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

Gene ID: 220001, updated on 28-Oct-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, Oct 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 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. Upregulated expression of a unique gene by hepatitis B x antigen promotes hepatocellular growth and tumorigenesis. Lian Z, et al. Neoplasia, 2003 May-Jun. PMID 12869306, Free PMC Article
  2. URG11 promotes proliferation and induced apoptosis of LNCaP cells. Sun C, et al. Int J Mol Med, 2019 May. PMID 30864678, Free PMC Article
  3. URG11 Regulates Prostate Cancer Cell Proliferation, Migration, and Invasion. Pan B, et al. Biomed Res Int, 2018. PMID 29955600, Free PMC Article
  4. Knockdown of Upregulated Gene 11 (URG11) Inhibits Proliferation, Invasion, and β-Catenin Expression in Non-Small Cell Lung Cancer Cells. Liu ZL, et al. Oncol Res, 2016. PMID 27458101, Free PMC Article
  5. [Increased expression URG11 in hepatocellular carcinoma tissues promotes the growth of hepatocellular carcinoma cells]. Xie H, et al. Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi, 2015 Nov. PMID 26522362

See all (21) citations in PubMed

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)

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

  • FLJ32009

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables molecular_function ND
No biological Data available
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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