AQP7 aquaporin 7 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 9p13.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (33383191..33402568, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (33401795..33421171, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (33383189..33402566, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Important Role of Aquaglyceroporin 7 in Health and Disease.
Title: The Important Role of Aquaglyceroporin 7 in Health and Disease.
Aquaporin-7-Mediated Glycerol Permeability Is Linked to Human Sperm Motility in Asthenozoospermia and during Sperm Capacitation.
Title: Aquaporin-7-Mediated Glycerol Permeability Is Linked to Human Sperm Motility in Asthenozoospermia and during Sperm Capacitation.
Cryo-EM structure supports a role of AQP7 as a junction protein.
Title: Cryo-EM structure supports a role of AQP7 as a junction protein.
Cholecystokinin promotes functional expression of the aquaglycerol channel aquaporin 7 in adipocytes.
Title: Cholecystokinin promotes functional expression of the aquaglycerol channel aquaporin 7 in adipocytes.
[Association study of single nucleotide polymorphisms of AQP7 and AQP9 genes with type 2 diabetes mellitus among ethnic Han Chinese population].
Title: [Association study of single nucleotide polymorphisms of AQP7 and AQP9 genes with type 2 diabetes mellitus among ethnic Han Chinese population].
Aquaglyceroporins and orthodox aquaporins in human adipocytes.
Title: Aquaglyceroporins and orthodox aquaporins in human adipocytes.
Association of Aquaporin-3, Aquaporin-7, NOS3 and CYBA polymorphisms with hypertensive disorders in women.
Title: Association of Aquaporin-3, Aquaporin-7, NOS3 and CYBA polymorphisms with hypertensive disorders in women.
AQP7 mediates post-menopausal lipogenesis in adipocytes through FSH-induced transcriptional crosstalk with AP-1 sites.
Title: AQP7 mediates post-menopausal lipogenesis in adipocytes through FSH-induced transcriptional crosstalk with AP-1 sites.
Different expression and localization of aquaporin 7 and aquaporin 9 in granulosa cells, oocytes, and embryos of patients with polycystic ovary syndrome and the negatively correlated relationship with insulin regulation.
Title: Different expression and localization of aquaporin 7 and aquaporin 9 in granulosa cells, oocytes, and embryos of patients with polycystic ovary syndrome and the negatively correlated relationship with insulin regulation.
Structural Basis for Glycerol Efflux and Selectivity of Human Aquaporin 7.
Title: Structural Basis for Glycerol Efflux and Selectivity of Human Aquaporin 7.

Submit: New GeneRIF Correction See all GeneRIFs (40)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
GLYCEROL QUANTITATIVE TRAIT LOCUS MedGen: C3280715 OMIM: 614411 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:480786

RH64915 (e-PCR)
- UniSTS:86839

D1S1423 (e-PCR)
- UniSTS:149619

G43491 (e-PCR)
- UniSTS:94951

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
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
enables urea transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables water channel activity	IBA Inferred from Biological aspect of Ancestor more info
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
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
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
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
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

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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

NG_027764.1 RefSeqGene

Range

4952..24329

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001170.3 → NP_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, Q08E94, Q5T5L9, Q8NHM3

UniProtKB/TrEMBL

Q5T5M1

Related

ENSP00000297988.1, ENST00000297988.6

Conserved Domains (1) summary

cl00200
Location:31 → 280

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 ...
NM_001318156.2 → NP_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:2 → 190

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 ...
NM_001318157.2 → NP_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/TrEMBL

Q5T5M0

Related

ENSP00000368820.3, ENST00000379506.7

Conserved Domains (1) summary

cl00200
Location:30 → 246

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 ...
NM_001318158.2 → NP_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/TrEMBL

B7Z4U2

Related

ENSP00000485332.1, ENST00000624075.3

Conserved Domains (1) summary

cl00200
Location:31 → 247

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 ...
NM_001376191.1 → NP_001363120.1 aquaporin-7 isoform 1

Status: REVIEWED

Source sequence(s)

AL356218

Consensus CDS

CCDS6541.1

UniProtKB/Swiss-Prot

O14520, Q08E94, Q5T5L9, Q8NHM3

UniProtKB/TrEMBL

Q5T5M1

Conserved Domains (1) summary

cl00200
Location:31 → 280

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 ...
NM_001376192.1 → NP_001363121.1 aquaporin-7 isoform 5

Status: REVIEWED

Source sequence(s)

AL356218

Conserved Domains (1) summary

cl00200
Location:31 → 247

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 ...
NM_001376193.1 → NP_001363122.1 aquaporin-7 isoform 5

Status: REVIEWED

Source sequence(s)

AL356218

Conserved Domains (1) summary

cl00200
Location:31 → 247

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

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
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
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
NR_164778.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL356218
NR_164779.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL356218