Cell atlas - SCN4A - The Human Protein Atlas

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SCN4A

TISSUE

CELL

CANCER

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Microtubule organizing center
	Nucleoplasm

Human cell
	Centrosome
	Nucleoplasm

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GENERAL INFORMATION
Gene name	SCN4A
Gene description	Sodium channel, voltage gated, type IV alpha subunit
Protein class	Disease related genes FDA approved drug targets Predicted membrane proteins Transporters Voltage-gated ion channels
Predicted localization	Membrane
Number of transcripts	2
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HUMAN PROTEIN ATLAS INFORMATION
Summary	Mainly localized to the nucleoplasm. In addition localized to the microtubule organizing center.
RNA cell category	Group enriched (RH-30, REH)
Protein evidence	Evidence at protein level
Main location	Localized to the Nucleoplasm (approved)
Additional location	In addition localized to the Microtubule organizing center (approved)

DATA RELIABILITY
Reliability score	Approved based on 1 antibody. HPA053992
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Group enriched (RH-30, REH) Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Mainly localized to the nucleoplasm. In addition localized to the microtubule organizing center.

Main location

Nucleoplasm (approved)

Additional location

Microtubule organizing center (approved)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA053992	RH-30	Nucleoplasm
	HPA053992	U-2 OS	Nucleoplasm
	HPA053992	U-2 OS	Microtubule organizing center

GENE INFORMATION
Gene name	SCN4A (HGNC Symbol)
Synonyms	HYKPP, HYPP, Nav1.4, SkM1
Description	Sodium channel, voltage gated, type IV alpha subunit (HGNC Symbol)
Entrez gene summary	Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008]
Chromosome	17
Cytoband	q23.3
Chromosome location (bp)	63938554 - 63972918
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000007314 (version 83.38)
Entrez gene	6329
UniProt	P35499 (UniProt - Evidence at protein level)
neXtProt	NX_P35499
Antibodypedia	SCN4A antibodies

PROTEIN BROWSER

SCN4A-001	SCN4A-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
SCN4A-001 ENSP00000463963 ENST00000578147	J3QQZ1 [Direct mapping] Sodium channel protein Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based >9TM proteins predicted by MDM Show all	GO:0001518 [voltage-gated sodium channel complex] GO:0005216 [ion channel activity] GO:0005248 [voltage-gated sodium channel activity] GO:0005515 [protein binding] GO:0005886 [plasma membrane] GO:0006811 [ion transport] GO:0006814 [sodium ion transport] GO:0016020 [membrane] GO:0019228 [neuronal action potential] GO:0034765 [regulation of ion transmembrane transport] GO:0035725 [sodium ion transmembrane transport] GO:0055085 [transmembrane transport] GO:0086010 [membrane depolarization during action potential] Show all	1836 aa 208.2 kDa	No	>9
SCN4A-201 ENSP00000396320 ENST00000435607	P35499 [Direct mapping] Sodium channel protein type 4 subunit alpha Show all	Transporters Transporter channels and pores Voltage-gated ion channels Voltage-Gated Sodium Channels Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based >9TM proteins predicted by MDM Disease related genes FDA approved drug targets Small molecule drugs Protein evidence (Kim et al 2014) Show all	GO:0001518 [voltage-gated sodium channel complex] GO:0005216 [ion channel activity] GO:0005248 [voltage-gated sodium channel activity] GO:0005515 [protein binding] GO:0005886 [plasma membrane] GO:0005887 [integral component of plasma membrane] GO:0006811 [ion transport] GO:0006812 [cation transport] GO:0006813 [potassium ion transport] GO:0006814 [sodium ion transport] GO:0006936 [muscle contraction] GO:0015871 [choline transport] GO:0016020 [membrane] GO:0019228 [neuronal action potential] GO:0034765 [regulation of ion transmembrane transport] GO:0035725 [sodium ion transmembrane transport] GO:0055085 [transmembrane transport] GO:0086010 [membrane depolarization during action potential] Show all	1836 aa 208.1 kDa	No	>9

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.