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Q96FT7 (ASIC4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 98. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Acid-sensing ion channel 4

Short name=ASIC4
Alternative name(s):
Amiloride-sensitive cation channel 4
Amiloride-sensitive cation channel 4, pituitary
Gene names
Name:ASIC4
Synonyms:ACCN4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length647 AA.
Sequence statusComplete.
Protein existenceEvidence 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. ASIC4 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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 647647Acid-sensing ion channel 4
PRO_0000181304

Regions

Topological domain128 – 19568Cytoplasmic Potential
Transmembrane196 – 21621Helical; Potential
Topological domain217 – 546330Extracellular Potential
Transmembrane547 – 56721Helical; Potential
Topological domain568 – 64780Cytoplasmic Potential

Amino acid modifications

Glycosylation3181N-linked (GlcNAc...) Potential
Glycosylation3701N-linked (GlcNAc...) Potential
Glycosylation4841N-linked (GlcNAc...) Potential
Disulfide bond245 ↔ 329 By similarity
Disulfide bond307 ↔ 314 By similarity
Disulfide bond423 ↔ 483 By similarity
Disulfide bond445 ↔ 479 By similarity
Disulfide bond449 ↔ 477 By similarity

Natural variations

Alternative sequence413 – 4175LTYLP → VSISC in isoform 2.
VSP_015609
Alternative sequence418 – 647230Missing in isoform 2.
VSP_015610
Alternative sequence4661P → PGNETICPPNIYIECADHTL in isoform 3.
VSP_015611
Natural variant6141P → Q.
Corresponds to variant rs6436153 [ dbSNP | Ensembl ].
VAR_052038
Natural variant6161R → L. Ref.1 Ref.3 Ref.4
Corresponds to variant rs11689281 [ dbSNP | Ensembl ].
VAR_052039
Natural variant6191V → A. Ref.1 Ref.3 Ref.4
Corresponds to variant rs11695248 [ dbSNP | Ensembl ].
VAR_059806

Experimental info

Mutagenesis5491G → A: No effect on channel function. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 18, 2010. Version 2.
Checksum: 041217169E5A15CF

FASTA64770,105
        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 

« Hide

Isoform 2 [UniParc].

Checksum: F21C8D9D13ED714C
Show »

FASTA41744,361
Isoform 3 [UniParc].

Checksum: E9740F1E300D40BA
Show »

FASTA66672,190

References

« Hide '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] [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. expand/collapse author list , 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.

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 expand/collapse EMBL AC list , AJ408882, AJ408883, AJ408884 Genomic DNA. Translation: CAC51338.1. Different initiation.
RefSeqNP_878267.2. NM_182847.2.
UniGeneHs.87469.

3D structure databases

ProteinModelPortalQ96FT7.
SMRQ96FT7. Positions 192-576.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000350786.

PTM databases

PhosphoSiteQ96FT7.

Polymorphism databases

DMDM296434387.

Proteomic databases

PaxDbQ96FT7.
PRIDEQ96FT7.

Protocols and materials databases

DNASU55515.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000347842; ENSP00000326627; ENSG00000072182. [Q96FT7-1]
ENST00000358078; ENSP00000350786; ENSG00000072182. [Q96FT7-4]
GeneID55515.
KEGGhsa:55515.
UCSCuc002vly.2. human. [Q96FT7-2]
uc002vma.3. human. [Q96FT7-1]
uc010fwi.2. human. [Q96FT7-4]

Organism-specific databases

CTD55515.
GeneCardsGC02P220378.
H-InvDBHIX0002867.
HGNCHGNC:21263. ASIC4.
HPACAB032529.
HPA036042.
MIM606715. gene.
neXtProtNX_Q96FT7.
PharmGKBPA134956731.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG304301.
HOGENOMHOG000247010.
HOVERGENHBG004150.
KOK04831.
OMANCRAESG.
OrthoDBEOG72VH5P.
PhylomeDBQ96FT7.
TreeFamTF330663.

Gene expression databases

BgeeQ96FT7.
CleanExHS_ACCN4.
GenevestigatorQ96FT7.

Family and domain databases

InterProIPR001873. Na+channel_ASC.
IPR020903. Na+channel_ASC_CS.
[Graphical view]
PANTHERPTHR11690. PTHR11690. 1 hit.
PfamPF00858. ASC. 1 hit.
[Graphical view]
PRINTSPR01078. AMINACHANNEL.
PROSITEPS01206. ASC. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiACCN4.
GenomeRNAi55515.
NextBio59930.
PROQ96FT7.
SOURCESearch...

Entry information

Entry nameASIC4_HUMAN
AccessionPrimary (citable) accession number: Q96FT7
Secondary accession number(s): Q53SB7 expand/collapse secondary AC list , Q6GMS1, Q6PIN9, Q9NQA4
Entry history
Integrated into UniProtKB/Swiss-Prot: September 13, 2005
Last sequence update: May 18, 2010
Last modified: April 16, 2014
This is version 98 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM