• Gene id: 7881

Gene Summary

• Gene Symbol: KCNAB1   Gene   UCSC   Ensembl
• Aliases: AKR6A3, KCNA1B, KV-BETA-1, Kvb1.3, hKvBeta3, hKvb3
• Gene name: potassium voltage-gated channel subfamily A member regulatory beta subunit 1
• Alternate names: voltage-gated potassium channel subunit beta-1, K(+) channel subunit beta-1, K+ channel Beta1a chain, potassium channel beta 3 chain, potassium channel beta3 subunit, potassium channel shaker chain beta 1a, potassium channel, voltage gated subfamily A regulator,
• Gene location: 3q25.31 (156118215: 156542647)     Exons: 21     NC_000003.12
• Gene summary(Entrez): Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, e
• OMIM: 601141

Protein Summary

• Protein general information: Q14722  
  • Name: Voltage gated potassium channel subunit beta 1 (EC 1.1.1. ) (K(+) channel subunit beta 1) (Kv beta 1)
  • Length: 419  
  • Mass: 46563
  • Tissue specificity: In brain, expression is most prominent in caudate nucleus, hippocampus and thalamus. Significant expression also detected in amygdala and subthalamic nucleus. Also expressed in both healthy and cardiomyopathic heart. Up to four times m
• Sequence:

  MLAARTGAAGSQISEENTKLRRQSGFSVAGKDKSPKKASENAKDSSLSPSGESQLRARQLALLREVEMNWYLKLC
  DLSSEHTTVCTTGMPHRNLGKSGLRVSCLGLGTWVTFGGQISDEVAERLMTIAYESGVNLFDTAEVYAAGKAEVI
  LGSIIKKKGWRRSSLVITTKLYWGGKAETERGLSRKHIIEGLKGSLQRLQLEYVDVVFANRPDSNTPMEEIVRAM
  THVINQGMAMYWGTSRWSAMEIMEAYSVARQFNMIPPVCEQAEYHLFQREKVEVQLPELYHKIGVGAMTWSPLAC
  GIISGKYGNGVPESSRASLKCYQWLKERIVSEEGRKQQNKLKDLSPIAERLGCTLPQLAVAWCLRNEGVSSVLLG
  SSTPEQLIENLGAIQVLPKMTSHVVNEIDNILRNKPYSKKDYRS

• Structural information:
  • Interpro: IPR005983  IPR005399  IPR005400  IPR023210  IPR036812  
  • CDD: cd06660
  • STRING: ENSP00000419952
• Other Databases: GeneCards:  KCNAB1  Malacards:  KCNAB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004033	aldo-keto reductase (NADP) activity	IBA	molecular function
GO:0008076	voltage-gated potassium channel complex	IBA	cellular component
GO:0015459	potassium channel regulator activity	IBA	molecular function
GO:0031234	extrinsic component of cytoplasmic side of plasma membrane	IBA	cellular component
GO:0044224	juxtaparanode region of axon	IBA	cellular component
GO:1901379	regulation of potassium ion transmembrane transport	IBA	biological process
GO:0044325	ion channel binding	IBA	molecular function
GO:0055114	oxidation-reduction process	IBA	biological process
GO:1902260	negative regulation of delayed rectifier potassium channel activity	IBA	biological process
GO:0034705	potassium channel complex	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0015459	potassium channel regulator activity	IDA	molecular function
GO:1901379	regulation of potassium ion transmembrane transport	IDA	biological process
GO:0015459	potassium channel regulator activity	IDA	molecular function
GO:0070402	NADPH binding	IDA	molecular function
GO:0031234	extrinsic component of cytoplasmic side of plasma membrane	IDA	cellular component
GO:1902259	regulation of delayed rectifier potassium channel activity	ISS	biological process
GO:0055114	oxidation-reduction process	ISS	biological process
GO:0004033	aldo-keto reductase (NADP) activity	ISS	molecular function
GO:0005249	voltage-gated potassium channel activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0015459	potassium channel regulator activity	TAS	molecular function
GO:0006813	potassium ion transport	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:1901016	regulation of potassium ion transmembrane transporter activity	IEA	biological process
GO:1990635	proximal dendrite	IEA	cellular component
GO:0044224	juxtaparanode region of axon	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0032839	dendrite cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015459	potassium channel regulator activity	IEA	molecular function
GO:0008076	voltage-gated potassium channel complex	IEA	cellular component
GO:0007519	skeletal muscle tissue development	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0004033	aldo-keto reductase (NADP) activity	IEA	molecular function
GO:0007611	learning or memory	IEA	biological process
GO:1902260	negative regulation of delayed rectifier potassium channel activity	IEA	biological process
GO:1902259	regulation of delayed rectifier potassium channel activity	IEA	biological process
GO:0060539	diaphragm development	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0045445	myoblast differentiation	IEA	biological process
GO:0044325	ion channel binding	IEA	molecular function
GO:0034705	potassium channel complex	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0008076	voltage-gated potassium channel complex	IMP	cellular component
GO:1903817	negative regulation of voltage-gated potassium channel activity	IMP	biological process
GO:0019904	protein domain specific binding	IPI	molecular function

Diseases

Associated diseases	References
Temporal lobe epilepsy	PMID:21333500
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq