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UniProtKB - P37088 (SCNNA_HUMAN)

Entry version 215 (23 Feb 2022)
Sequence version 1 (01 Oct 1994)
Previous versions | rss
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Protein

Amiloride-sensitive sodium channel subunit alpha

Gene

SCNN1A

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. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway surface liquid homeostasis, which is important for proper clearance of mucus. Controls the reabsorption of sodium in kidney, colon, lung and eccrine sweat glands. Also plays a role in taste perception.

3 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Activated by WNK1, WNK2, WNK3 and WNK4.By similarity

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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		P37088

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-2672351, Stimuli-sensing channels
R-HSA-9730628, Sensory perception of salty taste

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P37088

SIGNOR Signaling Network Open Resource

More...SIGNORi		P37088

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 alpha
Alternative name(s):
Alpha-NaCH
Epithelial Na(+) channel subunit alpha
Short name:
Alpha-ENaC
Short name:
ENaCA
Nonvoltage-gated sodium channel 1 subunit alpha
SCNEA
<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:SCNN1A
Synonyms:SCNN1
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 12

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:10599, SCNN1A

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600228, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P37088

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000111319

<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 – 85CytoplasmicBy similarityAdd BLAST85
<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>Transmembranei86 – 106Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini107 – 562ExtracellularBy similarityAdd BLAST456
Transmembranei563 – 583Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini584 – 669CytoplasmicBy similarityAdd BLAST86

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Cytoplasm, Cytoplasmic vesicle, Flagellum, 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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Pseudohypoaldosteronism 1, autosomal recessive (PHA1B)3 Publications
The disease is caused by variants affecting the gene represented in this entry. The degree of channel function impairment differentially affects the renin-aldosterone system and urinary Na/K ratios, resulting in distinct genotype-phenotype relationships in PHA1 patients. Loss-of-function mutations are associated with a severe clinical course and age-dependent hyperactivation of the renin-aldosterone system. This feature is not observed in patients with missense mutations that reduce but do not eliminate channel function. Markedly reduced channel activity results in impaired linear growth and delayed puberty (PubMed:18634878).1 Publication
Disease descriptionA rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. PHA1B is a severe form involving multiple organ systems, and characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and weight loss.
Related information in OMIM
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_026518327G → C in PHA1B; results in a significant reduction of channel function as compared to wild-type; significantly lowers both Li+ and Na+ ion currents. 2 PublicationsCorresponds to variant dbSNP:rs974854786Ensembl.1
Natural variantiVAR_015834562S → L in PHA1B. 1 PublicationCorresponds to variant dbSNP:rs137852635EnsemblClinVar.1
Bronchiectasis with or without elevated sweat chloride 2 (BESC2)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA debilitating respiratory disease characterized by chronic, abnormal dilatation of the bronchi and other cystic fibrosis-like symptoms in the absence of known causes of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary dyskinesia, common variable immunodeficiency, foreign body obstruction). Clinical features include sub-normal lung function, sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in some cases.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06079361F → L in BESC2; hypoactive mutation resulting in reduction of protein expression and a significant decrease of amiloride-sensitive sodium currents. 1 PublicationCorresponds to variant dbSNP:rs61758859Ensembl.1
Natural variantiVAR_060794114V → I in BESC2; hyperactive mutation resulting in a significant increase of amiloride-sensitive sodium currents. 1 PublicationCorresponds to variant dbSNP:rs61759861EnsemblClinVar.1
Liddle syndrome 3 (LIDLS3)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of Liddle syndrome, an autosomal dominant disorder characterized by early onset of hypertension, hypokalemic alkalosis, and suppression of plasma renin activity and aldosterone secretion.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_081179479C → R in LIDLS3; increased channel activity. 1 PublicationCorresponds to variant dbSNP:rs201873521EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi394C → S: Increased channel activity. 1 Publication1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		6337

MalaCards human disease database

More...MalaCardsi		SCNN1A
MIMi264350, phenotype
613021, phenotype
618126, phenotype

Open Targets

More...OpenTargetsi		ENSG00000111319

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		130, Brugada syndrome
171876, Generalized pseudohypoaldosteronism type 1
60033, Idiopathic bronchiectasis
526, Liddle syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA305

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P37088, Tclin

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL1791

Drug and drug target database

More...DrugBanki		DB00594, Amiloride
DB14509, Lithium carbonate
DB00384, Triamterene

DrugCentral

More...DrugCentrali		P37088

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		738

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SCNN1A

Domain mapping of disease mutations (DMDM)

More...DMDMi		585966

<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_00001812611 – 669Amiloride-sensitive sodium channel subunit alphaAdd BLAST669

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Ubiquitinated; this targets individual subunits for endocytosis and proteasome-mediated degradation.By similarity
ENaC cleavage by furin, and subsequently by prostasin (PRSS8), leads to a stepwise increase in the open probability of the channel as a result of release of the alpha and gamma subunit inhibitory tracts, respectively. Interaction of ENaC subunit SCNN1B with BPIFA1 protects ENaC against proteolytic activation.1 Publication
N-glycosylated.By similarity

Keywords - PTMi

Glycoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P37088

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P37088

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P37088

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

More...PaxDbi		P37088

PeptideAtlas

More...PeptideAtlasi		P37088

PRoteomics IDEntifications database

More...PRIDEi		P37088

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		55257 [P37088-1]
55258 [P37088-2]
55259 [P37088-3]
55260 [P37088-4]
55261 [P37088-5]
55262 [P37088-6]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P37088

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

More...PhosphoSitePlusi		P37088

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in the female reproductive tract, from the fimbrial end of the fallopian tube to the endometrium (at protein level) (PubMed:22207244). Expressed in kidney (at protein level). In the respiratory tract, expressed in the bronchial epithelium (at protein level). Highly expressed in lung. Detected at intermediate levels in pancreas and liver, and at low levels in heart and placenta (PubMed:22207244). in skin, expressed in keratinocytes, melanocytes and Merkel cells of the epidermal sub-layers, stratum basale, stratum spinosum and stratum granulosum (at protein level) (PubMed:28130590). Expressed in the outer root sheath of the hair follicles (at protein level) (PubMed:28130590). Detected in both peripheral and central cells of the sebaceous gland (at protein level) (PubMed:28130590). Expressed by eccrine sweat glands (at protein level) (PubMed:28130590). In skin, also expressed by arrector pili muscle cells and intradermal adipocytes (PubMed:28130590). Isoform 1 and isoform 2 predominate in all tissues. Expression of isoform 3, isoform 4 and isoform 5 is very low or not detectable, except in lung and heart (PubMed:9575806).3 Publications

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

By aldosterone.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000111319, Expressed in nasal cavity epithelium and 237 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P37088, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P37088, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000111319, Tissue enhanced (salivary)

<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 an alpha/SCNN1A, a beta/SCNN1B and a gamma/SCNN1G subunit. An additional delta/SCNN1D subunit exists only in some organisms and can replace the alpha/SCNN1A subunit to form an alternative channel with specific properties (By similarity).

Interacts with NEDD4 (via WW domains) (PubMed:11244092, PubMed:11696533, PubMed:12167593, PubMed:23665454).

Interacts with NEDD4L (via WW domains) (PubMed:11244092, PubMed:11696533).

Interacts with WWP1 (via WW domains) (PubMed:9169421).

Interacts with WWP2 (via WW domains) (PubMed:12167593, PubMed:9169421).

Interacts with the full-length immature form of PCSK9 (pro-PCSK9) (PubMed:22493497).

By similarity6 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

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		112241, 64 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-2188, Amiloride-sensitive sodium channel complex, alpha-beta-gamma
CPX-312, Amiloride-sensitive sodium channel complex, delta-alpha-beta-gamma

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P37088

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		P37088

Protein interaction database and analysis system

More...IntActi		P37088, 4 interactors

Molecular INTeraction database

More...MINTi		P37088

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000353292

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P37088

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P37088, 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

Secondary structure

1669
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		P37088

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 43DisorderedSequence analysisAdd BLAST43
Regioni620 – 669DisorderedSequence analysisAdd BLAST50

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi633 – 648Pro residuesSequence analysisAdd BLAST16

<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

Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1A subfamily. [View classification]Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4294, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000160952

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_020415_0_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P37088

Identification of Orthologs from Complete Genome Data

More...OMAi		NEDCFHQ

Database of Orthologous Groups

More...OrthoDBi		686369at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P37088

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 (6+)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 6 <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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 6 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P37088-1) [UniParc]FASTAAdd to basket
Also known as: Alpha ENAC1

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><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
MEGNKLEEQD SSPPQSTPGL MKGNKREEQG LGPEPAAPQQ PTAEEEALIE 
        60         70         80         90        100
FHRSYRELFE FFCNNTTIHG AIRLVCSQHN RMKTAFWAVL WLCTFGMMYW 
       110        120        130        140        150
QFGLLFGEYF SYPVSLNINL NSDKLVFPAV TICTLNPYRY PEIKEELEEL 
       160        170        180        190        200
DRITEQTLFD LYKYSSFTTL VAGSRSRRDL RGTLPHPLQR LRVPPPPHGA 
       210        220        230        240        250
RRARSVASSL RDNNPQVDWK DWKIGFQLCN QNKSDCFYQT YSSGVDAVRE 
       260        270        280        290        300
WYRFHYINIL SRLPETLPSL EEDTLGNFIF ACRFNQVSCN QANYSHFHHP 
       310        320        330        340        350
MYGNCYTFND KNNSNLWMSS MPGINNGLSL MLRAEQNDFI PLLSTVTGAR 
       360        370        380        390        400
VMVHGQDEPA FMDDGGFNLR PGVETSISMR KETLDRLGGD YGDCTKNGSD 
       410        420        430        440        450
VPVENLYPSK YTQQVCIHSC FQESMIKECG CAYIFYPRPQ NVEYCDYRKH 
       460        470        480        490        500
SSWGYCYYKL QVDFSSDHLG CFTKCRKPCS VTSYQLSAGY SRWPSVTSQE 
       510        520        530        540        550
WVFQMLSRQN NYTVNNKRNG VAKVNIFFKE LNYKTNSESP SVTMVTLLSN 
       560        570        580        590        600
LGSQWSLWFG SSVLSVVEMA ELVFDLLVIM FLMLLRRFRS RYWSPGRGGR 
       610        620        630        640        650
GAQEVASTLA SSPPSHFCPH PMSLSLSQPG PAPSPALTAP PPAYATLGPR 
       660 
PSPGGSAGAS SSTCPLGGP
Length:669
Mass (Da):75,704
Last modified:October 1, 1994 - v1
<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:i2CCF342E7DF32E72
GO
Isoform 2 (identifier: P37088-2) [UniParc]FASTAAdd to basket
Also known as: Alpha ENAC2

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MGMARGSLTRVPGVMGEGTQGPELSLDPDPCSPQSTPGLMKGNKLEEQDPRPLQPIPGLM

Show »
Length:728
Mass (Da):81,856
Checksum:i206613374DFB1800
GO
Isoform 3 (identifier: P37088-3) [UniParc]FASTAAdd to basket
Also known as: Alpha ENACx

The sequence of this isoform differs from the canonical sequence as follows:
     229-245: CNQNKSDCFYQTYSSGV → ELLSLPPPDVWKLLYFG
     246-669: Missing.

Note: Does not give rise to amiloride-sensitive ion current. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated
Show »
Length:245
Mass (Da):28,328
Checksum:iFFDC0622FFA37329
GO
Isoform 4 (identifier: P37088-4) [UniParc]FASTAAdd to basket
Also known as: Alpha ENAC-19

The sequence of this isoform differs from the canonical sequence as follows:
     327-345: Missing.

Note: Amiloride-sensitive ion current is nearly abolished.Curated
Show »
Length:650
Mass (Da):73,603
Checksum:i5866D42CCAF6F8B4
GO
Isoform 5 (identifier: P37088-5) [UniParc]FASTAAdd to basket
Also known as: Alpha ENAC+22

The sequence of this isoform differs from the canonical sequence as follows:
     454-454: G → GQVRSLTPVIPALWEAEAGGSRG

Note: Does not give rise to amiloride-sensitive ion current.Curated
Show »
Length:691
Mass (Da):77,980
Checksum:i07B981FBE74AE30B
GO
Isoform 6 (identifier: P37088-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MSSIKGNKLEEQDPRPLQPIPGLM

Show »
Length:692
Mass (Da):78,234
Checksum:i3AD7710E69D1BE54
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H5F8F5H5F8_HUMAN
Amiloride-sensitive sodium channel ...
SCNN1A
159Annotation 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>
C5HTZ1C5HTZ1_HUMAN
Amiloride-sensitive sodium channel ...
SCNN1A
245Annotation 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>
F5GXE6F5GXE6_HUMAN
Amiloride-sensitive sodium channel ...
SCNN1A
369Annotation 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>
J3KPV6J3KPV6_HUMAN
Amiloride-sensitive sodium channel ...
SCNN1A
511Annotation 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH06526 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06079361F → L in BESC2; hypoactive mutation resulting in reduction of protein expression and a significant decrease of amiloride-sensitive sodium currents. 1 PublicationCorresponds to variant dbSNP:rs61758859Ensembl.1
Natural variantiVAR_060794114V → I in BESC2; hyperactive mutation resulting in a significant increase of amiloride-sensitive sodium currents. 1 PublicationCorresponds to variant dbSNP:rs61759861EnsemblClinVar.1
Natural variantiVAR_060795181R → W Significant increase of amiloride-sensitive sodium currents. 2 PublicationsCorresponds to variant dbSNP:rs55797039EnsemblClinVar.1
Natural variantiVAR_026518327G → C in PHA1B; results in a significant reduction of channel function as compared to wild-type; significantly lowers both Li+ and Na+ ion currents. 2 PublicationsCorresponds to variant dbSNP:rs974854786Ensembl.1
Natural variantiVAR_060796334A → T Significant decrease of amiloride-sensitive sodium currents. 2 PublicationsCorresponds to variant dbSNP:rs11542844EnsemblClinVar.1
Natural variantiVAR_052035402P → H. Corresponds to variant dbSNP:rs13306616Ensembl.1
Natural variantiVAR_081179479C → R in LIDLS3; increased channel activity. 1 PublicationCorresponds to variant dbSNP:rs201873521EnsemblClinVar.1
Natural variantiVAR_015833493W → R Results in a 4-fold increase of amiloride-sensitive sodium currents; found in BESC2 patients at higher frequency than in controls; associated with an increased risk for ischemic cerebrovascular events. 2 PublicationsCorresponds to variant dbSNP:rs5742912EnsemblClinVar.1
Natural variantiVAR_015834562S → L in PHA1B. 1 PublicationCorresponds to variant dbSNP:rs137852635EnsemblClinVar.1
Natural variantiVAR_060797573V → I. Corresponds to variant dbSNP:rs59142484EnsemblClinVar.1
Natural variantiVAR_022142618C → F1 PublicationCorresponds to variant dbSNP:rs3741913EnsemblClinVar.1
Natural variantiVAR_015835663T → A7 PublicationsCorresponds to variant dbSNP:rs2228576EnsemblClinVar.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_0077191M → MGMARGSLTRVPGVMGEGTQ GPELSLDPDPCSPQSTPGLM KGNKLEEQDPRPLQPIPGLM in isoform 2. Curated1
Alternative sequenceiVSP_0436671M → MSSIKGNKLEEQDPRPLQPI PGLM in isoform 6. 1 Publication1
Alternative sequenceiVSP_007720229 – 245CNQNK…YSSGV → ELLSLPPPDVWKLLYFG in isoform 3. CuratedAdd BLAST17
Alternative sequenceiVSP_007721246 – 669Missing in isoform 3. CuratedAdd BLAST424
Alternative sequenceiVSP_007722327 – 345Missing in isoform 4. CuratedAdd BLAST19
Alternative sequenceiVSP_007723454G → GQVRSLTPVIPALWEAEAGG SRG in isoform 5. Curated1

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
X76180 mRNA Translation: CAA53773.1
L29007 Genomic DNA Translation: AAA21813.1
Z92978 Z92981 Genomic DNA Translation: CAB07505.1
AF060913 AF060912 Genomic DNA Translation: AAD28355.1
DQ402522 mRNA Translation: ABD72218.1
AK304379 mRNA Translation: BAG65217.1
FJ515830 Genomic DNA Translation: ACS13721.1
AC005840 Genomic DNA No translation available.
AC006057 Genomic DNA No translation available.
CH471116 Genomic DNA Translation: EAW88804.1
BC006526 mRNA Translation: AAH06526.2 Different initiation.
BC062613 mRNA Translation: AAH62613.1
U81961 Genomic DNA Translation: AAC31773.1
U81961 Genomic DNA Translation: AAC31774.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS53738.1 [P37088-2]
CCDS53739.1 [P37088-6]
CCDS8543.1 [P37088-1]

Protein sequence database of the Protein Information Resource

More...PIRi		A49585

NCBI Reference Sequences

More...RefSeqi		NP_001029.1, NM_001038.5 [P37088-1]
NP_001153047.1, NM_001159575.1 [P37088-6]
NP_001153048.1, NM_001159576.1 [P37088-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000228916; ENSP00000228916; ENSG00000111319
ENST00000360168; ENSP00000353292; ENSG00000111319 [P37088-2]
ENST00000543768; ENSP00000438739; ENSG00000111319 [P37088-6]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		6337

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:6337

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000228916.7; ENSP00000228916.2; NM_001038.6; NP_001029.1

UCSC genome browser

More...UCSCi		uc001qnw.3, human [P37088-1]

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
X76180 mRNA Translation: CAA53773.1
L29007 Genomic DNA Translation: AAA21813.1
Z92978 Z92981 Genomic DNA Translation: CAB07505.1
AF060913 AF060912 Genomic DNA Translation: AAD28355.1
DQ402522 mRNA Translation: ABD72218.1
AK304379 mRNA Translation: BAG65217.1
FJ515830 Genomic DNA Translation: ACS13721.1
AC005840 Genomic DNA No translation available.
AC006057 Genomic DNA No translation available.
CH471116 Genomic DNA Translation: EAW88804.1
BC006526 mRNA Translation: AAH06526.2 Different initiation.
BC062613 mRNA Translation: AAH62613.1
U81961 Genomic DNA Translation: AAC31773.1
U81961 Genomic DNA Translation: AAC31774.1
CCDSiCCDS53738.1 [P37088-2]
CCDS53739.1 [P37088-6]
CCDS8543.1 [P37088-1]
PIRiA49585
RefSeqiNP_001029.1, NM_001038.5 [P37088-1]
NP_001153047.1, NM_001159575.1 [P37088-6]
NP_001153048.1, NM_001159576.1 [P37088-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2M3ONMR-P638-648[»]
6BQNelectron microscopy3.90A111-543[»]
6WTHelectron microscopy3.06A1-669[»]
SMRiP37088
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi112241, 64 interactors
ComplexPortaliCPX-2188, Amiloride-sensitive sodium channel complex, alpha-beta-gamma
CPX-312, Amiloride-sensitive sodium channel complex, delta-alpha-beta-gamma
CORUMiP37088
ELMiP37088
IntActiP37088, 4 interactors
MINTiP37088
STRINGi9606.ENSP00000353292

Chemistry databases

BindingDBiP37088
ChEMBLiCHEMBL1791
DrugBankiDB00594, Amiloride
DB14509, Lithium carbonate
DB00384, Triamterene
DrugCentraliP37088
GuidetoPHARMACOLOGYi738

Protein family/group databases

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

PTM databases

iPTMnetiP37088
PhosphoSitePlusiP37088

Genetic variation databases

BioMutaiSCNN1A
DMDMi585966

Proteomic databases

EPDiP37088
jPOSTiP37088
MassIVEiP37088
PaxDbiP37088
PeptideAtlasiP37088
PRIDEiP37088
ProteomicsDBi55257 [P37088-1]
55258 [P37088-2]
55259 [P37088-3]
55260 [P37088-4]
55261 [P37088-5]
55262 [P37088-6]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		2337, 327 antibodies from 34 providers

The DNASU plasmid repository

More...DNASUi		6337

Genome annotation databases

EnsembliENST00000228916; ENSP00000228916; ENSG00000111319
ENST00000360168; ENSP00000353292; ENSG00000111319 [P37088-2]
ENST00000543768; ENSP00000438739; ENSG00000111319 [P37088-6]
GeneIDi6337
KEGGihsa:6337
MANE-SelectiENST00000228916.7; ENSP00000228916.2; NM_001038.6; NP_001029.1
UCSCiuc001qnw.3, human [P37088-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		6337
DisGeNETi6337

GeneCards: human genes, protein and diseases

More...GeneCardsi		SCNN1A
HGNCiHGNC:10599, SCNN1A
HPAiENSG00000111319, Tissue enhanced (salivary)
MalaCardsiSCNN1A
MIMi264350, phenotype
600228, gene
613021, phenotype
618126, phenotype
neXtProtiNX_P37088
OpenTargetsiENSG00000111319
Orphaneti130, Brugada syndrome
171876, Generalized pseudohypoaldosteronism type 1
60033, Idiopathic bronchiectasis
526, Liddle syndrome
PharmGKBiPA305
VEuPathDBiHostDB:ENSG00000111319

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4294, Eukaryota
GeneTreeiENSGT00940000160952
HOGENOMiCLU_020415_0_1_1
InParanoidiP37088
OMAiNEDCFHQ
OrthoDBi686369at2759
PhylomeDBiP37088
TreeFamiTF330663

Enzyme and pathway databases

PathwayCommonsiP37088
ReactomeiR-HSA-2672351, Stimuli-sensing channels
R-HSA-9730628, Sensory perception of salty taste
SignaLinkiP37088
SIGNORiP37088

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		6337, 5 hits in 1034 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		SCNN1A, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SCNN1A

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

More...GenomeRNAii		6337
PharosiP37088, Tclin

Protein Ontology

More...PROi		PR:P37088
RNActiP37088, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000111319, Expressed in nasal cavity epithelium and 237 other tissues
ExpressionAtlasiP37088, baseline and differential
GenevisibleiP37088, 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

MobiDB: a database of protein disorder and mobility annotations

More...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 nameiSCNNA_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: P37088
Secondary accession number(s): A5X2U9
, B4E2Q5, C5HTZ0, O43271, Q6GSQ6, Q9UM64
<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, 1994
Last sequence update: October 1, 1994
Last modified: February 23, 2022
This is version 215 of the entry and version 1 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

3D-structure, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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