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Protein

Aquaporin-12B

Gene

AQP12B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Functioni

Aquaporins facilitate the transport of water and small neutral solutes across cell membranes.By similarity

GO - Molecular functioni

  1. transporter activity Source: InterPro
Complete GO annotation...

Keywords - Biological processi

Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Aquaporin-12B
Short name:
AQP-12B
Gene namesi
Name:AQP12B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:6096. AQP12B.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei1 – 2121Helical; Name=1Sequence AnalysisAdd
BLAST
Transmembranei55 – 7521Helical; Name=2Sequence AnalysisAdd
BLAST
Transmembranei100 – 12627Helical; Name=3Sequence AnalysisAdd
BLAST
Transmembranei146 – 16621Helical; Name=4Sequence AnalysisAdd
BLAST
Transmembranei179 – 19921Helical; Name=5Sequence AnalysisAdd
BLAST
Transmembranei216 – 23621Helical; Name=6Sequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA29902.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 295295Aquaporin-12BPRO_0000328826Add
BLAST

Proteomic databases

PaxDbiA6NM10.
PRIDEiA6NM10.

Expressioni

Gene expression databases

BgeeiA6NM10.
CleanExiHS_AQP12B.
ExpressionAtlasiA6NM10. baseline.
GenevestigatoriA6NM10.

Organism-specific databases

HPAiHPA042216.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000384894.

Structurei

3D structure databases

ProteinModelPortaliA6NM10.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi87 – 893NPA 1
Motifi200 – 2023NPA 2

Domaini

Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA).

Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG46671.
GeneTreeiENSGT00530000063816.
HOGENOMiHOG000034023.
HOVERGENiHBG050557.
InParanoidiA6NM10.
KOiK09871.
OMAiLEHIIVY.
PhylomeDBiA6NM10.
TreeFamiTF320251.

Family and domain databases

Gene3Di1.20.1080.10. 1 hit.
InterProiIPR023271. Aquaporin-like.
IPR016697. Aquaporin_11/12.
IPR023265. Aquaporin_12.
IPR000425. MIP.
[Graphical view]
PANTHERiPTHR21191:SF8. PTHR21191:SF8. 1 hit.
PfamiPF00230. MIP. 1 hit.
[Graphical view]
PIRSFiPIRSF017529. Aquaporin_11/12. 1 hit.
PRINTSiPR02025. AQUAPORIN12.
PR00783. MINTRINSICP.
SUPFAMiSSF81338. SSF81338. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: A6NM10-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAGLNVSLSF FFATFTLCEA ARRASKALLP VGAYEVFARE AMRTLVELGP
60 70 80 90 100
WAGDFGPDLL LTLLFLLFLA HGVTLDGASA NPTVSLQEFL MAEESLPGTL
110 120 130 140 150
LKLAAQGLGM QAACTLTRLC WAWELSDLHL LQSLMAQSCS SALRTSVPHG
160 170 180 190 200
ALVEAACAFC FHLTLLHLRH SPPAYSGPAV ALLVTVTAYT AGPFTSAFFN
210 220 230 240 250
PALAASVTFA CSGHTLLEYV QVYWLGPLTG MVLAVLLHQG RLPHLFQRNL
260 270 280 290
FYGQKNKYRA PRGKPAPASG DTQTPAKGSS VREPGRSGVE GPHSS
Length:295
Mass (Da):31,475
Last modified:July 24, 2007 - v1
Checksum:i0C7CFB4B04541C94
GO
Isoform 2 (identifier: A6NM10-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     41-41: A → AVGAVQLGACFLE

Note: No experimental confirmation available.

Show »
Length:307
Mass (Da):32,664
Checksum:iFA1AE3E9D0060372
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei41 – 411A → AVGAVQLGACFLE in isoform 2. 1 PublicationVSP_032800

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC011298 Genomic DNA. No translation available.
BC139748 mRNA. Translation: AAI39749.1.
CCDSiCCDS46560.1. [A6NM10-2]
RefSeqiNP_001095937.1. NM_001102467.1. [A6NM10-2]
UniGeneiHs.437167.

Genome annotation databases

EnsembliENST00000407834; ENSP00000384894; ENSG00000185176. [A6NM10-2]
ENST00000621682; ENSP00000481577; ENSG00000185176. [A6NM10-1]
GeneIDi653437.
KEGGihsa:653437.
UCSCiuc010fzj.3. human. [A6NM10-2]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC011298 Genomic DNA. No translation available.
BC139748 mRNA. Translation: AAI39749.1.
CCDSiCCDS46560.1. [A6NM10-2]
RefSeqiNP_001095937.1. NM_001102467.1. [A6NM10-2]
UniGeneiHs.437167.

3D structure databases

ProteinModelPortaliA6NM10.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000384894.

Proteomic databases

PaxDbiA6NM10.
PRIDEiA6NM10.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000407834; ENSP00000384894; ENSG00000185176. [A6NM10-2]
ENST00000621682; ENSP00000481577; ENSG00000185176. [A6NM10-1]
GeneIDi653437.
KEGGihsa:653437.
UCSCiuc010fzj.3. human. [A6NM10-2]

Organism-specific databases

CTDi653437.
GeneCardsiGC02M241615.
HGNCiHGNC:6096. AQP12B.
HPAiHPA042216.
neXtProtiNX_A6NM10.
PharmGKBiPA29902.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG46671.
GeneTreeiENSGT00530000063816.
HOGENOMiHOG000034023.
HOVERGENiHBG050557.
InParanoidiA6NM10.
KOiK09871.
OMAiLEHIIVY.
PhylomeDBiA6NM10.
TreeFamiTF320251.

Miscellaneous databases

GenomeRNAii653437.
NextBioi123241.
PROiA6NM10.

Gene expression databases

BgeeiA6NM10.
CleanExiHS_AQP12B.
ExpressionAtlasiA6NM10. baseline.
GenevestigatoriA6NM10.

Family and domain databases

Gene3Di1.20.1080.10. 1 hit.
InterProiIPR023271. Aquaporin-like.
IPR016697. Aquaporin_11/12.
IPR023265. Aquaporin_12.
IPR000425. MIP.
[Graphical view]
PANTHERiPTHR21191:SF8. PTHR21191:SF8. 1 hit.
PfamiPF00230. MIP. 1 hit.
[Graphical view]
PIRSFiPIRSF017529. Aquaporin_11/12. 1 hit.
PRINTSiPR02025. AQUAPORIN12.
PR00783. MINTRINSICP.
SUPFAMiSSF81338. SSF81338. 1 hit.
ProtoNetiSearch...

Publicationsi

  1. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).

Entry informationi

Entry nameiAQ12B_HUMAN
AccessioniPrimary (citable) accession number: A6NM10
Secondary accession number(s): A4QPB9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: July 24, 2007
Last modified: March 4, 2015
This is version 68 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.