KCNMA1
entrez
3778
canonical
uniprot
Q12791
canonical
ensembl
ENSG00000156113
resolver
ensp
ENSP00000286627
resolver
ensp
ENSP00000286628
resolver
ensp
ENSP00000346321
resolver
ensp
ENSP00000361480
resolver
ensp
ENSP00000361498
resolver
ensp
ENSP00000361520
resolver
ensp
ENSP00000385717
resolver
ensp
ENSP00000385806
resolver
ensp
ENSP00000396608
resolver
ensp
ENSP00000473714
resolver
ensp
ENSP00000474686
resolver
ensp
ENSP00000475086
resolver
ensp
ENSP00000482747
resolver
ensp
ENSP00000485867
resolver
ensp
ENSP00000490978
resolver
ensp
ENSP00000490982
resolver
ensp
ENSP00000491008
resolver
ensp
ENSP00000491123
resolver
ensp
ENSP00000491166
resolver
ensp
ENSP00000491300
resolver
ensp
ENSP00000491418
resolver
ensp
ENSP00000491539
resolver
ensp
ENSP00000491555
resolver
ensp
ENSP00000491673
resolver
ensp
ENSP00000491732
resolver
ensp
ENSP00000491840
resolver
ensp
ENSP00000491920
resolver
ensp
ENSP00000491927
resolver
ensp
ENSP00000491981
resolver
ensp
ENSP00000492005
resolver
ensp
ENSP00000492075
resolver
ensp
ENSP00000492236
resolver
ensp
ENSP00000492414
resolver
ensp
ENSP00000492492
resolver
ensp
ENSP00000492510
resolver
ensp
ENSP00000492718
resolver
ensp
ENSP00000492806
resolver
ensp
ENSP00000654446
resolver
enst
ENST00000372443
resolver
enst
ENST00000404771
resolver
enst
ENST00000457953
resolver
enst
ENST00000481070
resolver
enst
ENST00000618048
resolver
enst
ENST00000638203
resolver
enst
ENST00000638223
resolver
enst
ENST00000638306
resolver
enst
ENST00000638606
resolver
enst
ENST00000638848
resolver
enst
ENST00000639090
resolver
enst
ENST00000639406
resolver
enst
ENST00000639486
resolver
enst
ENST00000639489
resolver
enst
ENST00000639544
resolver
enst
ENST00000639601
resolver
enst
ENST00000640141
resolver
enst
ENST00000640182
resolver
enst
ENST00000640807
resolver
enst
ENST00000640834
resolver
genesymbol
KCNMA1
resolver
genesymbol_syn
KCNMA
resolver
genesymbol_syn
SLO
resolver
hgnc
HGNC:6284
resolver
uniprot
A0A087WZL8
resolver
uniprot
A0A1W2PNQ3
resolver
uniprot
A0A1W2PNW6
resolver
uniprot
A0A1W2PP94
resolver
uniprot
A0A1W2PPI9
resolver
uniprot
A0A1W2PPY5
resolver
uniprot
A0A1W2PQ61
resolver
uniprot
A0A1W2PQA0
resolver
uniprot
A0A1W2PQH8
resolver
uniprot
A0A1W2PQK5
resolver
uniprot
A0A1W2PQU4
resolver
uniprot
A0A1W2PR56
resolver
uniprot
A0A1W2PR62
resolver
uniprot
A0A1W2PRB0
resolver
uniprot
A0A1W2PRN5
resolver
uniprot
A0A1W2PSD3
resolver
uniprot
B7ZMF5
resolver
uniprot
D5MRH1
resolver
uniprot
F8WA96
resolver
uniprot
Q12886
resolver
uniprot
Q12917
resolver
uniprot
Q12921
resolver
uniprot
Q12960
resolver
uniprot
Q13150
resolver
uniprot
Q59FH2
resolver
uniprot
Q5JQ23
resolver
uniprot
Q5SQR9
resolver
uniprot
Q5SVJ7
resolver
uniprot
Q5SVJ8
resolver
uniprot
Q5SVJ9
resolver
uniprot
Q96LG8
resolver
uniprot
Q9UBB0
resolver
uniprot
Q9UCX0
resolver
uniprot
Q9UQK6
resolver
uniprot
S4R453
resolver
uniprot_entry
A0A087WZL8_HUMAN
resolver
uniprot_entry
A0A1W2PNQ3_HUMAN
resolver
uniprot_entry
A0A1W2PNW6_HUMAN
resolver
uniprot_entry
A0A1W2PP94_HUMAN
resolver
uniprot_entry
A0A1W2PPI9_HUMAN
resolver
uniprot_entry
A0A1W2PPY5_HUMAN
resolver
uniprot_entry
A0A1W2PQ61_HUMAN
resolver
uniprot_entry
A0A1W2PQA0_HUMAN
resolver
uniprot_entry
A0A1W2PQH8_HUMAN
resolver
uniprot_entry
A0A1W2PQK5_HUMAN
resolver
uniprot_entry
A0A1W2PQU4_HUMAN
resolver
uniprot_entry
A0A1W2PR56_HUMAN
resolver
uniprot_entry
A0A1W2PR62_HUMAN
resolver
uniprot_entry
A0A1W2PRB0_HUMAN
resolver
uniprot_entry
A0A1W2PRN5_HUMAN
resolver
uniprot_entry
A0A1W2PSD3_HUMAN
resolver
uniprot_entry
B7ZMF5_HUMAN
resolver
uniprot_entry
D5MRH1_HUMAN
resolver
uniprot_entry
KCMA1_HUMAN
resolver
uniprot_entry
Q59FH2_HUMAN
resolver
uniprot_entry
Q5SVJ7_HUMAN
resolver
uniprot_entry
Q5SVJ8_HUMAN
resolver
uniprot_entry
Q5SVJ9_HUMAN
resolver
uniprot_entry
S4R453_HUMAN
resolver
uniprot_sec
F8WA96
resolver
uniprot_sec
Q12886
resolver
uniprot_sec
Q12917
resolver
uniprot_sec
Q12921
resolver
uniprot_sec
Q12960
resolver
uniprot_sec
Q13150
resolver
uniprot_sec
Q5JQ23
resolver
uniprot_sec
Q5SQR9
resolver
uniprot_sec
Q96LG8
resolver
uniprot_sec
Q9UBB0
resolver
uniprot_sec
Q9UCX0
resolver
uniprot_sec
Q9UQK6
resolver
activity_regulation
ACTIVITY REGULATION: Ethanol and carbon monoxide-bound heme increase channel activation. Heme inhibits channel activation. {ECO:0000269|PubMed:14523450}.
uniprot
proteins
amino_acid_sequence
MANGGGGGGGSSGGGGGGGGSSLRMSSNIHANHLSLDASSSSSSSSSSSSSSSSSSSSSSVHEPKMDALIIPVTMEVPCDSRGQRMWWAFLASSMVTFFGGLFIILLWRTLKYLWTVCCHCGGKTKEAQKINNGSSQADGTLKPVDEKEEAVAAEVGWMTSVKDWAGVMISAQTLTGRVLVVLVFALSIGALVIYFIDSSNPIESCQNFYKDFTLQIDMAFNVFFLLYFGLRFIAANDKLWFWLEVNSVVDFFTVPPVFVSVYLNRSWLGLRFLRALRLIQFSEILQFLNILKTSNSIKLVNLLSIFISTWLTAAGFIHLVENSGDPWENFQNNQALTYWECVYLLMVTMSTVGYGDVYAKTTLGRLFMVFFILGGLAMFASYVPEIIELIGNRKKYGGSYSAVSGRKHIVVCGHITLESVSNFLKDFLHKDRDDVNVEIVFLHNISPNLELEALFKRHFTQVEFYQGSVLNPHDLARVKIESADACLILANKYCADPDAEDASNIMRVISIKNYHPKIRIITQMLQYHNKAHLLNIPSWNWKEGDDAICLAELKLGFIAQSCLAQGLSTMLANLFSMRSFIKIEEDTWQKYYLEGVSNEMYTEYLSSAFVGLSFPTVCELCFVKLKLLMIAIEYKSANRESRILINPGNHLKIQEGTLGFFIASDAKEVKRAFFYCKACHDDITDPKRIKKCGCKRPKMSIYKRMRRACCFDCGRSERDCSCMSGRVRGNVDTLERAFPLSSVSVNDCSTSFRAFEDEQPSTLSPKKKQRNGGMRNSPNTSPKLMRHDPLLIPGNDQIDNMDSNVKKYDSTGMFHWCAPKEIEKVILTRSEAAMTVLSGHVVVCIFGDVSSALIGLRNLVMPLRASNFHYHELKHIVFVGSIEYLKREWETLHNFPKVSILPGTPLSRADLRAVNINLCDMCVILSANQNNIDDTSLQDKECILASLNIKSMQFDDSIGVLQANSQGFTPPGMDRSSPDNSPVHGMLRQPSITTGVNIPIITELVNDTNVQFLDQDDDDDPDTELYLTQPFACGTAFAVSVLDSLMSATYFNDNILTLIRTLVTGGATPELEALIAEENALRGGYSTPQTLANRDRCRVAQLALLDGPFADLGDGGCYGDLFCKALKTYNMLCFGIYRLRDAHLSTPSQCTKRYVITNPPYEFELVPTDLIFCLMQFDHNAGQSRASLSHSSHSSQSSSKKSSSVHSIPSTANRQNRPKSRESRDKQKYVQEERL
uniprot
proteins
disease_involvement
DISEASE: Paroxysmal non-kinesigenic dyskinesia 3 with or without generalized epilepsy (PNKD3) [MIM:609446]: An autosomal dominant neurologic disorder characterized by absence seizures, generalized tonic-clonic seizures, paroxysmal nonkinesigenic dyskinesia and involuntary dystonic or choreiform movements. Onset is usually in childhood. Patients may have seizures only, dyskinesia only, or both. {ECO:0000269|PubMed:15937479, ECO:0000269|PubMed:26195193}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Epilepsy, idiopathic generalized 16 (EIG16) [MIM:618596]: An autosomal dominant form of idiopathic generalized epilepsy, a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. EIG16 is characterized by onset of seizures soon after birth or in the first years of life. {ECO:0000269|PubMed:29330545}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Cerebellar atrophy, developmental delay, and seizures (CADEDS) [MIM:617643]: An autosomal recessive disease characterized by epilepsy, developmental delay and severe cerebellar atrophy. {ECO:0000269|PubMed:27567911, ECO:0000269|PubMed:29545233}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Liang-Wang syndrome (LIWAS) [MIM:618729]: An autosomal dominant syndrome characterized by a highly variable phenotype and severity. The broad spectrum of clinical features includes developmental delay, intellectual disability, ataxia, axial hypotonia, and poor or absent speech, visceral and cardiac malformations, connective tissue presentations with arterial involvement, bone dysplasia and characteristic craniofacial dysmorphism. About half of patients have cerebral and cerebellar atrophy, and thin corpus callosum. {ECO:0000269|PubMed:31152168}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Potassium channel activated by both membrane depolarization or increase in cytosolic Ca(2+) that mediates export of K(+) (PubMed:14523450, PubMed:29330545, PubMed:31152168). It is also activated by the concentration of cytosolic Mg(2+). Its activation dampens the excitatory events that elevate the cytosolic Ca(2+) concentration and/or depolarize the cell membrane. It therefore contributes to repolarization of the membrane potential. Plays a key role in controlling excitability in a number of systems, such as regulation of the contraction of smooth muscle, the tuning of hair cells in the cochlea, regulation of transmitter release, and innate immunity. In smooth muscles, its activation by high level of Ca(2+), caused by ryanodine receptors in the sarcoplasmic reticulum, regulates the membrane potential. In cochlea cells, its number and kinetic properties partly determine the characteristic frequency of each hair cell and thereby helps to establish a tonotopic map. Kinetics of KCNMA1 channels are determined by alternative splicing, phosphorylation status and its combination with modulating beta subunits. Highly sensitive to both iberiotoxin (IbTx) and charybdotoxin (CTX). Possibly induces sleep when activated by melatonin and through melatonin receptor MTNR1A-dependent dissociation of G-beta and G-gamma subunits, leading to increased sensitivity to Ca(2+) and reduced synaptic transmission (PubMed:32958651). {ECO:0000269|PubMed:14523450, ECO:0000269|PubMed:29330545, ECO:0000269|PubMed:31152168, ECO:0000269|PubMed:32958651}.; FUNCTION: [Isoform 5]: Potassium channel activated by both membrane depolarization or increase in cytosolic Ca(2+) that mediates export of K(+). {ECO:0000269|PubMed:7573516, ECO:0000269|PubMed:7877450}.
uniprot
proteins
mass_dalton
137560
uniprot
proteins
mutagenesis
MUTAGEN 118; /note="C->A: Decreased localization to the plasma membrane. Abolishes localization to the plasma membrane; when associated with A-119 and A-121."; /evidence="ECO:0000269|PubMed:20693285, ECO:0000269|PubMed:22399288"; MUTAGEN 119; /note="C->A: Decreased localization to the plasma membrane. Abolishes localization to the plasma membrane; when associated with A-118 and A-121."; /evidence="ECO:0000269|PubMed:20693285, ECO:0000269|PubMed:22399288"; MUTAGEN 121; /note="C->A: Decreased localization to the plasma membrane. Abolishes localization to the plasma membrane; when associated with A-119 and A-121."; /evidence="ECO:0000269|PubMed:20693285, ECO:0000269|PubMed:22399288"; MUTAGEN 269; /note="L->R,H: No effect in the coupling between calcium and channel opening."; /evidence="ECO:0000269|PubMed:9829973"; MUTAGEN 272; /note="R->E: Induces reduction in the coupling between calcium and channel opening."; /evidence="ECO:0000269|PubMed:9829973"; MUTAGEN 275; /note="R->N: Induces reduction in the coupling between calcium and channel opening."; /evidence="ECO:0000269|PubMed:9829973"; MUTAGEN 278; /note="R->Q: Induces reduction in the coupling between calcium and channel opening."; /evidence="ECO:0000269|PubMed:9829973"; MUTAGEN 281; /note="Q->R: No effect in the coupling between calcium and channel opening."; /evidence="ECO:0000269|PubMed:9829973"; MUTAGEN 284; /note="E->K: No effect in the coupling between calcium and channel opening."; /evidence="ECO:0000269|PubMed:9829973"; MUTAGEN 352; /note="T->S: Activated at more negative voltages. Slower rate of inactivation. Impaired inhibition by HMIMP. No effect on channel inhibition by Iberiotoxin."; /evidence="ECO:0000269|PubMed:20430843"; MUTAGEN 354..356; /note="GYG->AAA: Loss of function."; /evidence="ECO:0000269|PubMed:11604135"; MUTAGEN 380; /note="F->A: Loss of function."; /evidence="ECO:0000269|PubMed:20430843"; MUTAGEN 381; /note="A->S: Activated at more negative voltages. No effect on inhibition by HMIMP."; /evidence="ECO:0000269|PubMed:20430843"; MUTAGEN 384; /note="V->I: No effect on activation voltage. No effect on inhibition by HMIMP."; /evidence="ECO:0000269|PubMed:20430843"; MUTAGEN 680; /note="C->S: Loss of heme-induced channel inhibition."; /evidence="ECO:0000269|PubMed:14523450"; MUTAGEN 681; /note="H->R: Loss of heme-induced channel inhibition."; /evidence="ECO:0000269|PubMed:14523450
uniprot
proteins
post_translational_modification
PTM: Phosphorylated (Probable). Phosphorylation by kinases such as PKA and/or PKG. In smooth muscles, phosphorylation affects its activity. {ECO:0000305}.; PTM: Palmitoylation by ZDHHC22 and ZDHHC23 within the intracellular linker between the S0 and S1 transmembrane domains regulates localization to the plasma membrane. Depalmitoylated by LYPLA1 and LYPLAL1, leading to retard exit from the trans-Golgi network. {ECO:0000269|PubMed:20693285, ECO:0000269|PubMed:22399288}.
uniprot
proteins
protein_family
Calcium-activated (TC 1.A.1.3) subfamily
uniprot
proteins
protein_family
KCa1.1/KCNMA1 sub-subfamily
uniprot
proteins
protein_family
Potassium channel family
uniprot
proteins
pubmed
10097176
uniprot
proteins
pubmed
10692449
uniprot
proteins
pubmed
11604135
uniprot
proteins
pubmed
11880485
uniprot
proteins
pubmed
11880513
uniprot
proteins
pubmed
12434576
uniprot
proteins
pubmed
12566537
uniprot
proteins
pubmed
14523450
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15937479
uniprot
proteins
pubmed
20430843
uniprot
proteins
pubmed
20508092
uniprot
proteins
pubmed
20613726
uniprot
proteins
pubmed
20693285
uniprot
proteins
pubmed
22399288
uniprot
proteins
pubmed
22547800
uniprot
proteins
pubmed
26195193
uniprot
proteins
pubmed
27567911
uniprot
proteins
pubmed
29330545
uniprot
proteins
pubmed
29545233
uniprot
proteins
pubmed
31152168
uniprot
proteins
pubmed
32958651
uniprot
proteins
pubmed
7573516
uniprot
proteins
pubmed
7877450
uniprot
proteins
pubmed
7987297
uniprot
proteins
pubmed
7993625
uniprot
proteins
pubmed
8821792
uniprot
proteins
pubmed
8962157
uniprot
proteins
pubmed
9391153
uniprot
proteins
pubmed
9829973
uniprot
proteins
sequence_length
1236
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:20693285, ECO:0000269|PubMed:22399288}; Multi-pass membrane protein {ECO:0000269|PubMed:20693285, ECO:0000269|PubMed:22399288}.
uniprot
proteins
transmembrane_region
TRANSMEM 87..107; /note="Helical; Name=Segment S0"; /evidence="ECO:0000255"; TRANSMEM 179..199; /note="Helical; Name=Segment S1"; /evidence="ECO:0000255"; TRANSMEM 215..235; /note="Helical; Name=Segment S2"; /evidence="ECO:0000255"; TRANSMEM 240..260; /note="Helical; Name=Segment S3"; /evidence="ECO:0000255"; TRANSMEM 265..285; /note="Helical; Name=Segment S4"; /evidence="ECO:0000255"; TRANSMEM 301..321; /note="Helical; Name=Segment S5"; /evidence="ECO:0000255"; TRANSMEM 368..388; /note="Helical; Name=Segment S6"; /evidence="ECO:0000255
uniprot
proteins