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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
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Genomic context

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See VEPH1 in Genome Data Viewer
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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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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