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Reviewed, UniProtKB/Swiss-Prot P51172 (SCNND_HUMAN)

Last modified November 25, 2008. Version 79. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Amiloride-sensitive sodium channel subunit delta
Alternative name(s):
    Epithelial Na(+) channel subunit delta
    Delta-ENaC
    SCNED
    Nonvoltage-gated sodium channel 1 subunit delta
    Delta-NaCH
Gene names
Name: SCNN1D
Synonyms: DNACH
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length638 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
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

Heterotetramer of two alpha, one beta and one gamma subunit. A delta subunit can replace the alpha subunit.

Subcellular location

Membrane; Multi-pass membrane protein.

Sequence similarities

Belongs to the amiloride-sensitive sodium channel family.

Ontologies

Alternative products

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

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)

The sequence of this isoform differs from the canonical sequence as follows:
     1-21: MAEHRSMDGRMEAATRGGSHL → MAFLSRTSPV...TQHNAACKQG
Notes: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 638638Amiloride-sensitive sodium channel subunit delta
PRO_0000181282

Regions

Topological domain1 – 8686Cytoplasmic Potential
Transmembrane87 – 10721 Potential
Topological domain108 – 530423Extracellular Potential
Transmembrane531 – 55121 Potential
Topological domain552 – 63887Cytoplasmic Potential

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: dbSNP rs11260579.
VAR_028209
Natural variant3801E → Q: dbSNP rs13306644.
VAR_028210
Natural variant4721A → T: dbSNP rs13306651.
VAR_028211
Natural variant5321C → Y: dbSNP rs1053844.
VAR_028212
Natural variant5621G → S: dbSNP rs6690013.
VAR_028213
Natural variant6061G → R: dbSNP rs609805.
VAR_028214

Experimental info

Sequence conflict2801H → Y in BAC04105. Ref.2
Sequence conflict4331F → L in BAC04105. Ref.2

Sequences

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

Checksum: 064ABE9A4EDDF84D
Show »

70477,442

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: 7499195] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT TYR-532.
[2]"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: 14702039] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANTS TYR-532; SER-562 AND ARG-606.
Tissue: Testis.
[3]"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: 16710414] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS PRO-180; GLN-380 AND TYR-532.
Tissue: Brain.
+Additional computationally mapped references.

Cross-references

Sequence databases

U38254 mRNA. Translation: AAC50283.1.
AK093239 mRNA. Translation: BAC04105.1.
AL162741 Genomic DNA. Translation: CAI23261.1.
AL162741 Genomic DNA. Translation: CAI23262.1.
BC036752 mRNA. Translation: AAH36752.1.
BC125074 mRNA. Translation: AAI25075.1.
PIRI39196.
RefSeqNP_001123885.1.
NP_002969.2.
UniGeneHs.512681

3D structure databases

ModBaseSearch...

Genome annotation databases

EnsemblENSG00000162572. Homo sapiens. [Contig view]
GeneID6339.
KEGGhsa:6339.

Organism-specific databases

H-InvDBHIX0000018.
HGNCHGNC:10601. SCNN1D.
HPACAB009540.
MIM601328. gene.
PharmGKBPA35011.
GenAtlasSearch...
GeneCardsSearch...

Phylogenomic databases

HOVERGENP51172.

Gene expression databases

CleanExHS_SCNN1D.
GermOnlineENSG00000162572. Homo sapiens.

Family and domain databases

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

Other Resources

DrugBankDB00594. Amiloride.
DB00384. Triamterene.
NextBio24616.
SOURCESearch...

Entry information

Entry nameSCNND_HUMAN
AccessionPrimary (citable) accession number: P51172
Secondary accession number(s): A9Z1X6 expand/collapse secondary AC list , Q08AQ3, Q5T7L3, Q8NA24
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 17, 2006
Last modified: November 25, 2008
This is version 79 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Human chromosome 1

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

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents