Q96FT7 (ACCN4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Amiloride-sensitive cation channel 4

Alternative name(s):
Acid-sensing ion channel 4
Short name=ASIC4
Amiloride-sensitive cation channel 4, pituitary

Gene names

Name:	ACCN4
Synonyms:	ASIC4

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	647 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Probable cation channel with high affinity for sodium. In vitro, has no proton-gated channel activity. Ref.1
Subunit structure	Homotrimer or heterotrimer with other ASIC proteins By similarity.
Subcellular location	Membrane; Multi-pass membrane protein By similarity.
Tissue specificity	Expressed in pituitary gland. Weakly expressed in brain, vestibular system and organ of Corti. Ref.1
Sequence similarities	Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. ACCN4 subfamily. [View classification]
Sequence caution	The sequence CAB93980.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence CAC51338.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
Biological process	Ion transport Sodium transport Transport
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
Ligand	Sodium
Molecular function	Ionic channel Sodium channel
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	integral to plasma membrane Traceable author statement. Source: ProtInc
Molecular function	sodium channel activity Inferred from electronic annotation. Source: UniProtKB-KW sodium ion transmembrane transporter activity Traceable author statement. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q96FT7-1)

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.

Note: No experimental confirmation available.

Isoform 2 (identifier: Q96FT7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     413-417: LTYLP → VSISC
     418-647: Missing.

Note: No experimental confirmation available.

Isoform 3 (identifier: Q96FT7-4)

The sequence of this isoform differs from the canonical sequence as follows:
     466-466: P → PGNETICPPNIYIECADHTL

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 647	647	Amiloride-sensitive cation channel 4		PRO_0000181304
Regions
	Topological domain	128 – 195	68	Cytoplasmic Potential
	Transmembrane	196 – 216	21	Helical; Potential
	Topological domain	217 – 546	330	Extracellular Potential
	Transmembrane	547 – 567	21	Helical; Potential
	Topological domain	568 – 647	80	Cytoplasmic Potential
Amino acid modifications
	Glycosylation	318	1	N-linked (GlcNAc...) Potential
	Glycosylation	370	1	N-linked (GlcNAc...) Potential
	Glycosylation	484	1	N-linked (GlcNAc...) Potential
	Disulfide bond	245 ↔ 329		By similarity
	Disulfide bond	307 ↔ 314		By similarity
	Disulfide bond	423 ↔ 483		By similarity
	Disulfide bond	445 ↔ 479		By similarity
	Disulfide bond	449 ↔ 477		By similarity
Natural variations
	Alternative sequence	413 – 417	5	LTYLP → VSISC in isoform 2.		VSP_015609
	Alternative sequence	418 – 647	230	Missing in isoform 2.		VSP_015610
	Alternative sequence	466	1	P → PGNETICPPNIYIECADHTL in isoform 3.		VSP_015611
	Natural variant	614	1	P → Q. Corresponds to variant rs6436153 [ dbSNP | Ensembl ].		VAR_052038
	Natural variant	616	1	R → L. Ref.1 Ref.3 Ref.4 Corresponds to variant rs11689281 [ dbSNP | Ensembl ].		VAR_052039
	Natural variant	619	1	V → A. Ref.1 Ref.3 Ref.4 Corresponds to variant rs11695248 [ dbSNP | Ensembl ].		VAR_059806
Experimental info
	Mutagenesis	549	1	G → A: No effect on channel function. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 18, 2010. Version 2. Checksum: 041217169E5A15CF	FASTA	647	70,105
	10 20 30 40 50 60 MLSGAAGAAR RGGAALAPSL TRSLAGTHAG ADSCAGADKG SHKETIEERD KRQQRQQRQR 70 80 90 100 110 120 QHQGCGAAGS GSDSPTSGPH PVPVLFPLAL SLEEQPLPPL PLGRAPGLLA REGQGREALA 130 140 150 160 170 180 SPSSRGQMPI EIVCKIKFAE EDAKPKEKEA GDEQSLLGAV APGAAPRDLA TFASTSTLHG 190 200 210 220 230 240 LGRACGPGPH GLRRTLWALA LLTSLAAFLY QAAGLARGYL TRPHLVAMDP AAPAPVAGFP 250 260 270 280 290 300 AVTLCNINRF RHSALSDADI FHLANLTGLP PKDRDGHRAA GLRYPEPDMV DILNRTGHQL 310 320 330 340 350 360 ADMLKSCNFS GHHCSASNFS VVYTRYGKCY TFNADPRSSL PSRAGGMGSG LEIMLDIQQE 370 380 390 400 410 420 EYLPIWRETN ETSFEAGIRV QIHSQEEPPY IHQLGFGVSP GFQTFVSCQE QRLTYLPQPW 430 440 450 460 470 480 GNCRAESELR EPELQGYSAY SVSACRLRCE KEAVLQRCHC RMVHMPDSLG GGPEGPCFCP 490 500 510 520 530 540 TPCNLTRYGK EISMVRIPNR GSARYLARKY NRNETYIREN FLVLDVFFEA LTSEAMEQRA 550 560 570 580 590 600 AYGLSALLGD LGGQMGLFIG ASILTLLEIL DYIYEVSWDR LKRVWRRPKT PLRTSTGGIS 610 620 630 640 TLGLQELKEQ SPCPSRGRVE GGGVSSLLPN HHHPHGPPGG LFEDFAC
	Isoform 2 [UniParc]. Checksum: F21C8D9D13ED714C	FASTA	417	44,361
	10 20 30 40 50 60 MLSGAAGAAR RGGAALAPSL TRSLAGTHAG ADSCAGADKG SHKETIEERD KRQQRQQRQR 70 80 90 100 110 120 QHQGCGAAGS GSDSPTSGPH PVPVLFPLAL SLEEQPLPPL PLGRAPGLLA REGQGREALA 130 140 150 160 170 180 SPSSRGQMPI EIVCKIKFAE EDAKPKEKEA GDEQSLLGAV APGAAPRDLA TFASTSTLHG 190 200 210 220 230 240 LGRACGPGPH GLRRTLWALA LLTSLAAFLY QAAGLARGYL TRPHLVAMDP AAPAPVAGFP 250 260 270 280 290 300 AVTLCNINRF RHSALSDADI FHLANLTGLP PKDRDGHRAA GLRYPEPDMV DILNRTGHQL 310 320 330 340 350 360 ADMLKSCNFS GHHCSASNFS VVYTRYGKCY TFNADPRSSL PSRAGGMGSG LEIMLDIQQE 370 380 390 400 410 EYLPIWRETN ETSFEAGIRV QIHSQEEPPY IHQLGFGVSP GFQTFVSCQE QRVSISC
	Isoform 3 [UniParc]. Checksum: E9740F1E300D40BA	FASTA	666	72,190
	10 20 30 40 50 60 MLSGAAGAAR RGGAALAPSL TRSLAGTHAG ADSCAGADKG SHKETIEERD KRQQRQQRQR 70 80 90 100 110 120 QHQGCGAAGS GSDSPTSGPH PVPVLFPLAL SLEEQPLPPL PLGRAPGLLA REGQGREALA 130 140 150 160 170 180 SPSSRGQMPI EIVCKIKFAE EDAKPKEKEA GDEQSLLGAV APGAAPRDLA TFASTSTLHG 190 200 210 220 230 240 LGRACGPGPH GLRRTLWALA LLTSLAAFLY QAAGLARGYL TRPHLVAMDP AAPAPVAGFP 250 260 270 280 290 300 AVTLCNINRF RHSALSDADI FHLANLTGLP PKDRDGHRAA GLRYPEPDMV DILNRTGHQL 310 320 330 340 350 360 ADMLKSCNFS GHHCSASNFS VVYTRYGKCY TFNADPRSSL PSRAGGMGSG LEIMLDIQQE 370 380 390 400 410 420 EYLPIWRETN ETSFEAGIRV QIHSQEEPPY IHQLGFGVSP GFQTFVSCQE QRLTYLPQPW 430 440 450 460 470 480 GNCRAESELR EPELQGYSAY SVSACRLRCE KEAVLQRCHC RMVHMPGNET ICPPNIYIEC 490 500 510 520 530 540 ADHTLDSLGG GPEGPCFCPT PCNLTRYGKE ISMVRIPNRG SARYLARKYN RNETYIRENF 550 560 570 580 590 600 LVLDVFFEAL TSEAMEQRAA YGLSALLGDL GGQMGLFIGA SILTLLEILD YIYEVSWDRL 610 620 630 640 650 660 KRVWRRPKTP LRTSTGGIST LGLQELKEQS PCPSRGRVEG GGVSSLLPNH HHPHGPPGGL FEDFAC

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A new member of acid-sensing ion channels from pituitary gland." Gruender S., Geisler H.-S., Baessler E.-L., Ruppersberg J.P. NeuroReport 11:1607-1611(2000) [PubMed: 10852210] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], TISSUE SPECIFICITY, MUTAGENESIS OF GLY-549, FUNCTION, VARIANTS LEU-616 AND ALA-619. Tissue: Pituitary.
[2]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed: 15815621] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"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] (ISOFORMS 1 AND 2), VARIANTS LEU-616 AND ALA-619. Tissue: Brain.
[4]	"Acid-sensing ion channel (ASIC) 4 gene: physical mapping, genomic organisation, and evaluation as a candidate for paroxysmal dystonia." Gruender S., Geisler H.-S., Rainier S., Fink J.K. Eur. J. Hum. Genet. 9:672-676(2001) [PubMed: 11571555] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 95-647, VARIANTS LEU-616 AND ALA-619.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ271643 Genomic DNA. Translation: CAB93980.1. Different initiation. AC009955 Genomic DNA. No translation available. AC053503 Genomic DNA. Translation: AAY15054.1. AC139723 Genomic DNA. No translation available. BC010439 mRNA. Translation: AAH10439.1. BC031812 mRNA. Translation: AAH31812.1. AJ408881 , AJ408882, AJ408883, AJ408884 Genomic DNA. Translation: CAC51338.1. Different initiation.
IPI	IPI00062210. IPI00183230. IPI00640354.
RefSeq	NP_061144.3. NM_018674.4. NP_878267.2. NM_182847.2.
UniGene	Hs.87469.
3D structure databases
ProteinModelPortal	Q96FT7.
SMR	Q96FT7. Positions 192-578.
ModBase	Search...
Protein-protein interaction databases
STRING	Q96FT7.
PTM databases
PhosphoSite	Q96FT7.
Polymorphism databases
DMDM	296434387.
Proteomic databases
PRIDE	Q96FT7.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000347842; ENSP00000326627; ENSG00000072182.
GeneID	55515.
KEGG	hsa:55515.
UCSC	uc002vly.1. human. uc002vma.1. human. uc002vmb.2. human.
Organism-specific databases
CTD	55515.
GeneCards	GC02P220343.
H-InvDB	HIX0002867.
HGNC	HGNC:21263. ACCN4.
HPA	CAB032529. HPA036042.
MIM	606715. gene.
neXtProt	NX_Q96FT7.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG12701.
GeneTree	ENSGT00550000074208.
HOVERGEN	HBG004150.
OMA	EISMVKI.
OrthoDB	EOG4B8JCX.
Gene expression databases
ArrayExpress	Q96FT7.
Bgee	Q96FT7.
CleanEx	HS_ACCN4.
Genevestigator	Q96FT7.
GermOnline	ENSG00000072182. Homo sapiens.
Family and domain databases
InterPro	IPR001873. Na+channel_ASC. IPR020903. Na+channel_ASC_CS. [Graphical view]
KO	K04831.
PANTHER	PTHR11690. Na+channel_ASC. 1 hit.
Pfam	PF00858. ASC. 1 hit. [Graphical view]
PRINTS	PR01078. AMINACHANNEL.
PROSITE	PS01206. ASC. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	59930.
SOURCE	Search...

Entry information

Entry name

ACCN4_HUMAN

Accession

Primary (citable) accession number: Q96FT7
Secondary accession number(s): Q53SB7 , Q6GMS1, Q6PIN9, Q9NQA4

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 13, 2005
Last sequence update:	May 18, 2010
Last modified:	January 25, 2012
This is version 78 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.