1. Gene
  2. SNRPE - small nuclear ribonucleoprotein polypeptide E Gene

SNRPE - small nuclear ribonucleoprotein polypeptide E Gene

中文名称:小核核糖核蛋白多肽 E

种属: Homo sapiens

同用名: SME; Sm-E; HYPT11; snRNP-E

基因 ID: 6635 | 基因类型: protein coding

关于 SNRPE

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:203,861,599-203,871,152 (from NCBI)

This gene has 6 transcripts (splice variants), 178 orthologues and is associated with 3 phenotypes. Ubiquitous expression in colon (RPKM 16.8), ovary (RPKM 16.5) and 25 other tissues.

功能概要

该基因编码的蛋白质是 U 小核核糖核蛋白的核心成分,是 pre-mRNA 加工剪接体的关键成分。编码的蛋白质在组蛋白转录物的 3' 端加工中发挥作用。这种蛋白质是自身免疫性疾病系统性红斑狼疮的靶标之一,该基因的突变与少毛症有关。已经鉴定了该基因的几个假基因。[RefSeq 提供,2016 年 6 月]

The protein encoded by this gene is a core component of U small nuclear ribonucleoproteins, which are key components of the pre-mRNA processing spliceosome. The encoded protein plays a role in the 3' end processing of histone transcripts. This protein is one of the targets in the autoimmune disease systemic lupus erythematosus, and mutations in this gene have been associated with hypotrichosis. Several pseudogenes of this gene have been identified. [provided by RefSeq, Jun 2016]

SNRPE 基因产物(4)

mRNA Protein Name
NM_001304464.2 NP_001291393.1 small nuclear ribonucleoprotein E isoform 2
NM_001328637.2 NP_001315566.1 small nuclear ribonucleoprotein E isoform 3
NM_001328638.2 NP_001315567.1 small nuclear ribonucleoprotein E isoform 4
NM_003094.4 NP_003085.1 small nuclear ribonucleoprotein E isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
9417867 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mRNA splicing, via spliceosome IDA
IDA: 通过直接分析推断
28076346 GOA
involved in spliceosomal snRNP assembly IDA
IDA: 通过直接分析推断
18984161 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of SMN-Sm protein complex IDA
IDA: 通过直接分析推断
18984161 GOA
part of U1 snRNP IDA
IDA: 通过直接分析推断
21113136 GOA
part of U1 snRNP IPI
IPI: 通过物理相互作用推断
33677607 GOA
part of U12-type spliceosomal complex IDA
IDA: 通过直接分析推断
15146077 GOA
part of U2-type catalytic step 2 spliceosome IDA
IDA: 通过直接分析推断
28076346 GOA
part of U2-type precatalytic spliceosome IDA
IDA: 通过直接分析推断
28781166 GOA
part of U2-type spliceosomal complex IDA
IDA: 通过直接分析推断
32494006 GOA
part of U4 snRNP IDA
IDA: 通过直接分析推断
21516107 GOA
part of U4/U6 x U5 tri-snRNP complex IDA
IDA: 通过直接分析推断
26912367 GOA
part of U4/U6 x U5 tri-snRNP complex IPI
IPI: 通过物理相互作用推断
30975767 GOA
part of U7 snRNP IDA
IDA: 通过直接分析推断
11574479 GOA
part of catalytic step 2 spliceosome IDA
IDA: 通过直接分析推断
11991638 GOA
located in cytosol IDA
IDA: 通过直接分析推断
18984161 GOA
part of methylosome IDA
IDA: 通过直接分析推断
18984161 GOA
located in nucleus IDA
IDA: 通过直接分析推断
23246290 GOA
part of pICln-Sm protein complex IDA
IDA: 通过直接分析推断
18984161 GOA
part of spliceosomal complex IPI
IPI: 通过物理相互作用推断
33677607 GOA
part of telomerase holoenzyme complex IDA
IDA: 通过直接分析推断
18082603 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

SNRPE 蛋白结构

LSM

LSM: LSM domain (24 - 87)

  • 0
  • 92 a.a.
蛋白主名 其他名称

small nuclear ribonucleoprotein E

sm protein E

SNRPE 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra SNRPE P62304 SF3A2 Homo sapiens Q15428
Anti Tag CoIP
33961781
Intra SNRPE P62304 SF3A2 Homo sapiens Q15428
Anti Tag CoIP
28514442
Intra SNRPE P62304 LSM2 Homo sapiens Q9Y333
Anti Tag CoIP
28514442
Intra SNRPE P62304 LSM2 Homo sapiens Q9Y333
Anti Tag CoIP
33961781
Intra SNRPE P62304 SNRPF Homo sapiens P62306
Validated Y2H
32296183
Intra SNRPE P62304 SNRPF Homo sapiens P62306
Anti Tag CoIP
33961781
Intra SNRPE P62304 SNRPF Homo sapiens P62306
Y2H Array
32296183
Intra SNRPE P62304 SNRPF Homo sapiens P62306
Anti Tag CoIP
28514442
Intra SNRPE P62304 SNRPF Homo sapiens P62306
Comig Non-Denat Gel
18984161
Intra SNRPE P62304 SNRPF Homo sapiens P62306
Y2H
9417867
Intra SNRPE P62304 SNRPF Homo sapiens P62306
Y2H Prey Pooling
32296183
Intra SNRPE P62304 SNRPF Homo sapiens P62306
Y2H
22365833
Intra SNRPE P62304 SNRPF Homo sapiens P62306
GMS
18984161
Intra SNRPE P62304 LSM5 Homo sapiens Q9Y4Y9
Validated Y2H
32296183
Intra SNRPE P62304 LSM5 Homo sapiens Q9Y4Y9
Anti Tag CoIP
33961781
Intra SNRPE P62304 GEMIN5 Homo sapiens Q8TEQ6
Anti Tag CoIP
28514442
Intra SNRPE P62304 GEMIN5 Homo sapiens Q8TEQ6
Anti Tag CoIP
33961781
Intra SNRPE P62304 SNRPG Homo sapiens P62308
Anti Tag CoIP
33961781
Intra SNRPE P62304 SNRPG Homo sapiens P62308
Validated Y2H
32296183
Intra SNRPE P62304 SNRPG Homo sapiens P62308
GMS
18984161
Intra SNRPE P62304 SNRPG Homo sapiens P62308
Comig Non-Denat Gel
18984161
Intra SNRPE P62304 SNRPG Homo sapiens P62308
Y2H
9417867
Intra SNRPE P62304 GEMIN6 Homo sapiens Q8WXD5
Anti Tag CoIP
33961781
Intra SNRPE P62304 GEMIN6 Homo sapiens Q8WXD5
Anti Tag CoIP
28514442
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Hypotrichosis 11

HYPT11

Hypotrichosis, Type 11

Hypotrichosis Simplex

Hereditary Hypotrichosis Simplex

Hhs

Hypotrichosis
Hypotrichosis 7

Woolly Hair, Autosomal Recessive 2, With Or Without Hypotrichosis

HYPT7

Hypotrichosis, Localized, Autosomal Recessive 2

Lah2

Ah

Total Hypotrichosis, Mari Type

Wh/Ht

Hypotrichosis, Autosomal Recessive

Hypotrichosis, Total, Mari Type

Woolly Hair, Autosomal Recessive 2 With Or Without Hypotrichosis

Total Mari Type Hypotrichosis

Alopecia Universalis Congenita, Mari Type

Mari Type Alopecia Universalis Congenita

Autosomal Recessive Hypotrichosis

Autosomal Recessive Localized Hypotrichosis

Autosomal Recessive Woolly Hair With Or Without Hypotrichosis

Htl

Hypotrichoses

Hypotrichosis

Lah

Alopecia Universalis Congenita Mari Type

Hypotrichosis Autosomal Recessive

Hypotrichosis Localized Autosomal Recessive 2

Total Hypotrichosis Mari Type

Woolly Hair Autosomal Recessive 2

ARWH2

Woolly Hair Autosomal Recessive 2 With Or Without Hypotrichosis

Lupus Erythematosus

Lupus

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus, Systemic

Subacute Cutaneous Lupus

Le - [Lupus Erythematosus]

Hypotrichosis 4

HYPT4

Marie Unna Hereditary Hypotrichosis 1

Muhh1

Hypotrichosis, Marie Unna Type, 1

Hypotrichosis Marie Unna 1

Marie Unna Hereditary Hypotrichosis Type 1

Hypotrichosis, Hereditary, Marie Unna Type, 1

Hypotrichosis, Type 4

Hypotrichosis 6

HYPT6

Lah1

Hypotrichosis, Localized, Autosomal Recessive

Monilethrix-Like Hypotrichosis

Hypotrichosis, Localized, Autosomal Recessive 1

Lah

Htl

Autosomal Recessive Localized Hypotrichosis

Hypotrichosis Localized Autosomal Recessive

Hypotrichosis Localized Autosomal Recessive 1

Hypotrichosis, Type 6

Hypotrichosis 8

HYPT8

Lah3

Hypotrichosis, Localized, Autosomal Recessive 3

Woolly Hair, Autosomal Recessive 1, With Or Without Hypotrichosis

Autosomal Recessive Woolly Hair 1, With Or Without Hypotrichosis

Hypotrichosis Localized Autosomal Recessive 3

Woolly Hair Autosomal Recessive 1 With Or Without Hypotrichosis

ARWH1

Hypotrichosis, Type 8

Hypotrichosis 13

HYPT13

Hypotrichosis With Woolly Hair

Hypotrichosis, Type 13

Muscular Atrophy

Muscle Wasting

Amyotrophia

Wasting - Muscle

Skeletal Muscle Atrophy

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]

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]

Alopecia, Neurologic Defects, And Endocrinopathy Syndrome

Ane Syndrome

ANES

Alopecia-Progressive Neurological Defect-Endocrinopathy Syndrome

Alopecia-Progressive Neurological Defect-Endocrinopathy

Endocrine System Diseases

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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 SNRPE MGD MGI:98346
Rattus norvegicus SNRPE RGD RGD:2321675
Macaca mulatta SNRPE VGNC VGNC:100145