Vwa5b1 (von Willebrand factor A domain containing 5B1)

Gene: Vwa5b1 (von Willebrand factor A domain containing 5B1) Heterocephalus glaber

Analyze

Symbol:

Vwa5b1

Name:

von Willebrand factor A domain containing 5B1

RGD ID:

18927999

Description:

ASSOCIATED WITH 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (ortholog); congenital disorder of glycosylation Ir (ortholog); hyperprolinemia type 2 (ortholog)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

von Willebrand factor A domain-containing protein 5B1

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Latest Assembly:

HetGla 1.0 - Naked Mole-Rat female 1.0 Assembly

Position:

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624764	5,379,677 - 5,430,047 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624764	5,379,734 - 5,435,744 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (ISO)

congenital disorder of glycosylation Ir (ISO)

hyperprolinemia type 2 (ISO)

Parkinson's disease 6 (ISO)

References

Genomics

Comparative Map Data

Vwa5b1
(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_female_1.0 Ensembl	NW_004624764	5,379,677 - 5,430,047 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624764	5,379,734 - 5,435,744 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

VWA5B1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	20,290,875 - 20,359,518 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	20,290,875 - 20,359,518 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	20,617,368 - 20,686,011 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	20,502,161 - 20,553,974 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	1	18,940,501 - 19,004,478 (+)	NCBI		Celera
Cytogenetic Map	1	p36.12	NCBI
HuRef	1	18,863,080 - 18,927,066 (+)	NCBI		HuRef
CHM1_1	1	20,727,079 - 20,791,049 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	20,114,458 - 20,183,107 (+)	NCBI		T2T-CHM13v2.0

Vwa5b1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	138,291,540 - 138,363,303 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	138,292,671 - 138,363,195 (-)	Ensembl		GRCm39 Ensembl
GRCm38	4	138,564,229 - 138,635,992 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	138,565,360 - 138,635,884 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	138,124,884 - 138,179,907 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	137,841,143 - 137,896,088 (-)	NCBI		MGSCv36	mm8
Celera	4	140,354,597 - 140,411,167 (-)	NCBI		Celera
Cytogenetic Map	4	D3	NCBI
cM Map	4	70.43	NCBI

Vwa5b1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	5	156,080,599 - 156,148,155 (-)	NCBI		GRCr8
mRatBN7.2	5	150,792,959 - 150,864,849 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	5	150,797,322 - 150,852,518 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	5	153,494,374 - 153,549,184 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	5	155,268,668 - 155,323,482 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	5	155,250,696 - 155,305,339 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	5	157,003,505 - 157,060,553 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	157,002,826 - 157,059,508 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	160,746,306 - 160,801,686 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	157,374,009 - 157,428,939 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	5	157,357,084 - 157,452,371 (-)	NCBI
Celera	5	149,187,008 - 149,241,686 (-)	NCBI		Celera
Cytogenetic Map	5	q36	NCBI

Vwa5b1
(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_004955452	882,051 - 938,333 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955452	874,819 - 938,134 (+)	NCBI	ChiLan1.0	ChiLan1.0

VWA5B1
(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	1	206,756,912 - 206,827,665 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	205,872,793 - 205,944,457 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	19,246,882 - 19,315,348 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	20,289,519 - 20,353,256 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	20,289,519 - 20,353,256 (+)	Ensembl	panpan1.1		panPan2

VWA5B1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	2	78,525,507 - 78,582,674 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	2	78,528,654 - 78,593,983 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	2	75,039,081 - 75,096,319 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	2	79,091,703 - 79,148,807 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	2	79,094,798 - 79,160,087 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	2	75,911,018 - 75,968,050 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	2	76,922,662 - 76,973,670 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	2	77,994,518 - 78,045,378 (-)	NCBI		UU_Cfam_GSD_1.0

Vwa5b1
(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	NW_024405058	40,481,463 - 40,534,387 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936474	6,322,852 - 6,359,160 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936474	6,322,852 - 6,359,160 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

VWA5B1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	78,552,307 - 78,609,274 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	78,552,803 - 78,614,410 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	72,751,770 - 72,799,891 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

VWA5B1
(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	20	112,197,665 - 112,262,398 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	20	112,198,450 - 112,243,041 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666033	3,955,470 - 4,023,971 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Expression

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_004850459	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_013074403	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_021262959	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_002396953	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AHKG01044630	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AHKG01044631	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AHKG01044632	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENSHGLT00000016790 ⟹ ENSHGLP00000016620

Type:

CODING

Position:

Naked Mole-Rat Assembly	Chr	Position (strand)	Source
HetGla_female_1.0 Ensembl	NW_004624764	5,379,677 - 5,430,047 (+)	Ensembl

RefSeq Acc Id:

XM_004850459 ⟹ XP_004850516

Type:

CODING

Position:

Naked Mole-Rat Assembly	Chr	Position (strand)	Source
HetGla 1.0	NW_004624764	5,380,257 - 5,433,881 (+)	NCBI

RefSeq Acc Id:

XM_013074403 ⟹ XP_012929857

Type:

CODING

Position:

Naked Mole-Rat Assembly	Chr	Position (strand)	Source
HetGla 1.0	NW_004624764	5,379,734 - 5,433,881 (+)	NCBI

RefSeq Acc Id:

XM_021262959 ⟹ XP_021118618

Type:

CODING

Position:

Naked Mole-Rat Assembly	Chr	Position (strand)	Source
HetGla 1.0	NW_004624764	5,395,312 - 5,427,940 (+)	NCBI

RefSeq Acc Id:

XR_002396953

Type:

NON-CODING

Position:

Naked Mole-Rat Assembly	Chr	Position (strand)	Source
HetGla 1.0	NW_004624764	5,395,312 - 5,435,744 (+)	NCBI

Protein Sequences


Protein RefSeqs	XP_004850516	(Get FASTA)	NCBI Sequence Viewer
	XP_012929857	(Get FASTA)	NCBI Sequence Viewer
	XP_021118618	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSHGLP00000016620

RefSeq Acc Id:	XP_012929857 ⟸ XM_013074403
- Peptide Label:	isoform X1
- UniProtKB:	G5C4W4 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_004850516 ⟸ XM_004850459
- Peptide Label:	isoform X1
- UniProtKB:	G5C4W4 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_021118618 ⟸ XM_021262959
- Peptide Label:	isoform X2
- UniProtKB:	G5C4W4 (UniProtKB/TrEMBL)

RefSeq Acc Id:

ENSHGLP00000016620 ⟸ ENSHGLT00000016790

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSHGLG00000011886	Ensembl, ENTREZGENE
Ensembl Transcript	ENSHGLT00000016790	ENTREZGENE
Gene3D-CATH	von Willebrand factor, type A domain	UniProtKB/TrEMBL
InterPro	VIT	UniProtKB/TrEMBL
	VWF_A	UniProtKB/TrEMBL
	vWFA_dom_sf	UniProtKB/TrEMBL
NCBI Gene	Vwa5b1	ENTREZGENE
PANTHER	VON WILLEBRAND FACTOR A DOMAIN-CONTAINING PROTEIN 5B1	UniProtKB/TrEMBL
	VON WILLEBRAND FACTOR A DOMAIN-CONTAINING PROTEIN 5B2-RELATED	UniProtKB/TrEMBL
Pfam	VIT_2	UniProtKB/TrEMBL
	VWA_3	UniProtKB/TrEMBL
PROSITE	VIT	UniProtKB/TrEMBL
	VWFA	UniProtKB/TrEMBL
SMART	VWA	UniProtKB/TrEMBL
Superfamily-SCOP	vWA-like	UniProtKB/TrEMBL
UniProt	G5C4W4	ENTREZGENE, UniProtKB/TrEMBL

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

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

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - ClinVar