CAHM3_HUMAN
ID CAHM3_HUMAN Reviewed; 344 AA.
AC Q86XJ0; Q5W090; Q8IXR2;
DT 05-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 05-DEC-2018, sequence version 2.
DT 03-AUG-2022, entry version 132.
DE RecName: Full=Calcium homeostasis modulator protein 3;
DE AltName: Full=Protein A;
GN Name=CALHM3 {ECO:0000312|HGNC:HGNC:23458}; Synonyms=FAM26A;
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 [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT
RP ALA-VAL-PRO-GLU-PRO-PRO-277 INS.
RC TISSUE=Cervix, and Lymph;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP IDENTIFICATION.
RX PubMed=18585350; DOI=10.1016/j.cell.2008.05.048;
RA Dreses-Werringloer U., Lambert J.-C., Vingtdeux V., Zhao H., Vais H.,
RA Siebert A., Jain A., Koppel J., Rovelet-Lecrux A., Hannequin D.,
RA Pasquier F., Galimberti D., Scarpini E., Mann D., Lendon C., Campion D.,
RA Amouyel P., Davies P., Foskett J.K., Campagne F., Marambaud P.;
RT "A polymorphism in CALHM1 influences Ca2+ homeostasis, Abeta levels, and
RT Alzheimer's disease risk.";
RL Cell 133:1149-1161(2008).
RN [4]
RP TISSUE SPECIFICITY.
RX PubMed=19997627; DOI=10.1371/journal.pone.0007682;
RA Moyer B.D., Hevezi P., Gao N., Lu M., Kalabat D., Soto H., Echeverri F.,
RA Laita B., Yeh S.A., Zoller M., Zlotnik A.;
RT "Expression of genes encoding multi-transmembrane proteins in specific
RT primate taste cell populations.";
RL PLoS ONE 4:E7682-E7682(2009).
CC -!- FUNCTION: Pore-forming subunit of a voltage-gated ion channel, also
CC permeable to larger molecules including ATP. Together with CALHM1,
CC forms a fast-activating voltage-gated ATP-release channel in type II
CC taste bud cells (TBCs). CALHM1-CALHM3-mediated ATP released acts as a
CC neurotransmitter to gustatory neurons in response to GPCR-mediated
CC tastes, including sweet, bitter and umami substances.
CC {ECO:0000250|UniProtKB:J3QMI4}.
CC -!- SUBUNIT: Associates with CALHM1 as a pore-forming subunit in an hetero-
CC hexameric channel complex. {ECO:0000250|UniProtKB:J3QMI4}.
CC -!- INTERACTION:
CC Q86XJ0; Q12959: DLG1; NbExp=2; IntAct=EBI-20731541, EBI-357481;
CC -!- SUBCELLULAR LOCATION: Basolateral cell membrane
CC {ECO:0000250|UniProtKB:J3QMI4}; Multi-pass membrane protein
CC {ECO:0000255}.
CC -!- TISSUE SPECIFICITY: Specifically expressed in circumvallate taste bud
CC cells. {ECO:0000269|PubMed:19997627}.
CC -!- SIMILARITY: Belongs to the CALHM family. {ECO:0000305}.
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DR EMBL; AL139339; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC039499; AAH39499.1; -; mRNA.
DR EMBL; BC043367; AAH43367.1; -; mRNA.
DR CCDS; CCDS44476.1; -.
DR RefSeq; NP_001123214.1; NM_001129742.1.
DR AlphaFoldDB; Q86XJ0; -.
DR SMR; Q86XJ0; -.
DR BioGRID; 125640; 1.
DR IntAct; Q86XJ0; 1.
DR STRING; 9606.ENSP00000358798; -.
DR TCDB; 1.A.84.1.3; the calcium homeostasis modulator ca(2+) channel (calhm-c) family.
DR iPTMnet; Q86XJ0; -.
DR PhosphoSitePlus; Q86XJ0; -.
DR BioMuta; CALHM3; -.
DR DMDM; 68565591; -.
DR PaxDb; Q86XJ0; -.
DR PeptideAtlas; Q86XJ0; -.
DR PRIDE; Q86XJ0; -.
DR Antibodypedia; 3118; 113 antibodies from 20 providers.
DR DNASU; 119395; -.
DR Ensembl; ENST00000369783.4; ENSP00000358798.4; ENSG00000183128.7.
DR GeneID; 119395; -.
DR KEGG; hsa:119395; -.
DR MANE-Select; ENST00000369783.4; ENSP00000358798.4; NM_001129742.2; NP_001123214.1.
DR UCSC; uc001kxg.4; human.
DR CTD; 119395; -.
DR DisGeNET; 119395; -.
DR GeneCards; CALHM3; -.
DR HGNC; HGNC:23458; CALHM3.
DR HPA; ENSG00000183128; Not detected.
DR MIM; 618263; gene.
DR neXtProt; NX_Q86XJ0; -.
DR OpenTargets; ENSG00000183128; -.
DR PharmGKB; PA162380976; -.
DR VEuPathDB; HostDB:ENSG00000183128; -.
DR eggNOG; ENOG502QRUK; Eukaryota.
DR GeneTree; ENSGT01030000234610; -.
DR HOGENOM; CLU_069286_0_0_1; -.
DR InParanoid; Q86XJ0; -.
DR OMA; RCWSQAL; -.
DR OrthoDB; 960393at2759; -.
DR PhylomeDB; Q86XJ0; -.
DR TreeFam; TF329085; -.
DR PathwayCommons; Q86XJ0; -.
DR Reactome; R-HSA-9717207; Sensory perception of sweet, bitter, and umami (glutamate) taste.
DR Reactome; R-HSA-9730628; Sensory perception of salty taste.
DR SignaLink; Q86XJ0; -.
DR BioGRID-ORCS; 119395; 7 hits in 1067 CRISPR screens.
DR GenomeRNAi; 119395; -.
DR Pharos; Q86XJ0; Tdark.
DR PRO; PR:Q86XJ0; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q86XJ0; protein.
DR Bgee; ENSG00000183128; Expressed in body of pancreas and 19 other tissues.
DR Genevisible; Q86XJ0; HS.
DR GO; GO:0016323; C:basolateral plasma membrane; ISS:UniProtKB.
DR GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
DR GO; GO:0005261; F:cation channel activity; IBA:GO_Central.
DR GO; GO:0005244; F:voltage-gated ion channel activity; ISS:UniProtKB.
DR GO; GO:0015867; P:ATP transport; ISS:UniProtKB.
DR GO; GO:0051291; P:protein heterooligomerization; ISS:UniProtKB.
DR GO; GO:0050896; P:response to stimulus; IEA:UniProtKB-KW.
DR GO; GO:0050909; P:sensory perception of taste; ISS:UniProtKB.
DR InterPro; IPR029569; CALHM.
DR InterPro; IPR029571; CALHM3.
DR PANTHER; PTHR32261; PTHR32261; 1.
DR PANTHER; PTHR32261:SF7; PTHR32261:SF7; 1.
DR Pfam; PF14798; Ca_hom_mod; 1.
PE 1: Evidence at protein level;
KW Cell membrane; Ion channel; Ion transport; Membrane; Reference proteome;
KW Sensory transduction; Taste; Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1..344
FT /note="Calcium homeostasis modulator protein 3"
FT /id="PRO_0000186719"
FT TRANSMEM 17..37
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 50..70
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 108..128
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 178..198
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VARIANT 277
FT /note="P -> PAVPEPP (in dbSNP:rs143800079)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_081109"
SQ SEQUENCE 344 AA; 38496 MW; C35B67BBDE58EA61 CRC64;
MDKFRMLFQH FQSSSESVMN GICLLLAAVT VKLYSSFDFN CPCLVHYNAL YGLGLLLTPP
LALFLCGLLA NRQSVVMVEE WRRPAGHRRK DPGIIRYMCS SVLQRALAAP LVWILLALLD
GKCFVCAFSS SVDPEKFLDF ANMTPSQVQL FLAKVPCKED ELVRDSPARK AVSRYLRCLS
QAIGWSVTLL LIIAAFLARC LRPCFDQTVF LQRRYWSNYV DLEQKLFDET CCEHARDFAH
RCVLHFFASM RSELQARGLR RGNAGRRLEL PAVPEPPEGL DSGSGKAHLR AISSREQVDR
LLSTWYSSKP PLDLAASPGL CGGGLSHRAP TLALGTRLSQ HTDV
