Natural variantiVAR_068486207D → E in HTOCD. 1 Publication1
Natural variantiVAR_068487380G → C in HTOCD. 1 Publication1
Natural variantiVAR_068488432P → L in HTOCD; mutant channels show reduced ATP sensitivity; rat ABCC9 construct containing this mutation shows gain of function. 2 Publications1
Natural variantiVAR_068489478A → V in HTOCD; rat ABCC9 construct containing this mutation shows gain of function. 2 PublicationsCorresponds to variant rs387907211dbSNPEnsembl.1
Natural variantiVAR_0684901020S → P in HTOCD. 1 PublicationCorresponds to variant rs387907229dbSNPEnsembl.1
Natural variantiVAR_0684911039F → S in HTOCD. 1 Publication1
Natural variantiVAR_0684921043C → Y in HTOCD; rat ABCC9 construct containing this mutation shows gain of function. 2 PublicationsCorresponds to variant rs387907210dbSNPEnsembl.1
Natural variantiVAR_0684931054S → Y in HTOCD. 1 Publication1
Natural variantiVAR_0481431108P → S.Corresponds to variant rs35404804dbSNPEnsembl.1
Natural variantiVAR_0684941116R → C in HTOCD. 1 PublicationCorresponds to variant rs387907228dbSNPEnsembl.1
Natural variantiVAR_0684951116R → H in HTOCD; mutant channels show reduced ATP sensitivity. 1 PublicationCorresponds to variant rs387907227dbSNPEnsembl.1
Natural variantiVAR_0684961154R → Q in HTOCD; mutant channels show reduced ATP sensitivity. 2 PublicationsCorresponds to variant rs387907209dbSNPEnsembl.1
Natural variantiVAR_0684971154R → W in HTOCD. 2 PublicationsCorresponds to variant rs387907208dbSNPEnsembl.1
Natural variantiVAR_0184831513A → T in CMD1O. 1 PublicationCorresponds to variant rs72559751dbSNPEnsembl.1
Natural variantiVAR_0662101547T → I in ATFB12; compromises adenine nucleotide-dependent induction of KATP current; mutant ABCC9 that is co-expressed with KCNJ11 pore generates an aberrant channel that retains ATP-induced inhibition of potassium current, but shows a blunted response to ADP. 1 PublicationCorresponds to variant rs387906805dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0000581508 – 1549SSIMD…VMTNK → HTILTADLVIVMKRGNILEY DTPESLLAQENGVFASFVRA DM in isoform SUR2B. CuratedAdd BLAST42

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF061323
, AF061289, AF061290, AF061291, AF061292, AF061293, AF061294, AF061295, AF061296, AF061297, AF061298, AF061299, AF061300, AF061301, AF061302, AF061303, AF061304, AF061305, AF061306, AF061307, AF061308, AF061309, AF061310, AF061311, AF061312, AF061313, AF061314, AF061315, AF061316, AF061317, AF061318, AF061319, AF061320, AF061321, AF061322 Genomic DNA. Translation: AAC16057.1.
AF061324
, AF061289, AF061290, AF061291, AF061292, AF061293, AF061294, AF061295, AF061296, AF061297, AF061298, AF061299, AF061300, AF061301, AF061302, AF061303, AF061304, AF061305, AF061306, AF061307, AF061308, AF061309, AF061310, AF061311, AF061312, AF061313, AF061314, AF061315, AF061316, AF061317, AF061318, AF061319, AF061320, AF061321, AF061322 Genomic DNA. Translation: AAC16058.1.
AC008250 Genomic DNA. No translation available.
AC084806 Genomic DNA. No translation available.
CCDSiCCDS8693.1. [O60706-2]
CCDS8694.1. [O60706-1]
RefSeqiNP_005682.2. NM_005691.3. [O60706-1]
NP_064693.2. NM_020297.3. [O60706-2]
XP_005253341.1. XM_005253284.3. [O60706-2]
XP_005253343.1. XM_005253286.3. [O60706-2]
XP_005253344.1. XM_005253287.4. [O60706-1]
XP_005253345.1. XM_005253288.3. [O60706-2]
XP_011518847.1. XM_011520545.2. [O60706-2]
UniGeneiHs.732701.

Genome annotation databases

EnsembliENST00000261200; ENSP00000261200; ENSG00000069431. [O60706-2]
ENST00000261201; ENSP00000261201; ENSG00000069431. [O60706-1]
GeneIDi10060.
KEGGihsa:10060.
UCSCiuc001rfh.4. human. [O60706-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Protein Spotlight

On The Other Side - Issue 139 of June 2012

ABCMdb

Database for mutations in ABC proteins

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF061323
, AF061289, AF061290, AF061291, AF061292, AF061293, AF061294, AF061295, AF061296, AF061297, AF061298, AF061299, AF061300, AF061301, AF061302, AF061303, AF061304, AF061305, AF061306, AF061307, AF061308, AF061309, AF061310, AF061311, AF061312, AF061313, AF061314, AF061315, AF061316, AF061317, AF061318, AF061319, AF061320, AF061321, AF061322 Genomic DNA. Translation: AAC16057.1.
AF061324
, AF061289, AF061290, AF061291, AF061292, AF061293, AF061294, AF061295, AF061296, AF061297, AF061298, AF061299, AF061300, AF061301, AF061302, AF061303, AF061304, AF061305, AF061306, AF061307, AF061308, AF061309, AF061310, AF061311, AF061312, AF061313, AF061314, AF061315, AF061316, AF061317, AF061318, AF061319, AF061320, AF061321, AF061322 Genomic DNA. Translation: AAC16058.1.
AC008250 Genomic DNA. No translation available.
AC084806 Genomic DNA. No translation available.
CCDSiCCDS8693.1. [O60706-2]
CCDS8694.1. [O60706-1]
RefSeqiNP_005682.2. NM_005691.3. [O60706-1]
NP_064693.2. NM_020297.3. [O60706-2]
XP_005253341.1. XM_005253284.3. [O60706-2]
XP_005253343.1. XM_005253286.3. [O60706-2]
XP_005253344.1. XM_005253287.4. [O60706-1]
XP_005253345.1. XM_005253288.3. [O60706-2]
XP_011518847.1. XM_011520545.2. [O60706-2]
UniGeneiHs.732701.

3D structure databases

ProteinModelPortaliO60706.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115371. 3 interactors.
IntActiO60706. 1 interactor.
STRINGi9606.ENSP00000261200.

Chemistry databases

BindingDBiO60706.
ChEMBLiCHEMBL1971.
DrugBankiDB00171. Adenosine triphosphate.
DB01016. Glyburide.
GuidetoPHARMACOLOGYi2746.

Protein family/group databases

TCDBi3.A.1.208.23. the atp-binding cassette (abc) superfamily.

PTM databases

iPTMnetiO60706.
PhosphoSitePlusiO60706.

Polymorphism and mutation databases

BioMutaiABCC9.

Proteomic databases

PaxDbiO60706.
PeptideAtlasiO60706.
PRIDEiO60706.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261200; ENSP00000261200; ENSG00000069431. [O60706-2]
ENST00000261201; ENSP00000261201; ENSG00000069431. [O60706-1]
GeneIDi10060.
KEGGihsa:10060.
UCSCiuc001rfh.4. human. [O60706-1]

Organism-specific databases

CTDi10060.
DisGeNETi10060.
GeneCardsiABCC9.
GeneReviewsiABCC9.
HGNCiHGNC:60. ABCC9.
HPAiHPA007279.
MalaCardsiABCC9.
MIMi239850. phenotype.
601439. gene.
608569. phenotype.
614050. phenotype.
neXtProtiNX_O60706.
OpenTargetsiENSG00000069431.
Orphaneti965. Acromegaloid facial appearance syndrome.
334. Familial atrial fibrillation.
154. Familial isolated dilated cardiomyopathy.
966. Hypertrichosis-acromegaloid facial appearance syndrome.
1517. Hypertrichotic osteochondrodysplasia, Cantu type.
PharmGKBiPA396.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0054. Eukaryota.
COG1132. LUCA.
GeneTreeiENSGT00860000133722.
HOVERGENiHBG101342.
InParanoidiO60706.
KOiK05033.
OMAiHAYASGN.
OrthoDBiEOG091G00IN.
PhylomeDBiO60706.
TreeFamiTF105201.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000069431-MONOMER.
ReactomeiR-HSA-1296025. ATP sensitive Potassium channels.
R-HSA-382556. ABC-family proteins mediated transport.
R-HSA-5578775. Ion homeostasis.

Miscellaneous databases

GeneWikiiABCC9.
GenomeRNAii10060.
PROiO60706.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000069431.
CleanExiHS_ABCC9.
ExpressionAtlasiO60706. baseline and differential.
GenevisibleiO60706. HS.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR003593. AAA+_ATPase.
IPR011527. ABC1_TM_dom.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR001475. ABCC9.
IPR027417. P-loop_NTPase.
IPR000388. Sulphorea_rcpt.
[Graphical view]
PANTHERiPTHR24223:SF173. PTHR24223:SF173. 4 hits.
PfamiPF00664. ABC_membrane. 2 hits.
PF00005. ABC_tran. 2 hits.
[Graphical view]
PRINTSiPR01094. SULFNYLUR2.
PR01092. SULFNYLUREAR.
SMARTiSM00382. AAA. 2 hits.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
SSF90123. SSF90123. 2 hits.
PROSITEiPS50929. ABC_TM1F. 2 hits.
PS00211. ABC_TRANSPORTER_1. 2 hits.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiABCC9_HUMAN
AccessioniPrimary (citable) accession number: O60706
Secondary accession number(s): O60707
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: November 25, 2008
Last modified: November 30, 2016
This is version 158 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

May contribute to the regulation of sleep duration. An intronic variant of this gene may account for about 5% of the variation of sleep duration between individuals (PubMed:22105623). Sleep duration is influenced both by environmental and genetic factors, with an estimated heritability of about 40%. Numerous genes are expected to contribute to the regulation of sleep duration.1 Publication

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.