AQ12B_HUMAN
ID AQ12B_HUMAN Reviewed; 295 AA.
AC A6NM10; A4QPB9;
DT 08-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 24-JUL-2007, sequence version 1.
DT 03-AUG-2022, entry version 114.
DE RecName: Full=Aquaporin-12B;
DE Short=AQP-12B;
GN Name=AQP12B;
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=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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).
CC -!- FUNCTION: Aquaporins facilitate the transport of water and small
CC neutral solutes across cell membranes. {ECO:0000250}.
CC -!- INTERACTION:
CC A6NM10-2; Q9NRZ5: AGPAT4; NbExp=3; IntAct=EBI-17265552, EBI-1754287;
CC A6NM10-2; P0DN84: STRIT1; NbExp=3; IntAct=EBI-17265552, EBI-12200293;
CC A6NM10-2; Q5BJF2: TMEM97; NbExp=3; IntAct=EBI-17265552, EBI-12111910;
CC A6NM10-2; A5PKU2: TUSC5; NbExp=3; IntAct=EBI-17265552, EBI-11988865;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=A6NM10-1; Sequence=Displayed;
CC Name=2;
CC IsoId=A6NM10-2; Sequence=VSP_032800;
CC -!- DOMAIN: Aquaporins contain two tandem repeats each containing three
CC membrane-spanning domains and a pore-forming loop with the signature
CC motif Asn-Pro-Ala (NPA).
CC -!- SIMILARITY: Belongs to the MIP/aquaporin (TC 1.A.8) family. AQP11/AQP12
CC subfamily. {ECO:0000305}.
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DR EMBL; AC011298; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC139748; AAI39749.1; -; mRNA.
DR CCDS; CCDS46560.1; -. [A6NM10-2]
DR RefSeq; NP_001095937.1; NM_001102467.1. [A6NM10-2]
DR AlphaFoldDB; A6NM10; -.
DR SMR; A6NM10; -.
DR BioGRID; 575779; 53.
DR IntAct; A6NM10; 5.
DR STRING; 9606.ENSP00000384894; -.
DR BioMuta; AQP12B; -.
DR MassIVE; A6NM10; -.
DR PRIDE; A6NM10; -.
DR ProteomicsDB; 1503; -. [A6NM10-1]
DR ProteomicsDB; 1504; -. [A6NM10-2]
DR Antibodypedia; 67379; 57 antibodies from 9 providers.
DR DNASU; 653437; -.
DR Ensembl; ENST00000407834.4; ENSP00000384894.3; ENSG00000185176.13. [A6NM10-2]
DR Ensembl; ENST00000621682.4; ENSP00000481577.1; ENSG00000185176.13. [A6NM10-1]
DR GeneID; 653437; -.
DR KEGG; hsa:653437; -.
DR MANE-Select; ENST00000407834.4; ENSP00000384894.3; NM_001102467.2; NP_001095937.1. [A6NM10-2]
DR UCSC; uc010fzj.4; human. [A6NM10-1]
DR CTD; 653437; -.
DR GeneCards; AQP12B; -.
DR HGNC; HGNC:6096; AQP12B.
DR HPA; ENSG00000185176; Tissue enriched (pancreas).
DR neXtProt; NX_A6NM10; -.
DR OpenTargets; ENSG00000185176; -.
DR PharmGKB; PA29902; -.
DR VEuPathDB; HostDB:ENSG00000185176; -.
DR eggNOG; ENOG502RYFD; Eukaryota.
DR GeneTree; ENSGT00530000063816; -.
DR HOGENOM; CLU_074449_3_0_1; -.
DR InParanoid; A6NM10; -.
DR OMA; YFQKTRF; -.
DR OrthoDB; 1080106at2759; -.
DR PhylomeDB; A6NM10; -.
DR TreeFam; TF320251; -.
DR PathwayCommons; A6NM10; -.
DR BioGRID-ORCS; 653437; 22 hits in 981 CRISPR screens.
DR GenomeRNAi; 653437; -.
DR Pharos; A6NM10; Tdark.
DR PRO; PR:A6NM10; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; A6NM10; protein.
DR Bgee; ENSG00000185176; Expressed in body of pancreas and 58 other tissues.
DR ExpressionAtlas; A6NM10; baseline and differential.
DR Genevisible; A6NM10; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0015267; F:channel activity; IBA:GO_Central.
DR Gene3D; 1.20.1080.10; -; 1.
DR InterPro; IPR023271; Aquaporin-like.
DR InterPro; IPR016697; Aquaporin_11/12.
DR InterPro; IPR023265; Aquaporin_12.
DR InterPro; IPR000425; MIP.
DR PANTHER; PTHR21191:SF8; PTHR21191:SF8; 1.
DR Pfam; PF00230; MIP; 1.
DR PIRSF; PIRSF017529; Aquaporin_11/12; 1.
DR PRINTS; PR02025; AQUAPORIN12.
DR PRINTS; PR00783; MINTRINSICP.
DR SUPFAM; SSF81338; SSF81338; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Membrane; Reference proteome; Repeat; Transmembrane;
KW Transmembrane helix; Transport.
FT CHAIN 1..295
FT /note="Aquaporin-12B"
FT /id="PRO_0000328826"
FT TRANSMEM 1..21
FT /note="Helical; Name=1"
FT /evidence="ECO:0000255"
FT TRANSMEM 55..75
FT /note="Helical; Name=2"
FT /evidence="ECO:0000255"
FT TRANSMEM 100..126
FT /note="Helical; Name=3"
FT /evidence="ECO:0000255"
FT TRANSMEM 146..166
FT /note="Helical; Name=4"
FT /evidence="ECO:0000255"
FT TRANSMEM 179..199
FT /note="Helical; Name=5"
FT /evidence="ECO:0000255"
FT TRANSMEM 216..236
FT /note="Helical; Name=6"
FT /evidence="ECO:0000255"
FT REGION 257..295
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 87..89
FT /note="NPA 1"
FT MOTIF 200..202
FT /note="NPA 2"
FT VAR_SEQ 41
FT /note="A -> AVGAVQLGACFLE (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_032800"
SQ SEQUENCE 295 AA; 31475 MW; 0C7CFB4B04541C94 CRC64;
MAGLNVSLSF FFATFTLCEA ARRASKALLP VGAYEVFARE AMRTLVELGP WAGDFGPDLL
LTLLFLLFLA HGVTLDGASA NPTVSLQEFL MAEESLPGTL LKLAAQGLGM QAACTLTRLC
WAWELSDLHL LQSLMAQSCS SALRTSVPHG ALVEAACAFC FHLTLLHLRH SPPAYSGPAV
ALLVTVTAYT AGPFTSAFFN PALAASVTFA CSGHTLLEYV QVYWLGPLTG MVLAVLLHQG
RLPHLFQRNL FYGQKNKYRA PRGKPAPASG DTQTPAKGSS VREPGRSGVE GPHSS
