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Acid-sensing ion channel 4 (ASIC4) (Amiloride-sensitive cation channel 4) (Amiloride-sensitive cation channel 4, pituitary)

 ASIC4_HUMAN             Reviewed;         647 AA.
Q96FT7; Q53SB7; Q6GMS1; Q6PIN9; Q9NQA4;
13-SEP-2005, integrated into UniProtKB/Swiss-Prot.
18-MAY-2010, sequence version 2.
20-JUN-2018, entry version 130.
RecName: Full=Acid-sensing ion channel 4;
Short=ASIC4;
AltName: Full=Amiloride-sensitive cation channel 4;
AltName: Full=Amiloride-sensitive cation channel 4, pituitary;
Name=ASIC4; Synonyms=ACCN4;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], TISSUE SPECIFICITY, MUTAGENESIS OF
GLY-549, FUNCTION, AND VARIANTS LEU-616 AND ALA-619.
TISSUE=Pituitary;
PubMed=10852210; DOI=10.1097/00001756-200006050-00003;
Gruender S., Geisler H.-S., Baessler E.-L., Ruppersberg J.P.;
"A new member of acid-sensing ion channels from pituitary gland.";
NeuroReport 11:1607-1611(2000).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15815621; DOI=10.1038/nature03466;
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.;
"Generation and annotation of the DNA sequences of human chromosomes 2
and 4.";
Nature 434:724-731(2005).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND
VARIANTS LEU-616 AND ALA-619.
TISSUE=Brain;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[4]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 95-647, AND VARIANTS LEU-616 AND
ALA-619.
PubMed=11571555; DOI=10.1038/sj.ejhg.5200699;
Gruender S., Geisler H.-S., Rainier S., Fink J.K.;
"Acid-sensing ion channel (ASIC) 4 gene: physical mapping, genomic
organisation, and evaluation as a candidate for paroxysmal dystonia.";
Eur. J. Hum. Genet. 9:672-676(2001).
-!- FUNCTION: Probable cation channel with high affinity for sodium.
In vitro, has no proton-gated channel activity.
{ECO:0000269|PubMed:10852210}.
-!- SUBUNIT: Homotrimer or heterotrimer with other ASIC proteins.
{ECO:0000250}.
-!- SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Multi-pass membrane
protein {ECO:0000250}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=3;
Name=1;
IsoId=Q96FT7-1; Sequence=Displayed;
Note=No experimental confirmation available.;
Name=2;
IsoId=Q96FT7-2; Sequence=VSP_015609, VSP_015610;
Note=No experimental confirmation available.;
Name=3;
IsoId=Q96FT7-4; Sequence=VSP_015611;
-!- TISSUE SPECIFICITY: Expressed in pituitary gland. Weakly expressed
in brain, vestibular system and organ of Corti.
{ECO:0000269|PubMed:10852210}.
-!- SIMILARITY: Belongs to the amiloride-sensitive sodium channel (TC
1.A.6) family. ASIC4 subfamily. {ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=CAB93980.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Sequence=CAC51338.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
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EMBL; AJ271643; CAB93980.1; ALT_INIT; Genomic_DNA.
EMBL; AC009955; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AC053503; AAY15054.1; -; Genomic_DNA.
EMBL; AC139723; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC010439; AAH10439.1; -; mRNA.
EMBL; BC031812; AAH31812.1; -; mRNA.
EMBL; AJ408881; CAC51338.1; ALT_INIT; Genomic_DNA.
EMBL; AJ408882; CAC51338.1; JOINED; Genomic_DNA.
EMBL; AJ408883; CAC51338.1; JOINED; Genomic_DNA.
EMBL; AJ408884; CAC51338.1; JOINED; Genomic_DNA.
CCDS; CCDS2442.1; -. [Q96FT7-1]
RefSeq; NP_061144.3; NM_018674.5. [Q96FT7-4]
RefSeq; NP_878267.2; NM_182847.2. [Q96FT7-1]
UniGene; Hs.87469; -.
ProteinModelPortal; Q96FT7; -.
SMR; Q96FT7; -.
BioGrid; 120693; 45.
IntAct; Q96FT7; 3.
STRING; 9606.ENSP00000326627; -.
iPTMnet; Q96FT7; -.
PhosphoSitePlus; Q96FT7; -.
BioMuta; ASIC4; -.
DMDM; 296434387; -.
PaxDb; Q96FT7; -.
PRIDE; Q96FT7; -.
ProteomicsDB; 76552; -.
ProteomicsDB; 76553; -. [Q96FT7-2]
ProteomicsDB; 76554; -. [Q96FT7-4]
DNASU; 55515; -.
Ensembl; ENST00000347842; ENSP00000326627; ENSG00000072182. [Q96FT7-1]
Ensembl; ENST00000358078; ENSP00000350786; ENSG00000072182. [Q96FT7-4]
GeneID; 55515; -.
KEGG; hsa:55515; -.
UCSC; uc002vma.4; human. [Q96FT7-1]
CTD; 55515; -.
DisGeNET; 55515; -.
EuPathDB; HostDB:ENSG00000072182.12; -.
GeneCards; ASIC4; -.
H-InvDB; HIX0002867; -.
HGNC; HGNC:21263; ASIC4.
MIM; 606715; gene.
neXtProt; NX_Q96FT7; -.
OpenTargets; ENSG00000072182; -.
PharmGKB; PA134956731; -.
eggNOG; KOG4294; Eukaryota.
eggNOG; ENOG410ZNFK; LUCA.
GeneTree; ENSGT00760000119120; -.
HOGENOM; HOG000247010; -.
HOVERGEN; HBG004150; -.
InParanoid; Q96FT7; -.
KO; K04831; -.
OMA; ICNMNQV; -.
OrthoDB; EOG091G053J; -.
PhylomeDB; Q96FT7; -.
TreeFam; TF330663; -.
Reactome; R-HSA-2672351; Stimuli-sensing channels.
ChiTaRS; ASIC4; human.
GeneWiki; ACCN4; -.
GenomeRNAi; 55515; -.
PRO; PR:Q96FT7; -.
Proteomes; UP000005640; Chromosome 2.
Bgee; ENSG00000072182; -.
CleanEx; HS_ACCN4; -.
Genevisible; Q96FT7; HS.
GO; GO:0005887; C:integral component of plasma membrane; TAS:ProtInc.
GO; GO:0005216; F:ion channel activity; TAS:ProtInc.
GO; GO:0005272; F:sodium channel activity; IEA:UniProtKB-KW.
GO; GO:0015081; F:sodium ion transmembrane transporter activity; TAS:ProtInc.
GO; GO:0001662; P:behavioral fear response; IEA:Ensembl.
InterPro; IPR001873; ENaC.
InterPro; IPR020903; ENaC_CS.
PANTHER; PTHR11690; PTHR11690; 1.
Pfam; PF00858; ASC; 1.
PRINTS; PR01078; AMINACHANNEL.
PROSITE; PS01206; ASC; 1.
1: Evidence at protein level;
Alternative splicing; Complete proteome; Disulfide bond; Glycoprotein;
Ion channel; Ion transport; Membrane; Polymorphism;
Reference proteome; Sodium; Sodium channel; Sodium transport;
Transmembrane; Transmembrane helix; Transport.
CHAIN 1 647 Acid-sensing ion channel 4.
/FTId=PRO_0000181304.
TOPO_DOM 128 195 Cytoplasmic. {ECO:0000255}.
TRANSMEM 196 216 Helical. {ECO:0000255}.
TOPO_DOM 217 546 Extracellular. {ECO:0000255}.
TRANSMEM 547 567 Helical. {ECO:0000255}.
TOPO_DOM 568 647 Cytoplasmic. {ECO:0000255}.
CARBOHYD 318 318 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 370 370 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 484 484 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
DISULFID 245 329 {ECO:0000250}.
DISULFID 307 314 {ECO:0000250}.
DISULFID 423 483 {ECO:0000250}.
DISULFID 445 479 {ECO:0000250}.
DISULFID 449 477 {ECO:0000250}.
VAR_SEQ 413 417 LTYLP -> VSISC (in isoform 2).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_015609.
VAR_SEQ 418 647 Missing (in isoform 2).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_015610.
VAR_SEQ 466 466 P -> PGNETICPPNIYIECADHTL (in isoform 3).
{ECO:0000305}.
/FTId=VSP_015611.
VARIANT 614 614 P -> Q (in dbSNP:rs6436153).
/FTId=VAR_052038.
VARIANT 616 616 R -> L (in dbSNP:rs11689281).
{ECO:0000269|PubMed:10852210,
ECO:0000269|PubMed:11571555,
ECO:0000269|PubMed:15489334}.
/FTId=VAR_052039.
VARIANT 619 619 V -> A (in dbSNP:rs11695248).
{ECO:0000269|PubMed:10852210,
ECO:0000269|PubMed:11571555,
ECO:0000269|PubMed:15489334}.
/FTId=VAR_059806.
MUTAGEN 549 549 G->A: No effect on channel function.
{ECO:0000269|PubMed:10852210}.
SEQUENCE 647 AA; 70105 MW; 041217169E5A15CF CRC64;
MLSGAAGAAR RGGAALAPSL TRSLAGTHAG ADSCAGADKG SHKETIEERD KRQQRQQRQR
QHQGCGAAGS GSDSPTSGPH PVPVLFPLAL SLEEQPLPPL PLGRAPGLLA REGQGREALA
SPSSRGQMPI EIVCKIKFAE EDAKPKEKEA GDEQSLLGAV APGAAPRDLA TFASTSTLHG
LGRACGPGPH GLRRTLWALA LLTSLAAFLY QAAGLARGYL TRPHLVAMDP AAPAPVAGFP
AVTLCNINRF RHSALSDADI FHLANLTGLP PKDRDGHRAA GLRYPEPDMV DILNRTGHQL
ADMLKSCNFS GHHCSASNFS VVYTRYGKCY TFNADPRSSL PSRAGGMGSG LEIMLDIQQE
EYLPIWRETN ETSFEAGIRV QIHSQEEPPY IHQLGFGVSP GFQTFVSCQE QRLTYLPQPW
GNCRAESELR EPELQGYSAY SVSACRLRCE KEAVLQRCHC RMVHMPDSLG GGPEGPCFCP
TPCNLTRYGK EISMVRIPNR GSARYLARKY NRNETYIREN FLVLDVFFEA LTSEAMEQRA
AYGLSALLGD LGGQMGLFIG ASILTLLEIL DYIYEVSWDR LKRVWRRPKT PLRTSTGGIS
TLGLQELKEQ SPCPSRGRVE GGGVSSLLPN HHHPHGPPGG LFEDFAC


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