1. Gene
  2. SNRPD1 - small nuclear ribonucleoprotein D1 polypeptide Gene

SNRPD1 - small nuclear ribonucleoprotein D1 polypeptide Gene

中文名称:小核核糖核蛋白 D1 多肽

种属: Homo sapiens

同用名: SMD1; SNRPD; Sm-D1; HsT2456

基因 ID: 6632 | 基因类型: protein coding

关于 SNRPD1

Cytogenetic location: 18q11.2 Genomic coordinates (GRCh38): 18:21,612,314-21,633,520 (from NCBI)

This gene has 4 transcripts (splice variants), 234 orthologues and 2 paralogues. Ubiquitous expression in lymph node (RPKM 17.9), bone marrow (RPKM 15.5) and 25 other tissues.

功能概要

该基因编码属于 SNRNP 核心蛋白家族的小核核糖核蛋白。该蛋白质可作为带电蛋白质支架,通过与 RNA 的非特异性静电接触促进 SNRNP 组装或加强 SNRNP-SNRNP 相互作用。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供,2014 年 5 月]

This gene encodes a small nuclear ribonucleoprotein that belongs to the SNRNP core protein family. The protein may act as a charged protein scaffold to promote SNRNP assembly or strengthen SNRNP-SNRNP interactions through nonspecific electrostatic contacts with RNA. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

SNRPD1 基因产物(2)

mRNA Protein Name
NM_001291916.2 NP_001278845.1 small nuclear ribonucleoprotein Sm D1 isoform 2
NM_006938.4 NP_008869.1 small nuclear ribonucleoprotein Sm D1 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 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
14524621 GOA
located in nucleus IMP
IMP: 通过突变表型推断
14524621 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
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

SNRPD1 蛋白结构

LSM

LSM: LSM domain (6 - 70)

  • 0
  • 100
  • 119 a.a.
蛋白主名 其他名称

small nuclear ribonucleoprotein Sm D1

Sm-D autoantigen

SNRPD1 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 SNRPD1 P62314 SNRPD2 Homo sapiens P62316
Y2H
9417867
Intra SNRPD1 P62314 SMN1 Homo sapiens Q16637
NMR
11135666
Intra SNRPD1 P62314 SMN1 Homo sapiens Q16637
Pull Down
11135666
Intra SNRPD1 P62314 CLNS1A Homo sapiens P54105
Validated Y2H
25416956
Intra SNRPD1 P62314 CLNS1A Homo sapiens P54105
Y2H Prey Pooling
32296183
Intra SNRPD1 P62314 CLNS1A Homo sapiens P54105
Y2H Array
32296183
Cross SNRPD1 P62314 P27958-PRO_0000037573 Hepatitis C virus P27958-PRO_0000037573
Pull Down
14524621
Cross SNRPD1 P62314 P27958-PRO_0000037573 Hepatitis C virus P27958-PRO_0000037573
IF
14524621
Cross SNRPD1 P62314 P27958-PRO_0000037573 Hepatitis C virus P27958-PRO_0000037573
Y2H
14524621
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
Lupus Erythematosus

Lupus

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus, Systemic

Subacute Cutaneous Lupus

Le - [Lupus Erythematosus]

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]

Autoimmune Disease

Autoimmune Diseases

Autoimmune Hypersensitivity Disease

Hypersensitivity Reaction Type Ii Disease

Type Ii Hypersensitivity Reaction Disease

Noonan Syndrome 2

NS2

Noonan Syndrome, Autosomal Recessive

Noonan Syndrome 2, Autosomal Recessive

Noonan Syndrome, Type 2

Muscular Atrophy

Muscle Wasting

Amyotrophia

Wasting - Muscle

Skeletal Muscle Atrophy

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]

Spinal Muscular Atrophy, Type I

Werdnig-Hoffmann Disease

SMA1

Spinal Muscular Atrophy 1

Sma I

Sma, Infantile Acute Form

Muscular Atrophy, Infantile

Spinal Muscular Atrophy-1

Hmn Proximal Type I

Infantile Muscular Atrophy

Proximal Spinal Muscular Atrophy Type 1

Sma Type 1

Sma Type I

Sma-I

Hereditary Motor Neuropathy Proximal Type I

Progressive Muscular Atrophy Of Infancy

Proximal Spinal Muscular Atrophy, Type 1

Werdnig Hoffmann Disease

Infantile Spinal Muscular Atrophy

Infantile-Onset Spinal Muscular Atrophy

Proximal Hereditary Motor Neuropathy Type I

Sma Infantile Acute Form

Spinal Muscular Atrophy Type I

Werdnig-Hoffman Disease

Atrophy, Muscular, Spinal, Type 1

Noonan Syndrome 1

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

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
Felis catus SNRPD1 VGNC VGNC:65537
Macaca mulatta SNRPD1 VGNC VGNC:77677
Canis familiaris SNRPD1 VGNC VGNC:46611
Rattus norvegicus SNRPD1 RGD RGD:1306345
Mus musculus SNRPD1 MGD MGI:98344