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VGLL1 Gene

protein-coding   GIFtS: 48
GCID: GC0XP135614

Vestigial-Like Family Member 1

(Previous name: vestigial like 1 (Drosophila))
  Search for VGLL1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Vestigial-Like Family Member 11 2     Transcription Cofactor Vestigial-Like Protein 12
TDU2 3 5     Vestigial Like 12
VGL12 5     vgl-12
Vestigial Like 1 (Drosophila)1     Vgl-13
TONDU2     Protein TONDU3
WUGSC:H_GS188P18.1b2     

External Ids:    HGNC: 209851   Entrez Gene: 514422   Ensembl: ENSG000001022437   OMIM: 3005835   UniProtKB: Q999903   

Export aliases for VGLL1 gene to outside databases

Previous GC identifers: GC0XP133559 GC0XP134319 GC0XP135339 GC0XP135441 GC0XP124884


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for VGLL1 Gene:
The protein encoded by this gene binds proteins of the TEA domain family of transcription factors (TEFs) through
the Vg (vestigial) homology region found in its N-terminus. It may thus function as a specific coactivator for
the mammalian TEFs. (provided by RefSeq, Sep 2009)

GeneCards Summary for VGLL1 Gene:
VGLL1 (vestigial-like family member 1) is a protein-coding gene. GO annotations related to this gene include transcription coactivator activity.

UniProtKB/Swiss-Prot: VGLL1_HUMAN, Q99990
Function: May act as a specific coactivator for the mammalian TEFs




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NC_018934.2  NT_011786.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the VGLL1 gene promoter:
         Sox5   Pbx1a   Lmo2   FOXD3   Max   AREB6   SRY   Ik-2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidVGLL1 promoter sequence
   Search Chromatin IP Primers for VGLL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat VGLL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq26.3   Ensembl cytogenetic band:  Xq26.3   HGNC cytogenetic band: Xq26.3

VGLL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VGLL1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP135614:  view genomic region     (about GC identifiers)

Start:
135,614,311 bp from pter      End:
135,638,966 bp from pter
Size:
24,656 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: VGLL1_HUMAN, Q99990 (See protein sequence)
Recommended Name: Transcription cofactor vestigial-like protein 1  
Size: 258 amino acids; 28707 Da
Subunit: Interacts with TEFs
Secondary accessions: Q5H915

Explore the universe of human proteins at neXtProt for VGLL1: NX_Q99990

Explore proteomics data for VGLL1 at MOPED


See VGLL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_057351.1  
ENSEMBL proteins: 
 ENSP00000359668   ENSP00000398360   ENSP00000388868  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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2 InterPro protein domains:
 IPR006627 TDU_repeat
 IPR011520 Vg_Tdu

Graphical View of Domain Structure for InterPro Entry Q99990

ProtoNet protein and cluster: Q99990

1 Blocks protein domain: IPB011520 Vestigial/tondu

UniProtKB/Swiss-Prot: VGLL1_HUMAN, Q99990
Similarity: Belongs to the vestigial family


Find genes that share domains with VGLL1           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: VGLL1_HUMAN, Q99990
Function: May act as a specific coactivator for the mammalian TEFs

     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003713transcription coactivator activity TAS10518497
     
Find genes that share ontologies with VGLL1           About GenesLikeMe


Phenotypes:
     1 GenomeRNAi human phenotype for VGLL1:
 Increased gamma-H2AX phosphory 

Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
VGLL1_HUMAN, Q99990: Nucleus
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus5
cytosol2
extracellular1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus NAS10518497

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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for VGLL1
Interactions:

    GeneGlobe Interaction Network for VGLL1

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

4 Interacting proteins for VGLL1 (Q999903 ENSP000003596684) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
TEAD1P283473, ENSP000003545884I2D: score=1 STRING: ENSP00000354588
TEAD2Q155623, ENSP000003107014I2D: score=1 STRING: ENSP00000310701
TEAD3Q995943, ENSP000003457724I2D: score=2 STRING: ENSP00000345772
TEAD4Q155613, ENSP000003529264I2D: score=2 STRING: ENSP00000352926
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Gene Ontology (GO): 2 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006351transcription, DNA-templated IEA--
GO:0006355regulation of transcription, DNA-templated NAS10518497

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for VGLL1



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for VGLL1 gene: 
NM_016267.3  

Unigene Cluster for VGLL1:

Vestigial like 1 (Drosophila)
Hs.496843  [show with all ESTs]
Unigene Representative Sequence: NM_016267
4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000370634(uc004ezy.3) ENST00000440515 ENST00000456412 ENST00000470358

miRNA
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  QuantiFast Probe-based Assays in human, mouse, rat VGLL1

Additional mRNA sequence: 

AF137387.1 AK309912.1 BC000045.1 BC003362.1 

4 DOTS entries:

DT.451550  DT.86802990  DT.97840907  DT.40107609 

Selected AceView cDNA sequences (see all 142):

AI149187 BM797250 CA311702 AI871871 CR607030 CR614664 CR625530 CR590059 
BX337420 NM_016267 CR609159 BC003362 CR608272 BC000045 AL544599 BM844101 
AI262719 AI383337 CR595192 BE535201 BM844553 CR610361 CR612495 CR608710 

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for VGLL1    About this scheme

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c
SP1:                                -                           
SP2:                          -     -                           
SP3:                                                            


ECgene alternative splicing isoforms for VGLL1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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VGLL1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GCTGTGAATC
VGLL1 Expression
About this image


VGLL1 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 6) fully expand
 
 Placenta (Extraembryonic Tissues)
         Syncytiotrophoblast-like cells
 
 Trophoblast (Extraembryonic Tissues)
         Mural Trophectoderm Cells Mural Trophectoderm
 
 Liver (Hepatobiliary System)
         Hepatocyte-like cells
 
 NULL (Uncategorized)
         Vascular endothelial growth factor-induced cells
 
 Neural Ectoderm (Nervous System)
         Neural ectoderm cells
VGLL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

VGLL1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.496843
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In Situ
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for VGLL1 gene from Selected species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Vgll11 , 5 vestigial like 1 homolog (Drosophila)1, 5 71.93(n)1
53.51(a)1
  X (30.89 cM)5
1708281  NM_133251.11  NP_573514.11 
 570881065 
chicken
(Gallus gallus)
Aves VGLL11 vestigial like 1 (Drosophila) 57.56(n)
45.88(a)
  770844  XM_004940681.1  XP_004940738.1 
lizard
(Anolis carolinensis)
Reptilia VGLL16
vestigial like 1 (Drosophila)
56(a)
1 ↔ 1
GL343562.1(171769-171957)
tropical clawed frog
(Xenopus tropicalis)
Amphibia 1420059412   -- 72.53(n)    142005941 


ENSEMBL Gene Tree for VGLL1 (if available)
TreeFam Gene Tree for VGLL1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for VGLL1 gene
1 SIMAP similar gene for VGLL1 using alignment to 3 protein entries:     VGLL1_HUMAN (see all proteins):
WUGSC

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(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for VGLL1 (see all 362)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr X posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1928067221,2
--135570722(+) AAGTCA/GGGATA 1 -- us2k10--------
rs1470008421,2
--135570813(+) TGTGTC/GTGTGT 1 -- us2k10--------
rs1858818261,2
--135570845(+) GCTCTA/GTCACC 1 -- us2k10--------
rs1382178081,2
--135570912(+) CAAGCG/TATCCT 1 -- us2k10--------
rs1120973121,2
C,F--135571155(+) TAGCTG/ATTTTG 1 -- us2k11Minor allele frequency- A:0.00CSA 1
rs1459254211,2
C--135571167(+) AATACA/TTAATA 1 -- us2k10--------
rs1386161211,2
C--135571586(+) TTCAGA/GATATG 1 -- us2k10--------
rs1903572731,2
--135571612(+) AACCCC/TTCTGG 1 -- us2k10--------
rs1493649991,2
--135571857(+) ACCTTA/GTCAGA 1 -- us2k10--------
rs1809771911,2
--135572105(+) CAGTTC/GGCATT 1 -- us2k10--------

HapMap Linkage Disequilibrium report for VGLL1 (135614311 - 135638966 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for VGLL1: --
Locus Specific Mutation Databases (LSDB): VGLL1

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing VGLL1
DNA2.0 Custom Variant and Variant Library Synthesis for VGLL1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 300583    OMIM disorders: --


Find genes that share disorders with VGLL1           About GenesLikeMe


Export disorders for VGLL1 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for VGLL1 gene integrated from 10 sources:
(articles sorted by number of sources associating them with VGLL1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. TONDU (TDU), a novel human protein related to the product of vestigial (vg) gene of Drosophila melanogaster interacts with vertebrate TEF factors and substitutes for Vg function in wing formation. (PubMed id 10518497)1, 2, 3, 9 Vaudin P.... Zider A. (Development 1999)
  2. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  5. Mammalian vestigial-like 2, a cofactor of TEF-1 and MEF2 transcription factors that promotes skeletal muscle differentiation. (PubMed id 12376544)9 Maeda T.... Stewart A.F.R. (J. Biol. Chem. 2002)
  6. The transcriptional co-activator TAZ interacts differentially with transcriptional enhancer factor-1 (TEF-1) family members. (PubMed id 15628970)9 Mahoney W.M....Farrance I.K. (Biochem. J. 2005)
  7. VITO-1, a novel vestigial related protein is predominantly expressed in the skeletal muscle lineage. (PubMed id 14516696)9 Mielcarek M....Braun T. (Mech. Dev. 2002)
  8. VITO-1, a novel vestigial related protein is predominantly expressed in the skeletal muscle lineage. (PubMed id 12617818)9 Mielcarek M.... Braun T. (Gene Expr. Patterns 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 51442 HGNC: 20985 AceView: VGLL1 Ensembl:ENSG00000102243 euGenes: HUgn51442
ECgene: VGLL1 H-InvDB: VGLL1

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for VGLL1 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for VGLL1 gene:
Search GeneIP for patents involving VGLL1

GeneCards and IP:
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(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 OriGene Antibodies for VGLL1   OriGene RNAi products in human, mouse, rat for VGLL1  
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 OriGene Custom Antibody Services for VGLL1   OriGene Custom Protein Services for VGLL1  

 
 
 Block miRNA regulation of human, mouse, rat VGLL1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing VGLL1
 DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat VGLL1 Predesigned siRNA for gene silencing in human, mouse, rat VGLL1
 QuantiFast Probe-based Assays in human, mouse, rat VGLL1 QuantiTect SYBR Green Assays in human, mouse, rat VGLL1
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 Pre-validated RT2 qPCR Primer Assay in human, mouse, rat VGLL1  GeneGlobe Interaction Network for VGLL1
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 Search Tocris compounds for VGLL1
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 Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

 Novus Tissue Slides
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 Browse ESI BIO Cell Lines and PureStem Progenitors for VGLL1
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 SwitchGear 3'UTR luciferase reporter plasmids for VGLL1
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 Search ThermoFisher Antibodies for VGLL1
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VGLL1
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for VGLL1
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 Browse compounds at ApexBio
 Search Addgene for plasmids for VGLL1
  Search eBioscience for proteins for VGLL1
  Search eBioscience for elisas for VGLL1
  eBioscience FlowRNA Probe Sets
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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