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

Gene ID: 127731, updated on 3-Apr-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, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
mouse all
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Genomic context

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Location:
1p36.12
Exon count:
31
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (20290875..20359518)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (20114458..20183107)
105.20220307 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)

Genotypes

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_2023_10

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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