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VWA5B1 von Willebrand factor A domain containing 5B1 [ Homo sapiens (human) ]

Gene ID: 127731, updated on 11-Jun-2021

Summary

Official Symbol
VWA5B1provided by HGNC
Official Full Name
von Willebrand factor A domain containing 5B1provided by HGNC
Primary source
HGNC:HGNC:26538
See related
Ensembl:ENSG00000158816
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See VWA5B1 in Genome Data Viewer
Location:
1p36.12
Exon count:
31
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (20290875..20360442)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (20617368..20686011)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1757 Neighboring gene uncharacterized LOC105376828 Neighboring gene long intergenic non-protein coding RNA 1141 Neighboring gene calcium/calmodulin dependent protein kinase II inhibitor 1 Neighboring gene mitochondrial E3 ubiquitin protein ligase 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32784, FLJ43845

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
von Willebrand factor A domain-containing protein 5B1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001039500.3NP_001034589.2  von Willebrand factor A domain-containing protein 5B1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001034589.2

    Status: VALIDATED

    Source sequence(s)
    AL020998
    UniProtKB/Swiss-Prot
    Q5TIE3
    Related
    ENSP00000289815.9, ENST00000289815.13
    Conserved Domains (3) summary
    cd01461
    Location:359527
    vWA_interalpha_trypsin_inhibitor; vWA_interalpha trypsin inhibitor (ITI): ITI is a glycoprotein composed of three polypeptides- two heavy chains and one light chain (bikunin). Bikunin confers the protease-inhibitor function while the heavy chains are involved in rendering stability to ...
    TIGR03788
    Location:30569
    marine_srt_targ; marine proteobacterial sortase target protein
    pfam13757
    Location:279
    VIT_2; Vault protein inter-alpha-trypsin domain
  2. NM_001377531.1NP_001364460.1  von Willebrand factor A domain-containing protein 5B1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL020998
    Conserved Domains (1) summary
    cd01461
    Location:254422
    vWA_interalpha_trypsin_inhibitor; vWA_interalpha trypsin inhibitor (ITI): ITI is a glycoprotein composed of three polypeptides- two heavy chains and one light chain (bikunin). Bikunin confers the protease-inhibitor function while the heavy chains are involved in rendering stability to ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    20290875..20360442
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011540684.2XP_011538986.1  von Willebrand factor A domain-containing protein 5B1 isoform X1

    See identical proteins and their annotated locations for XP_011538986.1

    UniProtKB/Swiss-Prot
    Q5TIE3
    Conserved Domains (3) summary
    cd01461
    Location:359527
    vWA_interalpha_trypsin_inhibitor; vWA_interalpha trypsin inhibitor (ITI): ITI is a glycoprotein composed of three polypeptides- two heavy chains and one light chain (bikunin). Bikunin confers the protease-inhibitor function while the heavy chains are involved in rendering stability to ...
    TIGR03788
    Location:30569
    marine_srt_targ; marine proteobacterial sortase target protein
    pfam13757
    Location:279
    VIT_2; Vault protein inter-alpha-trypsin domain
  2. XM_011540690.2XP_011538992.1  von Willebrand factor A domain-containing protein 5B1 isoform X3

    Conserved Domains (3) summary
    TIGR03788
    Location:30510
    marine_srt_targ; marine proteobacterial sortase target protein
    pfam13757
    Location:279
    VIT_2; Vault protein inter-alpha-trypsin domain
    cl00057
    Location:313468
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
  3. XM_011540688.2XP_011538990.1  von Willebrand factor A domain-containing protein 5B1 isoform X2

    UniProtKB/Swiss-Prot
    Q5TIE3
    Conserved Domains (3) summary
    cd01461
    Location:359527
    vWA_interalpha_trypsin_inhibitor; vWA_interalpha trypsin inhibitor (ITI): ITI is a glycoprotein composed of three polypeptides- two heavy chains and one light chain (bikunin). Bikunin confers the protease-inhibitor function while the heavy chains are involved in rendering stability to ...
    TIGR03788
    Location:30569
    marine_srt_targ; marine proteobacterial sortase target protein
    pfam13757
    Location:279
    VIT_2; Vault protein inter-alpha-trypsin domain
  4. XM_011540691.2XP_011538993.1  von Willebrand factor A domain-containing protein 5B1 isoform X4

    Conserved Domains (3) summary
    cd01461
    Location:359527
    vWA_interalpha_trypsin_inhibitor; vWA_interalpha trypsin inhibitor (ITI): ITI is a glycoprotein composed of three polypeptides- two heavy chains and one light chain (bikunin). Bikunin confers the protease-inhibitor function while the heavy chains are involved in rendering stability to ...
    TIGR03788
    Location:30495
    marine_srt_targ; marine proteobacterial sortase target protein
    pfam13757
    Location:279
    VIT_2; Vault protein inter-alpha-trypsin domain
  5. XM_011540685.2XP_011538987.1  von Willebrand factor A domain-containing protein 5B1 isoform X1

    See identical proteins and their annotated locations for XP_011538987.1

    UniProtKB/Swiss-Prot
    Q5TIE3
    Conserved Domains (3) summary
    cd01461
    Location:359527
    vWA_interalpha_trypsin_inhibitor; vWA_interalpha trypsin inhibitor (ITI): ITI is a glycoprotein composed of three polypeptides- two heavy chains and one light chain (bikunin). Bikunin confers the protease-inhibitor function while the heavy chains are involved in rendering stability to ...
    TIGR03788
    Location:30569
    marine_srt_targ; marine proteobacterial sortase target protein
    pfam13757
    Location:279
    VIT_2; Vault protein inter-alpha-trypsin domain
  6. XM_011540683.2XP_011538985.1  von Willebrand factor A domain-containing protein 5B1 isoform X1

    See identical proteins and their annotated locations for XP_011538985.1

    UniProtKB/Swiss-Prot
    Q5TIE3
    Conserved Domains (3) summary
    cd01461
    Location:359527
    vWA_interalpha_trypsin_inhibitor; vWA_interalpha trypsin inhibitor (ITI): ITI is a glycoprotein composed of three polypeptides- two heavy chains and one light chain (bikunin). Bikunin confers the protease-inhibitor function while the heavy chains are involved in rendering stability to ...
    TIGR03788
    Location:30569
    marine_srt_targ; marine proteobacterial sortase target protein
    pfam13757
    Location:279
    VIT_2; Vault protein inter-alpha-trypsin domain
  7. XM_011540693.1XP_011538995.1  von Willebrand factor A domain-containing protein 5B1 isoform X6

    See identical proteins and their annotated locations for XP_011538995.1

    UniProtKB/Swiss-Prot
    Q5TIE3
    Conserved Domains (3) summary
    cd01461
    Location:359527
    vWA_interalpha_trypsin_inhibitor; vWA_interalpha trypsin inhibitor (ITI): ITI is a glycoprotein composed of three polypeptides- two heavy chains and one light chain (bikunin). Bikunin confers the protease-inhibitor function while the heavy chains are involved in rendering stability to ...
    TIGR03788
    Location:30569
    marine_srt_targ; marine proteobacterial sortase target protein
    pfam13757
    Location:279
    VIT_2; Vault protein inter-alpha-trypsin domain
  8. XM_011540695.1XP_011538997.1  von Willebrand factor A domain-containing protein 5B1 isoform X8

    Conserved Domains (3) summary
    cd01461
    Location:359527
    vWA_interalpha_trypsin_inhibitor; vWA_interalpha trypsin inhibitor (ITI): ITI is a glycoprotein composed of three polypeptides- two heavy chains and one light chain (bikunin). Bikunin confers the protease-inhibitor function while the heavy chains are involved in rendering stability to ...
    TIGR03788
    Location:30569
    marine_srt_targ; marine proteobacterial sortase target protein
    pfam13757
    Location:279
    VIT_2; Vault protein inter-alpha-trypsin domain
  9. XM_011540698.1XP_011539000.1  von Willebrand factor A domain-containing protein 5B1 isoform X11

    Conserved Domains (3) summary
    cd01461
    Location:359527
    vWA_interalpha_trypsin_inhibitor; vWA_interalpha trypsin inhibitor (ITI): ITI is a glycoprotein composed of three polypeptides- two heavy chains and one light chain (bikunin). Bikunin confers the protease-inhibitor function while the heavy chains are involved in rendering stability to ...
    TIGR03788
    Location:30569
    marine_srt_targ; marine proteobacterial sortase target protein
    pfam13757
    Location:279
    VIT_2; Vault protein inter-alpha-trypsin domain
  10. XM_006710360.3XP_006710423.2  von Willebrand factor A domain-containing protein 5B1 isoform X7

    Conserved Domains (1) summary
    cd01461
    Location:152320
    vWA_interalpha_trypsin_inhibitor; vWA_interalpha trypsin inhibitor (ITI): ITI is a glycoprotein composed of three polypeptides- two heavy chains and one light chain (bikunin). Bikunin confers the protease-inhibitor function while the heavy chains are involved in rendering stability to ...
  11. XM_017000305.1XP_016855794.1  von Willebrand factor A domain-containing protein 5B1 isoform X9

  12. XM_011540697.2XP_011538999.1  von Willebrand factor A domain-containing protein 5B1 isoform X10

    Conserved Domains (1) summary
    cd01461
    Location:19187
    vWA_interalpha_trypsin_inhibitor; vWA_interalpha trypsin inhibitor (ITI): ITI is a glycoprotein composed of three polypeptides- two heavy chains and one light chain (bikunin). Bikunin confers the protease-inhibitor function while the heavy chains are involved in rendering stability to ...
  13. XM_017000306.1XP_016855795.1  von Willebrand factor A domain-containing protein 5B1 isoform X10

    Conserved Domains (1) summary
    cd01461
    Location:19187
    vWA_interalpha_trypsin_inhibitor; vWA_interalpha trypsin inhibitor (ITI): ITI is a glycoprotein composed of three polypeptides- two heavy chains and one light chain (bikunin). Bikunin confers the protease-inhibitor function while the heavy chains are involved in rendering stability to ...

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_144623.2: Suppressed sequence

    Description
    NM_144623.2: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
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