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P51172 (SCNND_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 129. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
Gene names
Name:SCNN1D
Synonyms:DNACH
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length638 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

Probable heterotrimer containing one alpha, one beta and one gamma subunit. A delta subunit can replace the alpha subunit. Ref.2

Subcellular location

Cell membrane; Multi-pass membrane protein Ref.3.

Sequence similarities

Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1D subfamily. [View classification]

Binary interactions

With

Entry

#Exp.

IntAct

Notes

COMMD1Q8N6683EBI-2547114,EBI-1550112

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P51172-1)

Also known as: delta1;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: P51172-2)

Also known as: delta2;

The sequence of this isoform differs from the canonical sequence as follows:
     1-21: MAEHRSMDGRMEAATRGGSHL → MAFLSRTSPV...TQHNAACKQG
Note: Channels including isoform 2 exhibit greater conductance than those containing isoform 1.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 638638Amiloride-sensitive sodium channel subunit delta
PRO_0000181282

Regions

Topological domain1 – 8787Cytoplasmic By similarity
Transmembrane88 – 11124Helical; By similarity
Topological domain112 – 520409Extracellular By similarity
Transmembrane521 – 55131Helical; By similarity
Topological domain552 – 63887Cytoplasmic By similarity

Amino acid modifications

Glycosylation1661N-linked (GlcNAc...) Potential
Glycosylation2111N-linked (GlcNAc...) Potential
Glycosylation3841N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 2121MAEHR…GGSHL → MAFLSRTSPVAAASFQSRQE ARGSILLQSCQLPPQWLSTE AWTGEWKQPHGGALTSRSPG PVAPQRPCHLKGWQHRPTQH NAACKQG in isoform 2.
VSP_007725
Natural variant1801R → P. Ref.6
Corresponds to variant rs11260579 [ dbSNP | Ensembl ].
VAR_028209
Natural variant3801E → Q. Ref.6
Corresponds to variant rs2228579 [ dbSNP | Ensembl ].
VAR_028210
Natural variant4721A → T.
Corresponds to variant rs13306651 [ dbSNP | Ensembl ].
VAR_028211
Natural variant5321C → Y. Ref.1 Ref.4 Ref.6
Corresponds to variant rs1053844 [ dbSNP | Ensembl ].
VAR_028212
Natural variant5621G → S. Ref.4
Corresponds to variant rs6690013 [ dbSNP | Ensembl ].
VAR_028213
Natural variant6061G → R. Ref.4
Corresponds to variant rs609805 [ dbSNP | Ensembl ].
VAR_028214

Experimental info

Sequence conflict461Q → R in ABI64069. Ref.2
Sequence conflict2601V → A in ABI64069. Ref.2
Sequence conflict2801H → Y in BAC04105. Ref.4
Sequence conflict4331F → L in BAC04105. Ref.4
Isoform 2:
Sequence conflict781T → A in ABI64069. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (delta1) [UniParc].

Last modified October 17, 2006. Version 2.
Checksum: 4BC9653E4BAB0600

FASTA63870,215
        10         20         30         40         50         60 
MAEHRSMDGR MEAATRGGSH LQAAAQTPPR PGPPSAPPPP PKEGHQEGLV ELPASFRELL 

        70         80         90        100        110        120 
TFFCTNATIH GAIRLVCSRG NRLKTTSWGL LSLGALVALC WQLGLLFERH WHRPVLMAVS 

       130        140        150        160        170        180 
VHSERKLLPL VTLCDGNPRR PSPVLRHLEL LDEFARENID SLYNVNLSKG RAALSATVPR 

       190        200        210        220        230        240 
HEPPFHLDRE IRLQRLSHSG SRVRVGFRLC NSTGGDCFYR GYTSGVAAVQ DWYHFHYVDI 

       250        260        270        280        290        300 
LALLPAAWED SHGSQDGHFV LSCSYDGLDC QARQFRTFHH PTYGSCYTVD GVWTAQRPGI 

       310        320        330        340        350        360 
THGVGLVLRV EQQPHLPLLS TLAGIRVMVH GRNHTPFLGH HSFSVRPGTE ATISIREDEV 

       370        380        390        400        410        420 
HRLGSPYGHC TAGGEGVEVE LLHNTSYTRQ ACLVSCFQQL MVETCSCGYY LHPLPAGAEY 

       430        440        450        460        470        480 
CSSARHPAWG HCFYRLYQDL ETHRLPCTSR CPRPCRESAF KLSTGTSRWP SAKSAGWTLA 

       490        500        510        520        530        540 
TLGEQGLPHQ SHRQRSSLAK INIVYQELNY RSVEEAPVYS VPQLLSAMGS LCSLWFGASV 

       550        560        570        580        590        600 
LSLLELLELL LDASALTLVL GGRRLRRAWF SWPRASPASG ASSIKPEASQ MPPPAGGTSD 

       610        620        630 
DPEPSGPHLP RVMLPGVLAG VSAEESWAGP QPLETLDT 

« Hide

Isoform 2 (delta2) [UniParc].

Checksum: 064ABE9A4EDDF84D
Show »

FASTA70477,442

References

« Hide 'large scale' references
[1]"Molecular cloning and functional expression of a novel amiloride-sensitive Na+ channel."
Waldmann R., Champigny G., Bassilana F., Voilley N., Lazdunski M.
J. Biol. Chem. 270:27411-27414(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT TYR-532.
[2]"Delta-subunit confers novel biophysical features to alpha beta gamma-human epithelial sodium channel (ENaC) via a physical interaction."
Ji H.L., Su X.F., Kedar S., Li J., Barbry P., Smith P.R., Matalon S., Benos D.J.
J. Biol. Chem. 281:8233-8241(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), SUBUNIT.
Tissue: Lung.
[3]"Characterization of the epithelial sodium channel delta-subunit in human nasal epithelium."
Bangel-Ruland N., Sobczak K., Christmann T., Kentrup D., Langhorst H., Kusche-Vihrog K., Weber W.M.
Am. J. Respir. Cell Mol. Biol. 42:498-505(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION.
Tissue: Nasal epithelium.
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANTS TYR-532; SER-562 AND ARG-606.
Tissue: Hippocampus and Testis.
[5]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS PRO-180; GLN-380 AND TYR-532.
Tissue: Brain.
[7]"Characterization of a novel splice variant of delta ENaC subunit in human lungs."
Zhao R.Z., Nie H.G., Su X.F., Han D.Y., Lee A., Huang Y., Chang Y., Matalon S., Ji H.L.
Am. J. Physiol. 302:L1262-L1272(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ALTERNATIVE SPLICING (ISOFORM 2).
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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. Translation: CAI23261.1.
AL162741 Genomic DNA. Translation: CAI23262.1.
BC036752 mRNA. Translation: AAH36752.1.
BC125074 mRNA. Translation: AAI25075.1.
PIRI39196.
RefSeqNP_001123885.2. NM_001130413.3.
UniGeneHs.512681.

3D structure databases

ProteinModelPortalP51172.
SMRP51172. Positions 92-548.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112243. 4 interactions.
IntActP51172. 1 interaction.
STRING9606.ENSP00000321594.

Chemistry

DrugBankDB00594. Amiloride.
DB00384. Triamterene.

PTM databases

PhosphoSiteP51172.

Polymorphism databases

DMDM116242784.

Proteomic databases

PaxDbP51172.
PRIDEP51172.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000325425; ENSP00000321594; ENSG00000162572. [P51172-2]
ENST00000338555; ENSP00000339504; ENSG00000162572. [P51172-1]
ENST00000400928; ENSP00000383717; ENSG00000162572. [P51172-1]
GeneID6339.
KEGGhsa:6339.
UCSCuc001adu.1. human. [P51172-1]
uc001adw.2. human. [P51172-2]

Organism-specific databases

CTD6339.
GeneCardsGC01P001215.
H-InvDBHIX0000018.
HGNCHGNC:10601. SCNN1D.
HPACAB009540.
HPA026884.
MIM601328. gene.
neXtProtNX_P51172.
PharmGKBPA35011.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG254914.
HOGENOMHOG000236286.
HOVERGENHBG058435.
KOK04826.
PhylomeDBP51172.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressP51172.
BgeeP51172.
CleanExHS_SCNN1D.
GenevestigatorP51172.

Family and domain databases

InterProIPR004724. EnaC.
IPR001873. Na+channel_ASC.
IPR020903. Na+channel_ASC_CS.
[Graphical view]
PANTHERPTHR11690. PTHR11690. 1 hit.
PfamPF00858. ASC. 1 hit.
[Graphical view]
PRINTSPR01078. AMINACHANNEL.
TIGRFAMsTIGR00859. ENaC. 1 hit.
PROSITEPS01206. ASC. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiSCNN1D.
GenomeRNAi6339.
NextBio24616.
PROP51172.
SOURCESearch...

Entry information

Entry nameSCNND_HUMAN
AccessionPrimary (citable) accession number: P51172
Secondary accession number(s): A9Z1X6 expand/collapse secondary AC list , B1PS44, Q08AQ3, Q09HT0, Q5T7L3, Q8NA24
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 17, 2006
Last modified: April 16, 2014
This is version 129 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM