GNB1L - G protein subunit beta 1 like Gene

Homo sapiens

Also known as GY2; FKSG1; WDR14; WDVCF; DGCRK3

Gene ID: 54584 | Gene type: protein coding

About GNB1L

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:19,783,223-19,854,874 (from NCBI)

This gene has 6 transcripts (splice variants), 189 orthologues and 1 paralogue. Ubiquitous expression in spleen (RPKM 1.9), duodenum (RPKM 1.5) and 25 other tissues.

Summary

This gene encodes a G-protein beta-subunit-like polypeptide which is a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 Amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, Apoptosis, and gene regulation. This protein contains 6 WD repeats and is highly expressed in the heart. The gene maps to the region on chromosome 22q11, which is deleted in DiGeorge syndrome, trisomic in derivative 22 syndrome and tetrasomic in cat-eye syndrome. Therefore, this gene may contribute to the etiology of those disorders. Transcripts from this gene share exons with some transcripts from the C22orf29 gene. [provided by RefSeq, Jul 2008]

GNB1L Products(1)

mRNA	Protein	Name
NM_053004.3	NP_443730.1	guanine nucleotide-binding protein subunit beta-like protein 1

GNB1L Protein Structure

WD40

0
100
200
300
327 a.a.

Protein Preferred Names

Protein Names

guanine nucleotide-binding protein subunit beta-like protein 1

G-protein beta subunit-like protein

Related Diseases

Diseases

Alias

Digeorge Syndrome

Chromosome 22q11.2 Deletion Syndrome	DGS
Hypoplasia Of Thymus And Parathyroids	Third And Fourth Pharyngeal Pouch Syndrome
22q11.2 Deletion Syndrome	Digeorge Sequence
Digeorge'S Syndrome	Pharyngeal Pouch Syndrome
Di-George Syndrome	Shprintzen Syndrome

Epiglottis Neoplasm

Neoplasm Of Epiglottis	Epiglottic Tumor
Epiglottic Carcinoma

Cat Eye Syndrome

CES	Schmid-Fraccaro Syndrome
Chromosome 22 Partial Tetrasomy	Inv Dup(22)(Q11)
Cat-Eye Syndrome	Cess
Opitz Trigonocephaly Syndrome

Velocardiofacial Syndrome

Shprintzen Syndrome	VCFS
Chromosome 22q11.2 Deletion Syndrome	Vcf Syndrome
Shprintzen Vcf Syndrome	Vcf-Velocardiofacial Syndrome
Velo-Cardio-Facial Syndrome	Digeorge Syndrome
22q11 Deletion Syndrome	Conotruncal Anomaly Face Syndrome

Ureterocele

Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome	Autosomal Dominant Opitz G/Bbb Syndrome
Catch22	Cayler Cardiofacial Syndrome
Conotruncal Anomaly Face Syndrome	Digeorge Syndrome
Sedlackova Syndrome	Shprintzen Syndrome
Velocardiofacial Syndrome	22q11.2 Distal Deletion Syndrome
Distal 22q11.2 Microdeletion Syndrome	22q11.2ds
Vcfs	Velo-Cardio-Facial Syndrome
Distal Chromosome 22q11.2 Deletion Syndrome	Chromosome 22q11.2 Deletion Syndrome Distal
Chromosome 22q11.2 Deletion Syndrome	Deletion 22q11.2 Syndrome
22q11ds	Catch 22
Digeorge Sequence	Microdeletion 22q11.2
Monosomy 22q11	Takao Syndrome
Distal Del(22)(Q11.2)	Distal Monosomy 22q11.2
Catch 22 Syndrome	Chromosome Deletion Syndrome 22q11.2, Distal

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05546	GNB1L Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GNB1L	RGD	RGD:1594165
Felis catus	GNB1L	VGNC	VGNC:62620
Canis familiaris	GNB1L	VGNC	VGNC:41312
Bos taurus	GNB1L	VGNC	VGNC:29458
Mus musculus	GNB1L	MGD	MGI:1338057

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