This gene was originally isolated by subtractive hybridization of cDNAs expressed in atherosclerotic plaques with a thrombus, and was found to be expressed only in vascular smooth muscle cells. However, a shorter splice variant was found to be more ubiquitously expressed. This protein is suggested to play a role in the development of atherosclerosis. Studies in mice suggest tha... See more...

Aliases for GPBP1 Gene

Aliases for GPBP1 Gene

  • GC-Rich Promoter Binding Protein 1 2 3 5
  • Vascular Wall-Linked Protein 3 4
  • Vasculin 3 4
  • GPBP 3 4
  • SSH6 3 4
  • GC-Rich Promoter-Binding Protein 1 4
  • VASCULIN 3

External Ids for GPBP1 Gene

Previous GeneCards Identifiers for GPBP1 Gene

  • GC05P056506
  • GC05P053441

Summaries for GPBP1 Gene

Entrez Gene Summary for GPBP1 Gene

  • This gene was originally isolated by subtractive hybridization of cDNAs expressed in atherosclerotic plaques with a thrombus, and was found to be expressed only in vascular smooth muscle cells. However, a shorter splice variant was found to be more ubiquitously expressed. This protein is suggested to play a role in the development of atherosclerosis. Studies in mice suggest that it may also function as a GC-rich promoter-specific trans-activating transcription factor. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]

GeneCards Summary for GPBP1 Gene

GPBP1 (GC-Rich Promoter Binding Protein 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity. An important paralog of this gene is GPBP1L1.

UniProtKB/Swiss-Prot Summary for GPBP1 Gene

  • Functions as a GC-rich promoter-specific transactivating transcription factor.

Gene Wiki entry for GPBP1 Gene

Additional gene information for GPBP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GPBP1 Gene

Genomics for GPBP1 Gene

GeneHancer (GH) Regulatory Elements for GPBP1 Gene

Promoters and enhancers for GPBP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GPBP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GPBP1

Top Transcription factor binding sites by QIAGEN in the GPBP1 gene promoter:
  • AML1a
  • E2F-1
  • GCNF
  • GCNF-1
  • GCNF-2
  • Lmo2
  • NF-kappaB
  • NF-kappaB1
  • RelA
  • RP58

Genomic Locations for GPBP1 Gene

Genomic Locations for GPBP1 Gene
chr5:57,173,849-57,264,679
(GRCh38/hg38)
Size:
90,831 bases
Orientation:
Plus strand
chr5:56,469,775-56,560,506
(GRCh37/hg19)
Size:
90,732 bases
Orientation:
Plus strand

Genomic View for GPBP1 Gene

Genes around GPBP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GPBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GPBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GPBP1 Gene

Proteins for GPBP1 Gene

  • Protein details for GPBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86WP2-GPBP1_HUMAN
    Recommended name:
    Vasculin
    Protein Accession:
    Q86WP2
    Secondary Accessions:
    • A6NKW3
    • Q6NSH6
    • Q9H0D4
    • Q9H785
    • Q9NSN4

    Protein attributes for GPBP1 Gene

    Size:
    473 amino acids
    Molecular mass:
    53339 Da
    Quaternary structure:
    • Interacts with GTF2B, GTF2F2, RNA polymerase II and TBP.
    SequenceCaution:
    • Sequence=AAH00267.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH70132.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305}; Sequence=BAB15013.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for GPBP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GPBP1 Gene

Post-translational modifications for GPBP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GPBP1 Gene

Domains & Families for GPBP1 Gene

Gene Families for GPBP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GPBP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GPBP1 Gene

GenScript: Design optimal peptide antigens:
  • Vascular wall-linked protein (GPBP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86WP2

UniProtKB/Swiss-Prot:

GPBP1_HUMAN :
  • Belongs to the vasculin family.
Family:
  • Belongs to the vasculin family.
genes like me logo Genes that share domains with GPBP1: view

Function for GPBP1 Gene

Molecular function for GPBP1 Gene

UniProtKB/Swiss-Prot Function:
Functions as a GC-rich promoter-specific transactivating transcription factor.

Phenotypes From GWAS Catalog for GPBP1 Gene

Gene Ontology (GO) - Molecular Function for GPBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity IBA 21873635
GO:0005515 protein binding IPI 19060904
genes like me logo Genes that share ontologies with GPBP1: view
genes like me logo Genes that share phenotypes with GPBP1: view

Animal Models for GPBP1 Gene

MGI Knock Outs for GPBP1:
  • Gpbp1 Gpbp1<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for GPBP1 Gene

miRTarBase miRNAs that target GPBP1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GPBP1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GPBP1 Gene

Localization for GPBP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GPBP1 Gene

Nucleus. Cytoplasm. Note=According to PubMed:12842993, it localizes to the cytoplasm. {ECO:0000269 PubMed:12842993}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GPBP1 gene
Compartment Confidence
plasma membrane 4
nucleus 4
cytosol 4
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GPBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with GPBP1: view

Pathways & Interactions for GPBP1 Gene

PathCards logo

SuperPathways for GPBP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GPBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IBA 21873635
GO:0045893 positive regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with GPBP1: view

No data available for Pathways by source and SIGNOR curated interactions for GPBP1 Gene

Drugs & Compounds for GPBP1 Gene

No Compound Related Data Available

Transcripts for GPBP1 Gene

mRNA/cDNA for GPBP1 Gene

5 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GPBP1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GPBP1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b
SP1: - - -
SP2: - -
SP3: -
SP4: - -
SP5:
SP6:
SP7: - -
SP8: -
SP9:

Relevant External Links for GPBP1 Gene

GeneLoc Exon Structure for
GPBP1

Expression for GPBP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GPBP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GPBP1 Gene

This gene is overexpressed in Pancreatic juice (34.1) and Heart (27.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GPBP1 Gene



Protein tissue co-expression partners for GPBP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GPBP1

SOURCE GeneReport for Unigene cluster for GPBP1 Gene:

Hs.444279

mRNA Expression by UniProt/SwissProt for GPBP1 Gene:

Q86WP2-GPBP1_HUMAN
Tissue specificity: Widely expressed. Some isoforms may be specifically expressed in veins and arteries (at protein level). Isoform 4 is widely expressed. Isoform 1, isoform 2 and isoform 3 may be specifically expressed in vascular smooth muscle cells.

Evidence on tissue expression from TISSUES for GPBP1 Gene

  • Nervous system(4.9)
  • Muscle(4.4)
  • Lung(2.9)
  • Stomach(2.9)
genes like me logo Genes that share expression patterns with GPBP1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for GPBP1 Gene

Orthologs for GPBP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GPBP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GPBP1 31 30
  • 99.72 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GPBP1 31 30
  • 95.19 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GPBP1 31 30
  • 94.75 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gpbp1 30
  • 93.29 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 93 (a)
OneToMany
-- 31
  • 78 (a)
OneToMany
-- 31
  • 76 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Gpbp1 17 31 30
  • 92.78 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GPBP1 31
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves GPBP1 31 30
  • 81.72 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GPBP1 31
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gpbp1 30
  • 63.98 (n)
Str.1065 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.10420 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7253 30
Species where no ortholog for GPBP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for GPBP1 Gene

ENSEMBL:
Gene Tree for GPBP1 (if available)
TreeFam:
Gene Tree for GPBP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GPBP1: view image

Paralogs for GPBP1 Gene

Paralogs for GPBP1 Gene

(1) SIMAP similar genes for GPBP1 Gene using alignment to 3 proteins:

  • GPBP1_HUMAN
  • D4PHA4_HUMAN
  • F5GY92_HUMAN

Pseudogenes.org Pseudogenes for GPBP1 Gene

genes like me logo Genes that share paralogs with GPBP1: view

Variants for GPBP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GPBP1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs1862171 - p.Arg122Gly

Additional dbSNP identifiers (rs#s) for GPBP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for GPBP1 Gene

Variant ID Type Subtype PubMed ID
esv2481248 CNV insertion 19546169
esv2730203 CNV deletion 23290073
esv2730204 CNV deletion 23290073
esv2730205 CNV deletion 23290073
esv3331523 CNV duplication 20981092
esv3565947 CNV deletion 23714750
esv3605133 CNV loss 21293372
esv3894192 CNV loss 25118596
nsv4837 CNV insertion 18451855
nsv930486 CNV insertion 23359205

Variation tolerance for GPBP1 Gene

Residual Variation Intolerance Score: 43% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.68; 32.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GPBP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GPBP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GPBP1 Gene

Disorders for GPBP1 Gene

Additional Disease Information for GPBP1

No disorders were found for GPBP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GPBP1 Gene

Publications for GPBP1 Gene

  1. Vasculin, a novel vascular protein differentially expressed in human atherogenesis. (PMID: 12842993) Bijnens AP … Cleutjens KB (Blood 2003) 2 3 4 23 54
  2. The murine G+C-rich promoter binding protein mGPBP is required for promoter-specific transcription. (PMID: 14612417) Hsu LC … Yeung CY (Molecular and cellular biology 2003) 3 4 54
  3. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 3 4 54
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  5. The human cytoplasmic dynein interactome reveals novel activators of motility. (PMID: 28718761) Redwine WB … Reck-Peterson SL (eLife 2017) 3 54

Products for GPBP1 Gene

Sources for GPBP1 Gene