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

Also Known as RNP; CPHD7; IGHD5; RBM40; SNRNP65

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55599

About 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.

Summary

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 Products (1)

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

Gene Ontology

Cellular Component

Cellular Component GO Annotation	Evidence	References	Source
part of U12-type spliceosomal complex	IDA IDA: Inferred from direct assay	15146077	GOA
located in nucleus	IDA IDA: Inferred from direct assay	18559850	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RNPC3 Protein Structure

RRM_1

0
100
200
300
400
517 a.a.

Protein Preferred Names	Protein Names
RNA-binding region-containing protein 3	RNA-binding motif protein 40

Related Diseases

Diseases	Alias
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

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12103	RNPC3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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