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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

VWA5B1 Gene

protein-coding GIFtS: 38
GCID: GC01P020617

von Willebrand factor A domain containing 5B1

Search for VWA5B1
in

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Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Von Willebrand Factor A Domain Containing 5B1¹ ²
FLJ32784¹
Von Willebrand Factor A Domain-Containing Protein 5B1²

External Ids:	HGNC: 26538¹	Entrez Gene: 127731²	Ensembl: ENSG00000158816⁷	UniProtKB: Q5TIE3³

Export aliases for VWA5B1 gene to outside databases

Previous GC identifers: GC01P020491 GC01P018863

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_004610.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the VWA5B1 gene promoter:
C/EBPbeta ATF-2 MyoD XBP-1 CP2 HFH-1 COMP1 FOXO1a c-Myb FOXO1
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for VWA5B1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat VWA5B1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.12 Ensembl cytogenetic band: 1p36.12 HGNC cytogenetic band: 1p36.12

VWA5B1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VWA5B1 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P020617: view genomic region (about GC identifiers)

Start:	20,617,412 bp from pter	End:	20,681,387 bp from pter
Size:	63,976 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: VW5B1_HUMAN, Q5TIE3 (See protein sequence)

Recommended Name: von Willebrand factor A domain-containing protein 5B1 precursor

Size: 1220 amino acids; 133802 Da

Subcellular location: Secreted (Potential)

Sequence caution: Sequence=BAB71439.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Secondary accessions: A4IF35 A4IF36 Q3ZCM4 Q6ZUB4 Q96M71

Alternative splicing: 5 isoforms: Q5TIE3-1 Q5TIE3-2 Q5TIE3-3 Q5TIE3-4 Q5TIE3-5 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for VWA5B1: NX_Q5TIE3

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q5TIE3

VWA5B1 Protein expression data from MOPED and PaxDb: --

REFSEQ proteins: NP_001034589.2

ENSEMBL proteins:

ENSP00000431194 ENSP00000437095 ENSP00000437028 ENSP00000432600 ENSP00000364220

ENSP00000435623 ENSP00000364230 ENSP00000289815 ENSP00000364224 ENSP00000289825

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	Uscn Proteins for VWA5B1

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--

VWA5B1 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

VWA5B1 for domains About GeneDecksing

2 InterPro domains/families:

IPR013694 VIT

IPR002035 VWF_A

Graphical View of Domain Structure for InterPro Entry Q5TIE3

ProtoNet protein and cluster: Q5TIE3

UniProtKB/Swiss-Prot: VW5B1_HUMAN, Q5TIE3

Similarity: Contains 1 VIT domain

Similarity: Contains 1 VWFA domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for VWA5B1

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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About This Section

REFSEQ mRNAs for VWA5B1 gene (2 alternative transcripts):

NM_144623.2 NM_001039500.2

Unigene Cluster for VWA5B1:

Von Willebrand factor A domain containing 5B1

Hs.205178 [show with all ESTs]

Unigene Representative Sequence: NM_001039500

11 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000485375 ENST00000473325(uc001bdd.2) ENST00000530722 ENST00000534075

ENST00000375079 ENST00000467486 ENST00000525343 ENST00000375089(uc009vps.2 uc010odc.1 uc001bde.3)

ENST00000289815(uc009vpt.2) ENST00000375083 ENST00000289825

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Additional cDNA sequence:

AK125833.1 AK295797.1 BC101378.1 BC101379.2 BC101380.1 BC101381.1

5 DOTS entries:

DT.101960175 DT.40303351 DT.121354269 DT.121354260 DT.121354271

6 AceView cDNA sequences:

NM_144623 BX116920 AK057346 AI797955 AK125833 AA630176

GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for VWA5B1 (see all 7) About this scheme

ExUns:	1a	·	1b	^	2a	·	2b	^	3	^	4a	·	4b	^	5a	·	5b	·	5c	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19	^	20a	·	20b
SP1:
SP2:																																									-		-
SP3:							-
SP4:					-		-
SP5:					-		-

ECgene alternative splicing isoforms for VWA5B1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

VWA5B1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTAACAGCCA

About this image

VWA5B1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Posterior foregut-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Genevestigator expression for VWA5B1

SOURCE GeneReport for Unigene cluster: Hs.205178

SABiosciences Custom PCR Arrays for VWA5B1

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for VWA5B1 gene from 2/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	VWA5B1¹	von Willebrand factor A domain containing 5B1	65.65(n) 59.06(a)		771681 XM_001234928.2 XP_001234929.2
zebrafish (Danio rerio)	Actinopterygii	vwa5b1¹	von Willebrand factor A domain containing 5B1	59.27(n) 52.47(a)		564493 XM_687826.4 XP_692918.4

ENSEMBL Gene Tree for VWA5B1 (if available)
TreeFam Gene Tree for VWA5B1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for VWA5B1 gene

PARP4² VWA5A² VWA5B2²

VWA5B1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs76470247^1,2	F,	--	20615455(+)	`TGAGGG/TTTAAA`	1	--	us2k¹		1		WA	118
rs75343550^1,2		--	20615482(+)	`GAAAGG/CCTTCA`	1	--	us2k¹		1		WA	118
rs16823805^1,2	C,F,H,	--	20615501(+)	`TTGTGT/AGGGAC`	1	--	us2k¹		20		NA NS EA WA	2458
rs187356406^1,2		--	20615514(+)	`AATCTA/GGTTGG`	1	--	us2k¹		0	--	--	--	--
rs74690106^1,2	C,F,	--	20615534(+)	`TGCCAG/AGTTCC`	1	--	us2k¹		1		WA	118
rs190468336^1,2		--	20615573(+)	`TTTCCC/GCAAGC`	1	--	us2k¹		0	--	--	--	--
rs12731818^1,2	C,F,	--	20615583(+)	`CACTGG/CCTCCA`	1	--	us2k¹		5		NA	128
rs4654847^1,2	F,	--	20615594(+)	`AGGCCC/TAGCTC`	1	--	us2k¹		1		NA	120
rs4654848^1,2	C,F,A,H,	--	20615595(+)	`GGCCCG/AGCTCA`	1	--	us2k¹		20		NA NS EA WA CSA	1329
rs34805734^1,2	C,F,	--	20615696(+)	`ACCTAT/CCATTT`	1	--	us2k¹		5		NA	128

HapMap Linkage Disequilibrium report for VWA5B1 (20617412 - 20681387 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for VWA5B1: --

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

VWA5B1 for disorders About MalaCards

VWA5B1 for disorders About GeneDecksing

Human Genome Epidemiology (HuGE) Navigator: VWA5B1 (1 document)

Export disorders for VWA5B1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for VWA5B1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with VWA5B1)

Utopia: connect your pdf to the dynamic
world of online information

Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)² Dephoure N.... Gygi S.P. (2008)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)
The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)² Gregory S.G.... Bentley D.R. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 127731	HGNC: 26538	AceView: FLJ32784	Ensembl:ENSG00000158816	euGenes: HUgn127731
ECgene: VWA5B1	H-InvDB: VWA5B1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for VWA5B1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for VWA5B1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for VWA5B1 gene:
Search GeneIP for patents involving VWA5B1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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Advanced Cell Diagnostics
About This Section


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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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VWA5B1 Gene

von Willebrand factor A domain containing 5B1

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VWA5B1 Gene

von Willebrand factor A domain containing 5B1

Aliasesfor VWA5B1 gene

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