P51172 (SCNND_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	SCNN1D
Synonyms:	DNACH

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	638 AA.
Sequence status	Complete.
Protein existence	Evidence 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.
Subcellular location	Membrane; Multi-pass membrane protein.
Sequence similarities	Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1D subfamily. [View classification]

Ontologies

Keywords
Biological process	Ion transport Sensory transduction Sodium transport Taste Transport
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
Ligand	Sodium
Molecular function	Ionic channel Sodium channel
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	response to stimulus Inferred from electronic annotation. Source: UniProtKB-KW sensory perception of taste Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	ligand-gated sodium channel activity Traceable author statement. Source: ProtInc protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
COMMD1	Q8N668	3	EBI-2547114,EBI-1550112

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 638	638	Amiloride-sensitive sodium channel subunit delta		PRO_0000181282
Regions
	Topological domain	1 – 87	87	Cytoplasmic By similarity
	Transmembrane	88 – 111	24	Helical; By similarity
	Topological domain	112 – 520	409	Extracellular By similarity
	Transmembrane	521 – 551	31	Helical; By similarity
	Topological domain	552 – 638	87	Cytoplasmic By similarity
Amino acid modifications
	Glycosylation	166	1	N-linked (GlcNAc...) Potential
	Glycosylation	211	1	N-linked (GlcNAc...) Potential
	Glycosylation	384	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	1 – 21	21	MAEHR…GGSHL → MAFLSRTSPVAAASFQSRQE ARGSILLQSCQLPPQWLSTE AWTGEWKQPHGGALTSRSPG PVAPQRPCHLKGWQHRPTQH NAACKQG in isoform 2.		VSP_007725
	Natural variant	180	1	R → P. Ref.4 Corresponds to variant rs11260579 [ dbSNP | Ensembl ].		VAR_028209
	Natural variant	380	1	E → Q. Ref.4 Corresponds to variant rs2228579 [ dbSNP | Ensembl ].		VAR_028210
	Natural variant	472	1	A → T. Corresponds to variant rs13306651 [ dbSNP | Ensembl ].		VAR_028211
	Natural variant	532	1	C → Y. Ref.1 Ref.2 Ref.4 Corresponds to variant rs1053844 [ dbSNP | Ensembl ].		VAR_028212
	Natural variant	562	1	G → S. Ref.2 Corresponds to variant rs6690013 [ dbSNP | Ensembl ].		VAR_028213
	Natural variant	606	1	G → R. Ref.2 Corresponds to variant rs609805 [ dbSNP | Ensembl ].		VAR_028214
Experimental info
	Sequence conflict	280	1	H → Y in BAC04105. Ref.2
	Sequence conflict	433	1	F → L in BAC04105. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 17, 2006. Version 2. Checksum: 4BC9653E4BAB0600	FASTA	638	70,215
	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
	Isoform 2 [UniParc]. Checksum: 064ABE9A4EDDF84D	FASTA	704	77,442
	10 20 30 40 50 60 MAFLSRTSPV AAASFQSRQE ARGSILLQSC QLPPQWLSTE AWTGEWKQPH GGALTSRSPG 70 80 90 100 110 120 PVAPQRPCHL KGWQHRPTQH NAACKQGQAA AQTPPRPGPP SAPPPPPKEG HQEGLVELPA 130 140 150 160 170 180 SFRELLTFFC TNATIHGAIR LVCSRGNRLK TTSWGLLSLG ALVALCWQLG LLFERHWHRP 190 200 210 220 230 240 VLMAVSVHSE RKLLPLVTLC DGNPRRPSPV LRHLELLDEF ARENIDSLYN VNLSKGRAAL 250 260 270 280 290 300 SATVPRHEPP FHLDREIRLQ RLSHSGSRVR VGFRLCNSTG GDCFYRGYTS GVAAVQDWYH 310 320 330 340 350 360 FHYVDILALL PAAWEDSHGS QDGHFVLSCS YDGLDCQARQ FRTFHHPTYG SCYTVDGVWT 370 380 390 400 410 420 AQRPGITHGV GLVLRVEQQP HLPLLSTLAG IRVMVHGRNH TPFLGHHSFS VRPGTEATIS 430 440 450 460 470 480 IREDEVHRLG SPYGHCTAGG EGVEVELLHN TSYTRQACLV SCFQQLMVET CSCGYYLHPL 490 500 510 520 530 540 PAGAEYCSSA RHPAWGHCFY RLYQDLETHR LPCTSRCPRP CRESAFKLST GTSRWPSAKS 550 560 570 580 590 600 AGWTLATLGE QGLPHQSHRQ RSSLAKINIV YQELNYRSVE EAPVYSVPQL LSAMGSLCSL 610 620 630 640 650 660 WFGASVLSLL ELLELLLDAS ALTLVLGGRR LRRAWFSWPR ASPASGASSI KPEASQMPPP 670 680 690 700 AGGTSDDPEP SGPHLPRVML PGVLAGVSAE ESWAGPQPLE TLDT

References

	« Hide 'large scale' referencesShow '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. , 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. , 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
EMBL GenBank DDBJ	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.
IPI	IPI00334783. IPI00514599.
PIR	I39196.
RefSeq	NP_001123885.2. NM_001130413.3.
UniGene	Hs.512681.
3D structure databases
ProteinModelPortal	P51172.
ModBase	Search...
Protein-protein interaction databases
IntAct	P51172. 1 interaction.
STRING	P51172.
Polymorphism databases
DMDM	116242784.
Proteomic databases
PRIDE	P51172.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000338555; ENSP00000339504; ENSG00000162572. ENST00000400928; ENSP00000383717; ENSG00000162572.
GeneID	6339.
KEGG	hsa:6339.
UCSC	uc001adt.1. human. uc001adu.1. human.
Organism-specific databases
CTD	6339.
GeneCards	GC01P001215.
H-InvDB	HIX0000018.
HGNC	HGNC:10601. SCNN1D.
HPA	CAB009540. HPA026884.
MIM	601328. gene.
neXtProt	NX_P51172.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG18590.
HOVERGEN	HBG058435.
OMA	YQELNYR.
OrthoDB	EOG4R23V3.
Gene expression databases
ArrayExpress	P51172.
Bgee	P51172.
CleanEx	HS_SCNN1D.
Genevestigator	P51172.
GermOnline	ENSG00000162572. Homo sapiens.
Family and domain databases
InterPro	IPR004724. EnaC. IPR001873. Na+channel_ASC. IPR020903. Na+channel_ASC_CS. [Graphical view]
KO	K04826.
PANTHER	PTHR11690. Na+channel_ASC. 1 hit.
Pfam	PF00858. ASC. 1 hit. [Graphical view]
PRINTS	PR01078. AMINACHANNEL.
TIGRFAMs	TIGR00859. ENaC. 1 hit.
PROSITE	PS01206. ASC. 1 hit. [Graphical view]
ProtoNet	Search...
Other
DrugBank	DB00594. Amiloride. DB00384. Triamterene.
NextBio	24616.
SOURCE	Search...

Entry information

Entry name

SCNND_HUMAN

Accession

Primary (citable) accession number: P51172
Secondary accession number(s): A9Z1X6 , Q08AQ3, Q5T7L3, Q8NA24

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	October 17, 2006
Last modified:	January 25, 2012
This is version 108 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.