1. Gene
  2. UTP4 - UTP4 small subunit processome component Gene

UTP4 - UTP4 small subunit processome component Gene

中文名称:UTP4 小亚基加工组组件

种属: Homo sapiens

同用名: NAIC; CIRH1A; CIRHIN; TEX292

基因 ID: 84916 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种位于核仁的含有 WD40 重复序列的蛋白质。该基因的突变会导致北美印第安儿童期肝硬化,这是一种严重的肝内胆汁淤积症,会导致短暂的新生儿黄疸,并在儿童期和青春期进展为门静脉周围纤维化和肝硬化。可变剪接导致多个转录本变体。[RefSeq 提供,2016 年 1 月]

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 基因产物(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

UTP4 蛋白结构

WD40

WD40: WD domain, G-beta repeat (99 - 128)

WD40

WD40: WD domain, G-beta repeat (145 - 166)

WD40

WD40: WD domain, G-beta repeat (281 - 308)

  • 0
  • 200
  • 400
  • 600
  • 686 a.a.
蛋白主名 其他名称

U3 small nucleolar RNA-associated protein 4 homolog

UTP4 small subunit (SSU) processome component

关联疾病

疾病名称 别名
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

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

直系同源

种属 基因名 来源 基因 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