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UniProtKB - O60706 (ABCC9_HUMAN)

Entry version 187 (22 Apr 2020)
Sequence version 2 (25 Nov 2008)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

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

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi705 – 712ATP 1PROSITE-ProRule annotation8
Nucleotide bindingi1346 – 1353ATP 2PROSITE-ProRule annotation8

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionReceptor
Biological processTransport
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1296025 ATP sensitive Potassium channels
R-HSA-382556 ABC-family proteins mediated transport
R-HSA-5578775 Ion homeostasis
R-HSA-5678420 Defective ABCC9 causes dilated cardiomyopathy 10, familial atrial fibrillation 12 and hypertrichotic osteochondrodysplasia

Protein family/group databases

Transport Classification Database

More...TCDBi		3.A.1.208.23 the atp-binding cassette (abc) superfamily

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
ATP-binding cassette sub-family C member 9
Alternative name(s):
Sulfonylurea receptor 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ABCC9
Synonyms:SUR2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:60 ABCC9

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		601439 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O60706

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 30ExtracellularSequence analysisAdd BLAST30
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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

Keywords - Cellular componenti

Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0184831513A → T in CMD1O. 1 PublicationCorresponds to variant dbSNP:rs72559751Ensembl.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.
Related information in OMIM
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 dbSNP:rs387906805EnsemblClinVar.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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06848560H → Y in HTOCD. 1 PublicationCorresponds to variant dbSNP:rs387907230EnsemblClinVar.1
Natural variantiVAR_068486207D → E in HTOCD. 1 Publication1
Natural variantiVAR_068487380G → C in HTOCD. 1 PublicationCorresponds to variant dbSNP:rs1165205076Ensembl.1
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 dbSNP:rs387907211EnsemblClinVar.1
Natural variantiVAR_0684901020S → P in HTOCD. 1 PublicationCorresponds to variant dbSNP:rs387907229EnsemblClinVar.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 dbSNP:rs387907210EnsemblClinVar.1
Natural variantiVAR_0684931054S → Y in HTOCD. 1 Publication1
Natural variantiVAR_0684941116R → C in HTOCD. 1 PublicationCorresponds to variant dbSNP:rs387907228EnsemblClinVar.1
Natural variantiVAR_0684951116R → H in HTOCD; mutant channels show reduced ATP sensitivity. 1 PublicationCorresponds to variant dbSNP:rs387907227EnsemblClinVar.1
Natural variantiVAR_0684961154R → Q in HTOCD; mutant channels show reduced ATP sensitivity. 2 PublicationsCorresponds to variant dbSNP:rs387907209EnsemblClinVar.1
Natural variantiVAR_0684971154R → W in HTOCD. 2 PublicationsCorresponds to variant dbSNP:rs387907208EnsemblClinVar.1

Keywords - Diseasei

Atrial fibrillation, Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		10060

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		ABCC9

MalaCards human disease database

More...MalaCardsi		ABCC9
MIMi239850 phenotype
608569 phenotype
614050 phenotype

Open Targets

More...OpenTargetsi		ENSG00000069431

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		965 Acromegaloid facial appearance syndrome
130 Brugada syndrome
334 Familial atrial fibrillation
154 Familial isolated dilated cardiomyopathy
966 Hypertrichosis-acromegaloid facial appearance syndrome
1517 Hypertrichotic osteochondrodysplasia, Cantu type

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA396

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O60706 Tclin

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL1971

Drug and drug target database

More...DrugBanki		DB00171 ATP
DB01016 Glyburide
DB09220 Nicorandil

DrugCentral

More...DrugCentrali		O60706

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		2746

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ABCC9

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000934021 – 1549ATP-binding cassette sub-family C member 9Add BLAST1549

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi9N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi326N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi330N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi333N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi334N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O60706

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O60706

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		O60706

PeptideAtlas

More...PeptideAtlasi		O60706

PRoteomics IDEntifications database

More...PRIDEi		O60706

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		49533 [O60706-1]
49534 [O60706-2]

PTM databases

CarbonylDB database of protein carbonylation sites

More...CarbonylDBi		O60706

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O60706

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		O60706

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000069431 Expressed in heart and 134 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O60706 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O60706 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000069431 Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with KCNJ11.

1 Publication

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		115371, 3 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-197 Inward rectifying potassium channel complex, Kir6.2-SUR2A [O60706-1]
CPX-199 Inward rectifying potassium channel complex, Kir6.2-SUR2B [O60706-2]

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		O60706

Protein interaction database and analysis system

More...IntActi		O60706, 2 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000261200

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		O60706

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O60706 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		O60706

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>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

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. [View classification]Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0054 Eukaryota
COG1132 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156680

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000604_27_6_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O60706

KEGG Orthology (KO)

More...KOi		K05033

Identification of Orthologs from Complete Genome Data

More...OMAi		CWCYLSS

Database of Orthologous Groups

More...OrthoDBi		801938at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O60706

TreeFam database of animal gene trees

More...TreeFami		TF105201

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.20.1560.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR003593 AAA+_ATPase
IPR011527 ABC1_TM_dom
IPR036640 ABC1_TM_sf
IPR003439 ABC_transporter-like
IPR017871 ABC_transporter_CS
IPR001475 ABCC9
IPR027417 P-loop_NTPase
IPR000388 Sulphorea_rcpt

The PANTHER Classification System

More...PANTHERi		PTHR24223:SF173 PTHR24223:SF173, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00664 ABC_membrane, 2 hits
PF00005 ABC_tran, 2 hits

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR01094 SULFNYLUR2
PR01092 SULFNYLUREAR

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00382 AAA, 2 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF52540 SSF52540, 2 hits
SSF90123 SSF90123, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50929 ABC_TM1F, 2 hits
PS00211 ABC_TRANSPORTER_1, 2 hits
PS50893 ABC_TRANSPORTER_2, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

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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 
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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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YFV4H0YFV4_HUMAN
ATP-binding cassette sub-family C m...
ABCC9
1,176Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q8N4N7Q8N4N7_HUMAN
ABCC9 protein
ABCC9
149Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V1N6G3V1N6_HUMAN
ATP-binding cassette sub-family C m...
ABCC9 hCG_24790
170Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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 dbSNP:rs387907230EnsemblClinVar.1
Natural variantiVAR_068486207D → E in HTOCD. 1 Publication1
Natural variantiVAR_068487380G → C in HTOCD. 1 PublicationCorresponds to variant dbSNP:rs1165205076Ensembl.1
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 dbSNP:rs387907211EnsemblClinVar.1
Natural variantiVAR_0684901020S → P in HTOCD. 1 PublicationCorresponds to variant dbSNP:rs387907229EnsemblClinVar.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 dbSNP:rs387907210EnsemblClinVar.1
Natural variantiVAR_0684931054S → Y in HTOCD. 1 Publication1
Natural variantiVAR_0481431108P → S. Corresponds to variant dbSNP:rs35404804Ensembl.1
Natural variantiVAR_0684941116R → C in HTOCD. 1 PublicationCorresponds to variant dbSNP:rs387907228EnsemblClinVar.1
Natural variantiVAR_0684951116R → H in HTOCD; mutant channels show reduced ATP sensitivity. 1 PublicationCorresponds to variant dbSNP:rs387907227EnsemblClinVar.1
Natural variantiVAR_0684961154R → Q in HTOCD; mutant channels show reduced ATP sensitivity. 2 PublicationsCorresponds to variant dbSNP:rs387907209EnsemblClinVar.1
Natural variantiVAR_0684971154R → W in HTOCD. 2 PublicationsCorresponds to variant dbSNP:rs387907208EnsemblClinVar.1
Natural variantiVAR_0830821160L → R Unknown pathological significance. 1 Publication1
Natural variantiVAR_0184831513A → T in CMD1O. 1 PublicationCorresponds to variant dbSNP:rs72559751Ensembl.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 dbSNP:rs387906805EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0000581508 – 1549SSIMD…VMTNK → HTILTADLVIVMKRGNILEY DTPESLLAQENGVFASFVRA DM in isoform SUR2B. CuratedAdd BLAST42

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF061323 AF061322 Genomic DNA Translation: AAC16057.1
AF061324 AF061322 Genomic DNA Translation: AAC16058.1
AC008250 Genomic DNA No translation available.
AC084806 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS8693.1 [O60706-2]
CCDS8694.1 [O60706-1]

NCBI Reference Sequences

More...RefSeqi		NP_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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000261200; ENSP00000261200; ENSG00000069431 [O60706-2]
ENST00000261201; ENSP00000261201; ENSG00000069431 [O60706-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		10060

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:10060

UCSC genome browser

More...UCSCi		uc001rfh.4 human [O60706-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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 AF061322 Genomic DNA Translation: AAC16057.1
AF061324 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]

3D structure databases

SMRiO60706
ModBaseiSearch...

Protein-protein interaction databases

BioGridi115371, 3 interactors
ComplexPortaliCPX-197 Inward rectifying potassium channel complex, Kir6.2-SUR2A [O60706-1]
CPX-199 Inward rectifying potassium channel complex, Kir6.2-SUR2B [O60706-2]
CORUMiO60706
IntActiO60706, 2 interactors
STRINGi9606.ENSP00000261200

Chemistry databases

BindingDBiO60706
ChEMBLiCHEMBL1971
DrugBankiDB00171 ATP
DB01016 Glyburide
DB09220 Nicorandil
DrugCentraliO60706
GuidetoPHARMACOLOGYi2746

Protein family/group databases

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

PTM databases

CarbonylDBiO60706
iPTMnetiO60706
PhosphoSitePlusiO60706

Polymorphism and mutation databases

BioMutaiABCC9

Proteomic databases

jPOSTiO60706
MassIVEiO60706
PaxDbiO60706
PeptideAtlasiO60706
PRIDEiO60706
ProteomicsDBi49533 [O60706-1]
49534 [O60706-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		12381 222 antibodies

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		10060
DisGeNETi10060

GeneCards: human genes, protein and diseases

More...GeneCardsi		ABCC9
GeneReviewsiABCC9
HGNCiHGNC:60 ABCC9
HPAiENSG00000069431 Low tissue specificity
MalaCardsiABCC9
MIMi239850 phenotype
601439 gene
608569 phenotype
614050 phenotype
neXtProtiNX_O60706
OpenTargetsiENSG00000069431
Orphaneti965 Acromegaloid facial appearance syndrome
130 Brugada syndrome
334 Familial atrial fibrillation
154 Familial isolated dilated cardiomyopathy
966 Hypertrichosis-acromegaloid facial appearance syndrome
1517 Hypertrichotic osteochondrodysplasia, Cantu type
PharmGKBiPA396

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0054 Eukaryota
COG1132 LUCA
GeneTreeiENSGT00940000156680
HOGENOMiCLU_000604_27_6_1
InParanoidiO60706
KOiK05033
OMAiCWCYLSS
OrthoDBi801938at2759
PhylomeDBiO60706
TreeFamiTF105201

Enzyme and pathway databases

ReactomeiR-HSA-1296025 ATP sensitive Potassium channels
R-HSA-382556 ABC-family proteins mediated transport
R-HSA-5578775 Ion homeostasis
R-HSA-5678420 Defective ABCC9 causes dilated cardiomyopathy 10, familial atrial fibrillation 12 and hypertrichotic osteochondrodysplasia

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		ABCC9 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ABCC9

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		10060
PharosiO60706 Tclin

Protein Ontology

More...PROi		PR:O60706
RNActiO60706 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000069431 Expressed in heart and 134 other tissues
ExpressionAtlasiO60706 baseline and differential
GenevisibleiO60706 HS

Family and domain databases

Gene3Di1.20.1560.10, 2 hits
InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR011527 ABC1_TM_dom
IPR036640 ABC1_TM_sf
IPR003439 ABC_transporter-like
IPR017871 ABC_transporter_CS
IPR001475 ABCC9
IPR027417 P-loop_NTPase
IPR000388 Sulphorea_rcpt
PANTHERiPTHR24223:SF173 PTHR24223:SF173, 1 hit
PfamiView protein in Pfam
PF00664 ABC_membrane, 2 hits
PF00005 ABC_tran, 2 hits
PRINTSiPR01094 SULFNYLUR2
PR01092 SULFNYLUREAR
SMARTiView protein in SMART
SM00382 AAA, 2 hits
SUPFAMiSSF52540 SSF52540, 2 hits
SSF90123 SSF90123, 2 hits
PROSITEiView protein in PROSITE
PS50929 ABC_TM1F, 2 hits
PS00211 ABC_TRANSPORTER_1, 2 hits
PS50893 ABC_TRANSPORTER_2, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiABCC9_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O60706
Secondary accession number(s): O60707
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: November 25, 2008
Last modified: April 22, 2020
This is version 187 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

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