Gene Gene information from NCBI Gene database.
Entrez ID 65056
Gene name GC-rich promoter binding protein 1
Gene symbol GPBP1
Synonyms (NCBI Gene)
GPBPSSH6VASCULIN
Chromosome 5
Chromosome location 5q11.2
Summary 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 ubiqui
miRNA miRNA information provided by mirtarbase database.
242
miRTarBase ID miRNA Experiments Reference
MIRT050359 hsa-miR-25-3p CLASH 23622248
MIRT044039 hsa-miR-365a-3p CLASH 23622248
MIRT041884 hsa-miR-484 CLASH 23622248
MIRT720243 hsa-miR-216a-5p HITS-CLIP 19536157
MIRT720242 hsa-miR-126-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0003700 Function DNA-binding transcription factor activity IEA
GO:0003723 Function RNA binding IEA
GO:0005515 Function Protein binding IPI 19060904, 25416956, 29433439, 29892012, 31515488, 32296183
GO:0005634 Component Nucleus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608412 29520 ENSG00000062194
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86WP2
Protein name Vasculin (GC-rich promoter-binding protein 1) (Vascular wall-linked protein)
Protein function Functions as a GC-rich promoter-specific transactivating transcription factor.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15337 Vasculin 375 471 Vascular protein family Vasculin-like 1 Family
Tissue specificity 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. {E
Sequence
MAQHDFAPAWLNFPTPPSSTKSSLNFEKHSENFAWTENRYDVNRRRHNSSDGFDSAIGRP
NGGNFGRKEKNGWRTHGRNGTENINHRGGYHGGSSRSRSSIFHAGKSQGLHENNIPDNET
GRKEDKRERKQFEAEDFPSLNPEYEREPNHNKSLAAGVWEYPPNPKSRAPRMLVIKKGNT
KDLQLSGFPVVGNLPSQPVKNGTGPSVYKGLVPKPAAPPTKPTQWKSQTKENKVGTSFPH
ESTFGVGNFNAFKSTAKNFSPSTNSVKECNRSNSSSPVDKLNQQPRLTKLTRMRTDKKSE
FLKALKRDRVEEEHEDESRAGSEKDDDSFNLHNSNSTHQERDINRNFDENEIPQENGNAS
VISQQIIRSSTFPQTDVLSSSLEAEHRLLKEMGWQEDSENDETCAPLTEDEMREFQVISE
QLQKNGLRKNGILKNGLICDFKFGPWKNSTFKPTTENDDTETSSSDTSDDD
DV
Sequence length 473
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IDIOPATHIC OSTEONECROSIS OF THE FEMORAL HEAD GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
POSTERIOR CORTICAL ATROPHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Diabetes Mellitus Diabetes mellitus Pubtator 8363571 Associate
★☆☆☆☆
Found in Text Mining only
Insulin Resistance Diabetes mellitus, type 2 Pubtator 8363571 Associate
★☆☆☆☆
Found in Text Mining only