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Protein

Acid-sensing ion channel 4

Gene

ASIC4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Probable cation channel with high affinity for sodium. In vitro, has no proton-gated channel activity.1 Publication

GO - Molecular functioni

  1. ion channel activity Source: ProtInc
  2. sodium channel activity Source: UniProtKB-KW
  3. sodium ion transmembrane transporter activity Source: ProtInc

GO - Biological processi

  1. ion transmembrane transport Source: GOC
  2. sodium ion transmembrane transport Source: GOC
  3. transport Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Sodium channel

Keywords - Biological processi

Ion transport, Sodium transport, Transport

Keywords - Ligandi

Sodium

Enzyme and pathway databases

ReactomeiREACT_160189. Stimuli-sensing channels.

Names & Taxonomyi

Protein namesi
Recommended name:
Acid-sensing ion channel 4
Short name:
ASIC4
Alternative name(s):
Amiloride-sensitive cation channel 4
Amiloride-sensitive cation channel 4, pituitary
Gene namesi
Name:ASIC4
Synonyms:ACCN4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:21263. ASIC4.

Subcellular locationi

  1. Membrane By similarity; Multi-pass membrane protein By similarity

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini128 – 19568CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei196 – 21621HelicalSequence AnalysisAdd
BLAST
Topological domaini217 – 546330ExtracellularSequence AnalysisAdd
BLAST
Transmembranei547 – 56721HelicalSequence AnalysisAdd
BLAST
Topological domaini568 – 64780CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of plasma membrane Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi549 – 5491G → A: No effect on channel function. 1 Publication

Organism-specific databases

PharmGKBiPA134956731.

Polymorphism and mutation databases

BioMutaiASIC4.
DMDMi296434387.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 647647Acid-sensing ion channel 4PRO_0000181304Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi245 ↔ 329By similarity
Disulfide bondi307 ↔ 314By similarity
Glycosylationi318 – 3181N-linked (GlcNAc...)Sequence Analysis
Glycosylationi370 – 3701N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi423 ↔ 483By similarity
Disulfide bondi445 ↔ 479By similarity
Disulfide bondi449 ↔ 477By similarity
Glycosylationi484 – 4841N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ96FT7.
PRIDEiQ96FT7.

PTM databases

PhosphoSiteiQ96FT7.

Expressioni

Tissue specificityi

Expressed in pituitary gland. Weakly expressed in brain, vestibular system and organ of Corti.1 Publication

Gene expression databases

BgeeiQ96FT7.
CleanExiHS_ACCN4.
GenevestigatoriQ96FT7.

Organism-specific databases

HPAiCAB032529.
HPA036042.

Interactioni

Subunit structurei

Homotrimer or heterotrimer with other ASIC proteins.By similarity

Protein-protein interaction databases

BioGridi120693. 1 interaction.
IntActiQ96FT7. 2 interactions.
STRINGi9606.ENSP00000350786.

Structurei

3D structure databases

ProteinModelPortaliQ96FT7.
SMRiQ96FT7. Positions 192-576.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG304301.
GeneTreeiENSGT00760000119120.
HOGENOMiHOG000247010.
HOVERGENiHBG004150.
InParanoidiQ96FT7.
KOiK04831.
OMAiNCRAESG.
OrthoDBiEOG72VH5P.
PhylomeDBiQ96FT7.
TreeFamiTF330663.

Family and domain databases

InterProiIPR001873. Na+channel_ASC.
IPR020903. Na+channel_ASC_CS.
[Graphical view]
PANTHERiPTHR11690. PTHR11690. 1 hit.
PfamiPF00858. ASC. 1 hit.
[Graphical view]
PRINTSiPR01078. AMINACHANNEL.
PROSITEiPS01206. ASC. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96FT7-1) [UniParc]FASTAAdd to basket

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

        10         20         30         40         50
MLSGAAGAAR RGGAALAPSL TRSLAGTHAG ADSCAGADKG SHKETIEERD
60 70 80 90 100
KRQQRQQRQR QHQGCGAAGS GSDSPTSGPH PVPVLFPLAL SLEEQPLPPL
110 120 130 140 150
PLGRAPGLLA REGQGREALA SPSSRGQMPI EIVCKIKFAE EDAKPKEKEA
160 170 180 190 200
GDEQSLLGAV APGAAPRDLA TFASTSTLHG LGRACGPGPH GLRRTLWALA
210 220 230 240 250
LLTSLAAFLY QAAGLARGYL TRPHLVAMDP AAPAPVAGFP AVTLCNINRF
260 270 280 290 300
RHSALSDADI FHLANLTGLP PKDRDGHRAA GLRYPEPDMV DILNRTGHQL
310 320 330 340 350
ADMLKSCNFS GHHCSASNFS VVYTRYGKCY TFNADPRSSL PSRAGGMGSG
360 370 380 390 400
LEIMLDIQQE EYLPIWRETN ETSFEAGIRV QIHSQEEPPY IHQLGFGVSP
410 420 430 440 450
GFQTFVSCQE QRLTYLPQPW GNCRAESELR EPELQGYSAY SVSACRLRCE
460 470 480 490 500
KEAVLQRCHC RMVHMPDSLG GGPEGPCFCP TPCNLTRYGK EISMVRIPNR
510 520 530 540 550
GSARYLARKY NRNETYIREN FLVLDVFFEA LTSEAMEQRA AYGLSALLGD
560 570 580 590 600
LGGQMGLFIG ASILTLLEIL DYIYEVSWDR LKRVWRRPKT PLRTSTGGIS
610 620 630 640
TLGLQELKEQ SPCPSRGRVE GGGVSSLLPN HHHPHGPPGG LFEDFAC

Note: No experimental confirmation available.

Length:647
Mass (Da):70,105
Last modified:May 18, 2010 - v2
Checksum:i041217169E5A15CF
GO
Isoform 2 (identifier: Q96FT7-2) [UniParc]FASTAAdd to basket

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

Note: No experimental confirmation available.

Show »
Length:417
Mass (Da):44,361
Checksum:iF21C8D9D13ED714C
GO
Isoform 3 (identifier: Q96FT7-4) [UniParc]FASTAAdd to basket

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

Show »
Length:666
Mass (Da):72,190
Checksum:iE9740F1E300D40BA
GO

Sequence cautioni

The sequence CAB93980.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAC51338.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti614 – 6141P → Q.
Corresponds to variant rs6436153 [ dbSNP | Ensembl ].
VAR_052038
Natural varianti616 – 6161R → L.3 Publications
Corresponds to variant rs11689281 [ dbSNP | Ensembl ].
VAR_052039
Natural varianti619 – 6191V → A.3 Publications
Corresponds to variant rs11695248 [ dbSNP | Ensembl ].
VAR_059806

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei413 – 4175LTYLP → VSISC in isoform 2. 1 PublicationVSP_015609
Alternative sequencei418 – 647230Missing in isoform 2. 1 PublicationVSP_015610Add
BLAST
Alternative sequencei466 – 4661P → PGNETICPPNIYIECADHTL in isoform 3. CuratedVSP_015611

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS2442.1. [Q96FT7-1]
RefSeqiNP_878267.2. NM_182847.2. [Q96FT7-1]
XP_005246728.2. XM_005246671.2.
UniGeneiHs.87469.

Genome annotation databases

EnsembliENST00000347842; ENSP00000326627; ENSG00000072182. [Q96FT7-1]
ENST00000358078; ENSP00000350786; ENSG00000072182. [Q96FT7-4]
GeneIDi55515.
KEGGihsa:55515.
UCSCiuc002vly.2. human. [Q96FT7-2]
uc002vma.3. human. [Q96FT7-1]
uc010fwi.2. human. [Q96FT7-4]

Polymorphism and mutation databases

BioMutaiASIC4.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS2442.1. [Q96FT7-1]
RefSeqiNP_878267.2. NM_182847.2. [Q96FT7-1]
XP_005246728.2. XM_005246671.2.
UniGeneiHs.87469.

3D structure databases

ProteinModelPortaliQ96FT7.
SMRiQ96FT7. Positions 192-576.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120693. 1 interaction.
IntActiQ96FT7. 2 interactions.
STRINGi9606.ENSP00000350786.

PTM databases

PhosphoSiteiQ96FT7.

Polymorphism and mutation databases

BioMutaiASIC4.
DMDMi296434387.

Proteomic databases

PaxDbiQ96FT7.
PRIDEiQ96FT7.

Protocols and materials databases

DNASUi55515.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000347842; ENSP00000326627; ENSG00000072182. [Q96FT7-1]
ENST00000358078; ENSP00000350786; ENSG00000072182. [Q96FT7-4]
GeneIDi55515.
KEGGihsa:55515.
UCSCiuc002vly.2. human. [Q96FT7-2]
uc002vma.3. human. [Q96FT7-1]
uc010fwi.2. human. [Q96FT7-4]

Organism-specific databases

CTDi55515.
GeneCardsiGC02P220378.
H-InvDBHIX0002867.
HGNCiHGNC:21263. ASIC4.
HPAiCAB032529.
HPA036042.
MIMi606715. gene.
neXtProtiNX_Q96FT7.
PharmGKBiPA134956731.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG304301.
GeneTreeiENSGT00760000119120.
HOGENOMiHOG000247010.
HOVERGENiHBG004150.
InParanoidiQ96FT7.
KOiK04831.
OMAiNCRAESG.
OrthoDBiEOG72VH5P.
PhylomeDBiQ96FT7.
TreeFamiTF330663.

Enzyme and pathway databases

ReactomeiREACT_160189. Stimuli-sensing channels.

Miscellaneous databases

ChiTaRSiASIC4. human.
GeneWikiiACCN4.
GenomeRNAii55515.
NextBioi59930.
PROiQ96FT7.
SOURCEiSearch...

Gene expression databases

BgeeiQ96FT7.
CleanExiHS_ACCN4.
GenevestigatoriQ96FT7.

Family and domain databases

InterProiIPR001873. Na+channel_ASC.
IPR020903. Na+channel_ASC_CS.
[Graphical view]
PANTHERiPTHR11690. PTHR11690. 1 hit.
PfamiPF00858. ASC. 1 hit.
[Graphical view]
PRINTSiPR01078. AMINACHANNEL.
PROSITEiPS01206. ASC. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 95-647, VARIANTS LEU-616 AND ALA-619.

Entry informationi

Entry nameiASIC4_HUMAN
AccessioniPrimary (citable) accession number: Q96FT7
Secondary accession number(s): Q53SB7
, Q6GMS1, Q6PIN9, Q9NQA4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 13, 2005
Last sequence update: May 18, 2010
Last modified: April 29, 2015
This is version 108 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 2
    Human chromosome 2: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.