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    VWCE von Willebrand factor C and EGF domains [ Homo sapiens (human) ]

    Gene ID: 220001, updated on 27-Nov-2024

    Summary

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    Official Symbol
    VWCEprovided by HGNC
    Official Full Name
    von Willebrand factor C and EGF domainsprovided by HGNC
    Primary source
    HGNC:HGNC:26487
    See related
    Ensembl:ENSG00000167992 MIM:611115; AllianceGenome:HGNC:26487
    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
    Also known as
    VWC1; URG11
    Summary
    Predicted to enable calcium ion binding activity. Predicted to be involved in cellular response to virus. Located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in ovary (RPKM 4.8), liver (RPKM 2.1) and 15 other tissues See more
    Orthologs
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    Genomic context

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    See VWCE in Genome Data Viewer
    Location:
    11q12.2
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (61258286..61295316, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (61240163..61284304, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (61025758..61062788, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene pepsinogen A4 Neighboring gene pepsinogen A5 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:61033788-61034987 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:61048939-61049860 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3387 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:61061839-61062541 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3389 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:61067594-61068793 Neighboring gene damage specific DNA binding protein 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61100139-61100661 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61100662-61101184 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:61112523-61113449 Neighboring gene triokinase and FMN cyclase Neighboring gene cytochrome b561 family member A3

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. URG11 served an oncogenic role in the development of prostate cancer cells.
      Title: URG11 promotes proliferation and induced apoptosis of LNCaP cells.
    2. URG11 is critical for the proliferation, migration, and invasion in prostate cancer cells
      Title: URG11 Regulates Prostate Cancer Cell Proliferation, Migration, and Invasion.
    3. silencing of URG11 altered the expression levels of cell cycleassociated genes, epithelialmesenchymal transitionassociated genes, and RhoA and ROCK1 protein levels. Thus, the results of the present study suggest that URG11 may be a potential therapeutic target, which may be important to inhibit the development and progression of prostatic hyperplasia.
      Title: Silencing of URG11 expression inhibits the proliferation and epithelial‑mesenchymal transition in benign prostatic hyperplasia cells via the RhoA/ROCK1 pathway.
    4. the study reported here provided evidence that URG11 downregulation suppresses proliferation, invasion, and beta-catenin expression in NSCLC cells. Our study uncovered a novel role for URG11 in NSCLC progression; thus, URG11 may be a novel potential therapeutic target for NSCLC.
      Title: Knockdown of Upregulated Gene 11 (URG11) Inhibits Proliferation, Invasion, and β-Catenin Expression in Non-Small Cell Lung Cancer Cells.
    5. URG11 could promote hepatocellular carcinoma (HCC) cell growth and proliferation. It might play an important role in HCC development.
      Title: [Increased expression URG11 in hepatocellular carcinoma tissues promotes the growth of hepatocellular carcinoma cells].
    6. Up-regulation of URG11 in pancreatic cancer leads to enhancing epithelial-mesenchymal transition-driven invasion and thus lead to poor prognosis.
      Title: URG11 predicts poor prognosis of pancreatic cancer by enhancing epithelial-mesenchymal transition-driven invasion.
    7. Increased expression of both URG11 was associated with decrease renal function in IgA nephropathy.
      Title: Association of URG11 and Twist with clinical pathological characteristics and prognosis in patients with IgA nephropathy.
    8. Data suggest that URG11 contributes to gastric cancer growth and metastasis at least partially through activation of beta-catenin signalling pathway.
      Title: URG11 promotes gastric cancer growth and invasion by activation of beta-catenin signalling pathway.
    9. URG11 mediates hypoxia-induced epithelial-to-mesenchymal transition through the suppression of E-cadherin and the activation of the beta-catenin/T-cell factor pathway.
      Title: URG11 mediates hypoxia-induced epithelial-to-mesenchymal transition by modulation of E-cadherin and beta-catenin.
    10. beta-catenin is activated by HBxAg, in part, through the upregulated expression of the HBxAg effector URG11; URG11 stimulates the beta-catenin promoter and hepatocellular growth and survival
      Title: Enhanced cell survival of Hep3B cells by the hepatitis B x antigen effector, URG11, is associated with upregulation of beta-catenin.
    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

    • FLJ32009

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to virus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cellular response to virus IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    von Willebrand factor C and EGF domain-containing protein
    Names
    HBV X protein up-regulated gene 11 protein
    HBxAg up-regulated gene 11 protein

    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_152718.2 → NP_689931.2  von Willebrand factor C and EGF domain-containing protein precursor

      See identical proteins and their annotated locations for NP_689931.2

      Status: VALIDATED

      Source sequence(s)
      AA328361, AK056571, AP003037, DB126089
      Consensus CDS
      CCDS8002.1
      UniProtKB/Swiss-Prot
      A5PKV0, Q7Z7L6, Q86WK8, Q96DN2
      Related
      ENSP00000334186.5, ENST00000335613.10
      Conserved Domains (5) summary
      smart00179
      Location:220 → 262
      EGF_CA; Calcium-binding EGF-like domain
      smart00214
      Location:572 → 625
      VWC; von Willebrand factor (vWF) type C domain
      pfam12662
      Location:200 → 223
      cEGF; Complement Clr-like EGF-like
      cl17735
      Location:501 → 559
      VWC; von Willebrand factor type C domain
      cl26464
      Location:726 → 944
      Atrophin-1; Atrophin-1 family

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      61258286..61295316 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047426552.1 → XP_047282508.1  von Willebrand factor C and EGF domain-containing protein isoform X8

    2. XM_017017342.2 → XP_016872831.1  von Willebrand factor C and EGF domain-containing protein isoform X7

    3. XM_047426550.1 → XP_047282506.1  von Willebrand factor C and EGF domain-containing protein isoform X3

    4. XM_047426551.1 → XP_047282507.1  von Willebrand factor C and EGF domain-containing protein isoform X6

    5. XM_017017341.1 → XP_016872830.1  von Willebrand factor C and EGF domain-containing protein isoform X2

    6. XM_011544817.1 → XP_011543119.1  von Willebrand factor C and EGF domain-containing protein isoform X5

      Conserved Domains (5) summary
      smart00179
      Location:220 → 262
      EGF_CA; Calcium-binding EGF-like domain
      smart00214
      Location:531 → 586
      VWC; von Willebrand factor (vWF) type C domain
      pfam06679
      Location:725 → 816
      DUF1180; Protein of unknown function (DUF1180)
      pfam12662
      Location:200 → 223
      cEGF; Complement Clr-like EGF-like
      cl17735
      Location:386 → 440
      VWC; von Willebrand factor type C domain

    7. XM_006718460.1 → XP_006718523.1  von Willebrand factor C and EGF domain-containing protein isoform X1

      Conserved Domains (5) summary
      smart00179
      Location:220 → 262
      EGF_CA; Calcium-binding EGF-like domain
      smart00214
      Location:621 → 676
      VWC; von Willebrand factor (vWF) type C domain
      pfam06679
      Location:815 → 906
      DUF1180; Protein of unknown function (DUF1180)
      pfam12662
      Location:200 → 223
      cEGF; Complement Clr-like EGF-like
      cl17735
      Location:501 → 559
      VWC; von Willebrand factor type C domain

    8. XM_006718462.1 → XP_006718525.1  von Willebrand factor C and EGF domain-containing protein isoform X4

      Conserved Domains (5) summary
      smart00179
      Location:220 → 262
      EGF_CA; Calcium-binding EGF-like domain
      smart00214
      Location:572 → 624
      VWC; von Willebrand factor (vWF) type C domain
      pfam06679
      Location:763 → 854
      DUF1180; Protein of unknown function (DUF1180)
      pfam12662
      Location:200 → 223
      cEGF; Complement Clr-like EGF-like
      cl17735
      Location:501 → 559
      VWC; von Willebrand factor type C domain

    9. XM_047426553.1 → XP_047282509.1  von Willebrand factor C and EGF domain-containing protein isoform X9

    10. XM_017017344.1 → XP_016872833.1  von Willebrand factor C and EGF domain-containing protein isoform X10

    RNA

    1. XR_949822.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      61240163..61284304 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368006.1 → XP_054223981.1  von Willebrand factor C and EGF domain-containing protein isoform X6

    2. XM_054368000.1 → XP_054223975.1  von Willebrand factor C and EGF domain-containing protein isoform X11

      UniProtKB/Swiss-Prot
      A5PKV0, Q7Z7L6, Q86WK8, Q96DN2

    3. XM_054368008.1 → XP_054223983.1  von Willebrand factor C and EGF domain-containing protein isoform X8

    4. XM_054368007.1 → XP_054223982.1  von Willebrand factor C and EGF domain-containing protein isoform X7

    5. XM_054368003.1 → XP_054223978.1  von Willebrand factor C and EGF domain-containing protein isoform X3

    6. XM_054368002.1 → XP_054223977.1  von Willebrand factor C and EGF domain-containing protein isoform X2

    7. XM_054368005.1 → XP_054223980.1  von Willebrand factor C and EGF domain-containing protein isoform X5

    8. XM_054368001.1 → XP_054223976.1  von Willebrand factor C and EGF domain-containing protein isoform X1

    9. XM_054368004.1 → XP_054223979.1  von Willebrand factor C and EGF domain-containing protein isoform X4

    10. XM_054368009.1 → XP_054223984.1  von Willebrand factor C and EGF domain-containing protein isoform X9

    11. XM_054368011.1 → XP_054223986.1  von Willebrand factor C and EGF domain-containing protein isoform X10

    12. XM_054368010.1 → XP_054223985.1  von Willebrand factor C and EGF domain-containing protein isoform X12

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96DN2.2 GenPept UniProtKB/Swiss-Prot:Q96DN2

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