1. Gene
  2. SNU13 - small nuclear ribonucleoprotein 13 Gene

SNU13 - small nuclear ribonucleoprotein 13 Gene

中文名称:小核核糖核蛋白 13

种属: Homo sapiens

同用名: FA1; FA-1; NHPX; 15.5K; OTK27; SSFA1; NHP2L1; SPAG12; SNRNP15-5

基因 ID: 4809 | 基因类型: protein coding

关于 SNU13

Cytogenetic location: 22q13.2 Genomic coordinates (GRCh38): 22:41,673,933-41,690,480 (from NCBI)

This gene has 12 transcripts (splice variants) and 211 orthologues. Ubiquitous expression in brain (RPKM 32.6), adrenal (RPKM 31.2) and 25 other tissues.

功能概要

最初因其与酿酒酵母 NHP2 (非组蛋白蛋白 2) 的序列相似性而得名,该蛋白似乎是一种高度保守的核蛋白,是 [U4/U6.U5] 三 snRNP 的一个组成部分。它与 U4 snRNA 的 5' 茎环结合。已发现该基因编码相同蛋白质的两个转录变体。[RefSeq 提供,2008 年 7 月]

Originally named because of its sequence similarity to the Saccharomyces cerevisiae NHP2 (non-histone protein 2), this protein appears to be a highly conserved nuclear protein that is a component of the [U4/U6.U5] tri-snRNP. It binds to the 5' stem-loop of U4 snRNA. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

SNU13 基因产物(2)

mRNA Protein Name
NM_001003796.2 NP_001003796.1 NHP2-like protein 1
NM_005008.4 NP_004999.1 NHP2-like protein 1

SNU13 蛋白结构

Ribosomal_L7Ae

Ribosomal_L7Ae: Ribosomal protein L7Ae/L30e/S12e/Gadd45 family (21 - 111)

  • 0
  • 100
  • 128 a.a.
蛋白主名 其他名称

NHP2-like protein 1

NHP2 non-histone chromosome protein 2-like 1

重组 SNU13 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71161 NHP2L1 Protein, Human (His) P55769 (M1-V128) ≥95%

关联疾病

疾病名称 别名
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

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

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

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 SNU13 VGNC VGNC:98450
Mus musculus SNU13 MGD MGI:893586
Rattus norvegicus SNU13 RGD RGD:1303103
Bos taurus SNU13 VGNC VGNC:35087
Others SNU13 NCBI