UniProt functional annotation for Q8IWT1



	UniProt functional annotation for Q8IWT1

UniProt code: Q8IWT1.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Modulates channel gating kinetics. Causes negative shifts in the voltage dependence of activation of certain alpha sodium channels, but does not affect the voltage dependence of inactivation. Modulates the susceptibility of the sodium channel to inhibition by toxic peptides from spider, scorpion, wasp and sea anemone venom. {ECO:0000269|PubMed:24297919}.

Subunit: The voltage-sensitive sodium channel consists of an ion conducting pore forming alpha-subunit (SCN2A) regulated by one or more beta subunits (SCN1B, SCN2B, SCN3B and SCN4B). SCN1B and SCN3B are non- covalently associated with SCN2A. SCN2B and SCN4B are disulfide-linked to SCN2A (PubMed:24297919). {ECO:0000269|PubMed:24297919}.

Subcellular location: Cell membrane {ECO:0000269|PubMed:24297919}; Single-pass type I membrane protein {ECO:0000269|PubMed:24297919}.

Tissue specificity: Expressed at a high level in dorsal root ganglia, at a lower level in brain, spinal cord, skeletal muscle and heart. Expressed in the atrium. {ECO:0000269|PubMed:12930796, ECO:0000269|PubMed:21051419}.

Ptm: Contains an interchain disulfide bond with SCN2A.

Ptm: N-glycosylated. {ECO:0000269|PubMed:24297919}.

Disease: Long QT syndrome 10 (LQT10) [MIM:611819]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO:0000269|PubMed:17592081}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Atrial fibrillation, familial, 17 (ATFB17) [MIM:611819]: A 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. {ECO:0000269|PubMed:23604097}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the sodium channel auxiliary subunit SCN4B (TC 8.A.17) family. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Modulates channel gating kinetics. Causes negative shifts in the voltage dependence of activation of certain alpha sodium channels, but does not affect the voltage dependence of inactivation. Modulates the susceptibility of the sodium channel to inhibition by toxic peptides from spider, scorpion, wasp and sea anemone venom. {ECO:0000269\|PubMed:24297919}.


Subunit:		The voltage-sensitive sodium channel consists of an ion conducting pore forming alpha-subunit (SCN2A) regulated by one or more beta subunits (SCN1B, SCN2B, SCN3B and SCN4B). SCN1B and SCN3B are non- covalently associated with SCN2A. SCN2B and SCN4B are disulfide-linked to SCN2A (PubMed:24297919). {ECO:0000269\|PubMed:24297919}.
Subcellular location:		Cell membrane {ECO:0000269\|PubMed:24297919}; Single-pass type I membrane protein {ECO:0000269\|PubMed:24297919}.
Tissue specificity:		Expressed at a high level in dorsal root ganglia, at a lower level in brain, spinal cord, skeletal muscle and heart. Expressed in the atrium. {ECO:0000269\|PubMed:12930796, ECO:0000269\|PubMed:21051419}.
Ptm:		Contains an interchain disulfide bond with SCN2A.
Ptm:		N-glycosylated. {ECO:0000269\|PubMed:24297919}.
Disease:		Long QT syndrome 10 (LQT10) [MIM:611819]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO:0000269\|PubMed:17592081}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Atrial fibrillation, familial, 17 (ATFB17) [MIM:611819]: A 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. {ECO:0000269\|PubMed:23604097}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the sodium channel auxiliary subunit SCN4B (TC 8.A.17) family. {ECO:0000305}.