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Protein

Sodium channel protein type 4 subunit alpha

Gene

SCN4A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na+ ions may pass in accordance with their electrochemical gradient. This sodium channel may be present in both denervated and innervated skeletal muscle.2 Publications

GO - Molecular functioni

  • voltage-gated sodium channel activity Source: ProtInc

GO - Biological processi

  • membrane depolarization during action potential Source: GO_Central
  • muscle contraction Source: ProtInc
  • neuronal action potential Source: GO_Central
  • sodium ion transport Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Sodium channel, Voltage-gated channel

Keywords - Biological processi

Ion transport, Sodium transport, Transport

Keywords - Ligandi

Sodium

Enzyme and pathway databases

BioCyciZFISH:ENSG00000007314-MONOMER.
ReactomeiR-HSA-445095. Interaction between L1 and Ankyrins.
R-HSA-5576892. Phase 0 - rapid depolarisation.

Protein family/group databases

TCDBi1.A.1.10.4. the voltage-gated ion channel (vic) superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
Sodium channel protein type 4 subunit alpha
Alternative name(s):
SkM1
Sodium channel protein skeletal muscle subunit alpha
Sodium channel protein type IV subunit alpha
Voltage-gated sodium channel subunit alpha Nav1.4
Gene namesi
Name:SCN4A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:10591. SCN4A.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 128CytoplasmicSequence analysisAdd BLAST128
Transmembranei129 – 150Helical; Name=S1 of repeat ISequence analysisAdd BLAST22
Topological domaini151 – 158ExtracellularSequence analysis8
Transmembranei159 – 178Helical; Name=S2 of repeat ISequence analysisAdd BLAST20
Topological domaini179 – 190CytoplasmicSequence analysisAdd BLAST12
Transmembranei191 – 210Helical; Name=S3 of repeat ISequence analysisAdd BLAST20
Topological domaini211 – 216ExtracellularSequence analysis6
Transmembranei217 – 236Helical; Voltage-sensor; Name=S4 of repeat ISequence analysisAdd BLAST20
Topological domaini237 – 252CytoplasmicSequence analysisAdd BLAST16
Transmembranei253 – 266Helical; Name=S5 of repeat ISequence analysisAdd BLAST14
Topological domaini267 – 423ExtracellularSequence analysisAdd BLAST157
Transmembranei424 – 449Helical; Name=S6 of repeat ISequence analysisAdd BLAST26
Topological domaini450 – 573CytoplasmicSequence analysisAdd BLAST124
Transmembranei574 – 597Helical; Name=S1 of repeat IISequence analysisAdd BLAST24
Topological domaini598 – 608ExtracellularSequence analysisAdd BLAST11
Transmembranei609 – 632Helical; Name=S2 of repeat IISequence analysisAdd BLAST24
Topological domaini633 – 640CytoplasmicSequence analysis8
Transmembranei641 – 660Helical; Name=S3 of repeat IISequence analysisAdd BLAST20
Topological domaini661 – 666ExtracellularSequence analysis6
Transmembranei667 – 686Helical; Voltage-sensor; Name=S4 of repeat IISequence analysisAdd BLAST20
Topological domaini687 – 701CytoplasmicSequence analysisAdd BLAST15
Transmembranei702 – 724Helical; Name=S5 of repeat IISequence analysisAdd BLAST23
Topological domaini725 – 776ExtracellularSequence analysisAdd BLAST52
Transmembranei777 – 802Helical; Name=S6 of repeat IISequence analysisAdd BLAST26
Topological domaini803 – 1026CytoplasmicSequence analysisAdd BLAST224
Transmembranei1027 – 1049Helical; Name=S1 of repeat IIISequence analysisAdd BLAST23
Topological domaini1050 – 1063ExtracellularSequence analysisAdd BLAST14
Transmembranei1064 – 1089Helical; Name=S2 of repeat IIISequence analysisAdd BLAST26
Topological domaini1090 – 1095CytoplasmicSequence analysis6
Transmembranei1096 – 1116Helical; Name=S3 of repeat IIISequence analysisAdd BLAST21
Topological domaini1117 – 1121ExtracellularSequence analysis5
Transmembranei1122 – 1143Helical; Voltage-sensor; Name=S4 of repeat IIISequence analysisAdd BLAST22
Topological domaini1144 – 1162CytoplasmicSequence analysisAdd BLAST19
Transmembranei1163 – 1184Helical; Name=S5 of repeat IIISequence analysisAdd BLAST22
Topological domaini1185 – 1268ExtracellularSequence analysisAdd BLAST84
Transmembranei1269 – 1295Helical; Name=S6 of repeat IIISequence analysisAdd BLAST27
Topological domaini1296 – 1348CytoplasmicSequence analysisAdd BLAST53
Transmembranei1349 – 1372Helical; Name=S1 of repeat IVSequence analysisAdd BLAST24
Topological domaini1373 – 1383ExtracellularSequence analysisAdd BLAST11
Transmembranei1384 – 1407Helical; Name=S2 of repeat IVSequence analysisAdd BLAST24
Topological domaini1408 – 1413CytoplasmicSequence analysis6
Transmembranei1414 – 1437Helical; Name=S3 of repeat IVSequence analysisAdd BLAST24
Topological domaini1438 – 1446ExtracellularSequence analysis9
Transmembranei1447 – 1469Helical; Voltage-sensor; Name=S4 of repeat IVSequence analysisAdd BLAST23
Topological domaini1470 – 1484CytoplasmicSequence analysisAdd BLAST15
Transmembranei1485 – 1507Helical; Name=S5 of repeat IVSequence analysisAdd BLAST23
Topological domaini1508 – 1573ExtracellularSequence analysisAdd BLAST66
Transmembranei1574 – 1598Helical; Name=S6 of repeat IVSequence analysisAdd BLAST25
Topological domaini1599 – 1836CytoplasmicSequence analysisAdd BLAST238

GO - Cellular componenti

  • integral component of plasma membrane Source: ProtInc
  • voltage-gated sodium channel complex Source: InterPro
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Paramyotonia congenita of von Eulenburg (PMC)15 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant channelopathy characterized by myotonia, increased by exposure to cold, intermittent flaccid paresis, not necessarily dependent on cold or myotonia, lability of serum potassium, non-progressive nature and lack of atrophy or hypertrophy of muscles. In some patients, myotonia is not increased by cold exposure (paramyotonia without cold paralysis). Patients may have a combination phenotype of PMC and HYPP.
See also OMIM:168300
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_054936270Q → K in PMC. 2 Publications1
Natural variantiVAR_065231693I → T in PMC. 1 PublicationCorresponds to variant rs80338956dbSNPEnsembl.1
Natural variantiVAR_001562704T → M in HYPP and PMC. 3 PublicationsCorresponds to variant rs80338957dbSNPEnsembl.1
Natural variantiVAR_001563804S → F in PMC. 1 PublicationCorresponds to variant rs121908546dbSNPEnsembl.1
Natural variantiVAR_0223411152A → D in PMC. 1 Publication1
Natural variantiVAR_0015651156A → T in PMC, MYOSCN4A and HYPP. 2 PublicationsCorresponds to variant rs80338958dbSNPEnsembl.1
Natural variantiVAR_0015661293V → I in PMC; without cold paralysis. 1 PublicationCorresponds to variant rs121908551dbSNPEnsembl.1
Natural variantiVAR_0015671306G → A in PMC. 2 PublicationsCorresponds to variant rs80338792dbSNPEnsembl.1
Natural variantiVAR_0015681306G → E in MYOSCN4A and PMC; severe. 4 PublicationsCorresponds to variant rs80338792dbSNPEnsembl.1
Natural variantiVAR_0015691306G → V in MYOSCN4A and PMC. 3 PublicationsCorresponds to variant rs80338792dbSNPEnsembl.1
Natural variantiVAR_0015701313T → M in PMC; changes the voltage-gated sodium channel activity; increases membrane hyperexcitability at low temperature; decreases channel activation, deactivation, fast inactivation and recovery delay from fast inactivation. 3 PublicationsCorresponds to variant rs121908547dbSNPEnsembl.1
Natural variantiVAR_0015711433L → R in PMC and HYPP. 1 PublicationCorresponds to variant rs121908550dbSNPEnsembl.1
Natural variantiVAR_0549471436L → P in PMC. 1 Publication1
Natural variantiVAR_0015721448R → C in PMC; changes the voltage-gated sodium channel activity; increases membrane hyperexcitability at low temperature; decreases channel activation, deactivation, fast inactivation and recovery delay from fast inactivation. 3 PublicationsCorresponds to variant rs121908544dbSNPEnsembl.1
Natural variantiVAR_0015731448R → H in PMC. 2 PublicationsCorresponds to variant rs121908545dbSNPEnsembl.1
Natural variantiVAR_0549481448R → L in PMC. 1 Publication1
Natural variantiVAR_0371071456G → E in PMC. 3 PublicationsCorresponds to variant rs121908554dbSNPEnsembl.1
Natural variantiVAR_0549491473F → S in PMC; accelerates deactivation from the inactivated state and enhances the remobilization of gating charge. 2 Publications1
Natural variantiVAR_0015741589V → M in PMC. 2 PublicationsCorresponds to variant rs121908548dbSNPEnsembl.1
Natural variantiVAR_0549521705F → I in PMC; increases the extent of charge immobilization in response to strong depolarization. 1 Publication1
Periodic paralysis hypokalemic 2 (HOKPP2)12 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder manifested by episodic flaccid generalized muscle weakness associated with falls of serum potassium levels.
See also OMIM:613345
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_054935222R → W in HOKPP2. 1 PublicationCorresponds to variant rs527236148dbSNPEnsembl.1
Natural variantiVAR_017788669R → H in HOKPP2. 2 PublicationsCorresponds to variant rs80338784dbSNPEnsembl.1
Natural variantiVAR_054939672R → C in HOKPP2. 2 PublicationsCorresponds to variant rs80338785dbSNPEnsembl.1
Natural variantiVAR_017789672R → G in HOKPP2. 3 PublicationsCorresponds to variant rs80338785dbSNPEnsembl.1
Natural variantiVAR_017790672R → H in HOKPP2. 3 PublicationsCorresponds to variant rs80338788dbSNPEnsembl.1
Natural variantiVAR_017791672R → S in HOKPP2. 3 PublicationsCorresponds to variant rs80338785dbSNPEnsembl.1
Natural variantiVAR_0649871129R → Q in NKPP and HOKPP2; detected in a family where three affected members manifested hypokalemic periodic paralysis whereas five other patients had normokalemic periodic paralysis. 1 PublicationCorresponds to variant rs527236149dbSNPEnsembl.1
Natural variantiVAR_0549431132R → Q in HOKPP2; changes the voltage-gated sodium channel activity; increases membrane hypoexcitability; increases channel activation and both fast and slow channel inactivation. 2 PublicationsCorresponds to variant rs80338789dbSNPEnsembl.1
Natural variantiVAR_0754341135R → C in HOKPP2; also found in patients with severe fetal hypokinesia or congenital myopathy; increased depolarization tendency at normal and reduced extracellular potassium and reduced amplitude and rise time of action potentials. 2 Publications1
Natural variantiVAR_0549441135R → H in HOKPP2; increased depolarization tendency at normal and reduced extracellular potassium and reduced amplitude and rise time of action potentials. 2 PublicationsCorresponds to variant rs527236150dbSNPEnsembl.1
Natural variantiVAR_0177921158P → S in HOKPP2; atypical phenotype with heat-induced myotonia and cold-induced paralysis with hypokalemia; changes the voltage-gated sodium channel activity; increases channel activation and slow inactivation at low temperature. 2 PublicationsCorresponds to variant rs121908555dbSNPEnsembl.1
Periodic paralysis hyperkalemic (HYPP)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant channelopathy characterized by episodic flaccid generalized muscle weakness associated with high levels of serum potassium. Concurrence of myotonia is found in HYPP patients.
See also OMIM:170500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_001562704T → M in HYPP and PMC. 3 PublicationsCorresponds to variant rs80338957dbSNPEnsembl.1
Natural variantiVAR_0015651156A → T in PMC, MYOSCN4A and HYPP. 2 PublicationsCorresponds to variant rs80338958dbSNPEnsembl.1
Natural variantiVAR_0015711433L → R in PMC and HYPP. 1 PublicationCorresponds to variant rs121908550dbSNPEnsembl.1
Natural variantiVAR_0015751592M → V in HYPP and NKPP. 2 PublicationsCorresponds to variant rs80338962dbSNPEnsembl.1
Periodic paralysis normokalemic (NKPP)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder closely related to hyperkalemic periodic paralysis, but marked by a lack of alterations in potassium levels during attacks of muscle weakness.
See also OMIM:170500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_037104675R → G in NKPP. 1 PublicationCorresponds to variant rs121908556dbSNPEnsembl.1
Natural variantiVAR_037105675R → Q in NKPP. 2 PublicationsCorresponds to variant rs121908557dbSNPEnsembl.1
Natural variantiVAR_037106675R → W in NKPP. 1 PublicationCorresponds to variant rs121908556dbSNPEnsembl.1
Natural variantiVAR_0649871129R → Q in NKPP and HOKPP2; detected in a family where three affected members manifested hypokalemic periodic paralysis whereas five other patients had normokalemic periodic paralysis. 1 PublicationCorresponds to variant rs527236149dbSNPEnsembl.1
Natural variantiVAR_0015751592M → V in HYPP and NKPP. 2 PublicationsCorresponds to variant rs80338962dbSNPEnsembl.1
Myotonia SCN4A-related (MYOSCN4A)12 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA phenotypically highly variable myotonia aggravated by potassium loading, and sometimes by cold. Myotonia is characterized by sustained muscle tensing that prevents muscles from relaxing normally. It causes muscle stiffness that can interfere with movement. In some people the stiffness is very mild, while in other cases it may be severe enough to interfere with walking, running, and other activities of daily life. Myotonia SCN4A-related includes myotonia permanens and myotonia fluctuans. In myotonia permanens, the myotonia is generalized and there is a hypertrophy of the muscle, particularly in the neck and the shoulder. Attacks of severe muscle stiffness of the thoracic muscles may be life threatening due to impaired ventilation. In myotonia fluctuans, the muscle stiffness may fluctuate from day to day, provoked by exercise.
See also OMIM:608390
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_054934141I → V in MYOSCN4A; causes a hyperpolarizing shift of the activation curve; enhances channel slow inactivation. 1 PublicationCorresponds to variant rs121908561dbSNPEnsembl.1
Natural variantiVAR_065230225R → W in MYOSCN4A; also found in patients with severe fetal hypokinesia or congenital myopathy; impaired sodium channel function. 2 PublicationsCorresponds to variant rs764718003dbSNPEnsembl.1
Natural variantiVAR_017786445V → M in MYOSCN4A. 3 PublicationsCorresponds to variant rs121908552dbSNPEnsembl.1
Natural variantiVAR_054937452E → K in MYOSCN4A; variable phenotype ranging from mild to severe myotonia. 1 PublicationCorresponds to variant rs372631097dbSNPEnsembl.1
Natural variantiVAR_054938671F → S in MYOSCN4A. 1 Publication1
Natural variantiVAR_054940715A → T in MYOSCN4A. 1 PublicationCorresponds to variant rs749400108dbSNPEnsembl.1
Natural variantiVAR_054942804S → N in MYOSCN4A. 1 Publication1
Natural variantiVAR_0015651156A → T in PMC, MYOSCN4A and HYPP. 2 PublicationsCorresponds to variant rs80338958dbSNPEnsembl.1
Natural variantiVAR_0177931160I → V in MYOSCN4A; acetazolamide-responsive myotonia. 1 PublicationCorresponds to variant rs121908549dbSNPEnsembl.1
Natural variantiVAR_0549451297N → K in MYOSCN4A; unusually severe and lethal phenotype with neonatal onset. 1 PublicationCorresponds to variant rs121908560dbSNPEnsembl.1
Natural variantiVAR_0015681306G → E in MYOSCN4A and PMC; severe. 4 PublicationsCorresponds to variant rs80338792dbSNPEnsembl.1
Natural variantiVAR_0015691306G → V in MYOSCN4A and PMC. 3 PublicationsCorresponds to variant rs80338792dbSNPEnsembl.1
Natural variantiVAR_0549461310I → N in MYOSCN4A. 1 Publication1
Natural variantiVAR_0549501476M → I in MYOSCN4A; highly variable severity. 2 PublicationsCorresponds to variant rs121908559dbSNPEnsembl.1
Natural variantiVAR_0549511481A → D in MYOSCN4A; fluctuating cold-induced and exercise-induced stiffness. 1 Publication1
Natural variantiVAR_0745811633Q → E in MYOSCN4A; changes the voltage-gated sodium channel activity; increases membrane hyperexcitability; decreases channel fast inactivation. 1 Publication1
Myasthenic syndrome, congenital, 16 (CMS16)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS16 is characterized by fatigable generalized weakness and recurrent attacks of respiratory and bulbar paralysis since birth. The fatigable weakness involves lid-elevator, external ocular, facial, limb and truncal muscles and an decremental response of the compound muscle action potential on repetitive stimulation.
See also OMIM:614198
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0177951442V → E in CMS16. 1 PublicationCorresponds to variant rs121908553dbSNPEnsembl.1
Natural variantiVAR_0754361454R → W in CMS16; leads to hyperpolarization of the steady-state fast inactivation, slow recovery from inactivation and reduces the channel ability to activate in response to repetitive stimulating pulses. 1 Publication1
Natural variantiVAR_0754371457R → H in CMS16; enhanced fast inactivation and slowed recovery from fast inactivation. 1 Publication1

SCN4A mutations are the cause of an autosomal recessive neuromuscular disorder characterized by severe fetal hypokinesia, neonatal hypotonia and congenital myopathy of variable severity. The most severe clinical features include reduced or absent fetal movements, in-utero upper and lower limb contractures, talipes and hydrops, and intrauterine or early postnatal death. Mildly affected patients present with generalized hypotonia and weakness at birth or within the first few days of life, mild-to-moderate facial muscle weakness without ptosis, significant early respiratory and feeding difficulties, and skeletal abnormalities of the spine and palate. Symptoms improve over time in patients who survive infancy, resulting in gain of muscle strength and motor skills and concomitant resolution of early respiratory and feeding difficulties. In contrast to other SCN4A-related channelopathies, affected individuals manifest in-utero or neonatal onset of permanent muscle weakness, rather than later-onset episodic muscle weakness.

Keywords - Diseasei

Congenital myasthenic syndrome, Disease mutation

Organism-specific databases

DisGeNETi6329.
MalaCardsiSCN4A.
MIMi168300. phenotype.
170500. phenotype.
608390. phenotype.
613345. phenotype.
614198. phenotype.
OpenTargetsiENSG00000007314.
Orphaneti99736. Acetazolamide-responsive myotonia.
682. Hyperkalemic periodic paralysis.
681. Hypokalemic periodic paralysis.
99734. Myotonia fluctuans.
99735. Myotonia permanens.
684. Paramyotonia congenita of Von Eulenburg.
98913. Postsynaptic congenital myasthenic syndromes.
PharmGKBiPA35006.

Chemistry databases

ChEMBLiCHEMBL2072.
DrugBankiDB00586. Diclofenac.
DB01195. Flecainide.
DB00818. Propofol.
DB00313. Valproic Acid.
DB00909. Zonisamide.
GuidetoPHARMACOLOGYi581.

Polymorphism and mutation databases

BioMutaiSCN4A.
DMDMi292495096.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000484951 – 1836Sodium channel protein type 4 subunit alphaAdd BLAST1836

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi214N-linked (GlcNAc...)Sequence analysis1
Glycosylationi288N-linked (GlcNAc...)Sequence analysis1
Glycosylationi291N-linked (GlcNAc...)Sequence analysis1
Glycosylationi297N-linked (GlcNAc...)Sequence analysis1
Glycosylationi303N-linked (GlcNAc...)Sequence analysis1
Glycosylationi315N-linked (GlcNAc...)Sequence analysis1
Glycosylationi321N-linked (GlcNAc...)Sequence analysis1
Glycosylationi333N-linked (GlcNAc...)Sequence analysis1
Glycosylationi362N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1191N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1205N-linked (GlcNAc...)Sequence analysis1
Modified residuei1328Phosphoserine; by PKCBy similarity1

Post-translational modificationi

Phosphorylation at Ser-1328 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents.By similarity

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiP35499.
PeptideAtlasiP35499.
PRIDEiP35499.

PTM databases

iPTMnetiP35499.
PhosphoSitePlusiP35499.

Expressioni

Gene expression databases

BgeeiENSG00000007314.
CleanExiHS_SCN4A.
ExpressionAtlasiP35499. baseline and differential.
GenevisibleiP35499. HS.

Organism-specific databases

HPAiHPA053992.

Interactioni

Subunit structurei

Muscle sodium channels contain an alpha subunit and a smaller beta subunit. Interacts with the PDZ domain of the syntrophin SNTA1, SNTB1 and SNTB2 (By similarity).By similarity

Protein-protein interaction databases

BioGridi112234. 4 interactors.
STRINGi9606.ENSP00000396320.

Chemistry databases

BindingDBiP35499.

Structurei

3D structure databases

ProteinModelPortaliP35499.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati113 – 454ICuratedAdd BLAST342
Repeati560 – 832IICuratedAdd BLAST273
Repeati1013 – 1326IIICuratedAdd BLAST314
Repeati1335 – 1633IVCuratedAdd BLAST299
Domaini1727 – 1756IQPROSITE-ProRule annotationAdd BLAST30

Domaini

The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1,S2,S3,S5,S6) and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position.

Sequence similaritiesi

Contains 1 IQ domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410INF8. Eukaryota.
COG1226. LUCA.
GeneTreeiENSGT00830000128242.
HOGENOMiHOG000231755.
HOVERGENiHBG053100.
InParanoidiP35499.
KOiK04837.
OrthoDBiEOG091G00FK.
PhylomeDBiP35499.
TreeFamiTF323985.

Family and domain databases

Gene3Di1.20.120.350. 4 hits.
InterProiIPR027359. Channel_four-helix_dom.
IPR005821. Ion_trans_dom.
IPR000048. IQ_motif_EF-hand-BS.
IPR028826. Na_channel_a4su.
IPR008052. Na_channel_a4su_mammal.
IPR001696. Na_channel_asu.
IPR010526. Na_trans_assoc.
[Graphical view]
PANTHERiPTHR10037:SF223. PTHR10037:SF223. 2 hits.
PfamiPF00520. Ion_trans. 4 hits.
PF06512. Na_trans_assoc. 1 hit.
[Graphical view]
PRINTSiPR00170. NACHANNEL.
PR01665. NACHANNEL4.
PROSITEiPS50096. IQ. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P35499-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MARPSLCTLV PLGPECLRPF TRESLAAIEQ RAVEEEARLQ RNKQMEIEEP
60 70 80 90 100
ERKPRSDLEA GKNLPMIYGD PPPEVIGIPL EDLDPYYSNK KTFIVLNKGK
110 120 130 140 150
AIFRFSATPA LYLLSPFSVV RRGAIKVLIH ALFSMFIMIT ILTNCVFMTM
160 170 180 190 200
SDPPPWSKNV EYTFTGIYTF ESLIKILARG FCVDDFTFLR DPWNWLDFSV
210 220 230 240 250
IMMAYLTEFV DLGNISALRT FRVLRALKTI TVIPGLKTIV GALIQSVKKL
260 270 280 290 300
SDVMILTVFC LSVFALVGLQ LFMGNLRQKC VRWPPPFNDT NTTWYSNDTW
310 320 330 340 350
YGNDTWYGNE MWYGNDSWYA NDTWNSHASW ATNDTFDWDA YISDEGNFYF
360 370 380 390 400
LEGSNDALLC GNSSDAGHCP EGYECIKTGR NPNYGYTSYD TFSWAFLALF
410 420 430 440 450
RLMTQDYWEN LFQLTLRAAG KTYMIFFVVI IFLGSFYLIN LILAVVAMAY
460 470 480 490 500
AEQNEATLAE DKEKEEEFQQ MLEKFKKHQE ELEKAKAAQA LEGGEADGDP
510 520 530 540 550
AHGKDCNGSL DTSQGEKGAP RQSSSGDSGI SDAMEELEEA HQKCPPWWYK
560 570 580 590 600
CAHKVLIWNC CAPWLKFKNI IHLIVMDPFV DLGITICIVL NTLFMAMEHY
610 620 630 640 650
PMTEHFDNVL TVGNLVFTGI FTAEMVLKLI AMDPYEYFQQ GWNIFDSIIV
660 670 680 690 700
TLSLVELGLA NVQGLSVLRS FRLLRVFKLA KSWPTLNMLI KIIGNSVGAL
710 720 730 740 750
GNLTLVLAII VFIFAVVGMQ LFGKSYKECV CKIALDCNLP RWHMHDFFHS
760 770 780 790 800
FLIVFRILCG EWIETMWDCM EVAGQAMCLT VFLMVMVIGN LVVLNLFLAL
810 820 830 840 850
LLSSFSADSL AASDEDGEMN NLQIAIGRIK LGIGFAKAFL LGLLHGKILS
860 870 880 890 900
PKDIMLSLGE ADGAGEAGEA GETAPEDEKK EPPEEDLKKD NHILNHMGLA
910 920 930 940 950
DGPPSSLELD HLNFINNPYL TIQVPIASEE SDLEMPTEEE TDTFSEPEDS
960 970 980 990 1000
KKPPQPLYDG NSSVCSTADY KPPEEDPEEQ AEENPEGEQP EECFTEACVQ
1010 1020 1030 1040 1050
RWPCLYVDIS QGRGKKWWTL RRACFKIVEH NWFETFIVFM ILLSSGALAF
1060 1070 1080 1090 1100
EDIYIEQRRV IRTILEYADK VFTYIFIMEM LLKWVAYGFK VYFTNAWCWL
1110 1120 1130 1140 1150
DFLIVDVSII SLVANWLGYS ELGPIKSLRT LRALRPLRAL SRFEGMRVVV
1160 1170 1180 1190 1200
NALLGAIPSI MNVLLVCLIF WLIFSIMGVN LFAGKFYYCI NTTTSERFDI
1210 1220 1230 1240 1250
SEVNNKSECE SLMHTGQVRW LNVKVNYDNV GLGYLSLLQV ATFKGWMDIM
1260 1270 1280 1290 1300
YAAVDSREKE EQPQYEVNLY MYLYFVIFII FGSFFTLNLF IGVIIDNFNQ
1310 1320 1330 1340 1350
QKKKLGGKDI FMTEEQKKYY NAMKKLGSKK PQKPIPRPQN KIQGMVYDLV
1360 1370 1380 1390 1400
TKQAFDITIM ILICLNMVTM MVETDNQSQL KVDILYNINM IFIIIFTGEC
1410 1420 1430 1440 1450
VLKMLALRQY YFTVGWNIFD FVVVILSIVG LALSDLIQKY FVSPTLFRVI
1460 1470 1480 1490 1500
RLARIGRVLR LIRGAKGIRT LLFALMMSLP ALFNIGLLLF LVMFIYSIFG
1510 1520 1530 1540 1550
MSNFAYVKKE SGIDDMFNFE TFGNSIICLF EITTSAGWDG LLNPILNSGP
1560 1570 1580 1590 1600
PDCDPNLENP GTSVKGDCGN PSIGICFFCS YIIISFLIVV NMYIAIILEN
1610 1620 1630 1640 1650
FNVATEESSE PLGEDDFEMF YETWEKFDPD ATQFIAYSRL SDFVDTLQEP
1660 1670 1680 1690 1700
LRIAKPNKIK LITLDLPMVP GDKIHCLDIL FALTKEVLGD SGEMDALKQT
1710 1720 1730 1740 1750
MEEKFMAANP SKVSYEPITT TLKRKHEEVC AIKIQRAYRR HLLQRSMKQA
1760 1770 1780 1790 1800
SYMYRHSHDG SGDDAPEKEG LLANTMSKMY GHENGNSSSP SPEEKGEAGD
1810 1820 1830
AGPTMGLMPI SPSDTAWPPA PPPGQTVRPG VKESLV
Length:1,836
Mass (Da):208,061
Last modified:March 23, 2010 - v4
Checksum:iFA9A6B81B7C2D50F
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti10 – 11VP → AR in AAA60554 (PubMed:1315496).Curated2
Sequence conflicti371E → K in AAA60554 (PubMed:1315496).Curated1
Sequence conflicti371E → Q in AAB59624 (PubMed:1315496).Curated1
Sequence conflicti870A → G in AAB59624 (PubMed:1315496).Curated1
Sequence conflicti1151 – 1152NA → KP in AAB59624 (PubMed:1315496).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07459872P → L Found in a patient with severe dystrophia myotonica 2 (DM2) carrying a pathogenic CCTG repeat expansion in CNBP; unknown pathological significance; may act as a disease modifier; changes the voltage-gated sodium channel activity; increases membrane hyperexcitability; decreases channel fast inactivation. 1 Publication1
Natural variantiVAR_075430104R → H Probable disease-associated mutation found in patients with severe fetal hypokinesia or congenital myopathy; complete loss of sodium channel function. 1 Publication1
Natural variantiVAR_001560135M → V.1
Natural variantiVAR_054934141I → V in MYOSCN4A; causes a hyperpolarizing shift of the activation curve; enhances channel slow inactivation. 1 PublicationCorresponds to variant rs121908561dbSNPEnsembl.1
Natural variantiVAR_075431203M → K Probable disease-associated mutation found in patients with severe fetal hypokinesia or congenital myopathy; impaired sodium channel function. 1 Publication1
Natural variantiVAR_054935222R → W in HOKPP2. 1 PublicationCorresponds to variant rs527236148dbSNPEnsembl.1
Natural variantiVAR_065230225R → W in MYOSCN4A; also found in patients with severe fetal hypokinesia or congenital myopathy; impaired sodium channel function. 2 PublicationsCorresponds to variant rs764718003dbSNPEnsembl.1
Natural variantiVAR_017785246S → L.1 PublicationCorresponds to variant rs80338951dbSNPEnsembl.1
Natural variantiVAR_054936270Q → K in PMC. 2 Publications1
Natural variantiVAR_075432382P → T Probable disease-associated mutation found in patients with severe fetal hypokinesia or congenital myopathy; complete loss of sodium channel function. 1 Publication1
Natural variantiVAR_017786445V → M in MYOSCN4A. 3 PublicationsCorresponds to variant rs121908552dbSNPEnsembl.1
Natural variantiVAR_054937452E → K in MYOSCN4A; variable phenotype ranging from mild to severe myotonia. 1 PublicationCorresponds to variant rs372631097dbSNPEnsembl.1
Natural variantiVAR_001561524S → G.3 PublicationsCorresponds to variant rs6504191dbSNPEnsembl.1
Natural variantiVAR_017787559N → D.2 PublicationsCorresponds to variant rs1047705dbSNPEnsembl.1
Natural variantiVAR_017788669R → H in HOKPP2. 2 PublicationsCorresponds to variant rs80338784dbSNPEnsembl.1
Natural variantiVAR_054938671F → S in MYOSCN4A. 1 Publication1
Natural variantiVAR_054939672R → C in HOKPP2. 2 PublicationsCorresponds to variant rs80338785dbSNPEnsembl.1
Natural variantiVAR_017789672R → G in HOKPP2. 3 PublicationsCorresponds to variant rs80338785dbSNPEnsembl.1
Natural variantiVAR_017790672R → H in HOKPP2. 3 PublicationsCorresponds to variant rs80338788dbSNPEnsembl.1
Natural variantiVAR_017791672R → S in HOKPP2. 3 PublicationsCorresponds to variant rs80338785dbSNPEnsembl.1
Natural variantiVAR_037104675R → G in NKPP. 1 PublicationCorresponds to variant rs121908556dbSNPEnsembl.1
Natural variantiVAR_037105675R → Q in NKPP. 2 PublicationsCorresponds to variant rs121908557dbSNPEnsembl.1
Natural variantiVAR_037106675R → W in NKPP. 1 PublicationCorresponds to variant rs121908556dbSNPEnsembl.1
Natural variantiVAR_065231693I → T in PMC. 1 PublicationCorresponds to variant rs80338956dbSNPEnsembl.1
Natural variantiVAR_001562704T → M in HYPP and PMC. 3 PublicationsCorresponds to variant rs80338957dbSNPEnsembl.1
Natural variantiVAR_054940715A → T in MYOSCN4A. 1 PublicationCorresponds to variant rs749400108dbSNPEnsembl.1
Natural variantiVAR_054941781V → I Polymorphism; voltage-gated sodium channel activity is not affected and channel activation as well as fast and slow inactivation curves are normal. 4 PublicationsCorresponds to variant rs62070884dbSNPEnsembl.1
Natural variantiVAR_001563804S → F in PMC. 1 PublicationCorresponds to variant rs121908546dbSNPEnsembl.1
Natural variantiVAR_054942804S → N in MYOSCN4A. 1 Publication1
Natural variantiVAR_001564861A → D.1
Natural variantiVAR_0754331069D → N Probable disease-associated mutation found in patients with severe fetal hypokinesia or congenital myopathy; impaired sodium channel function. 1 PublicationCorresponds to variant rs373150395dbSNPEnsembl.1
Natural variantiVAR_0649871129R → Q in NKPP and HOKPP2; detected in a family where three affected members manifested hypokalemic periodic paralysis whereas five other patients had normokalemic periodic paralysis. 1 PublicationCorresponds to variant rs527236149dbSNPEnsembl.1
Natural variantiVAR_0549431132R → Q in HOKPP2; changes the voltage-gated sodium channel activity; increases membrane hypoexcitability; increases channel activation and both fast and slow channel inactivation. 2 PublicationsCorresponds to variant rs80338789dbSNPEnsembl.1
Natural variantiVAR_0754341135R → C in HOKPP2; also found in patients with severe fetal hypokinesia or congenital myopathy; increased depolarization tendency at normal and reduced extracellular potassium and reduced amplitude and rise time of action potentials. 2 Publications1
Natural variantiVAR_0549441135R → H in HOKPP2; increased depolarization tendency at normal and reduced extracellular potassium and reduced amplitude and rise time of action potentials. 2 PublicationsCorresponds to variant rs527236150dbSNPEnsembl.1
Natural variantiVAR_0223411152A → D in PMC. 1 Publication1
Natural variantiVAR_0015651156A → T in PMC, MYOSCN4A and HYPP. 2 PublicationsCorresponds to variant rs80338958dbSNPEnsembl.1
Natural variantiVAR_0177921158P → S in HOKPP2; atypical phenotype with heat-induced myotonia and cold-induced paralysis with hypokalemia; changes the voltage-gated sodium channel activity; increases channel activation and slow inactivation at low temperature. 2 PublicationsCorresponds to variant rs121908555dbSNPEnsembl.1
Natural variantiVAR_0177931160I → V in MYOSCN4A; acetazolamide-responsive myotonia. 1 PublicationCorresponds to variant rs121908549dbSNPEnsembl.1
Natural variantiVAR_0754351209C → F Probable disease-associated mutation found in patients with severe fetal hypokinesia or congenital myopathy; complete loss of sodium channel function. 1 Publication1
Natural variantiVAR_0015661293V → I in PMC; without cold paralysis. 1 PublicationCorresponds to variant rs121908551dbSNPEnsembl.1
Natural variantiVAR_0549451297N → K in MYOSCN4A; unusually severe and lethal phenotype with neonatal onset. 1 PublicationCorresponds to variant rs121908560dbSNPEnsembl.1
Natural variantiVAR_0015671306G → A in PMC. 2 PublicationsCorresponds to variant rs80338792dbSNPEnsembl.1
Natural variantiVAR_0015681306G → E in MYOSCN4A and PMC; severe. 4 PublicationsCorresponds to variant rs80338792dbSNPEnsembl.1
Natural variantiVAR_0015691306G → V in MYOSCN4A and PMC. 3 PublicationsCorresponds to variant rs80338792dbSNPEnsembl.1
Natural variantiVAR_0549461310I → N in MYOSCN4A. 1 Publication1
Natural variantiVAR_0015701313T → M in PMC; changes the voltage-gated sodium channel activity; increases membrane hyperexcitability at low temperature; decreases channel activation, deactivation, fast inactivation and recovery delay from fast inactivation. 3 PublicationsCorresponds to variant rs121908547dbSNPEnsembl.1
Natural variantiVAR_0177941376N → D.1 PublicationCorresponds to variant rs2058194dbSNPEnsembl.1
Natural variantiVAR_0015711433L → R in PMC and HYPP. 1 PublicationCorresponds to variant rs121908550dbSNPEnsembl.1
Natural variantiVAR_0549471436L → P in PMC. 1 Publication1
Natural variantiVAR_0177951442V → E in CMS16. 1 PublicationCorresponds to variant rs121908553dbSNPEnsembl.1
Natural variantiVAR_0015721448R → C in PMC; changes the voltage-gated sodium channel activity; increases membrane hyperexcitability at low temperature; decreases channel activation, deactivation, fast inactivation and recovery delay from fast inactivation. 3 PublicationsCorresponds to variant rs121908544dbSNPEnsembl.1
Natural variantiVAR_0015731448R → H in PMC. 2 PublicationsCorresponds to variant rs121908545dbSNPEnsembl.1
Natural variantiVAR_0549481448R → L in PMC. 1 Publication1
Natural variantiVAR_0754361454R → W in CMS16; leads to hyperpolarization of the steady-state fast inactivation, slow recovery from inactivation and reduces the channel ability to activate in response to repetitive stimulating pulses. 1 Publication1
Natural variantiVAR_0371071456G → E in PMC. 3 PublicationsCorresponds to variant rs121908554dbSNPEnsembl.1
Natural variantiVAR_0754371457R → H in CMS16; enhanced fast inactivation and slowed recovery from fast inactivation. 1 Publication1
Natural variantiVAR_0549491473F → S in PMC; accelerates deactivation from the inactivated state and enhances the remobilization of gating charge. 2 Publications1
Natural variantiVAR_0549501476M → I in MYOSCN4A; highly variable severity. 2 PublicationsCorresponds to variant rs121908559dbSNPEnsembl.1
Natural variantiVAR_0549511481A → D in MYOSCN4A; fluctuating cold-induced and exercise-induced stiffness. 1 Publication1
Natural variantiVAR_0015741589V → M in PMC. 2 PublicationsCorresponds to variant rs121908548dbSNPEnsembl.1
Natural variantiVAR_0015751592M → V in HYPP and NKPP. 2 PublicationsCorresponds to variant rs80338962dbSNPEnsembl.1
Natural variantiVAR_0745811633Q → E in MYOSCN4A; changes the voltage-gated sodium channel activity; increases membrane hyperexcitability; decreases channel fast inactivation. 1 Publication1
Natural variantiVAR_0549521705F → I in PMC; increases the extent of charge immobilization in response to strong depolarization. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M81758 mRNA. Translation: AAA60554.1.
L04236
, L04216, L04217, L04218, L04219, L04220, L04221, L04222, L04223, L04224, L04225, L04226, L04227, L04228, L04229, L04230, L04231, L04232, L04233, L04234, L04235 Genomic DNA. Translation: AAB59624.1.
AY212253 mRNA. Translation: AAO83647.1.
L01983
, L01962, L01963, L01964, L01965, L01966, L01967, L01968, L01969, L01970, L01971, L01972, L01973, L01974, L01975, L01976, L01977, L01978, L01979, L01980, L01981, L01982 Genomic DNA. Translation: AAA75557.1. Sequence problems.
AC127029 Genomic DNA. No translation available.
S82622 Genomic DNA. Translation: AAB21450.2.
CCDSiCCDS45761.1.
PIRiI51964.
I54323.
I64893.
JS0648.
RefSeqiNP_000325.4. NM_000334.4.
UniGeneiHs.46038.

Genome annotation databases

EnsembliENST00000435607; ENSP00000396320; ENSG00000007314.
GeneIDi6329.
KEGGihsa:6329.
UCSCiuc002jds.1. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Wikipedia

SCN4A entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M81758 mRNA. Translation: AAA60554.1.
L04236
, L04216, L04217, L04218, L04219, L04220, L04221, L04222, L04223, L04224, L04225, L04226, L04227, L04228, L04229, L04230, L04231, L04232, L04233, L04234, L04235 Genomic DNA. Translation: AAB59624.1.
AY212253 mRNA. Translation: AAO83647.1.
L01983
, L01962, L01963, L01964, L01965, L01966, L01967, L01968, L01969, L01970, L01971, L01972, L01973, L01974, L01975, L01976, L01977, L01978, L01979, L01980, L01981, L01982 Genomic DNA. Translation: AAA75557.1. Sequence problems.
AC127029 Genomic DNA. No translation available.
S82622 Genomic DNA. Translation: AAB21450.2.
CCDSiCCDS45761.1.
PIRiI51964.
I54323.
I64893.
JS0648.
RefSeqiNP_000325.4. NM_000334.4.
UniGeneiHs.46038.

3D structure databases

ProteinModelPortaliP35499.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112234. 4 interactors.
STRINGi9606.ENSP00000396320.

Chemistry databases

BindingDBiP35499.
ChEMBLiCHEMBL2072.
DrugBankiDB00586. Diclofenac.
DB01195. Flecainide.
DB00818. Propofol.
DB00313. Valproic Acid.
DB00909. Zonisamide.
GuidetoPHARMACOLOGYi581.

Protein family/group databases

TCDBi1.A.1.10.4. the voltage-gated ion channel (vic) superfamily.

PTM databases

iPTMnetiP35499.
PhosphoSitePlusiP35499.

Polymorphism and mutation databases

BioMutaiSCN4A.
DMDMi292495096.

Proteomic databases

PaxDbiP35499.
PeptideAtlasiP35499.
PRIDEiP35499.

Protocols and materials databases

DNASUi6329.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000435607; ENSP00000396320; ENSG00000007314.
GeneIDi6329.
KEGGihsa:6329.
UCSCiuc002jds.1. human.

Organism-specific databases

CTDi6329.
DisGeNETi6329.
GeneCardsiSCN4A.
GeneReviewsiSCN4A.
H-InvDBHIX0039131.
HGNCiHGNC:10591. SCN4A.
HPAiHPA053992.
MalaCardsiSCN4A.
MIMi168300. phenotype.
170500. phenotype.
603967. gene.
608390. phenotype.
613345. phenotype.
614198. phenotype.
neXtProtiNX_P35499.
OpenTargetsiENSG00000007314.
Orphaneti99736. Acetazolamide-responsive myotonia.
682. Hyperkalemic periodic paralysis.
681. Hypokalemic periodic paralysis.
99734. Myotonia fluctuans.
99735. Myotonia permanens.
684. Paramyotonia congenita of Von Eulenburg.
98913. Postsynaptic congenital myasthenic syndromes.
PharmGKBiPA35006.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410INF8. Eukaryota.
COG1226. LUCA.
GeneTreeiENSGT00830000128242.
HOGENOMiHOG000231755.
HOVERGENiHBG053100.
InParanoidiP35499.
KOiK04837.
OrthoDBiEOG091G00FK.
PhylomeDBiP35499.
TreeFamiTF323985.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000007314-MONOMER.
ReactomeiR-HSA-445095. Interaction between L1 and Ankyrins.
R-HSA-5576892. Phase 0 - rapid depolarisation.

Miscellaneous databases

ChiTaRSiSCN4A. human.
GeneWikiiNav1.4.
GenomeRNAii6329.
PROiP35499.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000007314.
CleanExiHS_SCN4A.
ExpressionAtlasiP35499. baseline and differential.
GenevisibleiP35499. HS.

Family and domain databases

Gene3Di1.20.120.350. 4 hits.
InterProiIPR027359. Channel_four-helix_dom.
IPR005821. Ion_trans_dom.
IPR000048. IQ_motif_EF-hand-BS.
IPR028826. Na_channel_a4su.
IPR008052. Na_channel_a4su_mammal.
IPR001696. Na_channel_asu.
IPR010526. Na_trans_assoc.
[Graphical view]
PANTHERiPTHR10037:SF223. PTHR10037:SF223. 2 hits.
PfamiPF00520. Ion_trans. 4 hits.
PF06512. Na_trans_assoc. 1 hit.
[Graphical view]
PRINTSiPR00170. NACHANNEL.
PR01665. NACHANNEL4.
PROSITEiPS50096. IQ. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSCN4A_HUMAN
AccessioniPrimary (citable) accession number: P35499
Secondary accession number(s): Q15478, Q16447, Q7Z6B1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: March 23, 2010
Last modified: November 30, 2016
This is version 174 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.