VWA5B1 (von Willebrand factor A domain containing 5B1)

Gene

• Entrez ID: 127731
• Gene name: Von Willebrand factor A domain containing 5B1
• Gene symbol: VWA5B1
• Synonyms (NCBI Gene): -
• Chromosome: 1
• Chromosome location: 1p36.12

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1488329	hsa-miR-4269	CLIP-seq
MIRT1488330	hsa-miR-4438	CLIP-seq
MIRT1488331	hsa-miR-4474-5p	CLIP-seq
MIRT1488332	hsa-miR-499a-5p	CLIP-seq
MIRT1488333	hsa-miR-5095	CLIP-seq
MIRT2367541	hsa-miR-15a	CLIP-seq
MIRT2367542	hsa-miR-15b	CLIP-seq
MIRT2367543	hsa-miR-16	CLIP-seq
MIRT2367544	hsa-miR-195	CLIP-seq
MIRT2367545	hsa-miR-3064-5p	CLIP-seq
MIRT2367546	hsa-miR-3194-5p	CLIP-seq
MIRT2367547	hsa-miR-424	CLIP-seq
MIRT2367548	hsa-miR-4274	CLIP-seq
MIRT2367549	hsa-miR-4323	CLIP-seq
MIRT2367550	hsa-miR-4530	CLIP-seq
MIRT2367551	hsa-miR-455-3p	CLIP-seq
MIRT2367552	hsa-miR-4685-5p	CLIP-seq
MIRT2367553	hsa-miR-497	CLIP-seq
MIRT2367554	hsa-miR-604	CLIP-seq
MIRT2367555	hsa-miR-647	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	IEA

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• UniProt ID: Q5TIE3
• Protein name: von Willebrand factor A domain-containing protein 5B1
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13757	VIT_2	2 → 79	Vault protein inter-alpha-trypsin domain	Domain
  PF13768	VWA_3	360 → 514	von Willebrand factor type A domain	Domain

• Sequence:

  MPGLLNWITGAALPLTASDVTSCVSGYALGLTASLTYGNLEAQPFQGLFVYPLDECTTVI
  GFEAVIADRVVTVQIKDKAKLESGHFDASHVRSPTVTGNILQDGVSIAPHSCTPGKVTLD
  EDLERILFVANLGTIAPMENVTIFISTSSELPTLPSGAVRVLLPAVCAPTVPQFCTKSTG
  TSNQQAQGKDRHCFGAWAPGSWNKLCLATLLNTEVSNPMEYEFNFQLEIRGPCLLAGVES
  PTHEIRADAAPSARSAKSIIITLANKHTFDRPVEILIHPSEPHMPHVLIEKGDMTLGEFD
  QHLKGRTDFIKGMKKKSRAERKTEIIRKRLHKDIPHHSVIMLNFCPDLQSVQPCLRKAHG
  EFIFLIDRSSSMSGISMHRVKDAMLVALKSLMPACLFNIIGFGSTFKSLFPSSQTYSEDS
  LAMACDDIQRMKADMGGTNILSPLKWVIRQPVHRGHPRLLFVITDGAVNNTGKVLELVRN
  HAFSTRCYSFGIGPNVCHRLVKGLASVSEGSAELLMEGERLQPKMVKSLKKAMAPVLSDV
  TVEWIFPETTEVLVSPVSASSLFPGERLVGYGIVCDASLHISNPRSDKRRRYSMLHSQES
  GSSVFYHSQDDGPGLEGGDCAKNSGAPFILGQAKNARLASGDSTTKHDLNLSQRRRAYST
  NQITNHKPLPRATMASDPMPAAKRYPLRKARLQDLTNQTSLDVQRWQIDLQPLLNSGQDL
  NQGPKLRGPGARRPSLLPQGCQPFLPWGQETQAWSPVRERTSDSRSPGDLEPSHHPSAFE
  TETSSDWDPPAESQERASPSRPATPAPVLGKALVKGLHDSQRLQWEVSFELGTPGPERGG
  AQDADLWSETFHHLAARAIIRDFEQLAEREGEIEQGSNRRYQVSALHTSKACNIISKYTA
  FVPVDVSKSRYLPTVVEYPNSAALRMLGSRALAQQWRGTSSGFGRPQTMLGEDSAPGNGK
  FQALNMEASPTALFSEARSPGREKHGASEGPQRSLATNTLSSMKASENLFGSWLNLNKSR
  LLTRAAKGFLSKPLIKAVESTSGNQSFDYIPLVSLQLASGAFLLNEAFCEATHIPMEKLK
  WTSPFTCHRVSLTTRPSESKTPSPQLCTSSPPRHPSCDSFSLEPLAKGKLGLEPRAVVEH
  TGKLWATVVGLAWLEHSSASYFTEWELVAAKANSWLEQQEVPEGRTQGTLKAAARQLFVL
  LRHWDENLEFNMLCYNPNYV

• Sequence length: 1220

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL TREMOR	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations