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Protein

Aquaporin-7

Gene

AQP7

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

Functioni

Forms a channel for water and glycerol.

GO - Molecular functioni

GO - Biological processi

  • cellular water homeostasis Source: GO_Central
  • excretion Source: ProtInc
  • generation of precursor metabolites and energy Source: ProtInc
  • glycerol transport Source: Reactome
  • ion transmembrane transport Source: GO_Central
  • urea transmembrane transport Source: GO_Central
  • water transport Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000165269-MONOMER.
ReactomeiR-HSA-432030. Transport of glycerol from adipocytes to the liver by Aquaporins.
R-HSA-432047. Passive transport by Aquaporins.

Protein family/group databases

TCDBi1.A.8.9.6. the major intrinsic protein (mip) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Aquaporin-7
Short name:
AQP-7
Alternative name(s):
Aquaglyceroporin-7
Aquaporin adipose
Short name:
AQPap
Aquaporin-7-like
Gene namesi
Name:AQP7
Synonyms:AQP7L, AQP9
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:640. AQP7.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 36CytoplasmicSequence analysisAdd BLAST36
Transmembranei37 – 57HelicalSequence analysisAdd BLAST21
Topological domaini58 – 65ExtracellularSequence analysis8
Transmembranei66 – 86HelicalSequence analysisAdd BLAST21
Topological domaini87 – 113CytoplasmicSequence analysisAdd BLAST27
Transmembranei114 – 134HelicalSequence analysisAdd BLAST21
Topological domaini135 – 170ExtracellularSequence analysisAdd BLAST36
Transmembranei171 – 191HelicalSequence analysisAdd BLAST21
Topological domaini192 – 196CytoplasmicSequence analysis5
Transmembranei197 – 217HelicalSequence analysisAdd BLAST21
Topological domaini218 – 255ExtracellularSequence analysisAdd BLAST38
Transmembranei256 – 276HelicalSequence analysisAdd BLAST21
Topological domaini277 – 342CytoplasmicSequence analysisAdd BLAST66

GO - Cellular componenti

  • cell-cell junction Source: UniProtKB
  • cytoplasm Source: UniProtKB
  • integral component of plasma membrane Source: ProtInc
  • plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi364.
MIMi614411. phenotype.
OpenTargetsiENSG00000165269.
PharmGKBiPA24925.

Polymorphism and mutation databases

BioMutaiAQP7.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000639581 – 342Aquaporin-7Add BLAST342

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei20PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiO14520.
PRIDEiO14520.

PTM databases

iPTMnetiO14520.
PhosphoSitePlusiO14520.

Expressioni

Gene expression databases

BgeeiENSG00000165269.
CleanExiHS_AQP7.
HS_AQP9.
ExpressionAtlasiO14520. baseline and differential.
GenevisibleiO14520. HS.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000297988.

Structurei

3D structure databases

ProteinModelPortaliO14520.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi94 – 96NPA 13
Motifi226 – 228NPA 23

Domaini

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

Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0224. Eukaryota.
COG0580. LUCA.
GeneTreeiENSGT00510000046311.
HOVERGENiHBG106057.
InParanoidiO14520.
KOiK08771.
OMAiYLGAIIY.
OrthoDBiEOG091G0FMS.
PhylomeDBiO14520.
TreeFamiTF313173.

Family and domain databases

CDDicd00333. MIP. 1 hit.
Gene3Di1.20.1080.10. 1 hit.
InterProiIPR023271. Aquaporin-like.
IPR015686. Aquaporin_7.
IPR000425. MIP.
[Graphical view]
PANTHERiPTHR19139. PTHR19139. 1 hit.
PTHR19139:SF16. PTHR19139:SF16. 1 hit.
PfamiPF00230. MIP. 1 hit.
[Graphical view]
PRINTSiPR00783. MINTRINSICP.
SUPFAMiSSF81338. SSF81338. 1 hit.
TIGRFAMsiTIGR00861. MIP. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: O14520-1) [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
MVQASGHRRS TRGSKMVSWS VIAKIQEILQ RKMVREFLAE FMSTYVMMVF
60 70 80 90 100
GLGSVAHMVL NKKYGSYLGV NLGFGFGVTM GVHVAGRISG AHMNAAVTFA
110 120 130 140 150
NCALGRVPWR KFPVYVLGQF LGSFLAAATI YSLFYTAILH FSGGQLMVTG
160 170 180 190 200
PVATAGIFAT YLPDHMTLWR GFLNEAWLTG MLQLCLFAIT DQENNPALPG
210 220 230 240 250
TEALVIGILV VIIGVSLGMN TGYAINPSRD LPPRIFTFIA GWGKQVFSNG
260 270 280 290 300
ENWWWVPVVA PLLGAYLGGI IYLVFIGSTI PREPLKLEDS VAYEDHGITV
310 320 330 340
LPKMGSHEPT ISPLTPVSVS PANRSSVHPA PPLHESMALE HF
Length:342
Mass (Da):37,232
Last modified:January 1, 1998 - v1
Checksum:i8A05F92B977D2F93
GO
Isoform 2 (identifier: O14520-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-92: Missing.
     248-342: SNGENWWWVP...LHESMALEHF → RYCPCPGPFL

Show »
Length:165
Mass (Da):17,954
Checksum:i2C120155978F5311
GO

Polymorphismi

Genetic variations in AQP7 are responsible for changes in glycerol release during exercise and define the glycerol quantitative trait locus (GLYCQTL) [MIMi:614411].

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06725312R → C.1 PublicationCorresponds to variant rs139297434dbSNPEnsembl.1
Natural variantiVAR_06134338L → V.Corresponds to variant rs2381003dbSNPEnsembl.1
Natural variantiVAR_06725459V → L.1 PublicationCorresponds to variant rs4008659dbSNPEnsembl.1
Natural variantiVAR_06134463K → T.Corresponds to variant rs4008658dbSNPEnsembl.1
Natural variantiVAR_067255264G → V Polymorphism; affects water and glycerol transport. 2 PublicationsCorresponds to variant rs62542743dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0562491 – 92Missing in isoform 2. 2 PublicationsAdd BLAST92
Alternative sequenceiVSP_056250248 – 342SNGEN…ALEHF → RYCPCPGPFL in isoform 2. 2 PublicationsAdd BLAST95

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB006190 mRNA. Translation: BAA21745.1.
AB052626 Genomic DNA. Translation: BAC05693.1.
AK300716 mRNA. Translation: BAH13332.1.
AK315879 mRNA. Translation: BAF98770.1.
AL356218 Genomic DNA. Translation: CAI13309.1.
BC119672 mRNA. Translation: AAI19673.1.
BC119673 mRNA. Translation: AAI19674.1.
CCDSiCCDS6541.1. [O14520-1]
PIRiJC5791.
RefSeqiNP_001161.1. NM_001170.2. [O14520-1]
NP_001305086.1. NM_001318157.1.
NP_001305087.1. NM_001318158.1.
XP_005251510.1. XM_005251453.3. [O14520-1]
XP_011516168.1. XM_011517866.2. [O14520-1]
UniGeneiHs.455323.

Genome annotation databases

EnsembliENST00000297988; ENSP00000297988; ENSG00000165269. [O14520-1]
ENST00000447660; ENSP00000412868; ENSG00000165269. [O14520-2]
GeneIDi364.
KEGGihsa:364.
UCSCiuc003zst.3. human. [O14520-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB006190 mRNA. Translation: BAA21745.1.
AB052626 Genomic DNA. Translation: BAC05693.1.
AK300716 mRNA. Translation: BAH13332.1.
AK315879 mRNA. Translation: BAF98770.1.
AL356218 Genomic DNA. Translation: CAI13309.1.
BC119672 mRNA. Translation: AAI19673.1.
BC119673 mRNA. Translation: AAI19674.1.
CCDSiCCDS6541.1. [O14520-1]
PIRiJC5791.
RefSeqiNP_001161.1. NM_001170.2. [O14520-1]
NP_001305086.1. NM_001318157.1.
NP_001305087.1. NM_001318158.1.
XP_005251510.1. XM_005251453.3. [O14520-1]
XP_011516168.1. XM_011517866.2. [O14520-1]
UniGeneiHs.455323.

3D structure databases

ProteinModelPortaliO14520.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000297988.

Protein family/group databases

TCDBi1.A.8.9.6. the major intrinsic protein (mip) family.

PTM databases

iPTMnetiO14520.
PhosphoSitePlusiO14520.

Polymorphism and mutation databases

BioMutaiAQP7.

Proteomic databases

PaxDbiO14520.
PRIDEiO14520.

Protocols and materials databases

DNASUi364.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000297988; ENSP00000297988; ENSG00000165269. [O14520-1]
ENST00000447660; ENSP00000412868; ENSG00000165269. [O14520-2]
GeneIDi364.
KEGGihsa:364.
UCSCiuc003zst.3. human. [O14520-1]

Organism-specific databases

CTDi364.
DisGeNETi364.
GeneCardsiAQP7.
H-InvDBHIX0008072.
HIX0034850.
HIX0034865.
HGNCiHGNC:640. AQP7.
MIMi602974. gene.
614411. phenotype.
neXtProtiNX_O14520.
OpenTargetsiENSG00000165269.
PharmGKBiPA24925.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0224. Eukaryota.
COG0580. LUCA.
GeneTreeiENSGT00510000046311.
HOVERGENiHBG106057.
InParanoidiO14520.
KOiK08771.
OMAiYLGAIIY.
OrthoDBiEOG091G0FMS.
PhylomeDBiO14520.
TreeFamiTF313173.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000165269-MONOMER.
ReactomeiR-HSA-432030. Transport of glycerol from adipocytes to the liver by Aquaporins.
R-HSA-432047. Passive transport by Aquaporins.

Miscellaneous databases

GeneWikiiAQP7.
GenomeRNAii364.
PROiO14520.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000165269.
CleanExiHS_AQP7.
HS_AQP9.
ExpressionAtlasiO14520. baseline and differential.
GenevisibleiO14520. HS.

Family and domain databases

CDDicd00333. MIP. 1 hit.
Gene3Di1.20.1080.10. 1 hit.
InterProiIPR023271. Aquaporin-like.
IPR015686. Aquaporin_7.
IPR000425. MIP.
[Graphical view]
PANTHERiPTHR19139. PTHR19139. 1 hit.
PTHR19139:SF16. PTHR19139:SF16. 1 hit.
PfamiPF00230. MIP. 1 hit.
[Graphical view]
PRINTSiPR00783. MINTRINSICP.
SUPFAMiSSF81338. SSF81338. 1 hit.
TIGRFAMsiTIGR00861. MIP. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiAQP7_HUMAN
AccessioniPrimary (citable) accession number: O14520
Secondary accession number(s): Q08E94, Q5T5L9, Q8NHM3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: January 1, 1998
Last modified: November 2, 2016
This is version 134 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 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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 one 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.