Aqp1 MGI Mouse Gene Detail - MGI:103201

Symbol

Aqp1
Name

aquaporin 1
Synonyms

CHIP28

Feature Type

protein coding gene
IDs

MGI:103201
NCBI Gene: 11826
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr6:55313417-55325540 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 6, 27.38 cM
Mapping Data

6 experiments

SNPs within 2kb

334 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_103201	protein coding gene	Chr6:55313284-55325540 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0030772	protein coding gene	Chr6:54737915-54750036 (+)
A/J	MGP_AJ_G0030741	protein coding gene	Chr6:52197331-52209452 (+)
AKR/J	MGP_AKRJ_G0030668	protein coding gene	Chr6:53973131-53985250 (+)
BALB/cJ	MGP_BALBcJ_G0030753	protein coding gene	Chr6:52570059-52582180 (+)
C3H/HeJ	MGP_C3HHeJ_G0030466	protein coding gene	Chr6:53996808-54008929 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0031208	protein coding gene	Chr6:55965139-55977262 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0028414	protein coding gene	Chr6:49807006-49819235 (+)
CAST/EiJ	MGP_CASTEiJ_G0029869	protein coding gene	Chr6:53847105-53861203 (+)
CBA/J	MGP_CBAJ_G0030440	protein coding gene	Chr6:58260531-58272652 (+)
DBA/2J	MGP_DBA2J_G0030590	protein coding gene	Chr6:52096165-52108286 (+)
FVB/NJ	MGP_FVBNJ_G0030542	protein coding gene	Chr6:51695611-51708278 (+)
LP/J	MGP_LPJ_G0030675	protein coding gene	Chr6:54672268-54684389 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0030576	protein coding gene	Chr6:60763030-60775151 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0031238	protein coding gene	Chr6:53943201-53955322 (+)
PWK/PhJ	MGP_PWKPhJ_G0029582	protein coding gene	Chr6:51762275-51774598 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0029416	protein coding gene	Chr6:53325909-53338155 (+)
WSB/EiJ	MGP_WSBEiJ_G0029946	protein coding gene	Chr6:53972917-53985038 (+)

Human Ortholog

AQP1, aquaporin 1 (Colton blood group)

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

AQP1, aquaporin 1 (Colton blood group)
Synonyms

AQP-CHIP, CHIP28, CO
Links

HGNC:633

NCBI Gene ID: 358

neXtProt AC: NX_P29972

UniProt: P29972
Chr Location

7p14.3; chr7:30911853-30925517 (+) GRCh38

MGI Vertebrate Homology

Aqp1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: AQP1
Gene Tree

Aqp1

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Phenotype Summary

34 phenotypes from 2 alleles in 3 genetic backgrounds
12 phenotypes from multigenic genotypes
94 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

10
Endonuclease-mediated

3
Targeted

7
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

23 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous mutation of this gene results in urine hypoosmality.

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All GO Annotations

168
GO References

47

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

1701
Tissues

271
cDNA Data

171
Literature Summary

113

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA AQP1

Xenbase aqp1

ZFIN aqp1a.1, aqp1a.2

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All Sequences

40
RefSeq

2
UniProt

2
CCDS

CCDS20164.1

Ensembl

ENSMUSG00000004655 (Evidence)
NCBI Gene

11826

			Length	Strain/Species	Flank
genomic	ENSMUSG00000004655	Ensembl Gene Model \| MGI Sequence Detail	12124	C57BL/6J	± kb
transcript	ENSMUST00000004774	Ensembl \| MGI Sequence Detail	2627	Not Applicable
polypeptide	ENSMUSP00000004774	Ensembl \| MGI Sequence Detail	269	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000004177 aquaporin-1

(term hierarchy)
InterPro Domains

IPR023274 Aquaporin 1

IPR023271 Aquaporin-like

IPR034294 Aquaporin transporter

IPR000425 Major intrinsic protein

IPR022357 Major intrinsic protein, conserved site
GlyGen

Q02013 3 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

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All nucleic 196

Genomic 8

cDNA 171

Primer pair 15

Other 2

Microarray probesets 4

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MGD-MRK-24069

Summaries

All 268

Developmental Gene Expression 113

Gene Ontology 47

Phenotypes 94
Earliest

J:27223 Lanahan A, et al., Growth factor-induced delayed early response genes. Mol Cell Biol. 1992 Sep;12(9):3919-29
Latest

J:353306 Ma YS, et al., Identification of countercurrent tubule-vessel arrangements in the early development of mouse kidney based on immunohistochemistry and computer-assisted 3D visualization. PLoS One. 2024;19(8):e0307223

TSS for Aqp1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr1855	Chr6:55313038-55313064 (+)	-366 bp
Tssr56654	Chr6:55313067-55313079 (+)	-344 bp
Tssr56655	Chr6:55313098-55313114 (+)	-311 bp
Tssr1856	Chr6:55313158-55313169 (+)	-253 bp
Tssr1857	Chr6:55313185-55313192 (+)	-228 bp
Tssr56656	Chr6:55313264-55313299 (+)	-135 bp
Tssr56657	Chr6:55313409-55313423 (+)	-1 bp
Tssr56658	Chr6:55313815-55313820 (+)	401 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/17/2024 MGI 6.24