ID AQP4_HUMAN Reviewed; 323 AA. AC P55087; P78564; DT 01-OCT-1996, integrated into UniProtKB/Swiss-Prot. DT 01-NOV-1997, sequence version 2. DT 05-OCT-2010, entry version 96. DE RecName: Full=Aquaporin-4; DE Short=AQP-4; DE AltName: Full=Mercurial-insensitive water channel; DE Short=MIWC; DE AltName: Full=WCH4; GN Name=AQP4; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA]. RC TISSUE=Fetal brain; RX MEDLINE=96032721; PubMed=7559426; DOI=10.1074/jbc.270.39.22907; RA Yang B., Ma T., Verkman A.S.; RT "cDNA cloning, gene organization, and chromosomal localization of a RT human mercurial insensitive water channel. Evidence for distinct RT transcriptional units."; RL J. Biol. Chem. 270:22907-22913(1995). RN [2] RP NUCLEOTIDE SEQUENCE [MRNA]. RX MEDLINE=96176324; PubMed=8601457; DOI=10.1016/0014-5793(96)00092-0; RA Misaka T., Abe K., Iwabuchi K., Kusakabe Y., Ichinose M., Miki K., RA Emori Y., Arai S.; RT "A water channel closely related to rat brain aquaporin 4 is expressed RT in acid- and pepsinogen-secretory cells of human stomach."; RL FEBS Lett. 381:208-212(1996). RN [3] RP NUCLEOTIDE SEQUENCE [MRNA]. RX MEDLINE=97008105; PubMed=8855281; DOI=10.1073/pnas.93.20.10908; RA Lu M., Lee M.D., Smith B.L., Jung J.S., Agre P., Verdijk M.A.J., RA Merkx G., Rijss J.P.L., Deen P.M.T.; RT "The human AQP4 gene: definition of the locus encoding two water RT channel polypeptides in brain."; RL Proc. Natl. Acad. Sci. U.S.A. 93:10908-10912(1996). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Lung; 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 RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). CC -!- FUNCTION: Forms a water-specific channel. Osmoreceptor which CC regulates body water balance and mediates water flow within the CC central nervous system. CC -!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=2; CC IsoId=P55087-1; Sequence=Displayed; CC Name=1; CC IsoId=P55087-2; Sequence=VSP_003232; CC -!- TISSUE SPECIFICITY: Brain - muscle >> heart, kidney, lung, and CC trachea. CC -!- DOMAIN: Aquaporins contain two tandem repeats each containing CC three membrane-spanning domains and a pore-forming loop with the CC signature motif Asn-Pro-Ala (NPA). CC -!- SIMILARITY: Belongs to the MIP/aquaporin (TC 1.A.8) family. CC -!- SEQUENCE CAUTION: CC Sequence=AAC50284.1; Type=Erroneous initiation; CC Sequence=AAC52112.1; Type=Erroneous initiation; 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; U34846; AAC52112.1; ALT_INIT; mRNA. DR EMBL; U34845; AAC50284.1; ALT_INIT; mRNA. DR EMBL; D63412; BAA09715.1; -; mRNA. DR EMBL; U63622; AAB26957.1; -; mRNA. DR EMBL; U63623; AAB26958.1; -; mRNA. DR EMBL; BC022286; AAH22286.1; -; mRNA. DR IPI; IPI00022799; -. DR IPI; IPI00221189; -. DR PIR; I39178; I39178. DR RefSeq; NP_001641.1; -. DR RefSeq; NP_004019.1; -. DR UniGene; Hs.315369; -. DR PDB; 3GD8; X-ray; 1.80 A; A=32-254. DR PDBsum; 3GD8; -. DR ProteinModelPortal; P55087; -. DR DIP; DIP-48842N; -. DR STRING; P55087; -. DR TCDB; 1.A.8.8.5; major intrinsic protein (MIP) family. DR PhosphoSite; P55087; -. DR PRIDE; P55087; -. DR Ensembl; ENST00000383168; ENSP00000372654; ENSG00000171885. DR GeneID; 361; -. DR KEGG; hsa:361; -. DR UCSC; uc002kvz.1; human. DR UCSC; uc002kwa.1; human. DR CTD; 361; -. DR GeneCards; GC18M024432; -. DR H-InvDB; HIX0014377; -. DR HGNC; HGNC:637; AQP4. DR HPA; CAB005079; -. DR HPA; HPA014784; -. DR MIM; 600308; gene. DR PharmGKB; PA24922; -. DR eggNOG; prNOG04823; -. DR HOGENOM; HBG705794; -. DR HOVERGEN; HBG000312; -. DR InParanoid; P55087; -. DR OMA; WGKCGPL; -. DR PhylomeDB; P55087; -. DR NextBio; 1509; -. DR ArrayExpress; P55087; -. DR Bgee; P55087; -. DR CleanEx; HS_AQP4; -. DR Genevestigator; P55087; -. DR GermOnline; ENSG00000171885; Homo sapiens. DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB. DR GO; GO:0009897; C:external side of plasma membrane; IDA:UniProtKB. DR GO; GO:0005887; C:integral to plasma membrane; TAS:ProtInc. DR GO; GO:0071346; P:cellular response to interferon-gamma; IDA:UniProtKB. DR GO; GO:0007588; P:excretion; TAS:ProtInc. DR GO; GO:0050891; P:multicellular organismal water homeostasis; IEP:UniProtKB. DR GO; GO:0007399; P:nervous system development; TAS:ProtInc. DR InterPro; IPR012269; Aquaporin. DR InterPro; IPR000425; MIP. DR InterPro; IPR022357; MIP_CS. DR Gene3D; G3DSA:1.20.1080.10; MIP; 1. DR PANTHER; PTHR19139; MIP; 1. DR Pfam; PF00230; MIP; 1. DR PRINTS; PR00783; MINTRINSICP. DR SUPFAM; SSF81338; MIP; 1. DR TIGRFAMs; TIGR00861; MIP; 1. DR PROSITE; PS00221; MIP; 1. PE 1: Evidence at protein level; KW 3D-structure; Alternative splicing; Complete proteome; Glycoprotein; KW Membrane; Phosphoprotein; Repeat; Transmembrane; Transmembrane helix; KW Transport. FT CHAIN 1 323 Aquaporin-4. FT /FTId=PRO_0000063948. FT TOPO_DOM 1 36 Cytoplasmic (Potential). FT TRANSMEM 37 57 Helical; (Potential). FT TOPO_DOM 58 64 Extracellular (Potential). FT TRANSMEM 65 85 Helical; (Potential). FT TOPO_DOM 86 115 Cytoplasmic (Potential). FT TRANSMEM 116 136 Helical; (Potential). FT TOPO_DOM 137 155 Extracellular (Potential). FT TRANSMEM 156 176 Helical; (Potential). FT TOPO_DOM 177 184 Cytoplasmic (Potential). FT TRANSMEM 185 205 Helical; (Potential). FT TOPO_DOM 206 231 Extracellular (Potential). FT TRANSMEM 232 252 Helical; (Potential). FT TOPO_DOM 253 323 Cytoplasmic (Potential). FT MOTIF 97 99 NPA 1. FT MOTIF 213 215 NPA 2. FT MOD_RES 285 285 Phosphoserine (By similarity). FT MOD_RES 321 321 Phosphoserine (By similarity). FT CARBOHYD 153 153 N-linked (GlcNAc...) (Potential). FT CARBOHYD 206 206 N-linked (GlcNAc...) (Potential). FT VAR_SEQ 1 22 Missing (in isoform 1). FT /FTId=VSP_003232. FT CONFLICT 246 246 G -> A (in Ref. 1; AAC52112). FT CONFLICT 287 288 VE -> AK (in Ref. 1; AAC52112). FT CONFLICT 296 296 P -> L (in Ref. 1; AAC52112). FT HELIX 33 52 FT HELIX 70 76 FT HELIX 80 87 FT HELIX 98 106 FT HELIX 112 123 FT HELIX 133 136 FT TURN 139 141 FT HELIX 161 177 FT HELIX 189 192 FT TURN 196 198 FT TURN 202 207 FT HELIX 214 217 FT TURN 221 223 FT HELIX 230 233 FT HELIX 248 252 SQ SEQUENCE 323 AA; 34830 MW; 1A1600CF0DC11052 CRC64; MSDRPTARRW GKCGPLCTRE NIMVAFKGVW TQAFWKAVTA EFLAMLIFVL LSLGSTINWG GTEKPLPVDM VLISLCFGLS IATMVQCFGH ISGGHINPAV TVAMVCTRKI SIAKSVFYIA AQCLGAIIGA GILYLVTPPS VVGGLGVTMV HGNLTAGHGL LVELIITFQL VFTIFASCDS KRTDVTGSIA LAIGFSVAIG HLFAINYTGA SMNPARSFGP AVIMGNWENH WIYWVGPIIG AVLAGGLYEY VFCPDVEFKR RFKEAFSKAA QQTKGSYMEV EDNRSQVETD DLILKPGVVH VIDVDRGEEK KGKDQSGEVL SSV //