1. Gene
  2. PARN - poly(A)-specific ribonuclease Gene

PARN - poly(A)-specific ribonuclease Gene

中文名称:聚 (A) 特异性核糖核酸酶

种属: Homo sapiens

同用名: DAN; DKCB6; PFBMFT4

基因 ID: 5073 | 基因类型: protein coding

关于 PARN

Cytogenetic location: 16p13.12 Genomic coordinates (GRCh38): 16:14,435,701-14,630,260 (from NCBI)

This gene has 39 transcripts (splice variants), 1 gene allele, 201 orthologues, 2 paralogues and is associated with 6 phenotypes. Ubiquitous expression in thyroid (RPKM 11.4), testis (RPKM 9.5) and 25 other tissues.

功能概要

该基因编码的蛋白质是一种 3'-外切核糖核酸酶,与 3'-外切核酸酶的 RNase D 家族相似。它更倾向于 poly (A) 作为底物,因此可以有效地降解 mRNA 的 poly (A) 尾巴。 poly (A) 尾的核酸外切降解通常是真核 mRNA 降解的第一步。这种蛋白质还参与卵母细胞成熟和早期胚胎发育过程中某些母体 mRNA 的沉默,以及包含过早终止密码子的 mRNA 的无义介导衰变 (NMD) 。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2008 年 8 月]

The protein encoded by this gene is a 3'-exoribonuclease, with similarity to the RNase D family of 3'-exonucleases. It prefers poly(A) as the substrate, hence, efficiently degrades poly(A) tails of mRNAs. Exonucleolytic degradation of the poly(A) tail is often the first step in the decay of eukaryotic mRNAs. This protein is also involved in silencing of certain maternal mRNAs during oocyte maturation and early embryonic development, as well as in nonsense-mediated decay (NMD) of mRNAs that contain premature stop codons. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

PARN 基因产物(3)

mRNA Protein Name
NM_001134477.3 NP_001127949.1 poly(A)-specific ribonuclease PARN isoform 2
NM_001242992.2 NP_001229921.1 poly(A)-specific ribonuclease PARN isoform 3
NM_002582.4 NP_002573.1 poly(A)-specific ribonuclease PARN isoform 1

PARN 蛋白结构

CAF1

CAF1: CAF1 family ribonuclease (1 - 391)

RNA_bind

RNA_bind: RNA binding domain (437 - 523)

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  • 500
  • 600
  • 639 a.a.
蛋白主名 其他名称

poly(A)-specific ribonuclease PARN

deadenylating nuclease

关联疾病

疾病名称 别名
Dyskeratosis Congenita, Autosomal Recessive 6

DKCB6

Autosomal Recessive Dyskeratosis Congenita 6

Dyskeratosis Congenita, Autosomal Recessive, 6

Dyskeratosis Congenita, Autosomal Recessive, Type 6

Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 4

PFBMFT4

Pulmonary Fibrosis, And/Or Bone Marrow Failure, Telomere-Related, 4

Fibrosis, Pulmonary, And/Or Bone Marrow Failure, Telomere-Related, Type 4

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

Hoyeraal Hreidarsson Syndrome

Hoyeraal-Hreidarsson Syndrome

Progressive Pancytopenia-Immunodeficiency-Cerebellar Hypoplasia Syndrome

Cerebellar Hypoplasia With Pancytopenia

Growth Retardation Prenatal With Progressive Pancytopenia And Cerebellar Hypoplasia

Pulmonary Fibrosis

Fibrosis Of Lung

Interstitial Lung Disease 2

Idiopathic Pulmonary Fibrosis

Ipf

Fibrocystic Pulmonary Dysplasia

Pulmonary Fibrosis, Idiopathic

Pulmonary Fibrosis, Idiopathic, Susceptibility To

Cryptogenic Fibrosing Alveolitis

ILD2

Idiopathic Pulmonary Fibrosis, Familial

Fibrosing Alveolitis, Cryptogenic

Uip

Fibrosing Alveolitis

Interstitial Pneumonitis, Usual

Familial Idiopathic Pulmonary Fibrosis

Idiopathic Fibrosing Alveolitis, Chronic Form

Usual Interstitial Pneumonia

Fibrosing Alveolitis Cryptogenic

Hamman-Rich Disease

Idiopathic Pulmonary Fibrosis Familial

Interstitial Pneumonitis Usual

Fibrosis Idiopathic Pulmonary

Fibrosis, Pulmonary, Idiopathic

Hamman-Rich Syndrome

Chronic Idiopathic Pulmonary Fibrosis

Acute Interstitial Pneumonia

Interstitial Pulmonary Fibrosis

Ipf - [Idiopathic Pulmonary Fibrosis]

Idiopathic Lung Fibrosis

Fibrosing Lung Disease

Pulmonary Fibrosis Nos

Fibrosing Pneumonitis

Rheumatoid Arthritis Interstitial Lung Disease

Rheumatoid Lung

Dyskeratosis Congenita Autosomal Recessive

Autosomal Recessive Dyskeratosis Congenita

Dkcb

Dyskeratosis Congenita, Autosomal Recessive

Pontocerebellar Hypoplasia, Type 7

Pontocerebellar Hypoplasia Type 7

PCH7

Pontocerebellar Hypoplasia-46,Xy Disorder Of Sex Development Syndrome

Pontocerebellar Hypoplasia 7

Hypoplasia, Pontocerebellar, Type 7

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

Revesz Syndrome

Exudative Retinopathy With Bone Marrow Failure

DKCA5

Dyskeratosis Congenita, Autosomal Dominant 5

Dyskeratosis Congenita With Bilateral Exudative Retinopathy

Retinopathy-Anemia-Central Nervous System Anomalies Syndrome

Revesz-Debuse Syndrome

Dyskeratosis Congenita, Autosomal Dominant, 5

Revesz Debuse Syndrome

Idiopathic Interstitial Pneumonia

Hamman-Rich Syndrome

Diffuse Idiopathic Pulmonary Fibrosis

Idiopathic Fibrosing Alveolitis

Ipf

Idiopathic Interstitial Pneumonias

Idiopathic Interstitial Pneumonia, Not Otherwise Specified

Pulmonary Fibrosis

Nonspecific Interstitial Pneumonia

Nsip

Non-Specific Interstitial Pneumonia

Non-Specific Idiopathic Interstitial Pneumonia

Non-Specific Interstitial Pneumonia Nos

Myelodysplastic Syndrome

Myelodysplastic Syndromes

Myelodysplasia

MDS

Myelodysplastic Syndrome Included

Myelodysplastic Syndrome, Susceptibility To, Included

Myelodysplastic Syndrome, Somatic

Myelodysplastic Syndrome, Susceptibility To

Coats Disease

Exudative Retinopathy

Retinal Telangiectasis

Coats' Disease

Leber Miliary Aneurysm

Coats' Syndrome

Congenital Retinal Telangiectasia

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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta PARN VGNC VGNC:99534
Mus musculus PARN MGD MGI:1921358
Felis catus PARN VGNC VGNC:107806
Rattus norvegicus PARN RGD RGD:1565449
Canis familiaris PARN VGNC VGNC:53535