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  2. GPBP1 - GC-rich promoter binding protein 1 Gene

GPBP1 - GC-rich promoter binding protein 1 Gene

Homo sapiens

Also known as GPBP; SSH6; VASCULIN

Gene ID: 65056 | Gene type: protein coding

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

GPBP1 Protein Structure

Vasculin

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

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  • 473 a.a.
Protein Preferred Names Protein Names

vasculin

vascular wall-linked protein

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