GAR1 - GAR1 ribonucleoprotein Gene

中文名称：GAR1 核糖核蛋白

种属: Homo sapiens

同用名: NOLA1

基因 ID: 54433 | 基因类型: protein coding

关于 GAR1

Cytogenetic location: 4q25 Genomic coordinates (GRCh38): 4:109,815,510-109,824,737 (from NCBI)

This gene has 4 transcripts (splice variants) and 200 orthologues. Ubiquitous expression in colon (RPKM 10.2), bone marrow (RPKM 9.6) and 25 other tissues.

功能概要

该基因是 H/ACA snoRNPs (小核仁核糖核蛋白) 基因家族的成员。 snoRNPs 涉及 rRNA 加工和修饰的各个方面，并分为两个家族：C/D 和 H/ACA。 H/ACA snoRNPs 还包括 DKC1、NOLA2 和 NOLA3 蛋白。这四种 H/ACA snoRNP 蛋白定位于核仁的致密纤维状成分和细胞核中的盘绕 (Cajal) 体。如果四种蛋白质中的任何一种被耗尽，18S rRNA 的产生和 rRNA 假尿苷化都会受损。这四种 H/ACA snoRNP 蛋白也是端粒酶复合物的组成部分。该基因编码的蛋白质包含两个富含甘氨酸和精氨酸的结构域，并且与酿酒酵母 Gar1p 相关。已发现该基因的两个剪接变体。[RefSeq 提供，2008 年 7 月]

This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA2 and NOLA3 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. These four H/ACA snoRNP proteins are also components of the Telomerase complex. The encoded protein of this gene contains two glycine- and arginine-rich domains and is related to Saccharomyces cerevisiae Gar1p. Two splice variants have been found for this gene. [provided by RefSeq, Jul 2008]

GAR1 基因产物(2)

mRNA	Protein	Name
NM_018983.4	NP_061856.1	H/ACA ribonucleoprotein complex subunit 1
NM_032993.2	NP_127460.1	H/ACA ribonucleoprotein complex subunit 1

GAR1 蛋白结构

Gar1

0
100
200
217 a.a.

蛋白主名

其他名称

H/ACA ribonucleoprotein complex subunit 1

GAR1 homolog, ribonucleoprotein

关联疾病

疾病名称

别名

Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant	Dc
Dkc	Zinsser-Engman-Cole Syndrome
Dyskeratosis Congenita, Autosomal Dominant	Autosomal Dominant Dyskeratosis Congenita
Dkca	Dyskeratosis Congenita Scoggins Type
Zinsser-Cole-Engman Syndrome	X-Linked Dyskeratosis Congenita
Hoyeraal-Hreidarsson Syndrome

Spinal Muscular Atrophy

Sma	5q Sma
Proximal Sma	Sma-Associated Sma
Spinal Amyotrophies	Spinal Amyotrophy
Spinal Muscle Degeneration	Spinal Muscle Wasting
Muscular Atrophy Spinal	Atrophy, Muscular, Spinal
Hereditary Motor Neuronopathy	Progressive Muscular Atrophy
Sma - [Spinal Muscular Atrophy]

Fanconi Anemia, Complementation Group Q

Fanconi Anemia Complementation Group Q

FANCQ

Aplastic Anemia

Aplastic Anemia, Susceptibility To	Anemia Aplastic
Idiopathic Aplastic Anemia	Secondary Aplastic Anemia
Idiopathic Bone Marrow Failure	Aplastic Anemia Idiopathic
AA	Anemia, Aplastic
Aplastic Anemia, Idiopathic	Erythroid Aplasia
Aa - [Aplastic Anaemia]	Haematopoietic Aplasia
Aleukia Haemorrhagica	Anaemia Due To Decreased Red Cell Production
Aplasia Bone Marrow	Aplastic Bone Marrow
Hypoplastic Anaemia Nos	Myeloid Bone Marrow Aplasia
Pancytopenia	Panhaematopenia
Hypoproliferative Anaemia	Medullary Hypoplasia
Red Blood Cells Hypoplastic Anaemia	Panmyelophthisis
Panhemocytopenia	Refractive Hypoproliferative Anaemia
Toxic Anaemia	Toxic Aplastic Anaemia
Aplastic Anaemia Due To Toxic Cause	Idiopathic Aplastic Anaemia Nos

Diamond-Blackfan Anemia

Congenital Pure Red Cell Aplasia	Aase Syndrome
Erythrogenesis Imperfecta	Anemia, Diamond-Blackfan
Congenital Hypoplastic Anemia	Aase-Smith Ii Syndrome
Bds	Blackfan-Diamond Anemia
Congenital Prca	Congenital Hypoplastic Anemia, Blackfan-Diamond Type
Dba	Blackfan - Diamond Syndrome
Chronic Constitutional Pure Red Cell Anaemia	Anemia Diamond Blackfan Type
Anemia Congenital Erythroid Hypoplastic	Aregenerative Anemia Chronic Congenital
Blackfan Diamond Syndrome	Red Cell Aplasia, Pure Hereditary
Aase-Smith Syndrome Ii	Bda
Blackfan Diamond Anemia	Blackfan-Diamond Disease
Blackfan-Diamond Syndrome	Chronic Congenital Agenerative Anemia
Congenital Erythroid Hypoplastic Anemia	Congenital Hypoplastic Anemia Of Blackfan And Diamond
Congenital Pure Red Cell Anemia	Hypoplastic Congenital Anemia
Inherited Erythroblastopenia	Pure Hereditary Red Cell Aplasia
Anemia, Hypoplastic, Congenital	Anemia Hypoplastic Congenital
Fanconi Anemia	Constitutional Aplastic Anemia
Diamond-Blackfan Anemia 1	Aase Smith Syndrome 2
Congenital Red Cell Aplasia	Red Cell Aplasia Of Infants
Pure Red Cell Aplasia Of Infants	Congenital Red Cell Aplastic Anaemia
Congenital Pure Red Cell Anaemia	Congenital Erythroid Hypoplasia
Pearson Marrow-Pancreas Syndrome

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-RS05277	GAR1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS05279	GARS1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	GAR1	VGNC	VGNC:57406
Mus musculus	GAR1	MGD	MGI:1930948
Rattus norvegicus	GAR1	RGD	RGD:1563995
Macaca mulatta	GAR1	VGNC	VGNC:100230
Bos taurus	GAR1	VGNC	VGNC:29251

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