UTP4 - UTP4 small subunit processome component Gene

Also Known as NAIC; CIRH1A; CIRHIN; TEX292

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84916

About UTP4

Cytogenetic location: 16q22.1 Genomic coordinates (GRCh38): 16:69,132,649-69,169,021 (from NCBI)

This gene has 16 transcripts (splice variants), 1 gene allele, 205 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in kidney (RPKM 22.9), testis (RPKM 21.3) and 25 other tissues.

Summary

This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to periportal fibrosis and cirrhosis in childhood and adolescence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

UTP4 Products (2)

mRNA	Protein	Name
NM_001318391.2	NP_001305320.1	U3 small nucleolar RNA-associated protein 4 homolog isoform 2
NM_032830.3	NP_116219.2	U3 small nucleolar RNA-associated protein 4 homolog isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19732766	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in maturation of SSU-rRNA	IMP IMP: Inferred from mutant phenotype	22916032	GOA
involved in regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	19732766	GOA
involved in ribosomal small subunit biogenesis	IDA IDA: Inferred from direct assay	34516797	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in chromosome	IDA IDA: Inferred from direct assay	20813266	GOA
located in fibrillar center	IDA IDA: Inferred from direct assay	24219289	GOA
located in nucleolus	IDA IDA: Inferred from direct assay	16225863	GOA
part of small-subunit processome	IDA IDA: Inferred from direct assay	34516797	GOA
part of t-UTP complex	IDA IDA: Inferred from direct assay	22916032	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

UTP4 Protein Structure

WD40

0
200
400
600
686 a.a.

Protein Preferred Names	Protein Names
U3 small nucleolar RNA-associated protein 4 homolog	UTP4 small subunit (SSU) processome component

UTP4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	UTP4	Q969X6	UTP15	Homo sapiens	Q8TED0	Pull Down	24219289
Intra	UTP4	Q969X6	UTP15	Homo sapiens	Q8TED0	Anti Tag CoIP	33961781
Intra	UTP4	Q969X6	UTP15	Homo sapiens	Q8TED0	TAP	22916032
Intra	UTP4	Q969X6	UTP15	Homo sapiens	Q8TED0	Anti Tag CoIP	28514442
Intra	UTP4	Q969X6	WDR43	Homo sapiens	Q15061	Pull Down	24219289
Intra	UTP4	Q969X6	WDR43	Homo sapiens	Q15061	Anti Tag CoIP	33961781
Intra	UTP4	Q969X6	WDR43	Homo sapiens	Q15061	TAP	22916032
Intra	UTP4	Q969X6	WDR43	Homo sapiens	Q15061	Anti Tag CoIP	28514442
Intra	UTP4	Q969X6	WDR43	Homo sapiens	Q15061	Anti Tag CoIP	35271311
Intra	UTP4	Q969X6	HIVEP1	Homo sapiens	P15822	Anti Tag CoIP	19732766
Intra	UTP4	Q969X6	NOL11	Homo sapiens	Q9H8H0	Y2H	22916032
Intra	UTP4	Q969X6	NOL11	Homo sapiens	Q9H8H0	Anti Tag CoIP	35271311
Intra	UTP4	Q969X6	NOL11	Homo sapiens	Q9H8H0	TAP	22916032
Intra	UTP4	Q969X6	NOL11	Homo sapiens	Q9H8H0	Anti Tag CoIP	28514442
Intra	UTP4	Q969X6	NOL11	Homo sapiens	Q9H8H0	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
North American Indian Childhood Cirrhosis	NAIC Hereditary North American Indian Childhood Cirrhosis Cirrhosis, North American Indian Childhood Type Cirrhosis, Childhood, North American Indian
Intrahepatic Cholestasis	Cholestasis, Intrahepatic Neonatal Intrahepatic Cholestasis Cholestasis Intrahepatic Cholestasis Of Pregnancy
Neonatal Jaundice	Neonatal Hyperbilirubinemia Neonatal Icterus Jaundice Neonatal Jaundice, Neonatal Hyperbilirubinemia, Neonatal
Bowen-Conradi Syndrome	BWCNS Bowen Hutterite Syndrome Bowen-Conradi Hutterite Syndrome Bowen Syndrome, Hutterite Type Bowen Hutterite Syndrome, Formerly Hutterite Syndrome Bowen Syndrome Hutterite Type Fetal Growth Retardation
Cholestasis-Lymphedema Syndrome	Aagenaes Syndrome Chls Lcs Cholestasis-Edema Syndrome, Norwegian Type Lymphedema-Cholestasis Syndrome Cholestasis Lymphedema Syndrome Lcs1 Lymphedema Cholestasis Syndrome
Cholestasis	Obstruction Of Bile Duct Bile Duct Obstruction Bile Occlusion Extrahepatic Biliary Obstruction Extrahepatic Bile Duct Obstruction Bile Stasis Biliary Stasis Obstructive Hyperbilirubinemia Obstructed Jaundice Bile Duct Obstructed Bile Ductal Obstruction Biliary Duct Obstruction Obstructed Bile Ductal Obstructed Biliary Duct Obstructed Biliary Ductal Jaundice Regurgitation Obstructive Jaundice Cholestatic Jaundice Cholestatic Jaundice Syndrome
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Ane Syndrome ANES Alopecia-Progressive Neurological Defect-Endocrinopathy Syndrome Alopecia-Progressive Neurological Defect-Endocrinopathy Endocrine System Diseases
Anauxetic Dysplasia 1	Anauxetic Dysplasia Spondylometaepiphyseal Dysplasia, Menger Type Spondylometaepiphyseal Dysplasia, Anauxetic Type Spondyloepimetaphyseal Dysplasia, Anauxetic Type ANXD1 Anxd Spondylometaepiphyseal Dysplasia Anauxetic Type Spondylometaepiphyseal Dysplasia Menger Type Ad Spondyloepimetaphyseal Dysplasia, Menger Type Dysplasia, Anauxetic, Type 1
Shwachman-Diamond Syndrome 1	Shwachman-Diamond Syndrome Shwachman Syndrome Shwachman-Bodian-Diamond Syndrome Sds Pancreatic Insufficiency And Bone Marrow Dysfunction Shwachman-Bodian Syndrome SDS1 Lipomatosis Of Pancreas, Congenital Congenital Lipomatosis Of Pancreas Shwachman-Diamond Type Metaphyseal Dysplasia Metaphyseal Chondrodysplasia, Shwachman Type Shwachman-Diamond-Oski Syndrome
Treacher Collins Syndrome 1	Treacher Collins Syndrome Mandibulofacial Dysostosis Treacher Collins-Franceschetti Syndrome Tcof Tcs Mfd1 Franceschetti-Klein Syndrome TCS1 Franceschetti Syndrome Franceschetti-Zwahlen-Klein Syndrome Zygoauromandibular Dysplasia Treacher-Collins Syndrome Mandibulofacial Dysostosis Without Limb Anomalies Bilateral And Symmetric Oto-Mandibular Dysplasia
Cartilage-Hair Hypoplasia	Metaphyseal Chondrodysplasia, Mckusick Type CHH Mckusick Type Metaphyseal Chondrodysplasia Metaphyseal Dysplasia Without Hypotrichosis Cartilage Hair Hypoplasia Like Syndrome Metaphyseal Chondrodysplasia Mckusick Type Chhv Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency Cartilage-Hair Syndrome Mckusick'S Metaphyseal Chondrodysplasia Syndrome Metaphyseal Chondrodysplasia, Recessive Type Autosomal Recessive Metaphyseal Chondrodysplasia
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
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

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15580	UTP4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-146247	4'-Fluorouridine triphosphate		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	UTP4	MGD	MGI:1096573
Macaca mulatta	UTP4	VGNC	VGNC:79204
Canis familiaris	UTP4	VGNC	VGNC:97228
Bos taurus	UTP4	VGNC	VGNC:36747
Rattus norvegicus	UTP4	RGD	RGD:1311341
Felis catus	UTP4	VGNC	VGNC:66907
Others	UTP4	NCBI