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

    Gene ID: 127731, updated on 27-Nov-2024

    Summary

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    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 AllianceGenome:HGNC:26538
    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
    Summary
    Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
    NEW
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    Genomic context

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    See VWA5B1 in Genome Data Viewer
    Location:
    1p36.12
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (20290875..20359518)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (20114458..20183107)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (20617368..20686011)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 318 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 319 Neighboring gene long intergenic non-protein coding RNA 1757 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:20592229-20593428 Neighboring gene uncharacterized LOC105376828 Neighboring gene NANOG hESC enhancer GRCh37_chr1:20605144-20605685 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:20616749-20617260 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:20617261-20617771 Neighboring gene uncharacterized LOC124903870 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:20669041-20669541 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:20680030-20680530 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:20680531-20681031 Neighboring gene long intergenic non-protein coding RNA 1141 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:20701977-20702476 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 320 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:20706555-20707754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:20727039-20727539 Neighboring gene NANOG hESC enhancer GRCh37_chr1:20729171-20729710 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:20732635-20733223 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:20737119-20737312 Neighboring gene MPRA-validated peak103 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 364 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:20769432-20769932 Neighboring gene uncharacterized LOC124903871

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

    Bibliography

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    Related articles in PubMed

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
    2. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article
    3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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

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    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_001039500.3 → NP_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
      A4IF35, A4IF36, Q3ZCM4, Q5TIE3, Q6ZUB4, Q96M71
      Related
      ENSP00000289815.9, ENST00000289815.13
      Conserved Domains (3) summary
      cd01461
      Location:359 → 527
      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:30 → 569
      marine_srt_targ; marine proteobacterial sortase target protein
      pfam13757
      Location:2 → 79
      VIT_2; Vault protein inter-alpha-trypsin domain

    2. NM_001377531.1 → NP_001364460.1  von Willebrand factor A domain-containing protein 5B1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL020998
      UniProtKB/TrEMBL
      B4DIV5
      Conserved Domains (1) summary
      cd01461
      Location:254 → 422
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      20290875..20359518
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047445799.1 → XP_047301755.1  von Willebrand factor A domain-containing protein 5B1 isoform X7

    2. XM_011540684.3 → XP_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
      A4IF35, A4IF36, Q3ZCM4, Q5TIE3, Q6ZUB4, Q96M71
      Conserved Domains (3) summary
      cd01461
      Location:359 → 527
      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:30 → 569
      marine_srt_targ; marine proteobacterial sortase target protein
      pfam13757
      Location:2 → 79
      VIT_2; Vault protein inter-alpha-trypsin domain

    3. XM_011540685.3 → XP_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
      A4IF35, A4IF36, Q3ZCM4, Q5TIE3, Q6ZUB4, Q96M71
      Conserved Domains (3) summary
      cd01461
      Location:359 → 527
      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:30 → 569
      marine_srt_targ; marine proteobacterial sortase target protein
      pfam13757
      Location:2 → 79
      VIT_2; Vault protein inter-alpha-trypsin domain

    4. XM_011540683.3 → XP_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
      A4IF35, A4IF36, Q3ZCM4, Q5TIE3, Q6ZUB4, Q96M71
      Conserved Domains (3) summary
      cd01461
      Location:359 → 527
      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:30 → 569
      marine_srt_targ; marine proteobacterial sortase target protein
      pfam13757
      Location:2 → 79
      VIT_2; Vault protein inter-alpha-trypsin domain

    5. XM_011540688.3 → XP_011538990.1  von Willebrand factor A domain-containing protein 5B1 isoform X2

      UniProtKB/Swiss-Prot
      A4IF35, A4IF36, Q3ZCM4, Q5TIE3, Q6ZUB4, Q96M71
      Conserved Domains (3) summary
      cd01461
      Location:359 → 527
      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:30 → 569
      marine_srt_targ; marine proteobacterial sortase target protein
      pfam13757
      Location:2 → 79
      VIT_2; Vault protein inter-alpha-trypsin domain

    6. XM_011540691.3 → XP_011538993.1  von Willebrand factor A domain-containing protein 5B1 isoform X4

      UniProtKB/Swiss-Prot
      A4IF35, A4IF36, Q3ZCM4, Q5TIE3, Q6ZUB4, Q96M71
      Conserved Domains (3) summary
      cd01461
      Location:359 → 527
      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:30 → 495
      marine_srt_targ; marine proteobacterial sortase target protein
      pfam13757
      Location:2 → 79
      VIT_2; Vault protein inter-alpha-trypsin domain

    7. XM_011540690.3 → XP_011538992.1  von Willebrand factor A domain-containing protein 5B1 isoform X3

      UniProtKB/Swiss-Prot
      A4IF35, A4IF36, Q3ZCM4, Q5TIE3, Q6ZUB4, Q96M71
      Conserved Domains (3) summary
      TIGR03788
      Location:30 → 510
      marine_srt_targ; marine proteobacterial sortase target protein
      pfam13757
      Location:2 → 79
      VIT_2; Vault protein inter-alpha-trypsin domain
      cl00057
      Location:313 → 468
      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 ...

    8. XM_011540693.2 → XP_011538995.1  von Willebrand factor A domain-containing protein 5B1 isoform X5

      See identical proteins and their annotated locations for XP_011538995.1

      UniProtKB/Swiss-Prot
      Q5TIE3
      Conserved Domains (3) summary
      cd01461
      Location:359 → 527
      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:30 → 569
      marine_srt_targ; marine proteobacterial sortase target protein
      pfam13757
      Location:2 → 79
      VIT_2; Vault protein inter-alpha-trypsin domain

    9. XM_011540698.2 → XP_011539000.1  von Willebrand factor A domain-containing protein 5B1 isoform X10

      Conserved Domains (3) summary
      cd01461
      Location:359 → 527
      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:30 → 569
      marine_srt_targ; marine proteobacterial sortase target protein
      pfam13757
      Location:2 → 79
      VIT_2; Vault protein inter-alpha-trypsin domain

    10. XM_006710360.4 → XP_006710423.2  von Willebrand factor A domain-containing protein 5B1 isoform X6

      UniProtKB/TrEMBL
      B4DIV5
      Conserved Domains (1) summary
      cd01461
      Location:152 → 320
      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_017000305.2 → XP_016855794.1  von Willebrand factor A domain-containing protein 5B1 isoform X8

      UniProtKB/TrEMBL
      B4DIV5

    12. XM_011540697.3 → XP_011538999.1  von Willebrand factor A domain-containing protein 5B1 isoform X9

      Conserved Domains (1) summary
      cd01461
      Location:19 → 187
      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_017000306.2 → XP_016855795.1  von Willebrand factor A domain-containing protein 5B1 isoform X9

      Conserved Domains (1) summary
      cd01461
      Location:19 → 187
      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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      20114458..20183107
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334390.1 → XP_054190365.1  von Willebrand factor A domain-containing protein 5B1 isoform X7

    2. XM_054334384.1 → XP_054190359.1  von Willebrand factor A domain-containing protein 5B1 isoform X1

    3. XM_054334383.1 → XP_054190358.1  von Willebrand factor A domain-containing protein 5B1 isoform X1

    4. XM_054334382.1 → XP_054190357.1  von Willebrand factor A domain-containing protein 5B1 isoform X1

    5. XM_054334385.1 → XP_054190360.1  von Willebrand factor A domain-containing protein 5B1 isoform X2

    6. XM_054334387.1 → XP_054190362.1  von Willebrand factor A domain-containing protein 5B1 isoform X4

    7. XM_054334386.1 → XP_054190361.1  von Willebrand factor A domain-containing protein 5B1 isoform X3

    8. XM_054334388.1 → XP_054190363.1  von Willebrand factor A domain-containing protein 5B1 isoform X5

    9. XM_054334394.1 → XP_054190369.1  von Willebrand factor A domain-containing protein 5B1 isoform X10

    10. XM_054334389.1 → XP_054190364.1  von Willebrand factor A domain-containing protein 5B1 isoform X6

    11. XM_054334391.1 → XP_054190366.1  von Willebrand factor A domain-containing protein 5B1 isoform X8

    12. XM_054334392.1 → XP_054190367.1  von Willebrand factor A domain-containing protein 5B1 isoform X9

    13. XM_054334393.1 → XP_054190368.1  von Willebrand factor A domain-containing protein 5B1 isoform X9

    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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5TIE3.2 GenPept UniProtKB/Swiss-Prot:Q5TIE3

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