Seroatlas · Human Serome Atlas

AQP1

Aquaporin-1

Also known as: AQP1_HUMAN, CHIP28, CO

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P29972
Gene
AQP1
Ensembl
ENSG00000240583
Chromosome
7
Canonical length
269 aa
Protein class
Blood group antigen proteins, Metabolic proteins, Predicted membrane proteins, Transporters
Subcellular location
Plasma membrane
Quaternary structure
Homotetramer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

269 residues, UniProt reviewed canonical sequence.

>P29972|AQP1
     1  MASEFKKKLF WRAVVAEFLA TTLFVFISIG SALGFKYPVG NNQTAVQDNV KVSLAFGLSI
    61  ATLAQSVGHI SGAHLNPAVT LGLLLSCQIS IFRALMYIIA QCVGAIVATA ILSGITSSLT
   121  GNSLGRNDLA DGVNSGQGLG IEIIGTLQLV LCVLATTDRR RRDLGGSAPL AIGLSVALGH
   181  LLAIDYTGCG INPARSFGSA VITHNFSNHW IFWVGPFIGG ALAVLIYDFI LAPRSSDLTD
   241  RVKVWTSGQV EEYDLDADDI NSRVEMKPK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AQP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
6
Mean surface accessibility (rSASA)
0.27
Highest tissue expression
766 nTPM

Expression across tissuesHPA

Tissue

  • blood vessel: 766 nTPM
  • choroid plexus: 765 nTPM
  • kidney: 489 nTPM
  • lung: 447 nTPM
  • adipose tissue: 390 nTPM
  • tongue: 363 nTPM

Single-cell type

  • vascular endothelial cells: 741 nCPM
  • alveolar cells type 1: 467 nCPM
  • alveolar cells type 2: 431 nCPM
  • cholangiocytes: 373 nCPM
  • pancreatic duct cells: 346 nCPM
  • mesothelial cells: 247 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • medulla oblongata: 1,084 nTPM
  • white matter: 875 nTPM
  • spinal cord: 740 nTPM
  • choroid plexus: 569 nTPM
  • midbrain: 375 nTPM
  • basal ganglia: 292 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AQP1.

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 90 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Colton-null phenotype
  • AQP1-related pulmonary hypertension

Disease | AutoantibodyPubMed

Conditions in which antibodies against AQP1 are reported. Each links to that disease's full target list.

ReferencesPubMed · IEDB

Publications for AQP1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Reference: AutoantibodyPubMed

10 publications

Show 5 more

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.88
gnomAD pLI
0.09
gnomAD missense Z
0.54
DepMap mean gene effect
0.09
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of AQP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads AQP1 as an antibody target. Whether an autoantibody or antibody against AQP1 could matter depends on whether native AQP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

AQP1 is annotated at the cell surface, where native AQP1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label AQP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/AQP1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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