AQP1

aquaporin 1 (Colton blood group), the group of Blood group antigens|Aquaporins

Basic information

Region (hg38): 7:30911853-30925517

Previous symbols: [ "CO" ]

Links

ENSG00000240583 ∙ NCBI:358 ∙ OMIM:107776 ∙ HGNC:633 ∙ Uniprot:P29972 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• pulmonary arterial hypertension (Limited), mode of inheritance: AD
• pulmonary arterial hypertension (Limited), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Blood group, Colton	BG	Hematologic	Variants associated with a blood group may be important in specific situations (eg, related to transfusion)	Hematologic	7521540; 7521882; 11606828; 11463012; 11773634

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the AQP1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AQP1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				8	3	11
missense			14	2	3	19
nonsense						0
start loss						0
frameshift						0
inframe indel			1			1
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				3	11	14
Total	0	0	15	13	17

Variants in AQP1

This is a list of pathogenic ClinVar variants found in the AQP1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
7-30911929-A-G		not specified	Uncertain significance (Feb 28, 2023)
7-30911938-T-G		not specified	Uncertain significance (Dec 27, 2023)
7-30911956-C-T		not specified	Uncertain significance (May 24, 2024)
7-30911971-C-T		not specified	Likely benign (Mar 21, 2023)
7-30911974-C-A			Uncertain significance (Jul 25, 2021)
7-30912022-C-T		Colton-null phenotype	Pathogenic (Sep 09, 1994)
7-30912023-G-A			Benign (Dec 08, 2023)
7-30912043-C-T		COLTON BLOOD GROUP POLYMORPHISM	Benign (Jan 07, 2024)
7-30912049-A-G			Uncertain significance (Jun 17, 2023)
7-30912057-G-A		not specified	Uncertain significance (Nov 01, 2022)
7-30912089-C-T		AQP1-related disorder	Benign (Jan 16, 2024)
7-30912094-C-T		not specified	Uncertain significance (Jan 08, 2024)
7-30912095-G-A			Likely benign (Dec 07, 2023)
7-30912128-C-T			Likely benign (Dec 24, 2021)
7-30912192-C-T		not specified	Uncertain significance (Jan 10, 2022)
7-30912216-G-C		not specified	Uncertain significance (Jul 30, 2023)
7-30912228-G-A		AQP1-related disorder	Benign (Aug 17, 2023)
7-30912229-T-G			Benign (Nov 27, 2023)
7-30912230-C-T			Likely benign (Dec 12, 2023)
7-30921380-G-A			Benign (May 10, 2021)
7-30922056-T-A			Benign (Dec 28, 2021)
7-30922085-C-T		not specified	Uncertain significance (Jan 26, 2022)
7-30922086-G-A			Benign (Jul 16, 2023)
7-30922105-G-A		not specified	Uncertain significance (Dec 13, 2021)
7-30922134-A-G			Likely benign (Jan 31, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AQP1	protein_coding	protein_coding	ENST00000311813	4	72122

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0933	0.873	125730	0	18	125748	0.0000716

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.544	156	176	0.885	0.0000119	1730
Missense in Polyphen		73	87.404	0.8352		867
Synonymous	-0.851	92	82.2	1.12	0.00000654	592
Loss of Function	1.81	3	8.80	0.341	4.81e-7	82

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000119	0.000119
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000708	0.0000703
Middle Eastern	0.0000544	0.0000544
South Asian	0.000131	0.000131
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Forms a water-specific channel that provides the plasma membranes of red cells and kidney proximal tubules with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient. {ECO:0000269|PubMed:1373524}.
• Pathway: Bile secretion - Homo sapiens (human);Proximal tubule bicarbonate reclamation - Homo sapiens (human);Renin secretion - Homo sapiens (human);Polythiazide Action Pathway;Methyclothiazide Action Pathway;Bumetanide Action Pathway;Spironolactone Action Pathway;Eplerenone Action Pathway;Triamterene Action Pathway;Amiloride Action Pathway;Ethacrynic Acid Action Pathway;Quinethazone Action Pathway;Bendroflumethiazide Action Pathway;Chlorthalidone Action Pathway;Trichlormethiazide Action Pathway;Iminoglycinuria;Lysinuric Protein Intolerance;Blue diaper syndrome;Lysinuric protein intolerance (LPI);Cystinuria;Indapamide Action Pathway;Furosemide Action Pathway;Torsemide Action Pathway;Hartnup Disorder;Glucose Transporter Defect (SGLT2);Kidney Function;Glucose Transporter Defect (SGLT2);Metolazone Action Pathway;Hydrochlorothiazide Action Pathway;Cyclothiazide Action Pathway;Hydroflumethiazide Action Pathway;Chlorothiazide Action Pathway;Spinal Cord Injury;O2/CO2 exchange in erythrocytes;Transport of small molecules;Erythrocytes take up oxygen and release carbon dioxide;Erythrocytes take up carbon dioxide and release oxygen;Passive transport by Aquaporins;Vasopressin regulates renal water homeostasis via Aquaporins;Aquaporin-mediated transport (Consensus)

Recessive Scores

• pRec: 0.406

Intolerance Scores

• loftool: 0.111
• rvis_EVS: 0.04
• rvis_percentile_EVS: 57.15

Haploinsufficiency Scores

• pHI: 0.705
• hipred: N
• hipred_score: 0.139
• ghis: 0.476

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.755

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Aqp1
• Phenotype: growth/size/body region phenotype; endocrine/exocrine gland phenotype; homeostasis/metabolism phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; skeleton phenotype; renal/urinary system phenotype

Zebrafish Information Network

• Gene name: aqp1a.1
• Affected structure: vH ionocyte
• Phenotype tag: abnormal
• Phenotype quality: decreased process quality

Gene ontology

• Biological process: renal water homeostasis;renal water transport;potassium ion transport;water transport;cell volume homeostasis;hyperosmotic response;carbon dioxide transport;ammonium transport;bicarbonate transport;glycerol transport;cellular homeostasis;cGMP-mediated signaling;lateral ventricle development;pancreatic juice secretion;nitric oxide transport;establishment or maintenance of actin cytoskeleton polarity;cerebrospinal fluid secretion;cellular response to UV;transepithelial water transport;carbon dioxide transmembrane transport;odontogenesis;response to drug;negative regulation of apoptotic process;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;positive regulation of angiogenesis;positive regulation of saliva secretion;positive regulation of fibroblast proliferation;multicellular organismal water homeostasis;cellular response to hydrogen peroxide;cellular response to inorganic substance;cellular response to mechanical stimulus;cellular response to copper ion;cellular response to mercury ion;cellular response to retinoic acid;cellular response to cAMP;cellular response to hypoxia;cellular response to salt stress;cellular hyperosmotic response;cellular response to dexamethasone stimulus;cellular response to nitric oxide;potassium ion transmembrane transport;ammonium transmembrane transport;maintenance of symbiont-containing vacuole by host
• Cellular component: nucleus;cytoplasm;plasma membrane;integral component of plasma membrane;brush border;basal plasma membrane;integral component of membrane;basolateral plasma membrane;apical plasma membrane;symbiont-containing vacuole;symbiont-containing vacuole membrane;brush border membrane;nuclear membrane;sarcolemma;apical part of cell;extracellular exosome
• Molecular function: intracellular cGMP-activated cation channel activity;potassium channel activity;water transmembrane transporter activity;protein binding;ammonium transmembrane transporter activity;potassium ion transmembrane transporter activity;glycerol transmembrane transporter activity;water channel activity;transmembrane transporter activity;nitric oxide transmembrane transporter activity;carbon dioxide transmembrane transporter activity;identical protein binding