• Gene id: 3778

Gene Summary

• Gene Symbol: KCNMA1   Gene   UCSC   Ensembl
• Aliases: BKTM, CADEDS, IEG16, KCa1.1, LIWAS, MaxiK, PNKD3, SAKCA, SLO, SLO-ALPHA, SLO1, bA205K10.1, hSlo, mSLO1
• Gene name: potassium calcium-activated channel subfamily M alpha 1
• Alternate names: calcium-activated potassium channel subunit alpha-1, uncharacterized protein LOC3778, BK channel alpha subunit, BKCA alpha subunit, big potassium channel alpha subunit, calcium-activated potassium channel, subfamily M subunit alpha-1, k(VCA)alpha, maxi-K channel,
• Gene location: 10q22.3 (77637968: 76869600)     Exons: 46     NC_000010.11
• Gene summary(Entrez): MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit, which

SNPs

rs17262815

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.129478919T>C
NC_000008.10   g.130491165T>C|SEQ=[T/C]|GENE=CCDC26

Protein Summary

• Protein general information: Q12791  
  • Name: Calcium activated potassium channel subunit alpha 1 (BK channel) (BKCA alpha) (Calcium activated potassium channel, subfamily M subunit alpha 1) (K(VCA)alpha) (KCa1.1) (Maxi K channel) (MaxiK) (Slo alpha) (Slo1) (Slowpoke homolog) (Slo homolog) (hSlo)
  • Length: 1236  
  • Mass: 137560
  • Tissue specificity: Widely expressed. Except in myocytes, it is almost ubiquitously expressed. {ECO
• Sequence:

  MANGGGGGGGSSGGGGGGGGSSLRMSSNIHANHLSLDASSSSSSSSSSSSSSSSSSSSSSVHEPKMDALIIPVTM
  EVPCDSRGQRMWWAFLASSMVTFFGGLFIILLWRTLKYLWTVCCHCGGKTKEAQKINNGSSQADGTLKPVDEKEE
  AVAAEVGWMTSVKDWAGVMISAQTLTGRVLVVLVFALSIGALVIYFIDSSNPIESCQNFYKDFTLQIDMAFNVFF
  LLYFGLRFIAANDKLWFWLEVNSVVDFFTVPPVFVSVYLNRSWLGLRFLRALRLIQFSEILQFLNILKTSNSIKL
  VNLLSIFISTWLTAAGFIHLVENSGDPWENFQNNQALTYWECVYLLMVTMSTVGYGDVYAKTTLGRLFMVFFILG
  GLAMFASYVPEIIELIGNRKKYGGSYSAVSGRKHIVVCGHITLESVSNFLKDFLHKDRDDVNVEIVFLHNISPNL
  ELEALFKRHFTQVEFYQGSVLNPHDLARVKIESADACLILANKYCADPDAEDASNIMRVISIKNYHPKIRIITQM
  LQYHNKAHLLNIPSWNWKEGDDAICLAELKLGFIAQSCLAQGLSTMLANLFSMRSFIKIEEDTWQKYYLEGVSNE
  MYTEYLSSAFVGLSFPTVCELCFVKLKLLMIAIEYKSANRESRILINPGNHLKIQEGTLGFFIASDAKEVKRAFF
  YCKACHDDITDPKRIKKCGCKRPKMSIYKRMRRACCFDCGRSERDCSCMSGRVRGNVDTLERAFPLSSVSVNDCS
  TSFRAFEDEQPSTLSPKKKQRNGGMRNSPNTSPKLMRHDPLLIPGNDQIDNMDSNVKKYDSTGMFHWCAPKEIEK
  VILTRSEAAMTVLSGHVVVCIFGDVSSALIGLRNLVMPLRASNFHYHELKHIVFVGSIEYLKREWETLHNFPKVS
  ILPGTPLSRADLRAVNINLCDMCVILSANQNNIDDTSLQDKECILASLNIKSMQFDDSIGVLQANSQGFTPPGMD
  RSSPDNSPVHGMLRQPSITTGVNIPIITELVNDTNVQFLDQDDDDDPDTELYLTQPFACGTAFAVSVLDSLMSAT
  YFNDNILTLIRTLVTGGATPELEALIAEENALRGGYSTPQTLANRDRCRVAQLALLDGPFADLGDGGCYGDLFCK
  ALKTYNMLCFGIYRLRDAHLSTPSQCTKRYVITNPPYEFELVPTDLIFCLMQFDHNAGQSRASLSHSSHSSQSSS
  KKSSSVHSIPSTANRQNRPKSRESRDKQKYVQEERL

• Structural information:
  • Protein Domains: (415..55-)
    (/note="RCK-N-terminal")
  • Interpro: IPR024939  IPR005821  IPR003929  IPR036291  IPR027359  
  • PDB: 2K44 3MT5 3NAF 6V22 6V35 6V38 6V3G
  • PDBsum: 2K44 3MT5 3NAF 6V22 6V35 6V38 6V3G
  • DIP: 29729
  • STRING: ENSP00000286628
• Other Databases: GeneCards:  KCNMA1  Malacards:  KCNMA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060072	large conductance calcium-activated potassium channel activity	IBA	molecular function
GO:0060087	relaxation of vascular smooth muscle	IBA	biological process
GO:0015269	calcium-activated potassium channel activity	IBA	molecular function
GO:0045211	postsynaptic membrane	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005249	voltage-gated potassium channel activity	IMP	molecular function
GO:0060072	large conductance calcium-activated potassium channel activity	IEA	molecular function
GO:0005216	ion channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0006813	potassium ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0005267	potassium channel activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006813	potassium ion transport	IEA	biological process
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003779	actin binding	IDA	molecular function
GO:0060072	large conductance calcium-activated potassium channel activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005901	caveola	IDA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0060083	smooth muscle contraction involved in micturition	IDA	biological process
GO:0060072	large conductance calcium-activated potassium channel activity	IDA	molecular function
GO:0045794	negative regulation of cell volume	IDA	biological process
GO:0001666	response to hypoxia	IDA	biological process
GO:0042391	regulation of membrane potential	IDA	biological process
GO:0034465	response to carbon monoxide	IDA	biological process
GO:0030007	cellular potassium ion homeostasis	IDA	biological process
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0015269	calcium-activated potassium channel activity	IDA	molecular function
GO:0015269	calcium-activated potassium channel activity	IDA	molecular function
GO:0015269	calcium-activated potassium channel activity	IDA	molecular function
GO:0015269	calcium-activated potassium channel activity	IDA	molecular function
GO:0006970	response to osmotic stress	IDA	biological process
GO:0006970	response to osmotic stress	IDA	biological process
GO:0006813	potassium ion transport	IDA	biological process
GO:0006813	potassium ion transport	IDA	biological process
GO:0006813	potassium ion transport	IDA	biological process
GO:0006813	potassium ion transport	IDA	biological process
GO:0006813	potassium ion transport	IDA	biological process
GO:0060073	micturition	IDA	biological process
GO:0051592	response to calcium ion	IDA	biological process
GO:0051592	response to calcium ion	IDA	biological process
GO:0042391	regulation of membrane potential	IDA	biological process
GO:0016021	integral component of membrane	IDA	cellular component
GO:0016021	integral component of membrane	IDA	cellular component
GO:0015269	calcium-activated potassium channel activity	IDA	molecular function
GO:0008076	voltage-gated potassium channel complex	IDA	cellular component
GO:0008076	voltage-gated potassium channel complex	IDA	cellular component
GO:0006813	potassium ion transport	IDA	biological process
GO:0005249	voltage-gated potassium channel activity	IDA	molecular function
GO:0005249	voltage-gated potassium channel activity	IDA	molecular function
GO:0034465	response to carbon monoxide	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043065	positive regulation of apoptotic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04022	cGMP-PKG signaling pathway
hsa04270	Vascular smooth muscle contraction
hsa04972	Pancreatic secretion
hsa04970	Salivary secretion
hsa04911	Insulin secretion
hsa04924	Renin secretion

Diseases

Associated diseases	References
Generalized epilepsy and paroxysmal dyskinesia	KEGG:H01258
Generalized epilepsy and paroxysmal dyskinesia	KEGG:H01258
Alzheimer's disease	PMID:21480501
Cryptorchidism	MIK: 28606200
Hypospadias	MIK: 25108383
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25108383	Hypospadias	rs10762738		1,006 boys who underwent surgery for hypospadias and 5,486 individuals (2,390 males and 3,096 females)	Male infertility	GWAS