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Q96FT7

- ASIC4_HUMAN

UniProt

Q96FT7 - ASIC4_HUMAN

Protein

Acid-sensing ion channel 4

Gene

ASIC4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 103 (01 Oct 2014)
      Sequence version 2 (18 May 2010)
      Previous versions | rss
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    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

    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

    Membrane By similarity; Multi-pass membrane protein By similarity

    GO - Cellular componenti

    1. integral component of plasma membrane Source: ProtInc

    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 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

    IntActiQ96FT7. 2 interactions.
    STRINGi9606.ENSP00000350786.

    Structurei

    3D structure databases

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

    Topological domain

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

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei196 – 21621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei547 – 56721HelicalSequence AnalysisAdd
    BLAST

    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. 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:
    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...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q96FT7. 2 interactions.
    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

    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: October 1, 2014
    This is version 103 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