Aliases for VASH1 Gene

Aliases for VASH1 Gene

  • Vasohibin 1 2 3 5
  • KIAA1036 2 3 4
  • Tubulinyl-Tyr Carboxypeptidase 1 3 4
  • Tyrosine Carboxypeptidase 1 3 4
  • Tubulin Carboxypeptidase 1 3 4
  • TTCP 1 3 4
  • EC 3.4.17.17 4
  • Vasohibin-1 4
  • VASH1 5
  • VASH 4

External Ids for VASH1 Gene

Previous HGNC Symbols for VASH1 Gene

  • KIAA1036

Previous GeneCards Identifiers for VASH1 Gene

  • GC14P076299
  • GC14P077228
  • GC14P057396

Summaries for VASH1 Gene

GeneCards Summary for VASH1 Gene

VASH1 (Vasohibin 1) is a Protein Coding gene. Diseases associated with VASH1 include Myasthenic Syndrome, Congenital, 14. An important paralog of this gene is VASH2.

UniProtKB/Swiss-Prot Summary for VASH1 Gene

  • Tyrosine carboxypeptidase that removes the C-terminal tyrosine residue of alpha-tubulin, thereby regulating microtubule dynamics and function (PubMed:29146869, PubMed:31270470, PubMed:31235910, PubMed:31171830, PubMed:31235911). Critical for spindle function and accurate chromosome segregation during mitosis since microtuble detyronisation regulates mitotic spindle length and postioning (PubMed:31171830). Acts as an angiogenesis inhibitor: inhibits migration, proliferation and network formation by endothelial cells as well as angiogenesis (PubMed:15467828, PubMed:16488400, PubMed:16707096, PubMed:19204325). This inhibitory effect is selective to endothelial cells as it does not affect the migration of smooth muscle cells or fibroblasts (PubMed:15467828, PubMed:16488400, PubMed:16707096).

Gene Wiki entry for VASH1 Gene

Additional gene information for VASH1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for VASH1 Gene

Genomics for VASH1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for VASH1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around VASH1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for VASH1

Top Transcription factor binding sites by QIAGEN in the VASH1 gene promoter:
  • AhR
  • Arnt
  • CUTL1
  • Egr-1
  • Egr-3
  • Egr-4
  • LCR-F1
  • LUN-1
  • MyoD

Genomic Locations for VASH1 Gene

Genomic Locations for VASH1 Gene
chr14:76,761,457-76,783,017
(GRCh38/hg38)
Size:
21,561 bases
Orientation:
Plus strand
chr14:77,228,235-77,249,363
(GRCh37/hg19)
Size:
21,129 bases
Orientation:
Plus strand

Genomic View for VASH1 Gene

Genes around VASH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VASH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VASH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VASH1 Gene

Proteins for VASH1 Gene

  • Protein details for VASH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7L8A9-VASH1_HUMAN
    Recommended name:
    Tubulinyl-Tyr carboxypeptidase 1
    Protein Accession:
    Q7L8A9
    Secondary Accessions:
    • Q96H02
    • Q9UBF4
    • Q9Y629

    Protein attributes for VASH1 Gene

    Size:
    365 amino acids
    Molecular mass:
    40957 Da
    Quaternary structure:
    • Interacts with SVBP; interaction enhances VASH1 tyrosine carboxypeptidase activity.
    SequenceCaution:
    • Sequence=AAD44361.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAA82988.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for VASH1 Gene

    Alternative splice isoforms for VASH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VASH1 Gene

Post-translational modifications for VASH1 Gene

  • 2 major forms (42 and 36 kDa) and 2 minors (32 and 27 kDa) may be processed by proteolytic cleavage (PubMed:16488400). The largest form (42 kDa) seems to be secreted and the other major form (63 kDa) seems to accumulate within the cells or pericellular milieu (PubMed:16488400). Polypeptide consisting of Met-77 to Arg-318 may correspond to the 27 kDa form and that consisting of Met-77 to Val-365 may correspond to the 36 kDa form (PubMed:16488400).
  • Ubiquitinated in vitro.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for VASH1 Gene

Antibody Products

  • Abcam antibodies for VASH1

No data available for DME Specific Peptides for VASH1 Gene

Domains & Families for VASH1 Gene

Gene Families for VASH1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for VASH1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for VASH1 Gene

GenScript: Design optimal peptide antigens:
  • Vasohibin-1 (VASH1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7L8A9

UniProtKB/Swiss-Prot:

VASH1_HUMAN :
  • Belongs to the transglutaminase-like superfamily. Vasohibin family.
Family:
  • Belongs to the transglutaminase-like superfamily. Vasohibin family.
genes like me logo Genes that share domains with VASH1: view

Function for VASH1 Gene

Molecular function for VASH1 Gene

UniProtKB/Swiss-Prot Function:
Tyrosine carboxypeptidase that removes the C-terminal tyrosine residue of alpha-tubulin, thereby regulating microtubule dynamics and function (PubMed:29146869, PubMed:31270470, PubMed:31235910, PubMed:31171830, PubMed:31235911). Critical for spindle function and accurate chromosome segregation during mitosis since microtuble detyronisation regulates mitotic spindle length and postioning (PubMed:31171830). Acts as an angiogenesis inhibitor: inhibits migration, proliferation and network formation by endothelial cells as well as angiogenesis (PubMed:15467828, PubMed:16488400, PubMed:16707096, PubMed:19204325). This inhibitory effect is selective to endothelial cells as it does not affect the migration of smooth muscle cells or fibroblasts (PubMed:15467828, PubMed:16488400, PubMed:16707096).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=C-terminal L-tyrosyl-L-glutamyl-L-glutamyl-[alpha-tubulin] + H2O = C-terminal detyrosinated L-glutamyl-L-glutamyl-[alpha-tubulin] + L-tyrosine; Xref=Rhea:RHEA:57444, Rhea:RHEA-COMP:14902, Rhea:RHEA-COMP:14903, ChEBI:CHEBI:15377, ChEBI:CHEBI:58315, ChEBI:CHEBI:141768, ChEBI:CHEBI:141769; EC=3.4.17.17; Evidence={ECO:0000269|PubMed:29146869, ECO:0000269|PubMed:31171830, ECO:0000269|PubMed:31235910};.
UniProtKB/Swiss-Prot Induction:
By VEGF.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=7.9 uM for alpha-tubulin C-terminal tail {ECO:0000269|PubMed:31235910}; Note=Kcat is 44.5 (min-1) for alpha-tubulin C-terminal tail. {ECO:0000269|PubMed:31235910};

Enzyme Numbers (IUBMB) for VASH1 Gene

Phenotypes From GWAS Catalog for VASH1 Gene

Gene Ontology (GO) - Molecular Function for VASH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IDA 29146869
GO:0004180 carboxypeptidase activity IEA --
GO:0004181 metallocarboxypeptidase activity IMP 31171830
GO:0005515 protein binding IPI 25416956
GO:0008233 peptidase activity IEA --
genes like me logo Genes that share ontologies with VASH1: view

Phenotypes for VASH1 Gene

genes like me logo Genes that share phenotypes with VASH1: view

Animal Models for VASH1 Gene

MGI Knock Outs for VASH1:

Animal Model Products

CRISPR Products

miRNA for VASH1 Gene

miRTarBase miRNAs that target VASH1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VASH1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for VASH1 Gene

Localization for VASH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for VASH1 Gene

Cytoplasm. Secreted. Note=Mainly localizes in the cytoplasm (PubMed:27879017). Some fraction is secreted via a non-canonical secretion system; interaction with SVBP promotes secretion (PubMed:27879017). {ECO:0000269 PubMed:27879017}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for VASH1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
plasma membrane 1
lysosome 1

Gene Ontology (GO) - Cellular Components for VASH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IDA 15467828
GO:0005737 cytoplasm IDA 15467828
GO:0005783 endoplasmic reticulum IDA 15467828
GO:0045177 apical part of cell IDA 20736312
genes like me logo Genes that share ontologies with VASH1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for VASH1 Gene

Pathways & Interactions for VASH1 Gene

PathCards logo

SuperPathways for VASH1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for VASH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IDA 15467828
GO:0001937 negative regulation of endothelial cell proliferation IDA 15467828
GO:0006508 proteolysis IEA,IDA 29146869
GO:0007049 cell cycle IEA --
GO:0007050 cell cycle arrest IEA --
genes like me logo Genes that share ontologies with VASH1: view

No data available for Pathways by source and SIGNOR curated interactions for VASH1 Gene

Drugs & Compounds for VASH1 Gene

(1) Additional Compounds for VASH1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with VASH1: view

Transcripts for VASH1 Gene

mRNA/cDNA for VASH1 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VASH1

Alternative Splicing Database (ASD) splice patterns (SP) for VASH1 Gene

No ASD Table

Relevant External Links for VASH1 Gene

GeneLoc Exon Structure for
VASH1

Expression for VASH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for VASH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for VASH1 Gene

This gene is overexpressed in Fetal Brain (65.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for VASH1 Gene



Protein tissue co-expression partners for VASH1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for VASH1

SOURCE GeneReport for Unigene cluster for VASH1 Gene:

Hs.525479

mRNA Expression by UniProt/SwissProt for VASH1 Gene:

Q7L8A9-VASH1_HUMAN
Tissue specificity: Preferentially expressed in endothelial cells (PubMed:15467828, PubMed:16707096). Highly expressed in fetal organs (PubMed:15467828). Expressed in brain and placenta, and at lower level in heart and kidney (PubMed:15467828). Highly detected in microvessels endothelial cells of atherosclerotic lesions (PubMed:16707096).

Evidence on tissue expression from TISSUES for VASH1 Gene

  • Nervous system(4.6)
  • Heart(2.8)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with VASH1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for VASH1 Gene

Orthologs for VASH1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for VASH1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia VASH1 30 31
  • 99.27 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia VASH1 30 31
  • 94.67 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia VASH1 30 31
  • 93.02 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia VASH1 31
  • 92 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Vash1 30 17 31
  • 88.68 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Vash1 30
  • 88.4 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia VASH1 31
  • 87 (a)
OneToOne
Chicken
(Gallus gallus)
Aves VASH1 30 31
  • 83.1 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia VASH1 31
  • 86 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia vash1 30
  • 66.99 (n)
Zebrafish
(Danio rerio)
Actinopterygii VASH1 31
  • 73 (a)
OneToOne
LOC100001748 30
  • 72.95 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 42 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.5764 30
Species where no ortholog for VASH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for VASH1 Gene

ENSEMBL:
Gene Tree for VASH1 (if available)
TreeFam:
Gene Tree for VASH1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for VASH1: view image

Paralogs for VASH1 Gene

Paralogs for VASH1 Gene

(1) SIMAP similar genes for VASH1 Gene using alignment to 2 proteins:

  • VASH1_HUMAN
  • G3V4N9_HUMAN
genes like me logo Genes that share paralogs with VASH1: view

Variants for VASH1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for VASH1 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
723598 Benign: not provided 76,776,081(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for VASH1 Gene

Variation tolerance for VASH1 Gene

Residual Variation Intolerance Score: 25.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.78; 16.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for VASH1 Gene

Human Gene Mutation Database (HGMD)
VASH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
VASH1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for VASH1 Gene

Disorders for VASH1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for VASH1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
myasthenic syndrome, congenital, 14
  • cms14
- elite association - COSMIC cancer census association via MalaCards
Search VASH1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with VASH1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for VASH1 Gene

Publications for VASH1 Gene

  1. Multiple processing forms and their biological activities of a novel angiogenesis inhibitor vasohibin. (PMID: 16488400) Sonoda H … Sato Y (Biochemical and biophysical research communications 2006) 3 4 23
  2. Vasohibin prevents arterial neointimal formation through angiogenesis inhibition. (PMID: 16707096) Yamashita H … Sato Y (Biochemical and biophysical research communications 2006) 3 4 23
  3. Gene regulation of a novel angiogenesis inhibitor, vasohibin, in endothelial cells. (PMID: 15649403) Shimizu K … Sato Y (Biochemical and biophysical research communications 2005) 3 4 23
  4. Vasohibin as an endothelium-derived negative feedback regulator of angiogenesis. (PMID: 15467828) Watanabe K … Sato Y (The Journal of clinical investigation 2004) 3 4 23
  5. Structural basis of tubulin detyrosination by vasohibins. (PMID: 31235910) Li F … Yu H (Nature structural & molecular biology 2019) 3 4

Products for VASH1 Gene

Sources for VASH1 Gene