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    VASH1 vasohibin 1 [ Homo sapiens (human) ]

    Gene ID: 22846, updated on 2-May-2024

    Summary

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    Official Symbol
    VASH1provided by HGNC
    Official Full Name
    vasohibin 1provided by HGNC
    Primary source
    HGNC:HGNC:19964
    See related
    Ensembl:ENSG00000071246 MIM:609011; AllianceGenome:HGNC:19964
    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
    TTCP 1; KIAA1036
    Summary
    Enables actin binding activity and metallocarboxypeptidase activity. Involved in negative regulation of angiogenesis; negative regulation of blood vessel endothelial cell migration; and proteolysis. Acts upstream of or within several processes, including negative regulation of endothelial cell migration; negative regulation of endothelial cell proliferation; and negative regulation of lymphangiogenesis. Located in apical part of cell; endoplasmic reticulum; and extracellular space. Implicated in liver cirrhosis and portal hypertension. Biomarker of liver cirrhosis. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in brain (RPKM 12.0), placenta (RPKM 11.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See VASH1 in Genome Data Viewer
    Location:
    14q24.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (76761468..76783015)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (70970762..70992327)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (77227811..77249358)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene H1-8 pseudogene 2 Neighboring gene uncharacterized LOC105370577 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8771 Neighboring gene MPRA-validated peak2205 silencer Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:77217211-77217770 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5957 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5958 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:77241882-77242840 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8772 Neighboring gene VASH1 antisense RNA 1 Neighboring gene angel homolog 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:77278266-77278840 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:77278841-77279414 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:77288377-77289157 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:77294675-77295362 Neighboring gene Sharpr-MPRA regulatory region 2360 Neighboring gene leucine rich repeat containing 74A

    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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    Related articles in PubMed

    1. Significance of vasohibin 1 in cancer patients: A systematic review and meta analysis. Liu S, et al. J Cancer Res Ther, 2022 Apr. PMID 35645129
    2. Serum levels of vasohibin-1 in type 2 diabetes mellitus patients with diabetic retinopathy. Feng Y, et al. Eur J Ophthalmol, 2022 Sep. PMID 35001686
    3. Vasohibin-1 expression as a biomarker of aggressive nature in ductal adenocarcinoma of the prostate: a retrospective cohort study at two centres in Japan. Kobayashi H, et al. BMJ Open, 2021 Nov 24. PMID 34819292, Free PMC Article
    4. Vasohibin 1, a clinically relevant biomarker, contributes to pre-eclampsia. Liang Y, et al. Int J Clin Pract, 2021 May. PMID 33491841
    5. Vasoinhibin reduces joint inflammation, bone loss, and the angiogenesis and vasopermeability of the pannus in murine antigen-induced arthritis. Ortiz G, et al. Lab Invest, 2020 Aug. PMID 32341517

    See all (87) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. m[6]A methylation-mediated regulation of LncRNA MEG3 suppresses ovarian cancer progression through miR-885-5p and the VASH1 pathway.
      Title: m(6)A methylation-mediated regulation of LncRNA MEG3 suppresses ovarian cancer progression through miR-885-5p and the VASH1 pathway.
    2. Revealing the inhibitory effect of VASH1 on ovarian cancer from multiple perspectives.
      Title: Revealing the inhibitory effect of VASH1 on ovarian cancer from multiple perspectives.
    3. Mechanism of ELL-associated factor 2 and vasohibin 1 regulating invasion, migration, and angiogenesis in colorectal cancer.
      Title: Mechanism of ELL-associated factor 2 and vasohibin 1 regulating invasion, migration, and angiogenesis in colorectal cancer.
    4. ZNF667 facilitates angiogenesis after myocardial ischemia through transcriptional regulation of VASH1 and Wnt signaling pathway.
      Title: ZNF667 facilitates angiogenesis after myocardial ischemia through transcriptional regulation of VASH1 and Wnt signaling pathway.
    5. Serum levels of vasohibin-1 in type 2 diabetes mellitus patients with diabetic retinopathy.
      Title: Serum levels of vasohibin-1 in type 2 diabetes mellitus patients with diabetic retinopathy.
    6. Significance of vasohibin 1 in cancer patients: A systematic review and meta analysis.
      Title: Significance of vasohibin 1 in cancer patients: A systematic review and meta analysis.
    7. Vasohibin-1 and -2 in pulmonary lymphangioleiomyomatosis (LAM) cells associated with angiogenic and prognostic factors.
      Title: Vasohibin-1 and -2 in pulmonary lymphangioleiomyomatosis (LAM) cells associated with angiogenic and prognostic factors.
    8. Vasohibin-1 expression as a biomarker of aggressive nature in ductal adenocarcinoma of the prostate: a retrospective cohort study at two centres in Japan.
      Title: Vasohibin-1 expression as a biomarker of aggressive nature in ductal adenocarcinoma of the prostate: a retrospective cohort study at two centres in Japan.
    9. Tubulin carboxypeptidase activity of vasohibin-1 inhibits angiogenesis by interfering with endocytosis and trafficking of pro-angiogenic factor receptors.
      Title: Tubulin carboxypeptidase activity of vasohibin-1 inhibits angiogenesis by interfering with endocytosis and trafficking of pro-angiogenic factor receptors.
    10. Depletion of Vasohibin 1 Speeds Contraction and Relaxation in Failing Human Cardiomyocytes.
      Title: Depletion of Vasohibin 1 Speeds Contraction and Relaxation in Failing Human Cardiomyocytes.
    Submit: New GeneRIF Correction See all GeneRIFs (71)

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metallocarboxypeptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metallocarboxypeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables tubulin-tyrosine carboxypeptidase IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within angiogenesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in labyrinthine layer blood vessel development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of angiogenesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of angiogenesis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in negative regulation of blood vessel endothelial cell migration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of endothelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of endothelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of lymphangiogenesis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in proteolysis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of angiogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within regulation of cellular senescence IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within response to wounding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in apical part of cell IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    tubulinyl-Tyr carboxypeptidase 1
    Names
    tubulin carboxypeptidase 1
    tyrosine carboxypeptidase 1
    NP_055724.1
    XP_016876576.1
    XP_016876580.1
    XP_047287037.1
    XP_047287038.1
    XP_047287039.1
    XP_047287040.1
    XP_047287041.1
    XP_054231547.1
    XP_054231548.1
    XP_054231549.1
    XP_054231550.1
    XP_054231551.1
    XP_054231552.1

    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_014909.5 → NP_055724.1  tubulinyl-Tyr carboxypeptidase 1

      See identical proteins and their annotated locations for NP_055724.1

      Status: VALIDATED

      Source sequence(s)
      AB028959, AC007376, AL832588, BC051896, BE674799, BF741850
      Consensus CDS
      CCDS9851.1
      UniProtKB/Swiss-Prot
      Q7L8A9, Q96H02, Q9UBF4, Q9Y629
      UniProtKB/TrEMBL
      A8K5R2
      Related
      ENSP00000167106.4, ENST00000167106.9
      Conserved Domains (1) summary
      pfam14822
      Location:58 → 302
      Vasohibin

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      76761468..76783015
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431082.1 → XP_047287038.1  tubulinyl-Tyr carboxypeptidase 1 isoform X1

    2. XM_047431084.1 → XP_047287040.1  tubulinyl-Tyr carboxypeptidase 1 isoform X1

    3. XM_047431083.1 → XP_047287039.1  tubulinyl-Tyr carboxypeptidase 1 isoform X1

    4. XM_047431085.1 → XP_047287041.1  tubulinyl-Tyr carboxypeptidase 1 isoform X1

    5. XM_017021087.2 → XP_016876576.1  tubulinyl-Tyr carboxypeptidase 1 isoform X1

      Conserved Domains (1) summary
      pfam14822
      Location:1 → 149
      Vasohibin

    6. XM_047431081.1 → XP_047287037.1  tubulinyl-Tyr carboxypeptidase 1 isoform X1

    7. XM_017021091.2 → XP_016876580.1  tubulinyl-Tyr carboxypeptidase 1 isoform X2

      Conserved Domains (1) summary
      pfam14822
      Location:1 → 120
      Vasohibin

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      70970762..70992327
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375572.1 → XP_054231547.1  tubulinyl-Tyr carboxypeptidase 1 isoform X1

    2. XM_054375575.1 → XP_054231550.1  tubulinyl-Tyr carboxypeptidase 1 isoform X1

    3. XM_054375574.1 → XP_054231549.1  tubulinyl-Tyr carboxypeptidase 1 isoform X1

    4. XM_054375576.1 → XP_054231551.1  tubulinyl-Tyr carboxypeptidase 1 isoform X1

    5. XM_054375573.1 → XP_054231548.1  tubulinyl-Tyr carboxypeptidase 1 isoform X1

    6. XM_054375577.1 → XP_054231552.1  tubulinyl-Tyr carboxypeptidase 1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7L8A9.1 GenPept UniProtKB/Swiss-Prot:Q7L8A9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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