Atp6ap1 MGI Mouse Gene Detail - MGI:109629 - ATPase, H+ transporting, lysosomal accessory protein 1

Atp6ap1 Gene Detail

Symbol

Atp6ap1
Name

ATPase, H+ transporting, lysosomal accessory protein 1
Synonyms

16A, AC45, Atp6ip1, Atp6s1, CF2, VATPS1, XAP-3

Feature Type

protein coding gene
IDs

MGI:109629
NCBI Gene: 54411
Gene Overview

MyGene.info: ATP6AP1

Sequence Map

ChrX:74297097-74304721 bp, + strand
From VEGA annotation of GRCm38

Mouse Genome Browser
Download
Sequence

7625 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome X, 37.96 cM
Mapping Data

3 experiments

Human Ortholog

ATP6AP1, ATPase H+ transporting accessory protein 1

Vertebrate Orthologs

9

Human Ortholog

ATP6AP1, ATPase H+ transporting accessory protein 1
Orthology source: HomoloGene, HGNC
Synonyms

16A, Ac45, ATP6IP1, ATP6S1, CF2, VATPS1, XAP3, XAP-3
Links

HGNC:868

NCBI Gene ID: 537

neXtProt AC: NX_Q15904
Chr Location

Xq28; chrX:154428632-154436517 (+) GRCh38.p2

HomoloGene

Vertebrate Homology Class 914
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;2 zebrafish;1 frog, western clawed
HCOP

human homology predictions: ATP6AP1
Gene Tree

Atp6ap1

Diseases

1 with human ATP6AP1 associations

				Human Disease	Mouse Models
				Immunodeficiency 47; IMD47 OMIM: 300972

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

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Phenotype Summary

6 phenotypes from 2 alleles in 2 genetic backgrounds
1 images
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

9
Gene trapped

3
Targeted

6

A targeted mutation in this X-linked gene was made in male ES cells, but no viable chimeric mice were produced, suggesting a requirement for this gene in prenatal development.

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All GO Annotations

23
GO References

5

External Resources

FuncBase

Molecular Function

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

Biological Process

nucleic acid-templated transcription	carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	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	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	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

129
Tissues

100
cDNA Data

259
Literature Summary

3

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO
Other Vertebrate Links

Xenbase atp6ap1.2, LOC100487454

ZFIN atp6ap1a, atp6ap1b

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Atp6ap1 interacts with 137 markers (Mir7-1, Mir7-2, Mir7b, ...) View All

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All Sequences

83
RefSeq

4
UniProt

14
CCDS

CCDS30226.1
UniGene

21961

			Length	Strain/Species	Flank
genomic	OTTMUSG00000017676	VEGA Gene Model \| MGI Sequence Detail	7625	C57BL/6J	± kb
transcript	OTTMUST00000042874	VEGA \| MGI Sequence Detail	2189	Not Applicable
polypeptide	OTTMUSP00000019259	VEGA \| MGI Sequence Detail	463	Not Applicable

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SNPs within 2kb

10 from dbSNP Build 142

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UniProt

14 Sequences
Protein Ontology

PR:000004468 V-type proton ATPase subunit S1
InterPro Domains

IPR008388 ATPase, V1 complex, subunit S1

IPR024722 ATPase V1 complex, subunit S1 family

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All nucleic 267

Genomic 7

cDNA 260

Microarray probesets 3

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MGD-MRK-39628, MGI:2147865, MGI:2147998

Summaries

All 42

Developmental Gene Expression 3

Gene Ontology 5

Phenotypes 11
Earliest

J:26634 Rivella S, et al., A comparative transcriptional map of a region of 250 kb on the human and mouse X chromosome between the G6PD and the FLN1 genes. Genomics. 1995 Aug 10;28(3):377-82
Latest

J:211452 Yang DQ, et al., V-ATPase subunit ATP6AP1 (Ac45) regulates osteoclast differentiation, extracellular acidification, lysosomal trafficking, and protease exocytosis in osteoclast-mediated bone resorption. J Bone Miner Res. 2012 Aug;27(8):1695-707

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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