Atp6v1h MGI Mouse Gene Detail - MGI:1914864 - ATPase, H+ transporting, lysosomal V1 subunit H

Symbol

Atp6v1h
Name

ATPase, H+ transporting, lysosomal V1 subunit H
Synonyms

0710001F19Rik

Feature Type

protein coding gene
IDs

MGI:1914864
NCBI Gene: 108664
Alliance

gene page
Transcription Start Sites

10 TSS

Sequence Map

Chr1:5153201-5233438 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 1.85 cM
Mapping Data

2 experiments

SNPs within 2kb

1450 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1914864	protein coding gene	Chr1:5140241-5233438 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0015815	protein coding gene	Chr1:2111511-2200183 (+)
A/J	MGP_AJ_G0015797	protein coding gene	Chr1:2204311-2294327 (+)
AKR/J	MGP_AKRJ_G0015756	protein coding gene	Chr1:2176438-2280671 (+)
BALB/cJ	MGP_BALBcJ_G0015753	protein coding gene	Chr1:2118032-2199812 (+)
C3H/HeJ	MGP_C3HHeJ_G0015587	protein coding gene	Chr1:2159080-2248340 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0016205	protein coding gene	Chr1:2232828-2333419 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0013927	protein coding gene	Chr1:1833965-1908662 (+)
CAST/EiJ	MGP_CASTEiJ_G0015167	protein coding gene	Chr1:2349424-2442853 (+)
CBA/J	MGP_CBAJ_G0015561	protein coding gene	Chr1:2389250-2482497 (+)
DBA/2J	MGP_DBA2J_G0015659	protein coding gene	Chr1:2111983-2194930 (+)
FVB/NJ	MGP_FVBNJ_G0015664	protein coding gene	Chr1:2071344-2163949 (+)
LP/J	MGP_LPJ_G0015732	protein coding gene	Chr1:2300025-2395894 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0015683	protein coding gene	Chr1:2550512-2644821 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016252	protein coding gene	Chr1:2137428-2236926 (+)
PWK/PhJ	MGP_PWKPhJ_G0014951	protein coding gene	Chr1:2034162-2123816 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0014731	protein coding gene	Chr1:2317812-2406998 (+)
WSB/EiJ	MGP_WSBEiJ_G0015231	protein coding gene	Chr1:2140430-2230821 (+)

Human Ortholog

ATP6V1H, ATPase H+ transporting V1 subunit H

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ATP6V1H, ATPase H+ transporting V1 subunit H
Synonyms

CGI-11, MSTP042, NBP1, SFD, SFDalpha, SFDbeta, VMA13
Links

HGNC:18303

NCBI Gene ID: 51606

neXtProt AC: NX_Q9UI12

UniProt: Q9UI12
Chr Location

8q11.23; chr8:53715543-53843558 (-) GRCh38

MGI Vertebrate Homology

Atp6v1h stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: ATP6V1H
Protein SuperFamily

ATPase_V1_H
Gene Tree

Atp6v1h

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Phenotype Summary

20 phenotypes from 2 alleles in 2 genetic backgrounds
13 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

20
Endonuclease-mediated

4
Gene trapped

14
Targeted

2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

28 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit embryonic lethality. Mice heterozygous for the allele exhbit bone loss with altered bone absorption and decreased bone formation.

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All GO Annotations

14
GO References

9

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

805
Tissues

99
cDNA Data

106
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase atp6v1h

ZFIN atp6v1h

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All Sequences

89
RefSeq

38
UniProt

6
CCDS

CCDS14808.1, CCDS78541.1

Ensembl

ENSMUSG00000033793 (Evidence)
NCBI Gene

108664

			Length	Strain/Species	Flank
genomic	108664	NCBI Gene Model \| MGI Sequence Detail	80238	C57BL/6J	± kb
transcript	NM_133826	RefSeq \| MGI Sequence Detail	2063	C57BL/6
polypeptide	Q8BVE3	UniProt \| EBI \| MGI Sequence Detail	483	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000004492 V-type proton ATPase subunit H

(term hierarchy)
PDB

9BRA, 9BRQ, 9BRR, 9BRS, 9BRT, 9BRU
InterPro Domains

IPR011989 Armadillo-like helical

IPR016024 Armadillo-type fold

IPR004908 ATPase, V1 complex, subunit H

IPR011987 ATPase, V1 complex, subunit H, C-terminal

IPR038497 ATPase, V1 complex, subunit H, C-terminal domain superfamily
GlyGen

Q8BVE3 1 site, 1 O-linked glycan (1 site)

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All nucleic 108

cDNA 108

Microarray probesets 4

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MGI:2138471

Summaries

All 46

Developmental Gene Expression 3

Gene Ontology 9

Phenotypes 13
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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Atp6v1h:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr5811	Chr1:5153328-5153383 (+)	155 bp
Tssr5812	Chr1:5153392-5153409 (+)	200 bp
Tssr5813	Chr1:5153429-5153440 (+)	234 bp
Tssr1	Chr1:5153744-5153753 (+)	548 bp
Tssr5814	Chr1:5153783-5153810 (+)	596 bp
Tssr5815	Chr1:5164359-5164363 (+)	11,160 bp
Tssr5816	Chr1:5168284-5168332 (+)	15,107 bp
Tssr5817	Chr1:5175549-5175557 (+)	22,352 bp
Tssr5818	Chr1:5185428-5185434 (+)	32,230 bp
Tssr5819	Chr1:5209606-5209611 (+)	56,408 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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