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VASH1 vasohibin 1 [ Homo sapiens (human) ]

Gene ID: 22846, updated on 2-Nov-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 proliferation; negative regulation of lymphangiogenesis; and regulation of cellular senescence. 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, Nov 2024]
Expression
Ubiquitous expression in brain (RPKM 12.0), placenta (RPKM 11.8) and 25 other tissues See more
Orthologs
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (76761468..76783015)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (70970762..70992327)
RS_2024_09 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 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Vasohibin inhibition improves myocardial relaxation in a rat model of heart failure with preserved ejection fraction.
    Title: Vasohibin inhibition improves myocardial relaxation in a rat model of heart failure with preserved ejection fraction.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (72)

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)

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_2024_08

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

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