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    VASH1 vasohibin 1 [ Homo sapiens (human) ]

    Gene ID: 22846, updated on 9-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Ubiquitous expression in brain (RPKM 12.0), placenta (RPKM 11.8) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    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

    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

    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
     
    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

    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)

    NEW Try the new Transcript table

    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_014909.5NP_055724.1  tubulinyl-Tyr carboxypeptidase 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:58302
      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_047431082.1XP_047287038.1  tubulinyl-Tyr carboxypeptidase 1 isoform X1

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

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

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

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

      Conserved Domains (1) summary
      pfam14822
      Location:1149
      Vasohibin
    6. XM_047431081.1XP_047287037.1  tubulinyl-Tyr carboxypeptidase 1 isoform X1

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

      Conserved Domains (1) summary
      pfam14822
      Location:1120
      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_054375572.1XP_054231547.1  tubulinyl-Tyr carboxypeptidase 1 isoform X1

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

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

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

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

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