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AQP7 aquaporin 7 [ Homo sapiens (human) ]

Gene ID: 364, updated on 26-Oct-2022

Summary

Official Symbol
AQP7provided by HGNC
Official Full Name
aquaporin 7provided by HGNC
Primary source
HGNC:HGNC:640
See related
Ensembl:ENSG00000165269 MIM:602974; AllianceGenome:HGNC:640
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
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Genomic context

See AQP7 in Genome Data Viewer
Location:
9p13.3
Exon count:
10
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (33383191..33402568, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (33401795..33421171, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (33383189..33402566, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene nuclear transcription factor, X-box binding 1 Neighboring gene uncharacterized LOC105376018 Neighboring gene uncharacterized LOC124902142 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:33391076-33391862 Neighboring gene Sharpr-MPRA regulatory region 4081 Neighboring gene uncharacterized LOC105376020 Neighboring gene Sharpr-MPRA regulatory region 5008 Neighboring gene aquaporin 3 (Gill blood group)

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 Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC149555, MGC149556

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables glycerol channel activity EXP
Inferred from Experiment
more info
PubMed 
enables glycerol channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables glycerol channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables urea transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables water channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables water channel activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in glycerol transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in glycerol transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in glycerol transmembrane transport TAS
Traceable Author Statement
more info
 
involved_in urea transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in water transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in water transport IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
is_active_in basolateral plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cell cortex IEA
Inferred from Electronic Annotation
more info
 
located_in cell-cell junction IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
located_in lipid droplet IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
aquaporin-7
Names
aquaglyceroporin-7
aquaporin adipose

NCBI Reference Sequences (RefSeq)

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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
    4952..24329
    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). Variants 1 and 8 encode the same isoform.
    Source sequence(s)
    AB006190, AL356218, DC306826, DQ786216
    Consensus CDS
    CCDS6541.1
    UniProtKB/Swiss-Prot
    O14520, Q8NHM3
    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_001318156.2NP_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)
    AL356218, 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_001318157.2NP_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_001318158.2NP_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, 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 ...
  5. NM_001376191.1NP_001363120.1  aquaporin-7 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL356218
    Consensus CDS
    CCDS6541.1
    UniProtKB/Swiss-Prot
    Q8NHM3
    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 ...
  6. NM_001376192.1NP_001363121.1  aquaporin-7 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL356218
    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 ...
  7. NM_001376193.1NP_001363122.1  aquaporin-7 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL356218
    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_134513.2 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, DQ786216
  2. NR_134514.2 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_134515.2 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
  4. NR_164778.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL356218
  5. NR_164779.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL356218

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    33383191..33402568 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    33401795..33421171 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)