GPBP1 - GC-rich promoter binding protein 1 Gene

Also Known as GPBP; SSH6; VASCULIN

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 65056

About GPBP1

Cytogenetic location: 5q11.2 Genomic coordinates (GRCh38): 5:57,174,059-57,264,679 (from NCBI)

This gene has 9 transcripts (splice variants), 146 orthologues and 1 paralogue. Ubiquitous expression in testis (RPKM 33.9), ovary (RPKM 22.5) and 25 other tissues.

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 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]

GPBP1 Products (5)

mRNA Protein Name
NM_001127235.2 NP_001120707.2 vasculin isoform 3
NM_001127236.2 NP_001120708.1 vasculin isoform 2
NM_001203246.2 NP_001190175.1 vasculin isoform 4
NM_001331037.2 NP_001317966.1 vasculin isoform 5
NM_022913.4 NP_075064.1 vasculin isoform 1
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
19060904 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GPBP1 Protein Structure

Vasculin

Vasculin: Vascular protein family Vasculin-like 1 (374 - 471)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 473 a.a.
Protein Preferred Names Protein Names

vasculin

  • vascular wall-linked protein

GPBP1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
GPBP1 Q86WP2 PRPF18 Homo sapiens Q99633 32296183
Intra
GPBP1 Q86WP2 MCRS1 Homo sapiens Q96EZ8 19060904
Intra
GPBP1 Q86WP2 MCRS1 Homo sapiens Q96EZ8 32296183
Intra
GPBP1 Q86WP2 MCRS1 Homo sapiens Q96EZ8 19060904
Intra
GPBP1 Q86WP2 NXF1 Homo sapiens Q9UBU9 32296183
Intra
GPBP1 Q86WP2 PLEKHF2 Homo sapiens Q9H8W4 25416956
Intra
GPBP1 Q86WP2 PLEKHF2 Homo sapiens Q9H8W4 25416956
Intra
GPBP1 Q86WP2 FNDC11 Homo sapiens Q9BVV2 32296183
Intra
GPBP1 Q86WP2 FNDC11 Homo sapiens Q9BVV2 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Epilepsy, Idiopathic Generalized 17
  • Febrile Seizures, Familial, 2

  • EIG17

  • Familial Febrile Seizures 2

  • FEB2

  • Epilepsy, Idiopathic Generalized, Susceptibility To, 17

  • Familial Febrile Convulsions 2

  • Convulsions, Familial Febrile, 2

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta GPBP1 VGNC VGNC:73033
Bos taurus GPBP1 VGNC VGNC:29522
Felis catus GPBP1 VGNC VGNC:62660
Rattus norvegicus GPBP1 RGD RGD:1305492
Mus musculus GPBP1 MGD MGI:1920524
Canis familiaris GPBP1 VGNC VGNC:41370
Others GPBP1 NCBI