RNPC3 - RNA binding region (RNP1, RRM) containing 3 Gene

中文名称：含 RNA 结合区 (RNP1, RRM) 3

种属: Homo sapiens

同用名: RNP; CPHD7; IGHD5; RBM40; SNRNP65

基因 ID: 55599 | 基因类型: protein coding

关于 RNPC3

Cytogenetic location: 1p21.1 Genomic coordinates (GRCh38): 1:103,525,699-103,555,239 (from NCBI)

This gene has 9 transcripts (splice variants), 198 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 16.8), endometrium (RPKM 15.6) and 25 other tissues.

功能概要

两种类型的剪接体催化前体 mRNA 的剪接。主要的 U2 型剪接体存在于所有真核生物中，并去除 U2 型内含子，U2 型内含子占前 mRNA 内含子的 99% 以上。在一些真核生物中发现了较小的 U12 型剪接体，它去除了 U12 型内含子，这种内含子很少见，并且具有明显的剪接一致信号。 U12 型剪接体由几个小核 RNA 和相关蛋白组成。该基因编码一个 65K 的蛋白质，它是 U12 型剪接体的一个组成部分。该蛋白质包含两个 RNA 识别基序 (RRM) ，表明它可能与小剪接体的一个小核 RNA 接触。[RefSeq 提供，2008 年 7 月]

Two types of spliceosomes catalyze splicing of pre-mRNAs. The major U2-type spliceosome is found in all eukaryotes and removes U2-type introns, which represent more than 99% of pre-mRNA introns. The minor U12-type spliceosome is found in some eukaryotes and removes U12-type introns, which are rare and have distinct splice consensus signals. The U12-type spliceosome consists of several small nuclear RNAs and associated proteins. This gene encodes a 65K protein that is a component of the U12-type spliceosome. This protein contains two RNA recognition motifs (RRMs), suggesting that it may contact one of the small nuclear RNAs of the minor spliceosome. [provided by RefSeq, Jul 2008]

RNPC3 基因产物(1)

mRNA	Protein	Name
NM_017619.4	NP_060089.1	RNA-binding region-containing protein 3

基因本体论

细胞组分

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of U12-type spliceosomal complex	IDA IDA: 通过直接分析推断	15146077	GOA
located in nucleus	IDA IDA: 通过直接分析推断	18559850	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

RNPC3 蛋白结构

RRM_1

0
100
200
300
400
517 a.a.

蛋白主名

其他名称

RNA-binding region-containing protein 3

RNA-binding motif protein 40

关联疾病

疾病名称

别名

Pituitary Hormone Deficiency, Combined Or Isolated, 7

Growth Hormone Deficiency, Isolated, Type V	Isolated Growth Hormone Deficiency, Type 5
CPHD7	Isolated Growth Hormone Deficiency, Type V, Formerly
Ighd5, Formerly	Growth Hormone Deficiency, Isolated, 5
IGHD5	Isolated Growth Hormone Deficiency, Type V

Growth Hormone Deficiency

Somatotropin Deficiency

Isolated Somatotropin Deficiency

Isolated Growth Hormone Deficiency, Type Ia

Ighd Ia	Primordial Dwarfism
Isolated Growth Hormone Deficiency Type Ia	Sexual Ateleiotic Dwarfism
Pituitary Dwarfism I	IGHD1A
Illig-Type Growth Hormone Deficiency	Growth Hormone Deficiency, Isolated, Type Ia
Congenital Ighd Type Ia	Congenital Isolated Gh Deficiency Type Ia
Congenital Isolated Growth Hormone Deficiency Type Ia	Pituitary Dwarfism 1
Growth Hormone Deficiency, Isolated, Autosomal Recessive	Autosomal Recessive Isolated Growth Hormone Deficiency
Isolated Growth Hormone Deficiency Type 1a	Congenital Ighd
Congenital Isolated Gh Deficiency	Congenital Isolated Growth Hormone Deficiency
Growth Hormone Deficiency, Isolated Autosomal Recessive	Illig Type Growth Hormone Deficiency
Non-Acquired Isolated Growth Hormone Deficiency	Growth Hormone Deficiency, Isolated, 1a
Growth Hormone Deficiency Isolated Autosomal Recessive	Dwarfism, Primordial
Dwarfism

Mixed Connective Tissue Disease

Sharp Syndrome	Mctd
Connective Tissue Disease Overlap Syndrome	Mixed Collagen Vascular Disease
Mctd - [Mixed Connective Tissue Disease]

Esophageal Leukoplakia

Leukoplakia Of Esophagus

Connective Tissue Disease

Connective Tissue Diseases	Connective Tissue Disorder
Abnormality Of Connective Tissue	Disorder Of Connective Tissue
Connective Tissue Disorders

Sjogren Syndrome

Sicca Syndrome	Sjogren'S Syndrome
Sjögren Syndrome	Sjogren-Gougerot Syndrome
Keratoconjunctivitis Sicca	Sjögren'S Syndrome
Xerodermosteosis	Dacryosialoadenopathia Atrophicans
Gougerot-Houwer-Sjogren Syndrome	Gougerot-Sjogren Syndrome
Keratoconjunctivitis Sicca-Xerostomia	Secreto-Inhibitor-Xerodermostenosis
Primary Sjogren Syndrome	Primary Sjogren-Gougerot Syndrome
Sjogrens Syndrome Primary	Sjogrens Syndrome
Dry Eye Syndromes

Hypopituitarism

Pituitary Hypofunction	Pituitary Insufficiency
Pituitary Hormone Deficiency	Subpituitarism
Hypophyseal Dystrophy	Hypohypophysism
Anterior Pituitary Insufficiency	Deficient Secretion Of One Or More Pituitary Hormones
Hypopituitarism Syndrome	Pituitary Deficiency
Pituitary Failure	Pituitary Insufficiency Nos
Anterior Pituitary Hypofunction	Deficient Secretion Of All Pituitary Hormones
Hypopituitary Dwarfism	Hyposomatotropic Dwarfism
Hypophyseal Dwarfism	Hypopituitary Cachexia
Hypophyseal Short Stature	Panhypopituitarism Syndrome
Pituitary Cachexia	Juvenile Hypopituitarism
Pituitary Dwarfism	Pituitary Gland Hypofunction
Primary Hypopituitarism	Secondary Hypogonadism
Prepubertal Panhypopituitarism	Prepubertal Dwarfism
Postpartum Panhypopituitary Syndrome	Postpartum Hypopituitarism
Pituitary Short Stature	Pituitary Infantilism
Pituitary Hypogonadism	Pituitary Hypoadrenocorticism

Myositis

Idiopathic Inflammatory Myopathy	Idiopathic Inflammatory Myositis
Iim	Imm
Idiopathic Inflammatory Myopathies	Myopathy, Familial Idiopathic Inflammatory
Inflammatory Disorder Of Muscle	Idiopathic Inflammatory Myopathy, Familial
Inflammatory Myopathy, Idiopathic	Myopathies Idiopathic Inflammatory
Familial Idiopathic Inflammatory Myopathy

Microcephalic Osteodysplastic Primordial Dwarfism, Type I

Taybi-Linder Syndrome	Brachymelic Primordial Dwarfism
Cephaloskeletal Dysplasia	Low-Birth-Weight Dwarfism With Skeletal Dysplasia
Microcephalic Osteodysplastic Primordial Dwarfism Type I	Osteodysplastic Primordial Dwarfism Type I
Primordial Microcephalic Dwarfism, Crachami Type	Osteodysplastic Primordial Dwarfism, Type 1
MOPD1	Mopd I
Mopd	Osteodysplastic Primordial Dwarfism, Type I
Tals	Microcephalic Osteodysplastic Primordial Dwarfism Type 1
Mopd 1	Microcephalic Osteodysplastic Primordial Dwarfism Types 1 And 3
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Mopd Types I And Iii
Microcephalic Osteodysplastic Primordial Dwarfism, Taybi-Linder Type	Primordial Microcephalic Dwarfism Crachami Type
Dwarfism, Primordial, Osteodysplastic, Microcephalic, Type 1

Pituitary Hypoplasia

Hypoplasia Of The Pituitary Gland

Cutaneous Lupus Erythematosus

Lupus Erythematosus, Cutaneous

Lupus Erythematosus Cutaneous

Raynaud Disease

Raynaud'S Disease	Raynaud Phenomenon
Raynaud'S Syndrome	Raynaud'S
Cold Fingers, Hereditary	Raynaud'S Phenomenon
Raynaud'S Disease/Phenomenon	Raynauds Syndrome
Raynauds Phenomenon	Secondary Raynaud'S Phenomenon
Raynaud Syndrome

Dyskinesia Of Esophagus

Esophageal Motility Disorders	Dyskinesia Of Oesophagus
Esophageal Dysmotility	Esophageal Motility Disorder
Oesophageal Dysmotility	Oesophageal Motor Disorder
Esophageal Spasm

Isolated Growth Hormone Deficiency

Congenital Ighd	Congenital Isolated Gh Deficiency
Congenital Isolated Growth Hormone Deficiency	Non-Acquired Isolated Growth Hormone Deficiency
Pituitary Dwarfism	Dwarfism, Pituitary
Isolated Somatotropin Deficiency	Isolated Congenital Growth Hormone Deficiency
Familial Isolated Growth Hormone Deficiency	Ighd
Dwarfism, Growth Hormone Deficiency	Growth Hormone Deficiency Dwarfism
Isolated Gh Deficiency	Isolated Hgh Deficiency
Isolated Human Growth Hormone Deficiency	Isolated Somatotropin Deficiency Disorder
Dwarfism Pituitary

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]

Crimean-Congo Hemorrhagic Fever

Crimean Hemorrhagic Fever	Cchf
Congo Hemorrhagic Fever	Hemorrhagic Fever, Crimean
Chf Congo Virus	Congo-Crimean Hemorrhagic Fever
Congo Fever	Hemorrhagic Fever Crimean-Congo
Cchf - [Crimean-Congo Haemorrhagic Fever]	Kara Mikh Typhoid Fever
Xīnjiāng Haemorrhagic Fever

Diffuse Scleroderma

Diffuse Systemic Sclerosis	Systemic Sclerosis, Diffuse
Scleroderma, Diffuse	Systemic Scleroderma
Progressive System Sclerosis

Systemic Lupus Erythematosus

Lupus Nephritis	SLE
Disseminated Lupus Erythematosus	Systemic Lupus Erythematosus, Susceptibility To
Lupus Erythematosus, Systemic	Lupus Nephritis, Susceptibility To
Libman-Sacks Disease	Systemic Lupus Erythematosus Susceptibility To
Sle - Lupus Erythematosus, Systemic	Le Syndrome
Lupus	Lupus Erythematosus Systemic
Lupus Erythematosus, Systemic, Susceptibility To	Lupus Vulgaris
Lupus Erythematosus, Discoid	Lupus Erythematosus
Systemic Lupus Erythematosus Nos	Sle - [Systemic Lupus Erythematosus]

Limited Scleroderma

Limited Cutaneous Systemic Sclerosis	Limited Systemic Sclerosis
Systemic Sclerosis Sine Scleroderma	Crest Syndrome
Limited Cutaneous Systemic Scleroderma	Scleroderma, Limited
Systemic Sclerosis, Limited	Progressive Systemic Sclerosis Sine Scleroderma
Scleroderma, Sine	Crest - [Calcinosis, Raynaud Phenomenon, Oesophageal Dysmotility, Sclerodactyly, And Telangiectasia] Syndrome
Crst - [Calcinosis, Raynaud Phenomenon, Sclerodactyly And Telangiectasia] Syndrome

Potocki-Lupski Syndrome

PTLS	Chromosome 17p11.2 Duplication Syndrome
17p11.2 Microduplication Syndrome	Duplication 17p11.2 Syndrome
Trisomy 17p11.2	Potocki-Lupski Syndrome (Dup(17)(P11.2p11.2))
17p11.2 Duplication Syndrome	Dup(17)(P11.2p11.2)
Pls	Chromosome 17, Trisomy 17p11 2

Primary Biliary Cholangitis

Primary Biliary Cirrhosis	Biliary Liver Cirrhosis
Chronic Nonsuppurative Destructive Cholangitis	Familial Primary Biliary Cirrhosis
Pbc	Hanot Syndrome
Cholestatic Cirrhosis	Biliary Cirrhosis Primary
Liver Cirrhosis, Biliary	Hanot'S Cirrhosis
Biliary Cirrhosis	Pericholangiolic Biliary Cirrhosis
Tannhauser-Magendantz Syndrome	Hanot-Rossle Syndrome
Hypertrophic Cirrhosis	Todd Cirrhosis
Hanot Cirrhosis	Charcot Cirrhosis
Mahon-Tannhauser Syndrome	Toxic Cirrhosis
Hypertrophic Biliary Cirrhosis	Monolobular Cirrhosis
Unilobar Cirrhosis	Xanthomatous Biliary Cirrhosis

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-RS12103	RNPC3 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	RNPC3	MGD	MGI:1914475
Rattus norvegicus	RNPC3	RGD	RGD:1582776
Felis catus	RNPC3	VGNC	VGNC:107614
Macaca mulatta	RNPC3	VGNC	VGNC:106489

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站点地图隐私声明

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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）

RNPC3 - RNA binding region (RNP1, RRM) containing 3 Gene

关于 RNPC3

功能概要

RNPC3 基因产物(1)

RNPC3 蛋白结构

关联疾病

直系同源

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RNPC3 - RNA binding region (RNP1, RRM) containing 3 Gene

关于 RNPC3

功能概要

RNPC3 基因产物(1)

RNPC3 蛋白结构

关联疾病

相关产品

直系同源

热门区域

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C

F

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