Atp13a3 MGI Mouse Gene Detail - MGI:2685387

Symbol

Atp13a3
Name

ATPase type 13A3
Synonyms

LOC224087, LOC224088, LOC385637

Feature Type

protein coding gene
IDs

MGI:2685387
NCBI Gene: 224088
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr16:30131241-30207674 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 16, 21.26 cM
Mapping Data

2 experiments

SNPs within 2kb

1377 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2685387	protein coding gene	Chr16:30131241-30224793 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0022712	protein coding gene	Chr16:28201892-28286968 (-)
A/J	MGP_AJ_G0022675	protein coding gene	Chr16:26906567-26985600 (-)
AKR/J	MGP_AKRJ_G0022649	protein coding gene	Chr16:27922864-28007342 (-)
BALB/cJ	MGP_BALBcJ_G0022679	protein coding gene	Chr16:27084555-27161440 (-)
C3H/HeJ	MGP_C3HHeJ_G0022444	protein coding gene	Chr16:28030407-28110964 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0023128	protein coding gene	Chr16:28810358-28895512 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0020646	protein coding gene	Chr16:27343590-27419592 (-)
CAST/EiJ	MGP_CASTEiJ_G0021972	protein coding gene	Chr16:28116327-28200314 (-)
CBA/J	MGP_CBAJ_G0022414	protein coding gene	Chr16:30023019-30111864 (-)
DBA/2J	MGP_DBA2J_G0022547	protein coding gene	Chr16:26786481-26863368 (-)
FVB/NJ	MGP_FVBNJ_G0022522	protein coding gene	Chr16:26758422-26841339 (-)
LP/J	MGP_LPJ_G0022614	protein coding gene	Chr16:28017257-28098733 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0022541	protein coding gene	Chr16:29551079-29631914 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023140	protein coding gene	Chr16:27886126-27971850 (-)
PWK/PhJ	MGP_PWKPhJ_G0021711	protein coding gene	Chr16:27084602-27163373 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0021542	protein coding gene	Chr16:27650025-27726216 (-)
WSB/EiJ	MGP_WSBEiJ_G0022016	protein coding gene	Chr16:27836154-27915797 (-)

Human Ortholog

ATP13A3, ATPase 13A3

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ATP13A3, ATPase 13A3
Synonyms

AFURS1, PPH5
Links

HGNC:24113

NCBI Gene ID: 79572

neXtProt AC: NX_Q9H7F0

UniProt: Q9H7F0
Chr Location

3q29; chr3:194402672-194498364 (-) GRCh38

MGI Vertebrate Homology

Atp13a3 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: ATP13A3
Gene Tree

Atp13a3

Diseases

1 with human ATP13A3 associations

				Human Disease	Mouse Models
				primary pulmonary hypertension IDs primary pulmonary hypertension DOID:14557 ICD10CM:I27.0 ICD9CM:416.0 OMIM:178600 OMIM:265400 OMIM:615342 OMIM:615343 OMIM:615344 ORDO:422 UMLS_CUI:C0152171

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

29 phenotypes from 1 allele in 1 genetic background
11 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

24
Endonuclease-mediated

4
Gene trapped

20
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

68 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

22
GO References

8

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

706
cDNA Data

7

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase atp13a3

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All Sequences

55
RefSeq

12
UniProt

4
CCDS

CCDS49820.1, CCDS49821.1

Ensembl

ENSMUSG00000022533 (Evidence)
NCBI Gene

224088

			Length	Strain/Species	Flank
genomic	224088	NCBI Gene Model \| MGI Sequence Detail	76434	C57BL/6J	± kb
transcript	NM_001128096	RefSeq \| MGI Sequence Detail	7310	Not Specified
polypeptide	Q5XF89	UniProt \| EBI \| MGI Sequence Detail	1219	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000029289 polyamine-transporting ATPase 13A3

(term hierarchy)
EC

7.6.2.16
InterPro Domains

IPR004014 Cation-transporting P-type ATPase, N-terminal

IPR036412 HAD-like superfamily

IPR023214 HAD superfamily

IPR047821 P5B-type ATPase

IPR047819 P5B-type ATPase, N-terminal

IPR001757 P-type ATPase

IPR008250 P-type ATPase, A domain superfamily

IPR023299 P-type ATPase, cytoplasmic domain N

IPR044492 P-type ATPase, haloacid dehalogenase domain

IPR018303 P-type ATPase, phosphorylation site

IPR006544 P-type ATPase, subfamily V

IPR023298 P-type ATPase, transmembrane domain superfamily
GlyGen

Q5XF89 2 sites, 2 N-linked glycans (2 sites)

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All nucleic 7

cDNA 7

Microarray probesets 5

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MGI:2146569, MGI:2685388, MGI:2686591

Summaries

All 38

Gene Ontology 8

Phenotypes 11
Earliest

J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
Latest

J:358006 Liu B, et al., ATP13A3 variants promote pulmonary arterial hypertension by disrupting polyamine transport. Cardiovasc Res. 2024 May 29;120(7):756-768

TSS for Atp13a3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr140717	Chr16:30208130-30208166 (-)	-474 bp
Tssr140716	Chr16:30207624-30207676 (-)	24 bp
Tssr140715	Chr16:30207586-30207620 (-)	71 bp
Tssr140714	Chr16:30207508-30207519 (-)	160 bp
Tssr140713	Chr16:30178064-30178068 (-)	29,608 bp
Tssr140712	Chr16:30140457-30140461 (-)	67,215 bp
Tssr140711	Chr16:30133651-30133662 (-)	74,017 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)
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