Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Aquaporin-7

Gene

AQP7

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

Functioni

Forms a channel for water and glycerol.

GO - Molecular functioni

GO - Biological processi

  • excretion Source: ProtInc
  • generation of precursor metabolites and energy Source: ProtInc
  • glycerol transport Source: Reactome
  • water transport Source: Reactome

Keywordsi

Biological processTransport

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000165269.12
HGNCiHGNC:640 AQP7
MIMi602974 gene
neXtProtiNX_O14520

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi364
MalaCardsiAQP7
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
PeptideAtlasiO14520
PRIDEiO14520
ProteomicsDBi48063

PTM databases

iPTMnetiO14520
PhosphoSitePlusiO14520

Expressioni

Gene expression databases

BgeeiENSG00000165269 Expressed in 89 organ(s), highest expression level in apex of heart
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
OMAiYLGGIIY
OrthoDBiEOG091G0FMS
PhylomeDBiO14520
TreeFamiTF313173

Family and domain databases

CDDicd00333 MIP, 1 hit
Gene3Di1.20.1080.10, 1 hit
InterProiView protein in InterPro
IPR023271 Aquaporin-like
IPR015686 Aquaporin_7
IPR000425 MIP
PANTHERiPTHR43829:SF12 PTHR43829:SF12, 1 hit
PfamiView protein in Pfam
PF00230 MIP, 1 hit
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

This entry has 2 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5T5M1Q5T5M1_HUMAN
Aquaporin-7
AQP7
341Annotation score:
B7Z4U2B7Z4U2_HUMAN
Aquaporin-7
AQP7
257Annotation score:
Q5T5M0Q5T5M0_HUMAN
cDNA FLJ52444, highly similar to Aq...
AQP7
256Annotation score:
Q6P5T0Q6P5T0_HUMAN
AQP7 protein
AQP7 hCG_2011318
216Annotation score:
Q5T5L3Q5T5L3_HUMAN
Aquaporin-7
AQP7
169Annotation score:
A0A096LNK2A0A096LNK2_HUMAN
Aquaporin-7
AQP7
80Annotation score:
A0A096LP64A0A096LP64_HUMAN
Aquaporin-7
AQP7
84Annotation score:
A0A096LNV7A0A096LNV7_HUMAN
Aquaporin-7
AQP7
50Annotation score:
A0A096LP23A0A096LP23_HUMAN
Aquaporin-7
AQP7
85Annotation score:
A0A096LNU3A0A096LNU3_HUMAN
Aquaporin-7
AQP7
51Annotation score:
There is more potential isoformShow all

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 → C1 PublicationCorresponds to variant dbSNP:rs139297434Ensembl.1
Natural variantiVAR_06134338L → V. Corresponds to variant dbSNP:rs2381003Ensembl.1
Natural variantiVAR_06725459V → L1 PublicationCorresponds to variant dbSNP:rs4008659Ensembl.1
Natural variantiVAR_06134463K → T. Corresponds to variant dbSNP:rs4008658Ensembl.1
Natural variantiVAR_067255264G → V Polymorphism; affects water and glycerol transport. 2 PublicationsCorresponds to variant dbSNP:rs62542743EnsemblClinVar.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 No translation available.
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

Similar proteinsi

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 No translation available.
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
PeptideAtlasiO14520
PRIDEiO14520
ProteomicsDBi48063

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
EuPathDBiHostDB:ENSG00000165269.12
GeneCardsiAQP7
H-InvDBiHIX0008072
HIX0034850
HIX0034865
HGNCiHGNC:640 AQP7
MalaCardsiAQP7
MIMi602974 gene
614411 phenotype
neXtProtiNX_O14520
OpenTargetsiENSG00000165269
PharmGKBiPA24925
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0224 Eukaryota
COG0580 LUCA
GeneTreeiENSGT00510000046311
HOVERGENiHBG106057
InParanoidiO14520
KOiK08771
OMAiYLGGIIY
OrthoDBiEOG091G0FMS
PhylomeDBiO14520
TreeFamiTF313173

Enzyme and pathway databases

ReactomeiR-HSA-432030 Transport of glycerol from adipocytes to the liver by Aquaporins
R-HSA-432047 Passive transport by Aquaporins

Miscellaneous databases

GeneWikiiAQP7
GenomeRNAii364
PROiPR:O14520
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000165269 Expressed in 89 organ(s), highest expression level in apex of heart
CleanExiHS_AQP7
HS_AQP9
ExpressionAtlasiO14520 baseline and differential
GenevisibleiO14520 HS

Family and domain databases

CDDicd00333 MIP, 1 hit
Gene3Di1.20.1080.10, 1 hit
InterProiView protein in InterPro
IPR023271 Aquaporin-like
IPR015686 Aquaporin_7
IPR000425 MIP
PANTHERiPTHR43829:SF12 PTHR43829:SF12, 1 hit
PfamiView protein in Pfam
PF00230 MIP, 1 hit
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 historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: January 1, 1998
Last modified: September 12, 2018
This is version 144 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again