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Q96FT7

- ASIC4_HUMAN

UniProt

Q96FT7 - ASIC4_HUMAN

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Protein
Acid-sensing ion channel 4
Gene
ASIC4, ACCN4
Organism
Homo sapiens (Human)
Status
Reviewed - 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
Complete GO annotation...

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: Chromosome 2

Organism-specific databases

HGNCiHGNC:21263. ASIC4.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini128 – 19568Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei196 – 21621Helical; Reviewed prediction
Add
BLAST
Topological domaini217 – 546330Extracellular Reviewed prediction
Add
BLAST
Transmembranei547 – 56721Helical; Reviewed prediction
Add
BLAST
Topological domaini568 – 64780Cytoplasmic Reviewed prediction
Add
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.

PTM / Processingi

Molecule processing

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

Amino acid modifications

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

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

IntActiQ96FT7. 1 interaction.
STRINGi9606.ENSP00000350786.

Structurei

3D structure databases

ProteinModelPortaliQ96FT7.
SMRiQ96FT7. Positions 192-576.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG304301.
HOGENOMiHOG000247010.
HOVERGENiHBG004150.
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. Align

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

MLSGAAGAAR RGGAALAPSL TRSLAGTHAG ADSCAGADKG SHKETIEERD    50
KRQQRQQRQR QHQGCGAAGS GSDSPTSGPH PVPVLFPLAL SLEEQPLPPL 100
PLGRAPGLLA REGQGREALA SPSSRGQMPI EIVCKIKFAE EDAKPKEKEA 150
GDEQSLLGAV APGAAPRDLA TFASTSTLHG LGRACGPGPH GLRRTLWALA 200
LLTSLAAFLY QAAGLARGYL TRPHLVAMDP AAPAPVAGFP AVTLCNINRF 250
RHSALSDADI FHLANLTGLP PKDRDGHRAA GLRYPEPDMV DILNRTGHQL 300
ADMLKSCNFS GHHCSASNFS VVYTRYGKCY TFNADPRSSL PSRAGGMGSG 350
LEIMLDIQQE EYLPIWRETN ETSFEAGIRV QIHSQEEPPY IHQLGFGVSP 400
GFQTFVSCQE QRLTYLPQPW GNCRAESELR EPELQGYSAY SVSACRLRCE 450
KEAVLQRCHC RMVHMPDSLG GGPEGPCFCP TPCNLTRYGK EISMVRIPNR 500
GSARYLARKY NRNETYIREN FLVLDVFFEA LTSEAMEQRA AYGLSALLGD 550
LGGQMGLFIG ASILTLLEIL DYIYEVSWDR LKRVWRRPKT PLRTSTGGIS 600
TLGLQELKEQ SPCPSRGRVE GGGVSSLLPN HHHPHGPPGG LFEDFAC 647

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

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.
VSP_015609
Alternative sequencei418 – 647230Missing in isoform 2.
VSP_015610Add
BLAST
Alternative sequencei466 – 4661P → PGNETICPPNIYIECADHTL in isoform 3.
VSP_015611

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
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 databases

DMDMi296434387.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSi CCDS2442.1. [Q96FT7-1 ]
RefSeqi NP_878267.2. NM_182847.2. [Q96FT7-1 ]
UniGenei Hs.87469.

3D structure databases

ProteinModelPortali Q96FT7.
SMRi Q96FT7. Positions 192-576.
ModBasei Search...

Protein-protein interaction databases

IntActi Q96FT7. 1 interaction.
STRINGi 9606.ENSP00000350786.

PTM databases

PhosphoSitei Q96FT7.

Polymorphism databases

DMDMi 296434387.

Proteomic databases

PaxDbi Q96FT7.
PRIDEi Q96FT7.

Protocols and materials databases

DNASUi 55515.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000347842 ; ENSP00000326627 ; ENSG00000072182 . [Q96FT7-1 ]
ENST00000358078 ; ENSP00000350786 ; ENSG00000072182 . [Q96FT7-4 ]
GeneIDi 55515.
KEGGi hsa:55515.
UCSCi uc002vly.2. human. [Q96FT7-2 ]
uc002vma.3. human. [Q96FT7-1 ]
uc010fwi.2. human. [Q96FT7-4 ]

Organism-specific databases

CTDi 55515.
GeneCardsi GC02P220378.
H-InvDB HIX0002867.
HGNCi HGNC:21263. ASIC4.
HPAi CAB032529.
HPA036042.
MIMi 606715. gene.
neXtProti NX_Q96FT7.
PharmGKBi PA134956731.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG304301.
HOGENOMi HOG000247010.
HOVERGENi HBG004150.
KOi K04831.
OMAi NCRAESG.
OrthoDBi EOG72VH5P.
PhylomeDBi Q96FT7.
TreeFami TF330663.

Enzyme and pathway databases

Reactomei REACT_160189. Stimuli-sensing channels.

Miscellaneous databases

GeneWikii ACCN4.
GenomeRNAii 55515.
NextBioi 59930.
PROi Q96FT7.
SOURCEi Search...

Gene expression databases

Bgeei Q96FT7.
CleanExi HS_ACCN4.
Genevestigatori Q96FT7.

Family and domain databases

InterProi IPR001873. Na+channel_ASC.
IPR020903. Na+channel_ASC_CS.
[Graphical view ]
PANTHERi PTHR11690. PTHR11690. 1 hit.
Pfami PF00858. ASC. 1 hit.
[Graphical view ]
PRINTSi PR01078. AMINACHANNEL.
PROSITEi PS01206. ASC. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: September 3, 2014
This is version 102 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

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