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P51172

- SCNND_HUMAN

UniProt

P51172 - SCNND_HUMAN

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Protein
Amiloride-sensitive sodium channel subunit delta
Gene
SCNN1D, DNACH
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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.

GO - Molecular functioni

  1. ligand-gated sodium channel activity Source: ProtInc
  2. protein binding Source: IntAct

GO - Biological processi

  1. ion transmembrane transport Source: Reactome
  2. response to stimulus Source: UniProtKB-KW
  3. sensory perception of taste Source: UniProtKB-KW
  4. sodium ion transmembrane transport Source: GOC
  5. sodium ion transport Source: ProtInc
  6. transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Sodium channel

Keywords - Biological processi

Ion transport, Sensory transduction, Sodium transport, Taste, Transport

Keywords - Ligandi

Sodium

Enzyme and pathway databases

ReactomeiREACT_160189. Stimuli-sensing channels.

Names & Taxonomyi

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
Gene namesi
Name:SCNN1D
Synonyms:DNACH
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:10601. SCNN1D.

Subcellular locationi

Cell membrane; Multi-pass membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 8787Cytoplasmic By similarity
Add
BLAST
Transmembranei88 – 11124Helical; By similarity
Add
BLAST
Topological domaini112 – 520409Extracellular By similarity
Add
BLAST
Transmembranei521 – 55131Helical; By similarity
Add
BLAST
Topological domaini552 – 63887Cytoplasmic By similarity
Add
BLAST

GO - Cellular componenti

  1. actin cytoskeleton Source: HPA
  2. integral component of membrane Source: UniProtKB-KW
  3. membrane Source: UniProt
  4. plasma membrane Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA35011.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 638638Amiloride-sensitive sodium channel subunit delta
PRO_0000181282Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi166 – 1661N-linked (GlcNAc...) Reviewed prediction
Glycosylationi211 – 2111N-linked (GlcNAc...) Reviewed prediction
Glycosylationi384 – 3841N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiP51172.
PRIDEiP51172.

PTM databases

PhosphoSiteiP51172.

Expressioni

Gene expression databases

ArrayExpressiP51172.
BgeeiP51172.
CleanExiHS_SCNN1D.
GenevestigatoriP51172.

Organism-specific databases

HPAiCAB009540.
HPA026884.

Interactioni

Subunit structurei

Probable heterotrimer containing one alpha, one beta and one gamma subunit. A delta subunit can replace the alpha subunit.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
COMMD1Q8N6683EBI-2547114,EBI-1550112

Protein-protein interaction databases

BioGridi112243. 4 interactions.
IntActiP51172. 1 interaction.
STRINGi9606.ENSP00000321594.

Structurei

3D structure databases

ProteinModelPortaliP51172.
SMRiP51172. Positions 250-548.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG254914.
HOGENOMiHOG000236286.
HOVERGENiHBG058435.
KOiK04826.
PhylomeDBiP51172.

Family and domain databases

InterProiIPR004724. EnaC.
IPR001873. Na+channel_ASC.
IPR020903. Na+channel_ASC_CS.
[Graphical view]
PANTHERiPTHR11690. PTHR11690. 1 hit.
PfamiPF00858. ASC. 1 hit.
[Graphical view]
PRINTSiPR01078. AMINACHANNEL.
TIGRFAMsiTIGR00859. ENaC. 1 hit.
PROSITEiPS01206. ASC. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P51172-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MAEHRSMDGR MEAATRGGSH LQAAAQTPPR PGPPSAPPPP PKEGHQEGLV    50
ELPASFRELL TFFCTNATIH GAIRLVCSRG NRLKTTSWGL LSLGALVALC 100
WQLGLLFERH WHRPVLMAVS VHSERKLLPL VTLCDGNPRR PSPVLRHLEL 150
LDEFARENID SLYNVNLSKG RAALSATVPR HEPPFHLDRE IRLQRLSHSG 200
SRVRVGFRLC NSTGGDCFYR GYTSGVAAVQ DWYHFHYVDI LALLPAAWED 250
SHGSQDGHFV LSCSYDGLDC QARQFRTFHH PTYGSCYTVD GVWTAQRPGI 300
THGVGLVLRV EQQPHLPLLS TLAGIRVMVH GRNHTPFLGH HSFSVRPGTE 350
ATISIREDEV HRLGSPYGHC TAGGEGVEVE LLHNTSYTRQ ACLVSCFQQL 400
MVETCSCGYY LHPLPAGAEY CSSARHPAWG HCFYRLYQDL ETHRLPCTSR 450
CPRPCRESAF KLSTGTSRWP SAKSAGWTLA TLGEQGLPHQ SHRQRSSLAK 500
INIVYQELNY RSVEEAPVYS VPQLLSAMGS LCSLWFGASV LSLLELLELL 550
LDASALTLVL GGRRLRRAWF SWPRASPASG ASSIKPEASQ MPPPAGGTSD 600
DPEPSGPHLP RVMLPGVLAG VSAEESWAGP QPLETLDT 638
Length:638
Mass (Da):70,215
Last modified:October 17, 2006 - v2
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:
     1-21: MAEHRSMDGRMEAATRGGSHL → MAFLSRTSPV...TQHNAACKQG

Note: Channels including isoform 2 exhibit greater conductance than those containing isoform 1.

Show »
Length:704
Mass (Da):77,442
Checksum:i064ABE9A4EDDF84D
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti180 – 1801R → P.1 Publication
Corresponds to variant rs11260579 [ dbSNP | Ensembl ].
VAR_028209
Natural varianti380 – 3801E → Q.1 Publication
Corresponds to variant rs2228579 [ dbSNP | Ensembl ].
VAR_028210
Natural varianti472 – 4721A → T.
Corresponds to variant rs13306651 [ dbSNP | Ensembl ].
VAR_028211
Natural varianti532 – 5321C → Y.3 Publications
Corresponds to variant rs1053844 [ dbSNP | Ensembl ].
VAR_028212
Natural varianti562 – 5621G → S.1 Publication
Corresponds to variant rs6690013 [ dbSNP | Ensembl ].
VAR_028213
Natural varianti606 – 6061G → R.1 Publication
Corresponds to variant rs609805 [ dbSNP | Ensembl ].
VAR_028214

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 2121MAEHR…GGSHL → MAFLSRTSPVAAASFQSRQE ARGSILLQSCQLPPQWLSTE AWTGEWKQPHGGALTSRSPG PVAPQRPCHLKGWQHRPTQH NAACKQG in isoform 2.
VSP_007725Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti46 – 461Q → R in ABI64069. 1 Publication
Sequence conflicti260 – 2601V → A in ABI64069. 1 Publication
Sequence conflicti280 – 2801H → Y in BAC04105. 1 Publication
Sequence conflicti433 – 4331F → L in BAC04105. 1 Publication
Isoform 2 (identifier: P51172-2)
Sequence conflicti78 – 781T → A in ABI64069. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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. Translation: CAI23261.1.
AL162741 Genomic DNA. Translation: CAI23262.1.
BC036752 mRNA. Translation: AAH36752.1.
BC125074 mRNA. Translation: AAI25075.1.
PIRiI39196.
RefSeqiNP_001123885.2. NM_001130413.3.
UniGeneiHs.512681.

Genome annotation databases

EnsembliENST00000325425; ENSP00000321594; ENSG00000162572. [P51172-2]
ENST00000338555; ENSP00000339504; ENSG00000162572. [P51172-1]
ENST00000400928; ENSP00000383717; ENSG00000162572. [P51172-1]
GeneIDi6339.
KEGGihsa:6339.
UCSCiuc001adu.1. human. [P51172-1]
uc001adw.2. human. [P51172-2]

Polymorphism databases

DMDMi116242784.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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. Translation: CAI23261.1 .
AL162741 Genomic DNA. Translation: CAI23262.1 .
BC036752 mRNA. Translation: AAH36752.1 .
BC125074 mRNA. Translation: AAI25075.1 .
PIRi I39196.
RefSeqi NP_001123885.2. NM_001130413.3.
UniGenei Hs.512681.

3D structure databases

ProteinModelPortali P51172.
SMRi P51172. Positions 250-548.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112243. 4 interactions.
IntActi P51172. 1 interaction.
STRINGi 9606.ENSP00000321594.

Chemistry

DrugBanki DB00594. Amiloride.
DB00384. Triamterene.

PTM databases

PhosphoSitei P51172.

Polymorphism databases

DMDMi 116242784.

Proteomic databases

PaxDbi P51172.
PRIDEi P51172.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000325425 ; ENSP00000321594 ; ENSG00000162572 . [P51172-2 ]
ENST00000338555 ; ENSP00000339504 ; ENSG00000162572 . [P51172-1 ]
ENST00000400928 ; ENSP00000383717 ; ENSG00000162572 . [P51172-1 ]
GeneIDi 6339.
KEGGi hsa:6339.
UCSCi uc001adu.1. human. [P51172-1 ]
uc001adw.2. human. [P51172-2 ]

Organism-specific databases

CTDi 6339.
GeneCardsi GC01P001215.
H-InvDB HIX0000018.
HGNCi HGNC:10601. SCNN1D.
HPAi CAB009540.
HPA026884.
MIMi 601328. gene.
neXtProti NX_P51172.
PharmGKBi PA35011.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG254914.
HOGENOMi HOG000236286.
HOVERGENi HBG058435.
KOi K04826.
PhylomeDBi P51172.

Enzyme and pathway databases

Reactomei REACT_160189. Stimuli-sensing channels.

Miscellaneous databases

GeneWikii SCNN1D.
GenomeRNAii 6339.
NextBioi 24616.
PROi P51172.
SOURCEi Search...

Gene expression databases

ArrayExpressi P51172.
Bgeei P51172.
CleanExi HS_SCNN1D.
Genevestigatori P51172.

Family and domain databases

InterProi IPR004724. EnaC.
IPR001873. Na+channel_ASC.
IPR020903. Na+channel_ASC_CS.
[Graphical view ]
PANTHERi PTHR11690. PTHR11690. 1 hit.
Pfami PF00858. ASC. 1 hit.
[Graphical view ]
PRINTSi PR01078. AMINACHANNEL.
TIGRFAMsi TIGR00859. ENaC. 1 hit.
PROSITEi PS01206. ASC. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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).

Entry informationi

Entry nameiSCNND_HUMAN
AccessioniPrimary (citable) accession number: P51172
Secondary accession number(s): A9Z1X6
, B1PS44, Q08AQ3, Q09HT0, Q5T7L3, Q8NA24
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 17, 2006
Last modified: September 3, 2014
This is version 132 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  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

External Data

Dasty 3

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