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Entry version 174 (07 Apr 2021)
Sequence version 3 (16 Jan 2019)
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Protein

Amiloride-sensitive sodium channel subunit delta

Gene

SCNN1D

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception.2 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionIon channel, Sodium channel
Biological processIon transport, Sensory transduction, Sodium transport, Taste, Transport
LigandSodium

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
P51172

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2672351, Stimuli-sensing channels

Protein family/group databases

Transport Classification Database

More...
TCDBi
1.A.6.1.1, the epithelial na(+) channel (enac) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Amiloride-sensitive sodium channel subunit delta
Alternative name(s):
Delta-NaCH
Epithelial Na(+) channel subunit delta
Short name:
Delta-ENaC
Short name:
ENaCD
Nonvoltage-gated sodium channel 1 subunit delta
SCNED
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SCNN1D
Synonyms:DNACH
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:10601, SCNN1D

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
601328, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P51172

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000162572.19

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 250Cytoplasmic1 PublicationAdd BLAST250
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei251 – 271Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini272 – 694Extracellular1 PublicationAdd BLAST423
Transmembranei695 – 715Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini716 – 802Cytoplasmic1 PublicationAdd BLAST87

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
6339

Open Targets

More...
OpenTargetsi
ENSG00000162572

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA35011

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P51172, Tbio

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB00594, Amiloride
DB00384, Triamterene

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SCNN1D

Domain mapping of disease mutations (DMDM)

More...
DMDMi
116242784

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001812821 – 802Amiloride-sensitive sodium channel subunit deltaAdd BLAST802

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi330N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi548N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
P51172

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P51172

PeptideAtlas

More...
PeptideAtlasi
P51172

PRoteomics IDEntifications database

More...
PRIDEi
P51172

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
1607
56298 [P51172-1]
56299 [P51172-2]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
P51172, 2 sites

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P51172

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P51172

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000162572, Expressed in right testis and 113 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P51172, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P51172, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000162572, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterotrimer containing a delta/SCNN1D, a beta/SCNN1B and a gamma/SCNN1G subunit. The additional delta/SCNN1D subunit exists only in some organisms and can replace the alpha/SCNN1A subunit to form an alternative channel with specific properties.

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
112243, 25 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...
ComplexPortali
CPX-312, Amiloride-sensitive sodium channel complex, delta-alpha-beta-gamma
CPX-313, Amiloride-sensitive sodium channel complex, delta-beta-gamma

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
P51172

Protein interaction database and analysis system

More...
IntActi
P51172, 21 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000368411

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
P51172, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
P51172

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4294, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000162685

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P51172

Database of Orthologous Groups

More...
OrthoDBi
686369at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P51172

TreeFam database of animal gene trees

More...
TreeFami
TF330663

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001873, ENaC
IPR004724, ENaC_chordates
IPR020903, ENaC_CS

The PANTHER Classification System

More...
PANTHERi
PTHR11690, PTHR11690, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00858, ASC, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR01078, AMINACHANNEL

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR00859, ENaC, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS01206, ASC, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 3 (identifier: P51172-3) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MRAVLSQKTT PLPRYLWPGH LSGPRRLTWS WCSDHRTPTC RELGSPHPTP
60 70 80 90 100
CTGPARGWPR RGGGPCGFTS AGHVLCGYPL CLLSGPIQGC GTGLGDSSMA
110 120 130 140 150
FLSRTSPVAA ASFQSRQEAR GSILLQSCQL PPQWLSTEAW TGEWKQPHGG
160 170 180 190 200
ALTSRSPGPV APQRPCHLKG WQHRPTQHNA ACKQGQAAAQ TPPRPGPPSA
210 220 230 240 250
PPPPPKEGHQ EGLVELPASF RELLTFFCTN ATIHGAIRLV CSRGNRLKTT
260 270 280 290 300
SWGLLSLGAL VALCWQLGLL FERHWHRPVL MAVSVHSERK LLPLVTLCDG
310 320 330 340 350
NPRRPSPVLR HLELLDEFAR ENIDSLYNVN LSKGRAALSA TVPRHEPPFH
360 370 380 390 400
LDREIRLQRL SHSGSRVRVG FRLCNSTGGD CFYRGYTSGV AAVQDWYHFH
410 420 430 440 450
YVDILALLPA AWEDSHGSQD GHFVLSCSYD GLDCQARQFR TFHHPTYGSC
460 470 480 490 500
YTVDGVWTAQ RPGITHGVGL VLRVEQQPHL PLLSTLAGIR VMVHGRNHTP
510 520 530 540 550
FLGHHSFSVR PGTEATISIR EDEVHRLGSP YGHCTAGGEG VEVELLHNTS
560 570 580 590 600
YTRQACLVSC FQQLMVETCS CGYYLHPLPA GAEYCSSARH PAWGHCFYRL
610 620 630 640 650
YQDLETHRLP CTSRCPRPCR ESAFKLSTGT SRWPSAKSAG WTLATLGEQG
660 670 680 690 700
LPHQSHRQRS SLAKINIVYQ ELNYRSVEEA PVYSVPQLLS AMGSLCSLWF
710 720 730 740 750
GASVLSLLEL LELLLDASAL TLVLGGRRLR RAWFSWPRAS PASGASSIKP
760 770 780 790 800
EASQMPPPAG GTSDDPEPSG PHLPRVMLPG VLAGVSAEES WAGPQPLETL

DT
Length:802
Mass (Da):87,850
Last modified:January 16, 2019 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i5CC845DA14F2E6B4
GO
Isoform 1 (identifier: P51172-1) [UniParc]FASTAAdd to basket
Also known as: delta1

The sequence of this isoform differs from the canonical sequence as follows:
     1-164: Missing.
     165-185: PCHLKGWQHRPTQHNAACKQG → MAEHRSMDGRMEAATRGGSHL

Show »
Length:638
Mass (Da):70,215
Checksum:i4BC9653E4BAB0600
GO
Isoform 2 (identifier: P51172-2) [UniParc]FASTAAdd to basket
Also known as: delta2

The sequence of this isoform differs from the canonical sequence as follows:
     1-98: Missing.

Note: Channels including isoform 2 exhibit greater conductance than those containing isoform 1.Curated
Show »
Length:704
Mass (Da):77,442
Checksum:i064ABE9A4EDDF84D
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y3F1H0Y3F1_HUMAN
Amiloride-sensitive sodium channel ...
SCNN1D
308Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JDY8C9JDY8_HUMAN
Amiloride-sensitive sodium channel ...
SCNN1D
139Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8VWH5F8VWH5_HUMAN
Amiloride-sensitive sodium channel ...
SCNN1D
328Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti176T → A in ABI64069 (PubMed:16423824).Curated1
Sequence conflicti210Q → R in ABI64069 (PubMed:16423824).Curated1
Sequence conflicti424V → A in ABI64069 (PubMed:16423824).Curated1
Sequence conflicti444H → Y in BAC04105 (PubMed:14702039).Curated1
Sequence conflicti597F → L in BAC04105 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_028209344R → P1 PublicationCorresponds to variant dbSNP:rs11260579Ensembl.1
Natural variantiVAR_028210544E → Q1 PublicationCorresponds to variant dbSNP:rs2228579Ensembl.1
Natural variantiVAR_028211636A → T. Corresponds to variant dbSNP:rs13306651Ensembl.1
Natural variantiVAR_028212696C → Y3 PublicationsCorresponds to variant dbSNP:rs1053844Ensembl.1
Natural variantiVAR_028213726G → S1 PublicationCorresponds to variant dbSNP:rs6690013Ensembl.1
Natural variantiVAR_028214770G → R1 PublicationCorresponds to variant dbSNP:rs609805Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0600001 – 164Missing in isoform 1. Add BLAST164
Alternative sequenceiVSP_0600011 – 98Missing in isoform 2. Add BLAST98
Alternative sequenceiVSP_060002165 – 185PCHLK…ACKQG → MAEHRSMDGRMEAATRGGSH L in isoform 1. Add BLAST21

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
U38254 mRNA Translation: AAC50283.1
DQ898176 mRNA Translation: ABI64069.1
EU489064 mRNA Translation: ACA51868.1
AK093239 mRNA Translation: BAC04105.1
AK127357 mRNA Translation: BAG54495.1
AL162741 Genomic DNA No translation available.
BC036752 mRNA Translation: AAH36752.1
BC125074 mRNA Translation: AAI25075.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS44037.2 [P51172-3]

Protein sequence database of the Protein Information Resource

More...
PIRi
I39196

NCBI Reference Sequences

More...
RefSeqi
NP_001123885.2, NM_001130413.3 [P51172-3]
XP_011540227.1, XM_011541925.2
XP_011540234.1, XM_011541932.2
XP_011540235.1, XM_011541933.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000325425; ENSP00000321594; ENSG00000162572 [P51172-2]
ENST00000338555; ENSP00000339504; ENSG00000162572 [P51172-1]
ENST00000379116; ENSP00000368411; ENSG00000162572 [P51172-3]
ENST00000400928; ENSP00000383717; ENSG00000162572 [P51172-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
6339

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:6339

UCSC genome browser

More...
UCSCi
uc001adw.3, human [P51172-3]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U38254 mRNA Translation: AAC50283.1
DQ898176 mRNA Translation: ABI64069.1
EU489064 mRNA Translation: ACA51868.1
AK093239 mRNA Translation: BAC04105.1
AK127357 mRNA Translation: BAG54495.1
AL162741 Genomic DNA No translation available.
BC036752 mRNA Translation: AAH36752.1
BC125074 mRNA Translation: AAI25075.1
CCDSiCCDS44037.2 [P51172-3]
PIRiI39196
RefSeqiNP_001123885.2, NM_001130413.3 [P51172-3]
XP_011540227.1, XM_011541925.2
XP_011540234.1, XM_011541932.2
XP_011540235.1, XM_011541933.2

3D structure databases

SMRiP51172
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi112243, 25 interactors
ComplexPortaliCPX-312, Amiloride-sensitive sodium channel complex, delta-alpha-beta-gamma
CPX-313, Amiloride-sensitive sodium channel complex, delta-beta-gamma
CORUMiP51172
IntActiP51172, 21 interactors
STRINGi9606.ENSP00000368411

Chemistry databases

DrugBankiDB00594, Amiloride
DB00384, Triamterene

Protein family/group databases

TCDBi1.A.6.1.1, the epithelial na(+) channel (enac) family

PTM databases

GlyGeniP51172, 2 sites
iPTMnetiP51172
PhosphoSitePlusiP51172

Genetic variation databases

BioMutaiSCNN1D
DMDMi116242784

Proteomic databases

MassIVEiP51172
PaxDbiP51172
PeptideAtlasiP51172
PRIDEiP51172
ProteomicsDBi1607
56298 [P51172-1]
56299 [P51172-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
4029, 252 antibodies

Genome annotation databases

EnsembliENST00000325425; ENSP00000321594; ENSG00000162572 [P51172-2]
ENST00000338555; ENSP00000339504; ENSG00000162572 [P51172-1]
ENST00000379116; ENSP00000368411; ENSG00000162572 [P51172-3]
ENST00000400928; ENSP00000383717; ENSG00000162572 [P51172-1]
GeneIDi6339
KEGGihsa:6339
UCSCiuc001adw.3, human [P51172-3]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
6339
DisGeNETi6339

GeneCards: human genes, protein and diseases

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GeneCardsi
SCNN1D
HGNCiHGNC:10601, SCNN1D
HPAiENSG00000162572, Low tissue specificity
MIMi601328, gene
neXtProtiNX_P51172
OpenTargetsiENSG00000162572
PharmGKBiPA35011
VEuPathDBiHostDB:ENSG00000162572.19

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4294, Eukaryota
GeneTreeiENSGT00940000162685
InParanoidiP51172
OrthoDBi686369at2759
PhylomeDBiP51172
TreeFamiTF330663

Enzyme and pathway databases

PathwayCommonsiP51172
ReactomeiR-HSA-2672351, Stimuli-sensing channels

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
6339, 12 hits in 988 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
SCNN1D

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
6339
PharosiP51172, Tbio

Protein Ontology

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PROi
PR:P51172
RNActiP51172, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000162572, Expressed in right testis and 113 other tissues
ExpressionAtlasiP51172, baseline and differential
GenevisibleiP51172, HS

Family and domain databases

InterProiView protein in InterPro
IPR001873, ENaC
IPR004724, ENaC_chordates
IPR020903, ENaC_CS
PANTHERiPTHR11690, PTHR11690, 1 hit
PfamiView protein in Pfam
PF00858, ASC, 1 hit
PRINTSiPR01078, AMINACHANNEL
TIGRFAMsiTIGR00859, ENaC, 1 hit
PROSITEiView protein in PROSITE
PS01206, ASC, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSCNND_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P51172
Secondary accession number(s): A6NNF7
, A9Z1X6, B1PS44, B3KSD7, Q08AQ3, Q09HT0, Q5T7L3, Q8NA24
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: January 16, 2019
Last modified: April 7, 2021
This is version 174 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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
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