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

Gene ID: 79674, updated on 23-Nov-2021

Summary

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
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
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

See VEPH1 in Genome Data Viewer
Location:
3q25.31-q25.32
Exon count:
19
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (157259742..157503777, complement)
105.20201022 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 poly(rC) binding protein 1 pseudogene Neighboring gene uncharacterized LOC105374179 Neighboring gene VISTA enhancer hs2571 Neighboring gene pentraxin 3 Neighboring gene CRISPRi-validated cis-regulatory element chr3.4666 Neighboring gene solute carrier family 66 member 1 like

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?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study of smoking behaviours in patients with COPD.
GeneReviews: Not available
Genome-wide meta-analysis for severe diabetic retinopathy.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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_001167911.2NP_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:671779
    PH_MELT_VEPH1; Melted pleckstrin homology (PH) domain
    pfam00169
    Location:672774
    PH; PH domain
  2. NM_001167912.2NP_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
    Q14D04
    Related
    ENSP00000354919.2, ENST00000362010.7
    Conserved Domains (1) summary
    cd01264
    Location:716824
    PH_MELT_VEPH1; Melted pleckstrin homology (PH) domain
  3. NM_001167915.3NP_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_001167916.3NP_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_001167917.1NP_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/Swiss-Prot
    Q14D04
    Related
    ENSP00000443868.1, ENST00000537559.5
  6. NM_024621.2NP_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
    Q14D04
    Related
    ENSP00000376577.2, ENST00000392832.6
    Conserved Domains (1) summary
    cd01264
    Location:716824
    PH_MELT_VEPH1; Melted pleckstrin homology (PH) domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    157259742..157503777 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    cd01264
    Location:716824
    PH_MELT_VEPH1; Melted pleckstrin homology (PH) domain
  2. XM_024453747.1XP_024309515.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X2

    Conserved Domains (1) summary
    cd01264
    Location:716824
    PH_MELT_VEPH1; Melted pleckstrin homology (PH) domain
  3. XM_024453746.1XP_024309514.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X2

    Conserved Domains (1) summary
    cd01264
    Location:716824
    PH_MELT_VEPH1; Melted pleckstrin homology (PH) domain
  4. XM_011513134.2XP_011511436.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X1

    Conserved Domains (2) summary
    cd01264
    Location:727835
    PH_MELT_VEPH1; Melted pleckstrin homology (PH) domain
    pfam00169
    Location:728830
    PH; PH domain
  5. XM_011513135.2XP_011511437.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X3

    Conserved Domains (2) summary
    cd01264
    Location:671779
    PH_MELT_VEPH1; Melted pleckstrin homology (PH) domain
    pfam00169
    Location:672774
    PH; PH domain
  6. XM_024453750.1XP_024309518.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X4

  7. XM_024453749.1XP_024309517.1  ventricular zone-expressed PH domain-containing protein homolog 1 isoform X4

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