ASIC5_HUMAN
ID ASIC5_HUMAN Reviewed; 505 AA.
AC Q9NY37;
DT 20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 134.
DE RecName: Full=Acid-sensing ion channel 5;
DE Short=ASIC5;
DE AltName: Full=Amiloride-sensitive cation channel 5;
DE AltName: Full=Human intestine Na(+) channel;
DE Short=HINaC;
GN Name=ASIC5; Synonyms=ACCN5, HINAC;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, MUTAGENESIS OF ALA-443, SUBCELLULAR
RP LOCATION, AND TISSUE SPECIFICITY.
RC TISSUE=Small intestine;
RX PubMed=10767424; DOI=10.1016/s0014-5793(00)01403-4;
RA Schaefer L., Sakai H., Mattei M.-G., Lazdunski M., Lingueglia E.;
RT "Molecular cloning, functional expression and chromosomal localization of
RT an amiloride-sensitive Na(+) channel from human small intestine.";
RL FEBS Lett. 471:205-210(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
CC -!- FUNCTION: Cation channel that gives rise to very low constitutive
CC currents in the absence of activation. The activated channel exhibits
CC selectivity for sodium, and is inhibited by amiloride.
CC {ECO:0000269|PubMed:10767424}.
CC -!- SUBUNIT: Homotrimer or heterotrimer with other ASIC proteins.
CC {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10767424};
CC Multi-pass membrane protein {ECO:0000269|PubMed:10767424}.
CC -!- TISSUE SPECIFICITY: Detected in small intestine, duodenum and jejunum.
CC Detected at very low levels in testis and rectum.
CC {ECO:0000269|PubMed:10767424}.
CC -!- SIMILARITY: Belongs to the amiloride-sensitive sodium channel (TC
CC 1.A.6) family. ASIC5 subfamily. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AJ252011; CAB85607.1; -; mRNA.
DR EMBL; CH471056; EAX04887.1; -; Genomic_DNA.
DR CCDS; CCDS3793.1; -.
DR RefSeq; NP_059115.1; NM_017419.2.
DR AlphaFoldDB; Q9NY37; -.
DR SMR; Q9NY37; -.
DR BioGRID; 119729; 82.
DR STRING; 9606.ENSP00000442477; -.
DR TCDB; 1.A.6.1.11; the epithelial na(+) channel (enac) family.
DR GlyGen; Q9NY37; 3 sites, 1 O-linked glycan (1 site).
DR iPTMnet; Q9NY37; -.
DR PhosphoSitePlus; Q9NY37; -.
DR BioMuta; ASIC5; -.
DR DMDM; 74753059; -.
DR PaxDb; Q9NY37; -.
DR PeptideAtlas; Q9NY37; -.
DR PRIDE; Q9NY37; -.
DR Antibodypedia; 48122; 116 antibodies from 21 providers.
DR DNASU; 51802; -.
DR Ensembl; ENST00000537611.3; ENSP00000442477.2; ENSG00000256394.3.
DR GeneID; 51802; -.
DR KEGG; hsa:51802; -.
DR MANE-Select; ENST00000537611.3; ENSP00000442477.2; NM_017419.3; NP_059115.1.
DR UCSC; uc003ipe.1; human.
DR CTD; 51802; -.
DR DisGeNET; 51802; -.
DR GeneCards; ASIC5; -.
DR HGNC; HGNC:17537; ASIC5.
DR HPA; ENSG00000256394; Tissue enriched (intestine).
DR MalaCards; ASIC5; -.
DR MIM; 616693; gene.
DR neXtProt; NX_Q9NY37; -.
DR PharmGKB; PA134946702; -.
DR VEuPathDB; HostDB:ENSG00000256394; -.
DR eggNOG; KOG4294; Eukaryota.
DR GeneTree; ENSGT00940000160549; -.
DR HOGENOM; CLU_020415_4_0_1; -.
DR InParanoid; Q9NY37; -.
DR OMA; QNFSIAE; -.
DR OrthoDB; 686369at2759; -.
DR PhylomeDB; Q9NY37; -.
DR TreeFam; TF330663; -.
DR PathwayCommons; Q9NY37; -.
DR Reactome; R-HSA-2672351; Stimuli-sensing channels.
DR BioGRID-ORCS; 51802; 9 hits in 1064 CRISPR screens.
DR GenomeRNAi; 51802; -.
DR Pharos; Q9NY37; Tbio.
DR PRO; PR:Q9NY37; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q9NY37; protein.
DR Bgee; ENSG00000256394; Expressed in duodenum and 16 other tissues.
DR Genevisible; Q9NY37; HS.
DR GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
DR GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR GO; GO:0015280; F:ligand-gated sodium channel activity; IBA:GO_Central.
DR GO; GO:0015252; F:proton channel activity; IEA:Ensembl.
DR GO; GO:0035725; P:sodium ion transmembrane transport; IBA:GO_Central.
DR InterPro; IPR001873; ENaC.
DR PANTHER; PTHR11690; PTHR11690; 1.
DR Pfam; PF00858; ASC; 1.
DR PRINTS; PR01078; AMINACHANNEL.
PE 1: Evidence at protein level;
KW Cell membrane; Disulfide bond; Glycoprotein; Ion channel; Ion transport;
KW Membrane; Reference proteome; Sodium; Sodium channel; Sodium transport;
KW Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1..505
FT /note="Acid-sensing ion channel 5"
FT /id="PRO_0000335597"
FT TOPO_DOM 1..61
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 62..82
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 83..459
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 460..480
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 481..505
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT CARBOHYD 147
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 163
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 112..207
FT /evidence="ECO:0000250"
FT DISULFID 185..192
FT /evidence="ECO:0000250"
FT DISULFID 298..377
FT /evidence="ECO:0000250"
FT DISULFID 315..373
FT /evidence="ECO:0000250"
FT DISULFID 319..364
FT /evidence="ECO:0000250"
FT DISULFID 328..350
FT /evidence="ECO:0000250"
FT DISULFID 330..342
FT /evidence="ECO:0000250"
FT MUTAGEN 443
FT /note="A->C: Slightly activates the channel."
FT /evidence="ECO:0000269|PubMed:10767424"
FT MUTAGEN 443
FT /note="A->F,T: Activates the channel."
FT /evidence="ECO:0000269|PubMed:10767424"
SQ SEQUENCE 505 AA; 57464 MW; 3479F297202789D6 CRC64;
MEQTEKSKVY AENGLLEKIK LCLSKKPLPS PTERKKFDHD FAISTSFHGI HNIVQNRSKI
RRVLWLVVVL GSVSLVTWQI YIRLLNYFTW PTTTSIEVQY VEKMEFPAVT FCNLNRFQTD
AVAKFGVIFF LWHIVSKVLH LQEITANSTG SREATDFAAS HQNFSIVEFI RNKGFYLNNS
TLLDCEFFGK PCSPKDFAHV FTEYGNCFTF NHGETLQAKR KVSVSGRGLS LLFNVNQEAF
TDNPALGFVD AGIIFVIHSP KKVPQFDGLG LLSPVGMHAR VTIRQVKTVH QEYPWGECNP
NIKLQNFSSY STSGCLKECK AQHIKKQCGC VPFLLPGYGI ECDLQKYFSC VSPVLDHIEF
KDLCTVGTHN SSCPVSCEEI EYPATISYSS FPSQKALKYL SKKLNQSRKY IRENLVKIEI
NYSDLNYKIT QQQKAVSVSE LLADLGGQLG LFCGASLITI IEIIEYLFTN FYWICIFFLL
KISEMTQWTP PPQNHLGNKN RIEEC
