AQP1 aquaporin 1 (Colton blood group) [Homo sapiens (human)] - Gene

Summary

Official Symbol: AQP1provided by HGNC
Official Full Name: aquaporin 1 (Colton blood group)provided by HGNC
Primary source: HGNC:HGNC:633
See related: Ensembl:ENSG00000240583 MIM:107776; AllianceGenome:HGNC:633
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: CO; CHIP28; AQP-CHIP
Summary: This gene encodes a small integral membrane protein with six bilayer spanning domains that functions as a water channel protein. This protein permits passive transport of water along an osmotic gradient. This gene is a possible candidate for disorders involving imbalance in ocular fluid movement. [provided by RefSeq, Aug 2016]
Expression: Broad expression in kidney (RPKM 409.8), lung (RPKM 246.0) and 15 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p14.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (30911853..30925516)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (31049501..31063163)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (30951468..30965131)

Chromosome 7 - NC_000007.14 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: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Tobacco aquaporin NtAQP1 and human aquaporin hAQP1 contribute to single cell photosynthesis in Synechococcus.
Title: Tobacco aquaporin NtAQP1 and human aquaporin hAQP1 contribute to single cell photosynthesis in Synechococcus.
AQP1 differentially orchestrates endothelial cell senescence.
Title: AQP1 differentially orchestrates endothelial cell senescence.
Effects of Modulating BMP9, BMPR2, and AQP1 on BMP Signaling in Human Pulmonary Microvascular Endothelial Cells.
Title: Effects of Modulating BMP9, BMPR2, and AQP1 on BMP Signaling in Human Pulmonary Microvascular Endothelial Cells.
Aquaporin 1 aggravates lipopolysaccharide-induced macrophage polarization and pyroptosis.
Title: Aquaporin 1 aggravates lipopolysaccharide-induced macrophage polarization and pyroptosis.
Shifting from ependyma to choroid plexus epithelium and the changing expressions of aquaporin-1 and aquaporin-4.
Title: Shifting from ependyma to choroid plexus epithelium and the changing expressions of aquaporin-1 and aquaporin-4.
A novel interaction between aquaporin 1 and caspase-3 in pulmonary arterial smooth muscle cells.
Title: A novel interaction between aquaporin 1 and caspase-3 in pulmonary arterial smooth muscle cells.
Hypo-osmolality activates Wnt/beta-catenin mediated by AQP1 in nucleus pulposus cells degeneration.
Title: Hypo-osmolality activates Wnt/β-catenin mediated by AQP1 in nucleus pulposus cells degeneration.
Overexpression of aquaporin-1 plays a vital role in proliferation, apoptosis, and pyroptosis of Wilms' tumor cells.
Title: Overexpression of aquaporin-1 plays a vital role in proliferation, apoptosis, and pyroptosis of Wilms' tumor cells.
Actin cytoskeleton aggregation involves the water channel protein aquaporin 1-mediated human chondrocyte degeneration.
Title: Actin cytoskeleton aggregation involves the water channel protein aquaporin 1-mediated human chondrocyte degeneration.
Identification of key genes and validation of key gene aquaporin 1 on Wilms' tumor metastasis.
Title: Identification of key genes and validation of key gene aquaporin 1 on Wilms' tumor metastasis.

Submit: New GeneRIF Correction See all GeneRIFs (252)

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
Colton Blood group system MedGen: C1292295 OMIM: 110450 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

WI-9113 (e-PCR)
- UniSTS:1576

AQP1 (e-PCR)
- UniSTS:77638

STS-M77829 (e-PCR)
- UniSTS:74097

G68146 (e-PCR)
- UniSTS:225975

G68147 (e-PCR)
- UniSTS:225976

G68149 (e-PCR)
- UniSTS:225977

T03581 (e-PCR)
- UniSTS:41679

D7S2041E (e-PCR)
- UniSTS:42447

D7S2755 (e-PCR)
- UniSTS:30673

D7S2065E (e-PCR)
- UniSTS:48609

A007C48 (e-PCR)
- UniSTS:22256

GDB:593256 (e-PCR)
- UniSTS:157948

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ammonium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables ammonium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables carbon dioxide transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables carbon dioxide transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables ephrin receptor binding	IEA Inferred from Electronic Annotation more info
enables glycerol transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables glycerol transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables hydrogen peroxide channel activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables intracellularly cGMP-activated cation channel activity	IDA Inferred from Direct Assay more info	PubMed
enables nitric oxide transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables potassium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables potassium ion transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables water channel activity	EXP Inferred from Experiment 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
enables water channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables water transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in ammonium transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in cGMP-mediated signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in camera-type eye morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in carbon dioxide transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in carbon dioxide transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in carbon dioxide transport	IDA Inferred from Direct Assay more info	PubMed
involved_in cell volume homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular hyperosmotic response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to UV	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to cAMP	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to cAMP	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to copper ion	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to dexamethasone stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to hydrogen peroxide	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to hypoxia	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to mechanical stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to mercury ion	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to nitric oxide	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to retinoic acid	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to salt stress	IDA Inferred from Direct Assay more info	PubMed
involved_in cerebrospinal fluid secretion	IEP Inferred from Expression Pattern more info	PubMed
involved_in corticotropin secretion	IEA Inferred from Electronic Annotation more info
involved_in defense response to Gram-negative bacterium	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of localization in cell	IEA Inferred from Electronic Annotation more info
involved_in establishment or maintenance of actin cytoskeleton polarity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fibroblast migration	IEA Inferred from Electronic Annotation more info
involved_in glomerular filtration	IEA Inferred from Electronic Annotation more info
involved_in glycerol transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in hydrogen peroxide transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in hyperosmotic response	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular water homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in lateral ventricle development	IEP Inferred from Expression Pattern more info	PubMed
involved_in lipid digestion	IEA Inferred from Electronic Annotation more info
involved_in metanephric descending thin limb development	IEA Inferred from Electronic Annotation more info
involved_in metanephric glomerulus vasculature development	IEA Inferred from Electronic Annotation more info
involved_in metanephric proximal convoluted tubule segment 2 development	IEA Inferred from Electronic Annotation more info
involved_in metanephric proximal straight tubule development	IEA Inferred from Electronic Annotation more info
involved_in multicellular organismal-level water homeostasis	IEP Inferred from Expression Pattern more info	PubMed
involved_in negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nitric oxide transport	IDA Inferred from Direct Assay more info	PubMed
involved_in odontogenesis	IEP Inferred from Expression Pattern more info	PubMed
involved_in pancreatic juice secretion	IEP Inferred from Expression Pattern more info	PubMed
involved_in positive regulation of angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of fibroblast migration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of fibroblast proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of saliva secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in potassium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in potassium ion transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in renal water absorption	IEA Inferred from Electronic Annotation more info
involved_in renal water homeostasis	TAS Traceable Author Statement more info
involved_in renal water transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in renal water transport	IDA Inferred from Direct Assay more info	PubMed
involved_in secretory granule organization	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of pain	IEA Inferred from Electronic Annotation more info
involved_in transepithelial water transport	IDA Inferred from Direct Assay more info	PubMed
involved_in water transport	IDA Inferred from Direct Assay more info	PubMed
involved_in water transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in wound healing	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of ankyrin-1 complex	IDA Inferred from Direct Assay more info	PubMed
located_in apical part of cell	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in axon	IEA Inferred from Electronic Annotation more info
located_in basal plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in brush border	IDA Inferred from Direct Assay more info	PubMed
located_in brush border membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular exosome	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
NOT located_in plasma membrane	IDA Inferred from Direct Assay 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
located_in sarcolemma	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: aquaporin-1

Names: Colton blood group antigen; aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group); aquaporin 1, Colton blood group antigen; aquaporin-CHIP; bloodgroup CO protein; channel-like integral membrane protein, 28-kDa; urine water channel; water channel protein for red blood cells and kidney proximal tubule

NP_001316801.1

EC 2.7.1.21

NP_932766.1

EC 2.7.1.21

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_007475.2 RefSeqGene

Range

63301..77124

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_808

mRNA and Protein(s)

NM_001329872.2 → NP_001316801.1 aquaporin-1 isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks a segment in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (5) has a longer, distinct C-terminus than isoform 1.

Source sequence(s)

AC004691, AC005155

UniProtKB/TrEMBL

A0A0M7BEW0, B2R6P2, B4F4P6
NM_198098.4 → NP_932766.1 aquaporin-1 isoform 1

See identical proteins and their annotated locations for NP_932766.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes isoform 1.

Source sequence(s)

AC005155, DA197236, M77829

Consensus CDS

CCDS5431.1

UniProtKB/Swiss-Prot

B5BU39, E7EM69, E9PC21, F5GY19, P29972, Q8TBI5, Q8TDC1

UniProtKB/TrEMBL

A0A024RA31, A0A0M7BEW0, B2R6P2, B4F4P6

Related

ENSP00000311165.4, ENST00000311813.11

Conserved Domains (1) summary

pfam00230
Location:4 → 227

MIP; Major intrinsic protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

30911853..30925516

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

31049501..31063163

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_000385.3: Suppressed sequence

Description

NM_000385.3: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
NM_001185060.1: Suppressed sequence

Description

NM_001185060.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
NM_001185061.1: Suppressed sequence

Description

NM_001185061.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
NM_001185062.1: Suppressed sequence

Description

NM_001185062.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.