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

Gene ID: 220001, updated on 23-Nov-2023

Summary

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. Involved in cellular response to virus. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
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

See VWCE in Genome Data Viewer
Location:
11q12.2
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (61258286..61295316, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (61240163..61284304, complement)
105.20220307 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

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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_152718.2NP_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:220262
    EGF_CA; Calcium-binding EGF-like domain
    smart00214
    Location:572625
    VWC; von Willebrand factor (vWF) type C domain
    pfam12662
    Location:200223
    cEGF; Complement Clr-like EGF-like
    cl17735
    Location:501559
    VWC; von Willebrand factor type C domain
    cl26464
    Location:726944
    Atrophin-1; Atrophin-1 family

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_000011.10 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

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

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

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

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

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

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

    Conserved Domains (5) summary
    smart00179
    Location:220262
    EGF_CA; Calcium-binding EGF-like domain
    smart00214
    Location:531586
    VWC; von Willebrand factor (vWF) type C domain
    pfam06679
    Location:725816
    DUF1180; Protein of unknown function (DUF1180)
    pfam12662
    Location:200223
    cEGF; Complement Clr-like EGF-like
    cl17735
    Location:386440
    VWC; von Willebrand factor type C domain
  7. XM_006718460.1XP_006718523.1  von Willebrand factor C and EGF domain-containing protein isoform X1

    Conserved Domains (5) summary
    smart00179
    Location:220262
    EGF_CA; Calcium-binding EGF-like domain
    smart00214
    Location:621676
    VWC; von Willebrand factor (vWF) type C domain
    pfam06679
    Location:815906
    DUF1180; Protein of unknown function (DUF1180)
    pfam12662
    Location:200223
    cEGF; Complement Clr-like EGF-like
    cl17735
    Location:501559
    VWC; von Willebrand factor type C domain
  8. XM_006718462.1XP_006718525.1  von Willebrand factor C and EGF domain-containing protein isoform X4

    Conserved Domains (5) summary
    smart00179
    Location:220262
    EGF_CA; Calcium-binding EGF-like domain
    smart00214
    Location:572624
    VWC; von Willebrand factor (vWF) type C domain
    pfam06679
    Location:763854
    DUF1180; Protein of unknown function (DUF1180)
    pfam12662
    Location:200223
    cEGF; Complement Clr-like EGF-like
    cl17735
    Location:501559
    VWC; von Willebrand factor type C domain
  9. XM_047426553.1XP_047282509.1  von Willebrand factor C and EGF domain-containing protein isoform X9

  10. XM_017017344.1XP_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_054368006.1XP_054223981.1  von Willebrand factor C and EGF domain-containing protein isoform X6

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

    UniProtKB/Swiss-Prot
    A5PKV0, Q7Z7L6, Q86WK8, Q96DN2
  3. XM_054368008.1XP_054223983.1  von Willebrand factor C and EGF domain-containing protein isoform X8

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

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

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

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

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

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

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

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

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