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Gene: Vma21 (vacuolar ATPase assembly factor VMA21) Ictidomys tridecemlineatus

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Symbol:

Vma21

Name:

vacuolar ATPase assembly factor VMA21

RGD ID:

12628916

Description:

INVOLVED IN vacuolar proton-transporting V-type ATPase complex assembly (inferred); ASSOCIATED WITH autistic disorder (ortholog); autosomal hemophilia A (ortholog); centronuclear myopathy X-linked (ortholog); FOUND IN cytoplasmic vesicle (inferred); endoplasmic reticulum (inferred); endoplasmic reticulum membrane (inferred)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

vacuolar ATPase assembly integral membrane protein VMA21; VMA21 vacuolar H+-ATPase homolog; VMA21, vacuolar ATPase assembly factor; VMA21, vacuolar ATPase assembly factor, transcript variant X1; VMA21, vacuolar ATPase assembly factor, transcript variant X2

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Latest Assembly:

SpeTri2.0 - Squirrel SpeTri2.0 Assembly

Position:

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	X	116,975,135 - 116,986,976 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936714	1,272,565 - 1,281,287 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936714	1,273,528 - 1,281,266 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Vma21	Squirrel	autistic disorder		ISO	RGD:1604972	8554872	ClinVar Annotator: match by term: Autism	ClinVar	PMID:21681106\|PMID:30208311
Vma21	Squirrel	autosomal hemophilia A		ISO	RGD:1604972	8554872	ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A	ClinVar	PMID:31690835
Vma21	Squirrel	centronuclear myopathy X-linked		ISO	RGD:1604972	8554872	ClinVar Annotator: match by term: Severe X-linked myotubular myopathy	ClinVar	PMID:10063835\|PMID:10449925\|PMID:15725586\|PMID:20434914\|PMID:28492532\|PMID:9305655
Vma21	Squirrel	factor VIII deficiency		ISO	RGD:1604972	8554872	ClinVar Annotator: match by term: Factor 8 deficiency, congenital	ClinVar	PMID:31690835
Vma21	Squirrel	genetic disease		ISO	RGD:1604972	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:17576681\|PMID:23315026\|PMID:25741868\|PMID:25809233\|PMID:28492532\|PMID:9536098
Vma21	Squirrel	syndromic X-linked intellectual disability Lubs type		ISO	RGD:1604972	8554872	ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type	ClinVar	PMID:22679399\|PMID:25741868\|PMID:27247049\|PMID:27761913\|PMID:28257338\|PMID:29141583\|PMID:30788845
Vma21	Squirrel	Vacuolar Myopathy		ISO	RGD:1604972	8554872	ClinVar Annotator: match by term: Autophagic vacuolar myopathy	ClinVar	PMID:25741868\|PMID:28492532
Vma21	Squirrel	X-linked myopathy with excessive autophagy		ISO	RGD:1604972	8554872	ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy	ClinVar	PMID:10063835\|PMID:10449925\|PMID:15725586\|PMID:16217076\|PMID:17576681\|PMID:20434914\|PMID:23315026\|PMID:23850239\|PMID:24488655\|PMID:25683699\|PMID:25741868\|PMID:25809233\|PMID:25817839\|PMID:28492532\|PMID:9305655\|PMID:9536098

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Vma21	Squirrel	X-linked myopathy with excessive autophagy		ISO	RGD:1604972	7240710		OMIM

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Vma21	Squirrel	vacuolar proton-transporting V-type ATPase complex assembly	involved_in	IEA	PANTHER:PTN000780775	150520179		TreeGrafter	GO_REF:0000118
Vma21	Squirrel	vacuolar proton-transporting V-type ATPase complex assembly	involved_in	IEA	InterPro:IPR019013	150520179		InterPro	GO_REF:0000002
Vma21	Squirrel	vacuolar proton-transporting V-type ATPase complex assembly	involved_in	IEA	UniRule:UR000161398	150520179		UniProt	GO_REF:0000104

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Vma21	Squirrel	cytoplasmic vesicle	located_in	IEA	UniProtKB-KW:KW-0968	150520179		UniProt	GO_REF:0000043
Vma21	Squirrel	endoplasmic reticulum	located_in	IEA	UniProtKB-KW:KW-0256	150520179		UniProt	GO_REF:0000043
Vma21	Squirrel	endoplasmic reticulum membrane	located_in	IEA	PANTHER:PTN000780775	150520179		TreeGrafter	GO_REF:0000118
Vma21	Squirrel	endoplasmic reticulum membrane	located_in	IEA	UniRule:UR000161398	150520179		UniProt	GO_REF:0000104
Vma21	Squirrel	endoplasmic reticulum membrane	located_in	IEA	UniProtKB-SubCell:SL-0097	150520179		UniProt	GO_REF:0000044
Vma21	Squirrel	endoplasmic reticulum-Golgi intermediate compartment membrane	located_in	IEA	UniProtKB-SubCell:SL-0099	150520179		UniProt	GO_REF:0000044
Vma21	Squirrel	ER to Golgi transport vesicle membrane	located_in	IEA	UniProtKB-SubCell:SL-0078	150520179		UniProt	GO_REF:0000044
Vma21	Squirrel	ER to Golgi transport vesicle membrane	located_in	IEA	UniRule:UR000161398	150520179		UniProt	GO_REF:0000104
Vma21	Squirrel	lysosome	located_in	IEA	UniProtKB:Q3ZAQ7\|ensembl:ENSP00000333255	150520179		Ensembl	GO_REF:0000107
Vma21	Squirrel	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Vma21	Squirrel	protein binding	enables	ISO	UniProtKB:O75787	9068941	PMID:29127204	UniProt	PMID:29127204
Vma21	Squirrel	protein binding	enables	ISO	UniProtKB:O00767\|UniProtKB:O14735\|UniProtKB:O95070\|UniProtKB:O95870\|UniProtKB:P30519\|UniProtKB:P63027\|UniProtKB:Q08AM2\|UniProtKB:Q12981\|UniProtKB:Q13520\|UniProtKB:Q15041\|UniProtKB:Q2HXU8-2\|UniProtKB:Q5QGT7\|UniProtKB:Q6ICL7\|UniProtKB:Q6P499\|UniProtKB:Q6UX40\|UniProtKB:Q8TAF8\|UniProtKB:Q96AG3\|UniProtKB:Q99437\|UniProtKB:Q9H2L4\|UniProtKB:Q9HD20-3\|UniProtKB:Q9NZ01\|UniProtKB:Q9NZG7\|UniProtKB:Q9P0S3\|UniProtKB:Q9UPZ6\|UniProtKB:Q9Y342\|UniProtKB:Q9Y4D2\|UniProtKB:Q9Y548\|UniProtKB:Q9Y5U4	9068941	PMID:32296183	IntAct	PMID:32296183

PMID:22301074	PMID:30032202

Vma21
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	X	116,975,135 - 116,986,976 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936714	1,272,565 - 1,281,287 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936714	1,273,528 - 1,281,266 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

VMA21
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	151,396,595 - 151,409,364 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	151,396,515 - 151,409,364 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	150,565,067 - 150,577,836 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	150,316,363 - 150,328,494 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	X	150,814,162 - 150,826,340 (+)	NCBI		Celera
Cytogenetic Map	X	q28	NCBI
HuRef	X	139,424,159 - 139,436,336 (+)	NCBI		HuRef
CHM1_1	X	150,440,375 - 150,452,556 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	149,664,671 - 149,677,438 (+)	NCBI		T2T-CHM13v2.0

Vma21
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	70,856,368 - 70,868,312 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	70,859,530 - 70,883,363 (+)	Ensembl		GRCm39 Ensembl
GRCm38	X	71,812,752 - 71,824,706 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	71,815,924 - 71,839,757 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	69,062,118 - 69,070,045 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	X	68,065,529 - 68,077,421 (+)	NCBI		MGSCv36	mm8
Celera	X	62,796,922 - 62,804,890 (+)	NCBI		Celera
Cytogenetic Map	X	A7.3	NCBI
cM Map	X	37.07	NCBI

Vma21
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	X	154,536,493 - 154,545,794 (+)	NCBI		GRCr8
mRatBN7.2	X	149,491,709 - 149,501,010 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	X	149,491,738 - 149,499,272 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	X	151,685,889 - 151,695,190 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	X	155,220,078 - 155,229,379 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	X	152,761,648 - 152,770,949 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	16	70,142,561 - 70,151,833 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	16	70,142,761 - 70,242,979 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0 Ensembl	17	34,939,517 - 34,945,317 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	16	69,812,633 - 69,821,254 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Rnor_5.0	17	38,458,277 - 38,463,846 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	X	157,237,405 - 157,244,955 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Cytogenetic Map	X	q37	NCBI

Vma21
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955498	6,874,776 - 6,887,658 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955498	6,874,980 - 6,887,561 (+)	NCBI	ChiLan1.0	ChiLan1.0

VMA21
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	X	151,483,269 - 151,573,061 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	X	151,487,209 - 151,499,726 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	140,995,525 - 141,008,351 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	150,954,069 - 150,966,109 (+)	NCBI	panpan1.1	PanPan1.1	panPan2

VMA21
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	X	119,429,680 - 119,502,007 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	119,429,931 - 119,435,756 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	104,810,848 - 104,816,673 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	X	121,647,624 - 121,723,089 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	X	121,648,347 - 121,657,626 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	X	118,368,631 - 118,374,456 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	X	120,851,851 - 120,857,676 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	X	120,734,452 - 120,740,277 (+)	NCBI		UU_Cfam_GSD_1.0

VMA21
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1	X	122,872,141 - 122,882,976 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	140,500,076 - 140,510,866 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

VMA21
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	X	125,939,537 - 125,951,819 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	X	125,939,913 - 125,947,561 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666065	63,703,654 - 63,716,583 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Vma21
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624923	1,542,308 - 1,546,083 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.


RefSeq Transcripts	XM_005338509	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005338510	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_040286783	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	JAESOR010000614	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENSSTOT00000011175 ⟹ ENSSTOP00000010023

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
SpeTri2.0 Ensembl	NW_004936714	1,272,565 - 1,281,287 (-)	Ensembl

RefSeq Acc Id:

XM_005338510 ⟹ XP_005338567

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
HiC_Itri_2	X	116,975,697 - 116,986,976 (+)	NCBI
SpeTri2.0	NW_004936714	1,273,528 - 1,280,727 (-)	NCBI

Sequence:

show sequence

CACCGAGTTCACAGGGACACTTCCGGCGCGGCGGGTCTGGAACTTAGGGGCCTCTGAGCCCAACCCGCTGCCGAGTGCTTGCGGCTGGCGGGGCGACACAATGGAGCGCCTTGATAAAGCGGCGCTGA
ACGCGCTGCAGCCACCTGAGTTCAGAAGCGAAAGTTCTTTAGCGTCTACTCTGAAGACTCTCTTGTTCTTCACAGCTTTAATGATCACAGTTCCTATTGGATTATATTTCACAACTAAATCTTATATA
TTTGAAGGTATCCTCGGAATGTCGAATAGGGATAGTTACTTTTATGCTGCGATTGTTGCTGTGGTTGCGGTTCATGTGGTACTGGCTCTCTTTGTGTATGTAGCCTGGAATGAAGGCTCACGGCAGTG
GCGTGAAGGAAAGCAAGATTAAAGTGAACATCACCTTTTGATGGAATTGAATTGATTTTTTAATATGGTAAATGTTTTTGGGACATTG

hide sequence

RefSeq Acc Id:

XM_040286783 ⟹ XP_040142717

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
HiC_Itri_2	X	116,975,135 - 116,986,976 (+)	NCBI


Protein RefSeqs	XP_005338567	(Get FASTA)	NCBI Sequence Viewer
	XP_040142717	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSSTOP00000010023.2
GenBank Protein	KAG3273129	(Get FASTA)	NCBI Sequence Viewer
	KAG3273130	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	XP_005338567 ⟸ XM_005338510
- Peptide Label:	isoform X2
- UniProtKB:	I3MGT9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MERLDKAALNALQPPEFRSESSLASTLKTLLFFTALMITVPIGLYFTTKSYIFEGILGMSNRDSYFYAAIVAVVAVHVVLALFVYVAWNEGSRQWREGKQD hide sequence

RefSeq Acc Id:	XP_040142717 ⟸ XM_040286783
- Peptide Label:	isoform X1

Ensembl Acc Id:

ENSSTOP00000010023 ⟸ ENSSTOT00000011175

Database	Acc Id	Source(s)
Ensembl Genes	ENSSTOG00000011179	Ensembl, UniProtKB/TrEMBL
Ensembl Transcript	ENSSTOT00000011175.3	UniProtKB/TrEMBL
InterPro	Vma21	UniProtKB/TrEMBL
NCBI Gene	Vma21	ENTREZGENE
PANTHER	PTHR31792	UniProtKB/TrEMBL
	VACUOLAR ATPASE ASSEMBLY INTEGRAL MEMBRANE PROTEIN VMA21	UniProtKB/TrEMBL
Pfam	VMA21	UniProtKB/TrEMBL
UniProt	I3MGT9	ENTREZGENE, UniProtKB/TrEMBL

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2019-01-29	Vma21	vacuolar ATPase assembly factor VMA21		VMA21, vacuolar ATPase assembly factor	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

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