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    VEPH1 ventricular zone expressed PH domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 79674, updated on 3-Apr-2024

    Summary

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    Official Symbol
    VEPH1provided by HGNC
    Official Full Name
    ventricular zone expressed PH domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:25735
    See related
    Ensembl:ENSG00000197415 MIM:609594; AllianceGenome:HGNC:25735
    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
    MELT; VEPH
    Summary
    Predicted to enable phosphatidylinositol-5-phosphate binding activity. Involved in negative regulation of SMAD protein signal transduction and negative regulation of transforming growth factor beta receptor signaling pathway. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in lung (RPKM 12.0), adrenal (RPKM 8.2) and 8 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    3q25.31-q25.32
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (157259742..157503605, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (160034311..160278175, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (156977531..157221394, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928236 Neighboring gene uncharacterized LOC105374179 Neighboring gene VISTA enhancer hs2571 Neighboring gene NANOG hESC enhancer GRCh37_chr3:156973526-156974057 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:156992312-156992853 Neighboring gene PCBP2 pseudogene 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:157216797-157217361 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:157217362-157217925 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:157220998-157221232 Neighboring gene pentraxin 3 Neighboring gene CRISPRi-validated cis-regulatory element chr3.4666 Neighboring gene solute carrier family 66 member 1 like, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_65660 Neighboring gene VISTA enhancer hs638 Neighboring gene RN7SK pseudogene 46

    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. A novel role of VEPH1 in regulating AoSMC phenotypic switching. Shi X, et al. J Cell Physiol, 2020 Dec. PMID 32342520
    2. VEPH1 expression decreases vascularisation in ovarian cancer xenografts and inhibits VEGFA and IL8 expression through inhibition of AKT activation. Shathasivam P, et al. Br J Cancer, 2017 Apr 11. PMID 28301874, Free PMC Article
    3. The adaptor protein VEPH1 interacts with the kinase domain of ERBB2 and impacts EGF signaling in ovarian cancer cells. Kollara A, et al. Cell Signal, 2023 Jun. PMID 36828346
    4. Dampened VEPH1 activates mTORC1 signaling by weakening the TSC1/TSC2 association in hepatocellular carcinoma. Dong P, et al. J Hepatol, 2020 Dec. PMID 32610114
    5. Increased androgen receptor levels and signaling in ovarian cancer cells by VEPH1 associated with suppression of SMAD3 and AKT activation. Kollara A, et al. J Steroid Biochem Mol Biol, 2020 Feb. PMID 31614206

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. VEPH1 suppresses the progression of gastric cancer by regulating the Hippo-YAP signalling pathway.
      Title: VEPH1 suppresses the progression of gastric cancer by regulating the Hippo-YAP signalling pathway.
    2. The adaptor protein VEPH1 interacts with the kinase domain of ERBB2 and impacts EGF signaling in ovarian cancer cells.
      Title: The adaptor protein VEPH1 interacts with the kinase domain of ERBB2 and impacts EGF signaling in ovarian cancer cells.
    3. Dampened VEPH1 activates mTORC1 signaling by weakening the TSC1/TSC2 association in hepatocellular carcinoma.
      Title: Dampened VEPH1 activates mTORC1 signaling by weakening the TSC1/TSC2 association in hepatocellular carcinoma.
    4. A novel role of VEPH1 in regulating AoSMC phenotypic switching.
      Title: A novel role of VEPH1 in regulating AoSMC phenotypic switching.
    5. VEPH1 acts to enhance Androgen Receptor (AR) activity in ovarian cancer cells by decreasing SMAD3 and pAKT levels, resulting in increased levels of AR protein.
      Title: Increased androgen receptor levels and signaling in ovarian cancer cells by VEPH1 associated with suppression of SMAD3 and AKT activation.
    6. Low VEPH1 expression is associated with ovarian cancer.
      Title: VEPH1 expression decreases vascularisation in ovarian cancer xenografts and inhibits VEGFA and IL8 expression through inhibition of AKT activation.
    7. studies indicate that VEPH1 inhibits TGF-beta signaling by impeding the release of activated SMAD2 from TbetaRI and may modulate TGF-beta signaling during development and cancer initiation or progression
      Title: Human ortholog of Drosophila Melted impedes SMAD2 release from TGF-β receptor I to inhibit TGF-β signaling.
    8. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    9. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study of smoking behaviours in patients with COPD.
    EBI GWAS Catalog
    Genome-wide meta-analysis for severe diabetic retinopathy.
    EBI GWAS Catalog

    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

    Clone Names

    • FLJ12604, KIAA1692, MGC111426, MGC126709, MGC142115

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatidylinositol-5-phosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of SMAD protein signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ventricular zone-expressed PH domain-containing protein homolog 1
    Names
    protein melted
    ventricular zone expressed PH domain homolog 1

    NCBI Reference Sequences (RefSeq)

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    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_001167911.2 → NP_001161383.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AB051479, AC020630, AC092944, BC111017
      Consensus CDS
      CCDS54662.1
      UniProtKB/Swiss-Prot
      Q14D04
      Related
      ENSP00000376578.2, ENST00000392833.6
      Conserved Domains (2) summary
      cd01264
      Location:671 → 779
      PH_MELT_VEPH1; Melted pleckstrin homology (PH) domain
      pfam00169
      Location:672 → 774
      PH; PH domain

    2. NM_001167912.2 → NP_001161384.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform 1

      See identical proteins and their annotated locations for NP_001161384.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AB051479, AC020630, AC092944
      Consensus CDS
      CCDS3179.1
      UniProtKB/Swiss-Prot
      D3DNL0, F5GZ91, Q14D04, Q2TAA9, Q3MIX2, Q6PEL3, Q86TL5, Q8TCR3, Q96SP7, Q9C0H1, Q9H9Q7
      Related
      ENSP00000354919.2, ENST00000362010.7
      Conserved Domains (1) summary
      cd01264
      Location:716 → 824
      PH_MELT_VEPH1; Melted pleckstrin homology (PH) domain

    3. NM_001167915.3 → NP_001161387.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform 3

      See identical proteins and their annotated locations for NP_001161387.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, 3' UTR, and coding region, compared to variant 1. Variants 4 and 5 encode the same isoform (3), which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC020630, BC057999, BC078142
      Consensus CDS
      CCDS54661.1
      UniProtKB/Swiss-Prot
      Q14D04
      Related
      ENSP00000419193.1, ENST00000494677.5

    4. NM_001167916.3 → NP_001161388.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform 3

      See identical proteins and their annotated locations for NP_001161388.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, 3' UTR, and coding region, compared to variant 1. Variants 4 and 5 encode the same isoform (3), which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC020630, BC057999
      Consensus CDS
      CCDS54661.1
      UniProtKB/Swiss-Prot
      Q14D04
      Related
      ENSP00000417268.1, ENST00000468233.5

    5. NM_001167917.1 → NP_001161389.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform 5

      See identical proteins and their annotated locations for NP_001161389.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, 3' UTR, and coding region, compared to variant 1. The encoded isoform (5) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC020630, BG194590, DA887051
      Consensus CDS
      CCDS54663.1
      UniProtKB/TrEMBL
      C9JRT0
      Related
      ENSP00000443868.1, ENST00000537559.5

    6. NM_024621.2 → NP_078897.2  ventricular zone-expressed PH domain-containing protein homolog 1 isoform 1

      See identical proteins and their annotated locations for NP_078897.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AC020630, AC092944, AK027625
      Consensus CDS
      CCDS3179.1
      UniProtKB/Swiss-Prot
      D3DNL0, F5GZ91, Q14D04, Q2TAA9, Q3MIX2, Q6PEL3, Q86TL5, Q8TCR3, Q96SP7, Q9C0H1, Q9H9Q7
      Related
      ENSP00000376577.2, ENST00000392832.6
      Conserved Domains (1) summary
      cd01264
      Location:716 → 824
      PH_MELT_VEPH1; Melted pleckstrin homology (PH) domain

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      157259742..157503605 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448927.1 → XP_047304883.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X5

    2. XM_047448922.1 → XP_047304878.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X3

    3. XM_024453748.2 → XP_024309516.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X2

      UniProtKB/Swiss-Prot
      D3DNL0, F5GZ91, Q14D04, Q2TAA9, Q3MIX2, Q6PEL3, Q86TL5, Q8TCR3, Q96SP7, Q9C0H1, Q9H9Q7
      Conserved Domains (1) summary
      cd01264
      Location:716 → 824
      PH_MELT_VEPH1; Melted pleckstrin homology (PH) domain

    4. XM_024453747.2 → XP_024309515.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X2

      UniProtKB/Swiss-Prot
      D3DNL0, F5GZ91, Q14D04, Q2TAA9, Q3MIX2, Q6PEL3, Q86TL5, Q8TCR3, Q96SP7, Q9C0H1, Q9H9Q7
      Conserved Domains (1) summary
      cd01264
      Location:716 → 824
      PH_MELT_VEPH1; Melted pleckstrin homology (PH) domain

    5. XM_047448921.1 → XP_047304877.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X3

    6. XM_024453746.2 → XP_024309514.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X2

      UniProtKB/Swiss-Prot
      D3DNL0, F5GZ91, Q14D04, Q2TAA9, Q3MIX2, Q6PEL3, Q86TL5, Q8TCR3, Q96SP7, Q9C0H1, Q9H9Q7
      Conserved Domains (1) summary
      cd01264
      Location:716 → 824
      PH_MELT_VEPH1; Melted pleckstrin homology (PH) domain

    7. XM_047448923.1 → XP_047304879.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X5

    8. XM_047448924.1 → XP_047304880.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X5

    9. XM_011513135.3 → XP_011511437.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X4

      Conserved Domains (2) summary
      cd01264
      Location:671 → 779
      PH_MELT_VEPH1; Melted pleckstrin homology (PH) domain
      pfam00169
      Location:672 → 774
      PH; PH domain

    10. XM_011513134.3 → XP_011511436.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X1

      Conserved Domains (2) summary
      cd01264
      Location:727 → 835
      PH_MELT_VEPH1; Melted pleckstrin homology (PH) domain
      pfam00169
      Location:728 → 830
      PH; PH domain

    11. XM_047448925.1 → XP_047304881.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X5

    12. XM_047448926.1 → XP_047304882.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X5

    13. XM_047448928.1 → XP_047304884.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X6

    14. XM_047448929.1 → XP_047304885.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X7

    15. XM_047448930.1 → XP_047304886.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X7

    16. XM_024453750.2 → XP_024309518.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X8

      UniProtKB/TrEMBL
      C9JRT0

    17. XM_024453749.2 → XP_024309517.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X8

      UniProtKB/TrEMBL
      C9JRT0

    18. XM_047448931.1 → XP_047304887.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      160034311..160278175 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347875.1 → XP_054203850.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X5

    2. XM_054347870.1 → XP_054203845.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X3

    3. XM_054347866.1 → XP_054203841.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X2

      UniProtKB/Swiss-Prot
      D3DNL0, F5GZ91, Q14D04, Q2TAA9, Q3MIX2, Q6PEL3, Q86TL5, Q8TCR3, Q96SP7, Q9C0H1, Q9H9Q7

    4. XM_054347867.1 → XP_054203842.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X2

      UniProtKB/Swiss-Prot
      D3DNL0, F5GZ91, Q14D04, Q2TAA9, Q3MIX2, Q6PEL3, Q86TL5, Q8TCR3, Q96SP7, Q9C0H1, Q9H9Q7

    5. XM_054347868.1 → XP_054203843.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X3

    6. XM_054347865.1 → XP_054203840.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X2

      UniProtKB/Swiss-Prot
      D3DNL0, F5GZ91, Q14D04, Q2TAA9, Q3MIX2, Q6PEL3, Q86TL5, Q8TCR3, Q96SP7, Q9C0H1, Q9H9Q7

    7. XM_054347871.1 → XP_054203846.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X5

    8. XM_054347872.1 → XP_054203847.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X5

    9. XM_054347869.1 → XP_054203844.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X4

    10. XM_054347864.1 → XP_054203839.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X1

    11. XM_054347873.1 → XP_054203848.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X5

    12. XM_054347874.1 → XP_054203849.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X5

    13. XM_054347876.1 → XP_054203851.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X6

    14. XM_054347877.1 → XP_054203852.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X7

    15. XM_054347878.1 → XP_054203853.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X7

    16. XM_054347881.1 → XP_054203856.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X8

    17. XM_054347879.1 → XP_054203854.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X8

    18. XM_054347880.1 → XP_054203855.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X8

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14D04.1 GenPept UniProtKB/Swiss-Prot:Q14D04

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