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AQP7 aquaporin 7 [ Homo sapiens (human) ]

Gene ID: 364, updated on 21-Apr-2019

Summary

Official Symbol
AQP7provided by HGNC
Official Full Name
aquaporin 7provided by HGNC
Primary source
HGNC:HGNC:640
See related
Ensembl:ENSG00000165269 MIM:602974
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AQP7L; AQPap; GLYCQTL
Summary
This gene encodes a member of the aquaporin family of water-selective membrane channels. The encoded protein localizes to the plasma membrane and allows movement of water, glycerol and urea across cell membranes. This gene is highly expressed in the adipose tissue where the encoded protein facilitates efflux of glycerol. In the proximal straight tubules of kidney, the encoded protein is localized to the apical membrane and prevents excretion of glycerol into urine. The encoded protein is present in spermatids, as well as in the testicular and epididymal spermatozoa suggesting an important role in late spermatogenesis. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene is located adjacent to a related aquaporin gene on chromosome 9. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Dec 2015]
Expression
Biased expression in fat (RPKM 81.2), heart (RPKM 10.9) and 3 other tissues See more
Orthologs

Genomic context

See AQP7 in Genome Data Viewer
Location:
9p13.3
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (33383135..33402682, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (33384948..33402643, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene nucleus accumbens associated 1, BEN and BTB (POZ) domain containing pseudogene Neighboring gene nuclear transcription factor, X-box binding 1 Neighboring gene uncharacterized LOC105376018 Neighboring gene uncharacterized LOC105376020 Neighboring gene aquaporin 3 (Gill blood group) Neighboring gene microRNA 6851 Neighboring gene nucleolar protein 6

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Aquaporin-mediated transport, organism-specific biosystem (from REACTOME)
    Aquaporin-mediated transport, organism-specific biosystemAquaporins (AQP's) are six-pass transmembrane proteins that form channels in membranes. Each monomer contains a central channel formed in part by two asparagine-proline-alanine motifs (NPA boxes) tha...
  • PPAR signaling pathway, organism-specific biosystem (from KEGG)
    PPAR signaling pathway, organism-specific biosystemPeroxisome proliferator-activated receptors (PPARs) are nuclear hormone receptors that are activated by fatty acids and their derivatives. PPAR has three subtypes (PPARalpha, beta/delta, and gamma) s...
  • PPAR signaling pathway, conserved biosystem (from KEGG)
    PPAR signaling pathway, conserved biosystemPeroxisome proliferator-activated receptors (PPARs) are nuclear hormone receptors that are activated by fatty acids and their derivatives. PPAR has three subtypes (PPARalpha, beta/delta, and gamma) s...
  • Passive transport by Aquaporins, organism-specific biosystem (from REACTOME)
    Passive transport by Aquaporins, organism-specific biosystemAquaporins (AQP's) are six-pass transmembrane proteins that form channels in membranes. Each monomer contains a central channel formed in part by two asparagine-proline-alanine motifs (NPA boxes) tha...
  • Regulation of lipolysis in adipocytes, organism-specific biosystem (from KEGG)
    Regulation of lipolysis in adipocytes, organism-specific biosystemLipolysis in adipocytes, the hydrolysis of triacylglycerol (TAG) to release fatty acids (FAs) and glycerol for use by other organs as energy substrates, is a unique function of white adipose tissue. ...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
  • Transport of glycerol from adipocytes to the liver by Aquaporins, organism-specific biosystem (from REACTOME)
    Transport of glycerol from adipocytes to the liver by Aquaporins, organism-specific biosystemTriglycerides stored in adipocytes are hydrolyzed to yield fatty acids and glycerol. The glycerol is passively transported out of the adipocyte and into the bloodstream by Aquaporin-7 (AQP7) located ...

General gene information

Markers

Homology

Clone Names

  • MGC149555, MGC149556

Gene Ontology Provided by GOA

Function Evidence Code Pubs
glycerol channel activity EXP
Inferred from Experiment
more info
PubMed 
glycerol channel activity IDA
Inferred from Direct Assay
more info
PubMed 
water channel activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
glycerol transport IDA
Inferred from Direct Assay
more info
PubMed 
glycerol transport TAS
Traceable Author Statement
more info
 
urea transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
water transport IDA
Inferred from Direct Assay
more info
PubMed 
water transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cell-cell junction IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
aquaporin-7
Names
aquaglyceroporin-7
aquaporin adipose

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_027764.1 RefSeqGene

    Range
    4838..22570
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001170.3NP_001161.1  aquaporin-7 isoform 1

    See identical proteins and their annotated locations for NP_001161.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AB006190, AL356218, DC306826, DQ786216
    Consensus CDS
    CCDS6541.1
    UniProtKB/Swiss-Prot
    O14520
    Related
    ENSP00000297988.1, ENST00000297988.6
    Conserved Domains (1) summary
    cl00200
    Location:31280
    MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...
  2. NM_001318156.1NP_001305085.1  aquaporin-7 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in both UTRs and the coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus and a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    BC062701, DC306826, DQ786216
    Consensus CDS
    CCDS83353.1
    UniProtKB/TrEMBL
    Q6P5T0
    Related
    ENSP00000396111.2, ENST00000377425.8
    Conserved Domains (1) summary
    cl00200
    Location:2190
    MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...
  3. NM_001318157.1NP_001305086.1  aquaporin-7 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in both UTRs and the coding region, and initiates translation from an alternate start codon, compared to variant 1. The encoded isoform (3) is shorter and has distinct N- and C-termini, compared to isoform 1.
    Source sequence(s)
    AK297885, AL356218, BC119672, DC306826, DQ786216
    Consensus CDS
    CCDS83354.1
    UniProtKB/Swiss-Prot
    O14520
    UniProtKB/TrEMBL
    Q5T5M0
    Related
    ENSP00000368820.3, ENST00000379506.7
    Conserved Domains (1) summary
    cl00200
    Location:30246
    MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...
  4. NM_001318158.1NP_001305087.1  aquaporin-7 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) retains an intron in the 3' coding region which results in a frameshift, compared to variant 1. The resulting isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK297860, AL356218, BC119672, DC306826, DQ786216
    Consensus CDS
    CCDS83356.1
    UniProtKB/Swiss-Prot
    O14520
    UniProtKB/TrEMBL
    B7Z4U2
    Related
    ENSP00000485332.1, ENST00000624075.3
    Conserved Domains (1) summary
    cl00200
    Location:31247
    MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...

RNA

  1. NR_134513.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks multiple alternate exons and retains an intron in the 3' terminus, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK301949, AL356218, BC119672, DC306826, DQ786216
  2. NR_134514.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an alternate internal exon and retains an intron in the 3' terminus, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL356218, BC119672, DC306826, DQ786216
    Related
    ENST00000537089.5
  3. NR_134515.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) has multiple differences in exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK294028, AL356218, BC119672, DC306826, DQ786216

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    33383135..33402682 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017014701.1XP_016870190.1  aquaporin-7 isoform X5

    Conserved Domains (1) summary
    cl00200
    Location:1188
    MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...
  2. XM_024447536.1XP_024303304.1  aquaporin-7 isoform X4

    Conserved Domains (1) summary
    cl00200
    Location:31247
    MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...
  3. XM_005251453.3XP_005251510.1  aquaporin-7 isoform X1

    See identical proteins and their annotated locations for XP_005251510.1

    UniProtKB/Swiss-Prot
    O14520
    Conserved Domains (1) summary
    cl00200
    Location:31280
    MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...
  4. XM_011517867.2XP_011516169.1  aquaporin-7 isoform X3

    See identical proteins and their annotated locations for XP_011516169.1

    Conserved Domains (1) summary
    cl00200
    Location:2223
    MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...
  5. XM_006716765.3XP_006716828.1  aquaporin-7 isoform X3

    See identical proteins and their annotated locations for XP_006716828.1

    Conserved Domains (1) summary
    cl00200
    Location:2223
    MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...
  6. XM_017014704.1XP_016870193.1  aquaporin-7 isoform X5

    Conserved Domains (1) summary
    cl00200
    Location:1188
    MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...
  7. XM_024447535.1XP_024303303.1  aquaporin-7 isoform X4

    Conserved Domains (1) summary
    cl00200
    Location:31247
    MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...
  8. XM_017014700.1XP_016870189.1  aquaporin-7 isoform X2

    UniProtKB/TrEMBL
    Q5T5M1
    Related
    ENSP00000368821.3, ENST00000379507.7
  9. XM_011517866.3XP_011516168.1  aquaporin-7 isoform X1

    See identical proteins and their annotated locations for XP_011516168.1

    UniProtKB/Swiss-Prot
    O14520
    Conserved Domains (1) summary
    cl00200
    Location:31280
    MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...
  10. XM_017014706.2XP_016870195.1  aquaporin-7 isoform X6

  11. XM_017014705.2XP_016870194.1  aquaporin-7 isoform X5

    Conserved Domains (1) summary
    cl00200
    Location:1188
    MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...
  12. XM_017014702.2XP_016870191.1  aquaporin-7 isoform X5

    Conserved Domains (1) summary
    cl00200
    Location:1188
    MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...
  13. XM_024447537.1XP_024303305.1  aquaporin-7 isoform X5

    Conserved Domains (1) summary
    cl00200
    Location:1188
    MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...
  14. XM_024447539.1XP_024303307.1  aquaporin-7 isoform X7

    Related
    ENSP00000412868.2, ENST00000447660.3
    Conserved Domains (1) summary
    cl00200
    Location:1155
    MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...
  15. XM_024447538.1XP_024303306.1  aquaporin-7 isoform X5

    Conserved Domains (1) summary
    cl00200
    Location:1188
    MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...
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