NCKX4_HUMAN
ID NCKX4_HUMAN Reviewed; 622 AA.
AC Q8NFF2; B4DHE7; B9ZVY2; Q8N8U6; Q8NCX1; Q8NFF0; Q8NFF1;
DT 26-SEP-2003, integrated into UniProtKB/Swiss-Prot.
DT 27-JUL-2011, sequence version 2.
DT 03-AUG-2022, entry version 168.
DE RecName: Full=Sodium/potassium/calcium exchanger 4;
DE AltName: Full=Na(+)/K(+)/Ca(2+)-exchange protein 4 {ECO:0000303|PubMed:12379639};
DE AltName: Full=Solute carrier family 24 member 4;
DE Flags: Precursor;
GN Name=SLC24A4 {ECO:0000312|HGNC:HGNC:10978};
GN Synonyms=NCKX4 {ECO:0000303|PubMed:12379639};
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] (ISOFORM 2), NUCLEOTIDE SEQUENCE [MRNA] OF
RP 10-622 (ISOFORMS 1 AND 3), FUNCTION, AND TISSUE SPECIFICITY.
RX PubMed=12379639; DOI=10.1074/jbc.m210011200;
RA Li X.-F., Kraev A.S., Lytton J.;
RT "Molecular cloning of a fourth member of the potassium-dependent sodium-
RT calcium exchanger gene family, NCKX4.";
RL J. Biol. Chem. 277:48410-48417(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 1-474 (ISOFORM 4).
RC TISSUE=Brain;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12508121; DOI=10.1038/nature01348;
RA Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
RA Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
RA Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H.,
RA Du H., Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T.,
RA Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B.,
RA Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D.,
RA Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R.,
RA Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S.,
RA Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C.,
RA Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S.,
RA Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C.,
RA Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P.,
RA Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
RA Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
RA Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J.,
RA Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F.,
RA Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F.,
RA Waterston R., Hood L., Weissenbach J.;
RT "The DNA sequence and analysis of human chromosome 14.";
RL Nature 421:601-607(2003).
RN [4]
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 10-622 (ISOFORM 1).
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 294-622 (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [7]
RP INVOLVEMENT IN SHEP6, AND POLYMORPHISM.
RX PubMed=17952075; DOI=10.1038/ng.2007.13;
RA Sulem P., Gudbjartsson D.F., Stacey S.N., Helgason A., Rafnar T.,
RA Magnusson K.P., Manolescu A., Karason A., Palsson A., Thorleifsson G.,
RA Jakobsdottir M., Steinberg S., Palsson S., Jonasson F., Sigurgeirsson B.,
RA Thorisdottir K., Ragnarsson R., Benediktsdottir K.R., Aben K.K.,
RA Kiemeney L.A., Olafsson J.H., Gulcher J., Kong A., Thorsteinsdottir U.,
RA Stefansson K.;
RT "Genetic determinants of hair, eye and skin pigmentation in Europeans.";
RL Nat. Genet. 39:1443-1452(2007).
RN [8]
RP FUNCTION, TRANSPORTER ACTIVITY, AND SUBCELLULAR LOCATION.
RX PubMed=26631410; DOI=10.1016/j.ceca.2015.11.001;
RA Jalloul A.H., Szerencsei R.T., Schnetkamp P.P.;
RT "Cation dependencies and turnover rates of the human K(+)-dependent Na(+)-
RT Ca(2+) exchangers NCKX1, NCKX2, NCKX3 and NCKX4.";
RL Cell Calcium 59:1-11(2016).
RN [9]
RP FUNCTION, INVOLVEMENT IN AI2A5, AND VARIANT AI2A5 CYS-499.
RX PubMed=23375655; DOI=10.1016/j.ajhg.2013.01.003;
RA Parry D.A., Poulter J.A., Logan C.V., Brookes S.J., Jafri H.,
RA Ferguson C.H., Anwari B.M., Rashid Y., Zhao H., Johnson C.A.,
RA Inglehearn C.F., Mighell A.J.;
RT "Identification of mutations in SLC24A4, encoding a potassium-dependent
RT sodium/calcium exchanger, as a cause of amelogenesis imperfecta.";
RL Am. J. Hum. Genet. 92:307-312(2013).
RN [10]
RP FUNCTION, INVOLVEMENT IN AI2A5, AND VARIANT AI2A5 VAL-146.
RX PubMed=24621671; DOI=10.1177/0022034514527971;
RA Wang S., Choi M., Richardson A.S., Reid B.M., Seymen F., Yildirim M.,
RA Tuna E., Gencay K., Simmer J.P., Hu J.C.;
RT "STIM1 and SLC24A4 are critical for enamel maturation.";
RL J. Dent. Res. 93:94S-100S(2014).
CC -!- FUNCTION: Calcium, potassium:sodium antiporter that transports 1 Ca(2+)
CC and 1 K(+) in exchange for 4 Na(+) (PubMed:12379639, PubMed:26631410).
CC Controls the rapid response termination and proper regulation of
CC adaptation in olfactory sensory neurons (OSNs) which subsequently
CC influences how odor information is encoded and perceived (By
CC similarity). May play a role in calcium transport during amelogenesis
CC (PubMed:23375655, PubMed:24621671). {ECO:0000250|UniProtKB:Q8CGQ8,
CC ECO:0000269|PubMed:12379639, ECO:0000269|PubMed:23375655,
CC ECO:0000269|PubMed:24621671, ECO:0000269|PubMed:26631410}.
CC -!- CATALYTIC ACTIVITY:
CC Reaction=Ca(2+)(out) + K(+)(out) + 4 Na(+)(in) = Ca(2+)(in) + K(+)(in)
CC + 4 Na(+)(out); Xref=Rhea:RHEA:69967, ChEBI:CHEBI:29101,
CC ChEBI:CHEBI:29103, ChEBI:CHEBI:29108;
CC Evidence={ECO:0000305|PubMed:26631410};
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26631410};
CC Multi-pass membrane protein {ECO:0000255}. Cytoplasm
CC {ECO:0000250|UniProtKB:Q8CGQ8}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q8NFF2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NFF2-2; Sequence=VSP_008369;
CC Name=3;
CC IsoId=Q8NFF2-3; Sequence=VSP_008372;
CC Name=4;
CC IsoId=Q8NFF2-4; Sequence=VSP_008370, VSP_008371;
CC -!- TISSUE SPECIFICITY: Expressed abundantly in all regions of the brain,
CC aorta, lung and thymus (PubMed:12379639). Expressed at lower levels in
CC the stomach and intestine (PubMed:12379639).
CC {ECO:0000269|PubMed:12379639}.
CC -!- POLYMORPHISM: Genetic variants in SLC24A4 define the skin/hair/eye
CC pigmentation variation locus 6 (SHEP6) [MIM:210750]. Hair, eye and skin
CC pigmentation are among the most visible examples of human phenotypic
CC variation, with a broad normal range that is subject to substantial
CC geographic stratification. In the case of skin, individuals tend to
CC have lighter pigmentation with increasing distance from the equator. By
CC contrast, the majority of variation in human eye and hair color is
CC found among individuals of European ancestry, with most other human
CC populations fixed for brown eyes and black hair.
CC {ECO:0000269|PubMed:17952075}.
CC -!- DISEASE: Amelogenesis imperfecta, hypomaturation type, 2A5 (AI2A5)
CC [MIM:615887]: A defect of enamel formation. The disorder involves both
CC primary and secondary dentitions. The teeth have a shiny agar jelly
CC appearance and the enamel is softer than normal. Brown pigment is
CC present in middle layers of enamel. {ECO:0000269|PubMed:23375655,
CC ECO:0000269|PubMed:24621671}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19)
CC family. SLC24A subfamily. {ECO:0000305}.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-18 is the initiator.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH69653.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAM76070.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAM76071.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAC04715.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};
CC Sequence=CAD38903.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AF520704; AAM76070.1; ALT_INIT; mRNA.
DR EMBL; AF520705; AAM76071.1; ALT_INIT; mRNA.
DR EMBL; AF520706; AAM76072.1; -; mRNA.
DR EMBL; AK096171; BAC04715.1; ALT_SEQ; mRNA.
DR EMBL; AK295059; BAG58108.1; -; mRNA.
DR EMBL; AL118559; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471061; EAW81485.1; -; Genomic_DNA.
DR EMBL; BC069653; AAH69653.1; ALT_INIT; mRNA.
DR EMBL; AL834225; CAD38903.1; ALT_INIT; mRNA.
DR CCDS; CCDS45155.2; -. [Q8NFF2-3]
DR CCDS; CCDS45156.1; -. [Q8NFF2-2]
DR CCDS; CCDS9903.2; -. [Q8NFF2-1]
DR RefSeq; NP_705932.2; NM_153646.3. [Q8NFF2-1]
DR RefSeq; NP_705933.2; NM_153647.3. [Q8NFF2-3]
DR RefSeq; NP_705934.1; NM_153648.3. [Q8NFF2-2]
DR RefSeq; XP_011534743.1; XM_011536441.2.
DR RefSeq; XP_011534744.1; XM_011536442.2.
DR AlphaFoldDB; Q8NFF2; -.
DR BioGRID; 125813; 1.
DR STRING; 9606.ENSP00000431840; -.
DR TCDB; 2.A.19.4.5; the ca(2+):cation antiporter (caca) family.
DR GlyGen; Q8NFF2; 2 sites.
DR iPTMnet; Q8NFF2; -.
DR PhosphoSitePlus; Q8NFF2; -.
DR BioMuta; SLC24A4; -.
DR DMDM; 341941166; -.
DR EPD; Q8NFF2; -.
DR MassIVE; Q8NFF2; -.
DR PaxDb; Q8NFF2; -.
DR PeptideAtlas; Q8NFF2; -.
DR PRIDE; Q8NFF2; -.
DR ProteomicsDB; 73293; -. [Q8NFF2-1]
DR ProteomicsDB; 73294; -. [Q8NFF2-2]
DR ProteomicsDB; 73295; -. [Q8NFF2-3]
DR ProteomicsDB; 73296; -. [Q8NFF2-4]
DR ABCD; Q8NFF2; 1 sequenced antibody.
DR Antibodypedia; 47402; 108 antibodies from 22 providers.
DR DNASU; 123041; -.
DR Ensembl; ENST00000393265.6; ENSP00000376948.2; ENSG00000140090.18. [Q8NFF2-2]
DR Ensembl; ENST00000531433.5; ENSP00000433302.1; ENSG00000140090.18. [Q8NFF2-3]
DR Ensembl; ENST00000532405.6; ENSP00000431840.1; ENSG00000140090.18. [Q8NFF2-1]
DR Ensembl; ENST00000676001.1; ENSP00000502715.1; ENSG00000140090.18. [Q8NFF2-1]
DR GeneID; 123041; -.
DR KEGG; hsa:123041; -.
DR MANE-Select; ENST00000532405.6; ENSP00000431840.1; NM_153646.4; NP_705932.2.
DR UCSC; uc001yai.4; human. [Q8NFF2-1]
DR CTD; 123041; -.
DR DisGeNET; 123041; -.
DR GeneCards; SLC24A4; -.
DR HGNC; HGNC:10978; SLC24A4.
DR HPA; ENSG00000140090; Tissue enhanced (brain, choroid plexus).
DR MalaCards; SLC24A4; -.
DR MIM; 210750; phenotype.
DR MIM; 609840; gene.
DR MIM; 615887; phenotype.
DR neXtProt; NX_Q8NFF2; -.
DR OpenTargets; ENSG00000140090; -.
DR Orphanet; 100032; Hypocalcified amelogenesis imperfecta.
DR Orphanet; 100033; Hypomaturation amelogenesis imperfecta.
DR PharmGKB; PA35854; -.
DR VEuPathDB; HostDB:ENSG00000140090; -.
DR eggNOG; KOG1307; Eukaryota.
DR GeneTree; ENSGT01030000234532; -.
DR HOGENOM; CLU_007948_5_2_1; -.
DR InParanoid; Q8NFF2; -.
DR OMA; LFGSWGH; -.
DR OrthoDB; 1168500at2759; -.
DR PhylomeDB; Q8NFF2; -.
DR TreeFam; TF318759; -.
DR PathwayCommons; Q8NFF2; -.
DR Reactome; R-HSA-425561; Sodium/Calcium exchangers.
DR Reactome; R-HSA-5619055; Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI).
DR SIGNOR; Q8NFF2; -.
DR BioGRID-ORCS; 123041; 9 hits in 1061 CRISPR screens.
DR GenomeRNAi; 123041; -.
DR Pharos; Q8NFF2; Tbio.
DR PRO; PR:Q8NFF2; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q8NFF2; protein.
DR Bgee; ENSG00000140090; Expressed in monocyte and 116 other tissues.
DR ExpressionAtlas; Q8NFF2; baseline and differential.
DR Genevisible; Q8NFF2; HS.
DR GO; GO:0016324; C:apical plasma membrane; ISS:ARUK-UCL.
DR GO; GO:0120199; C:cone photoreceptor outer segment; ISS:ARUK-UCL.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
DR GO; GO:0016020; C:membrane; ISS:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; IDA:ARUK-UCL.
DR GO; GO:0031982; C:vesicle; ISS:ARUK-UCL.
DR GO; GO:0005262; F:calcium channel activity; IBA:GO_Central.
DR GO; GO:0008273; F:calcium, potassium:sodium antiporter activity; IDA:ARUK-UCL.
DR GO; GO:0048306; F:calcium-dependent protein binding; ISS:ARUK-UCL.
DR GO; GO:0005516; F:calmodulin binding; ISS:ARUK-UCL.
DR GO; GO:0015293; F:symporter activity; IEA:UniProtKB-KW.
DR GO; GO:0097186; P:amelogenesis; ISS:UniProtKB.
DR GO; GO:1990034; P:calcium ion export across plasma membrane; ISS:ARUK-UCL.
DR GO; GO:0055074; P:calcium ion homeostasis; ISS:ARUK-UCL.
DR GO; GO:0098703; P:calcium ion import across plasma membrane; ISS:ARUK-UCL.
DR GO; GO:0070588; P:calcium ion transmembrane transport; IDA:ARUK-UCL.
DR GO; GO:0006874; P:cellular calcium ion homeostasis; IDA:ARUK-UCL.
DR GO; GO:0071486; P:cellular response to high light intensity; IEA:Ensembl.
DR GO; GO:0036368; P:cone photoresponse recovery; ISS:ARUK-UCL.
DR GO; GO:0050911; P:detection of chemical stimulus involved in sensory perception of smell; ISS:ARUK-UCL.
DR GO; GO:0042756; P:drinking behavior; ISS:ARUK-UCL.
DR GO; GO:0070166; P:enamel mineralization; TAS:ARUK-UCL.
DR GO; GO:0006811; P:ion transport; TAS:Reactome.
DR GO; GO:0086009; P:membrane repolarization; ISS:ARUK-UCL.
DR GO; GO:0050849; P:negative regulation of calcium-mediated signaling; ISS:ARUK-UCL.
DR GO; GO:0021630; P:olfactory nerve maturation; ISS:ARUK-UCL.
DR GO; GO:0007602; P:phototransduction; ISS:ARUK-UCL.
DR GO; GO:0010628; P:positive regulation of gene expression; IEA:Ensembl.
DR GO; GO:0071805; P:potassium ion transmembrane transport; IDA:ARUK-UCL.
DR GO; GO:1903998; P:regulation of eating behavior; ISS:ARUK-UCL.
DR GO; GO:0008277; P:regulation of G protein-coupled receptor signaling pathway; ISS:ARUK-UCL.
DR GO; GO:0010469; P:regulation of signaling receptor activity; ISS:ARUK-UCL.
DR GO; GO:0009644; P:response to high light intensity; ISS:ARUK-UCL.
DR GO; GO:1990680; P:response to melanocyte-stimulating hormone; ISS:ARUK-UCL.
DR GO; GO:1990834; P:response to odorant; ISS:ARUK-UCL.
DR GO; GO:0007608; P:sensory perception of smell; ISS:UniProtKB.
DR GO; GO:0035725; P:sodium ion transmembrane transport; IDA:ARUK-UCL.
DR Gene3D; 1.20.1420.30; -; 2.
DR InterPro; IPR004481; K/Na/Ca-exchanger.
DR InterPro; IPR004837; NaCa_Exmemb.
DR InterPro; IPR044880; NCX_ion-bd_dom_sf.
DR InterPro; IPR030232; SLC24A4.
DR PANTHER; PTHR10846; PTHR10846; 1.
DR PANTHER; PTHR10846:SF21; PTHR10846:SF21; 1.
DR Pfam; PF01699; Na_Ca_ex; 2.
DR TIGRFAMs; TIGR00367; TIGR00367; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Amelogenesis imperfecta; Antiport; Calcium;
KW Calcium transport; Cell membrane; Cytoplasm; Disease variant; Glycoprotein;
KW Ion transport; Membrane; Olfaction; Potassium; Potassium transport;
KW Reference proteome; Repeat; Sensory transduction; Signal; Sodium;
KW Sodium transport; Symport; Transmembrane; Transmembrane helix; Transport.
FT SIGNAL 1..38
FT /evidence="ECO:0000255"
FT CHAIN 39..622
FT /note="Sodium/potassium/calcium exchanger 4"
FT /id="PRO_0000019373"
FT TOPO_DOM 39..97
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 98..118
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 119..142
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 143..163
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 164..172
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 173..193
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 194..200
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 201..221
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 222..224
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 225..245
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 246..457
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 458..478
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 479
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 480..500
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 501..526
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 527..547
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 548..557
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 558..578
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 579..586
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 587..607
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 608..622
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT REPEAT 139..179
FT /note="Alpha-1"
FT REPEAT 495..526
FT /note="Alpha-2"
FT REGION 358..410
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 358..374
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 390..408
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 69
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 76
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..109
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_008370"
FT VAR_SEQ 1..64
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12379639"
FT /id="VSP_008369"
FT VAR_SEQ 172..210
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_008371"
FT VAR_SEQ 275..293
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:12379639,
FT ECO:0000303|PubMed:14702039"
FT /id="VSP_008372"
FT VARIANT 146
FT /note="A -> V (in AI2A5; autosomal recessive;
FT dbSNP:rs587777537)"
FT /evidence="ECO:0000269|PubMed:24621671"
FT /id="VAR_071475"
FT VARIANT 499
FT /note="S -> C (in AI2A5; autosomal recessive;
FT dbSNP:rs587777536)"
FT /evidence="ECO:0000269|PubMed:23375655"
FT /id="VAR_070183"
FT VARIANT 613
FT /note="V -> I (in dbSNP:rs4900130)"
FT /id="VAR_042664"
FT CONFLICT 444
FT /note="C -> S (in Ref. 2; BAC04715)"
FT /evidence="ECO:0000305"
FT CONFLICT 560
FT /note="Y -> H (in Ref. 2; BAG58108)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 622 AA; 69042 MW; 00D69370E55EE388 CRC64;
MALRGTLRPL KVRRRREMLP QQVGFVCAVL ALVCCASGLF GSLGHKTASA SKRVLPDTWR
NRKLMAPVNG TQTAKNCTDP AIHEFPTDLF SNKERQHGAV LLHILGALYM FYALAIVCDD
FFVPSLEKIC ERLHLSEDVA GATFMAAGSS TPELFASVIG VFITHGDVGV GTIVGSAVFN
ILCIIGVCGL FAGQVVRLTW WAVCRDSVYY TISVIVLIVF IYDEQIVWWE GLVLIILYVF
YILIMKYNVK MQAFFTVKQK SIANGNPVNS ELEAGNDFYD GSYDDPSVPL LGQVKEKPQY
GKNPVVMVDE IMSSSPPKFT FPEAGLRIMI TNKFGPRTRL RMASRIIINE RQRLINSANG
VSSKPLQNGR HENIENGNVP VENPEDPQQN QEQQPPPQPP PPEPEPVEAD FLSPFSVPEA
RGDKVKWVFT WPLIFLLCVT IPNCSKPRWE KFFMVTFITA TLWIAVFSYI MVWLVTIIGY
TLGIPDVIMG ITFLAAGTSV PDCMASLIVA RQGLGDMAVS NTIGSNVFDI LVGLGVPWGL
QTMVVNYGST VKINSRGLVY SVVLLLGSVA LTVLGIHLNK WRLDRKLGVY VLVLYAIFLC
FSIMIEFNVF TFVNLPMCRE DD
