KCNN3
entrez
3782
canonical
uniprot
Q9UGI6
canonical
ensembl
ENSG00000143603
resolver
ensp
ENSP00000271915
resolver
ensp
ENSP00000351295
resolver
ensp
ENSP00000354764
resolver
ensp
ENSP00000481848
resolver
enst
ENST00000618040
resolver
genesymbol
KCNN3
resolver
genesymbol_syn
K3
resolver
hgnc
HGNC:6292
resolver
uniprot
A0A087WYJ0
resolver
uniprot
B1ANX0
resolver
uniprot
O43517
resolver
uniprot
Q86VF9
resolver
uniprot
Q8WXG7
resolver
uniprot_entry
A0A087WYJ0_HUMAN
resolver
uniprot_entry
KCNN3_HUMAN
resolver
uniprot_sec
B1ANX0
resolver
uniprot_sec
O43517
resolver
uniprot_sec
Q86VF9
resolver
uniprot_sec
Q8WXG7
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by bee venom neurotoxin apamin. {ECO:0000269|PubMed:20562108, ECO:0000269|PubMed:31155282}.
uniprot
proteins
amino_acid_sequence
MDTSGHFHDSGVGDLDEDPKCPCPSSGDEQQQQQQQQQQQQPPPPAPPAAPQQPLGPSLQPQPPQLQQQQQQQQQQQQQQPPHPLSQLAQLQSQPVHPGLLHSSPTAFRAPPSSNSTAILHPSSRQGSQLNLNDHLLGHSPSSTATSGPGGGSRHRQASPLVHRRDSNPFTEIAMSSCKYSGGVMKPLSRLSASRRNLIEAETEGQPLQLFSPSNPPEIVISSREDNHAHQTLLHHPNATHNHQHAGTTASSTTFPKANKRKNQNIGYKLGHRRALFEKRKRLSDYALIFGMFGIVVMVIETELSWGLYSKDSMFSLALKCLISLSTIILLGLIIAYHTREVQLFVIDNGADDWRIAMTYERILYISLEMLVCAIHPIPGEYKFFWTARLAFSYTPSRAEADVDIILSIPMFLRLYLIARVMLLHSKLFTDASSRSIGALNKINFNTRFVMKTLMTICPGTVLLVFSISLWIIAAWTVRVCERYHDQQDVTSNFLGAMWLISITFLSIGYGDMVPHTYCGKGVCLLTGIMGAGCTALVVAVVARKLELTKAEKHVHNFMMDTQLTKRIKNAAANVLRETWLIYKHTKLLKKIDHAKVRKHQRKFLQAIHQLRSVKMEQRKLSDQANTLVDLSKMQNVMYDLITELNDRSEDLEKQIGSLESKLEHLTASFNSLPLLIADTLRQQQQQLLSAIIEARGVSVAVGTTHTPISDSPIGVSSTSFPTPYTSSSSC
uniprot
proteins
disease_involvement
DISEASE: Zimmermann-Laband syndrome 3 (ZLS3) [MIM:618658]: A form of Zimmermann-Laband syndrome, a rare developmental disorder characterized by facial dysmorphism with bulbous nose and thick floppy ears, gingival enlargement, hypoplasia or aplasia of terminal phalanges and nails, hypertrichosis, joint hyperextensibility, and hepatosplenomegaly. Some patients manifest intellectual disability with or without epilepsy. ZLS3 inheritance is autosomal dominant. {ECO:0000269|PubMed:31155282}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Small conductance calcium-activated potassium channel that mediates the voltage-independent transmembrane transfer of potassium across the cell membrane through a constitutive interaction with calmodulin which binds the intracellular calcium allowing its opening (PubMed:12808432, PubMed:20562108, PubMed:31155282, PubMed:36502918). The current is characterized by a voltage-independent activation, an intracellular calcium concentration increase-dependent activation and a single-channel conductance of 10 picosiemens (PubMed:12808432, PubMed:20562108, PubMed:31155282, PubMed:36502918). Also presents an inwardly rectifying current, thus reducing its already small outward conductance of potassium ions, which is particularly the case when the membrane potential displays positive values, above + 20 mV (PubMed:12808432). Activation is followed by membrane hyperpolarization. Thought to regulate neuronal excitability by contributing to the slow component of synaptic afterhyperpolarization (By similarity). {ECO:0000250|UniProtKB:P70605, ECO:0000269|PubMed:12808432, ECO:0000269|PubMed:20562108, ECO:0000269|PubMed:31155282, ECO:0000269|PubMed:36502918}.; FUNCTION: [Isoform 3]: Does not function as a small conductance calcium-activated potassium channel (Probable). Selectively suppresses endogenous KCNN3 currents, in a dominant-negative fashion by decreasing the abundance of functional channels in the plasma membrane, possibly by selectively coassembling with and sequestering native KCNN3 protein in intracellular compartments (PubMed:12808432). This dominant inhibitory effect extends to other members of the SK subfamily (PubMed:12808432). {ECO:0000269|PubMed:12808432, ECO:0000305|PubMed:12808432}.
uniprot
proteins
mass_dalton
81385
uniprot
proteins
mutagenesis
MUTAGEN 485; /note="H->N: Reduced inhibition by apamin. Does not affect small conductance calcium-activated potassium channel activity."; /evidence="ECO:0000269|PubMed:20562108, ECO:0000269|PubMed:36502918"; MUTAGEN 509..511; /note="GYG->AAA: Impairs small conductance calcium-activated potassium channel activity of KCNN2."; /evidence="ECO:0000269|PubMed:20689065"; MUTAGEN 516; /note="H->N: No effect on inhibition by apamin."; /evidence="ECO:0000269|PubMed:20562108
uniprot
proteins
protein_family
KCa2.3/KCNN3 subfamily
uniprot
proteins
protein_family
Potassium channel KCNN family
uniprot
proteins
pubmed
11501944
uniprot
proteins
pubmed
12808432
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
20562108
uniprot
proteins
pubmed
20689065
uniprot
proteins
pubmed
26658685
uniprot
proteins
pubmed
31155282
uniprot
proteins
pubmed
36502918
uniprot
proteins
pubmed
9491810
uniprot
proteins
sequence_length
731
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12808432, ECO:0000269|PubMed:36502918}; Multi-pass membrane protein {ECO:0000255}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000250|UniProtKB:P58391}.
uniprot
proteins
transmembrane_region
TRANSMEM 288..308; /note="Helical; Name=Segment S1"; /evidence="ECO:0000255"; TRANSMEM 315..335; /note="Helical; Name=Segment S2"; /evidence="ECO:0000255"; TRANSMEM 366..386; /note="Helical; Name=Segment S3"; /evidence="ECO:0000255"; TRANSMEM 405..425; /note="Helical; Name=Segment S4"; /evidence="ECO:0000255"; TRANSMEM 454..474; /note="Helical; Name=Segment S5"; /evidence="ECO:0000255"; TRANSMEM 523..543; /note="Helical; Name=Segment S6"; /evidence="ECO:0000255
uniprot
proteins