FXYD4_HUMAN
ID FXYD4_HUMAN Reviewed; 89 AA.
AC P59646; Q6UWZ1; Q7Z4M5;
DT 30-APR-2003, integrated into UniProtKB/Swiss-Prot.
DT 05-SEP-2006, sequence version 2.
DT 03-AUG-2022, entry version 129.
DE RecName: Full=FXYD domain-containing ion transport regulator 4;
DE Flags: Precursor;
GN Name=FXYD4; ORFNames=UNQ526/PRO1069;
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 MRNA].
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Kidney;
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 [4]
RP IDENTIFICATION.
RX PubMed=10950925; DOI=10.1006/geno.2000.6274;
RA Sweadner K.J., Rael E.;
RT "The FXYD gene family of small ion transport regulators or channels: cDNA
RT sequence, protein signature sequence, and expression.";
RL Genomics 68:41-56(2000).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I
CC membrane protein {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the FXYD family. {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; AY358584; AAQ88947.1; -; mRNA.
DR EMBL; AL512654; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC054876; AAH54876.1; -; mRNA.
DR CCDS; CCDS7203.1; -.
DR RefSeq; NP_001171892.1; NM_001184963.1.
DR RefSeq; NP_775183.1; NM_173160.2.
DR AlphaFoldDB; P59646; -.
DR SMR; P59646; -.
DR STRING; 9606.ENSP00000483791; -.
DR TCDB; 1.A.27.1.6; the phospholemman (plm) family.
DR PhosphoSitePlus; P59646; -.
DR BioMuta; FXYD4; -.
DR DMDM; 114152806; -.
DR MassIVE; P59646; -.
DR PaxDb; P59646; -.
DR PeptideAtlas; P59646; -.
DR PRIDE; P59646; -.
DR Antibodypedia; 2752; 25 antibodies from 15 providers.
DR DNASU; 53828; -.
DR Ensembl; ENST00000476166.6; ENSP00000473361.1; ENSG00000150201.15.
DR Ensembl; ENST00000616495.1; ENSP00000483791.1; ENSG00000150201.15.
DR GeneID; 53828; -.
DR KEGG; hsa:53828; -.
DR MANE-Select; ENST00000476166.6; ENSP00000473361.1; NM_173160.3; NP_775183.1.
DR UCSC; uc001jaq.2; human.
DR CTD; 53828; -.
DR DisGeNET; 53828; -.
DR GeneCards; FXYD4; -.
DR HGNC; HGNC:4028; FXYD4.
DR HPA; ENSG00000150201; Tissue enriched (kidney).
DR neXtProt; NX_P59646; -.
DR OpenTargets; ENSG00000150201; -.
DR PharmGKB; PA28444; -.
DR VEuPathDB; HostDB:ENSG00000150201; -.
DR eggNOG; ENOG502TDGY; Eukaryota.
DR GeneTree; ENSGT00940000153062; -.
DR HOGENOM; CLU_171208_0_1_1; -.
DR InParanoid; P59646; -.
DR OMA; QLGGMIC; -.
DR PhylomeDB; P59646; -.
DR TreeFam; TF333443; -.
DR PathwayCommons; P59646; -.
DR Reactome; R-HSA-5578775; Ion homeostasis.
DR Reactome; R-HSA-936837; Ion transport by P-type ATPases.
DR Reactome; R-HSA-9679191; Potential therapeutics for SARS.
DR BioGRID-ORCS; 53828; 11 hits in 1058 CRISPR screens.
DR GenomeRNAi; 53828; -.
DR Pharos; P59646; Tdark.
DR PRO; PR:P59646; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; P59646; protein.
DR Bgee; ENSG00000150201; Expressed in metanephros cortex and 92 other tissues.
DR Genevisible; P59646; HS.
DR GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR GO; GO:0005890; C:sodium:potassium-exchanging ATPase complex; IEA:Ensembl.
DR GO; GO:0099106; F:ion channel regulator activity; IEA:InterPro.
DR GO; GO:0005267; F:potassium channel activity; IEA:Ensembl.
DR GO; GO:0043269; P:regulation of ion transport; IEA:InterPro.
DR InterPro; IPR000272; Ion-transport_regulator_FXYD.
DR Pfam; PF02038; ATP1G1_PLM_MAT8; 1.
DR PROSITE; PS01310; FXYD; 1.
PE 3: Inferred from homology;
KW Ion channel; Ion transport; Membrane; Reference proteome; Signal;
KW Transmembrane; Transmembrane helix; Transport.
FT SIGNAL 1..20
FT /evidence="ECO:0000255"
FT CHAIN 21..89
FT /note="FXYD domain-containing ion transport regulator 4"
FT /id="PRO_0000010366"
FT TOPO_DOM 21..38
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 39..59
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 60..89
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT CONFLICT 63
FT /note="C -> Y (in Ref. 1; AAQ88947)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 89 AA; 9373 MW; C5935929A22449B0 CRC64;
MERVTLALLL LAGLTALEAN DPFANKDDPF YYDWKNLQLS GLICGGLLAI AGIAAVLSGK
CKCKSSQKQH SPVPEKAIPL ITPGSATTC