GNB1L - G protein subunit beta 1 like Gene

中文名称：G 蛋白亚基β1 样

种属: Homo sapiens

同用名: GY2; FKSG1; WDR14; WDVCF; DGCRK3

基因 ID: 54584 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 G 蛋白 β 亚基样多肽，它是 WD 重复蛋白家族的成员。 WD 重复是大约 40 个氨基酸的最小保守区域，通常由 gly-his 和 trp-asp (GH-WD) 括起来，这可能有助于异源三聚体或多蛋白复合物的形成。该家族的成员参与多种细胞过程，包括细胞周期进程、信号转导、细胞凋亡和基因调控。这种蛋白质含有 6 个 WD 重复序列，在心脏中高度表达。该基因映射到染色体 22q11 上的区域，该区域在 DiGeorge 综合征中缺失，在派生 22 综合征中为三体，在猫眼综合征中为四体。因此，该基因可能与这些疾病的病因有关。该基因的转录本与 C22orf29 基因的一些转录本共享外显子。[RefSeq 提供，2008 年 7 月]

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 基因产物(1)

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

基因本体论

生物过程
细胞组分

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in DNA damage checkpoint signaling	IMP IMP: 通过突变表型推断	37541219	GOA
involved in DNA damage response	IMP IMP: 通过突变表型推断	37541219	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasm	IDA IDA: 通过直接分析推断	37541219	GOA
located in nucleus	IDA IDA: 通过直接分析推断	37541219	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

GNB1L 蛋白结构

WD40

0
100
200
300
327 a.a.

蛋白主名

其他名称

guanine nucleotide-binding protein subunit beta-like protein 1

G-protein beta subunit-like protein

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS05546	GNB1L Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

GNB1L - G protein subunit beta 1 like Gene

关于 GNB1L

功能概要

GNB1L 基因产物(1)

GNB1L 蛋白结构

关联疾病

直系同源

热门区域

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GNB1L - G protein subunit beta 1 like Gene

关于 GNB1L

功能概要

GNB1L 基因产物(1)

GNB1L 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z