2. Gene
  3. HNRNPDL - heterogeneous nuclear ribonucleoprotein D like Gene

HNRNPDL - heterogeneous nuclear ribonucleoprotein D like Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：异质核核糖核蛋白 D 样

种属: Homo sapiens

同用名: HNRNP; JKTBP; HNRPDL; JKTBP2; LGMD1G; LGMDD3; laAUF1

基因 ID: 9987 | 基因类型: protein coding

关于 HNRNPDL

Cytogenetic location: 4q21.22 Genomic coordinates (GRCh38): 4:82,422,564-82,430,462 (from NCBI)

This gene has 10 transcripts (splice variants), 166 orthologues, 36 paralogues and is associated with 2 phenotypes. Ubiquitous expression in ovary (RPKM 71.3), endometrium (RPKM 57.4) and 25 other tissues.

功能概要

该基因属于普遍表达的异质核核糖核蛋白 (hnRNP) 亚家族。 hnRNPs 是 RNA 结合蛋白，它们与异质核 RNA (hnRNA) 复合。这些蛋白质与细胞核中的前体 mRNA 相关，并且似乎影响前体 mRNA 加工以及 mRNA 代谢和运输的其他方面。虽然所有的 hnRNP 都存在于细胞核中，但有些似乎在细胞核和细胞质之间穿梭。 hnRNP 蛋白具有独特的核酸结合特性。该基因编码的蛋白质有两个与 RNA 结合的 RRM 结构域。已针对该基因描述了三种选择性剪接的转录本变体。其中一个变体可能未被翻译，因为转录物是无义介导的 mRNA 衰变的候选者。该基因编码的蛋白质亚型与其家族成员 HNRPD 相似。[RefSeq 提供，2011 年 5 月]

This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two RRM domains that bind to RNAs. Three alternatively spliced transcript variants have been described for this gene. One of the variants is probably not translated because the transcript is a candidate for nonsense-mediated mRNA decay. The protein isoforms encoded by this gene are similar to its family member HNRPD. [provided by RefSeq, May 2011]

HNRNPDL 基因产物(2)

mRNA Protein Name
NM_001207000.1 NP_001193929.1 heterogeneous nuclear ribonucleoprotein D-like isoform b
NM_031372.4 NP_112740.1 heterogeneous nuclear ribonucleoprotein D-like isoform a

HNRNPDL 蛋白结构

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (151 - 218)

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (235 - 296)

  • 0
  • 100
  • 200
  • 300
  • 420 a.a.
蛋白主名 其他名称

heterogeneous nuclear ribonucleoprotein D-like

A+U-rich element RNA binding factor

HNRNPDL 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 HNRNPDL O14979 HNRNPD Homo sapiens Q14103
Crosslink
30021884
Intra HNRNPDL O14979 TARDBP Homo sapiens Q13148
Validated Y2H
32814053
Intra HNRNPDL O14979 TARDBP Homo sapiens Q13148
Y2H Array
32814053
Intra HNRNPDL O14979 TARDBP Homo sapiens Q13148
Y2H Pooling
32814053
Intra HNRNPDL O14979 WFS1 Homo sapiens O76024
Validated Y2H
32814053
Intra HNRNPDL O14979 WFS1 Homo sapiens O76024
Y2H Array
32814053
Intra HNRNPDL O14979 WFS1 Homo sapiens O76024
Y2H Pooling
32814053
Intra HNRNPDL O14979 SF1 Homo sapiens Q15637
Y2H Fragment Pooling
26420826
Intra HNRNPDL O14979 SNRPC Homo sapiens P09234
Y2H Prey Pooling
32296183
Intra HNRNPDL O14979 SNRPC Homo sapiens P09234
Validated Y2H
32296183
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
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3

Lgmd1g

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

LGMDD3

Muscular Dystrophy, Limb-Girdle, Type 1g

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 3

Limb-Girdle Muscular Dystrophy, Type 1g

Muscular Dystrophy Limb-Girdle Type 1g

Hnrnpdl-Related Limb-Girdle Muscular Dystrophy D3

Hnrnpdl-Related Lgmd D3

Lgmd Type 1g

Limb-Girdle Muscular Dystrophy Type 1g

Limb-Girdle Muscular Dystrophy 1g

Dystrophy, Muscular, Limb-Girdle, Type 1g
Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy
Limb-Girdle Muscular Dystrophy

Lgmd

Limb Girdle Muscular Dystrophy

Muscular Dystrophies, Limb-Girdle

Erb'S Muscular Dystrophy

Leyden-Mbius Muscular Dystrophy

Limb-Girdle Syndrome

Myopathic Limb-Girdle Syndrome

Limb Girdle

Muscular Dystrophy Limb-Girdle

Dystrophy, Muscular, Limb-Girdle

Lgmd - [Limb-Girdle Muscular Dystrophy]

Limb Girdle Muscle Dystrophy

Limb-Girdle Myopathy
Mixed Connective Tissue Disease

Sharp Syndrome

Mctd

Connective Tissue Disease Overlap Syndrome

Mixed Collagen Vascular Disease

Mctd - [Mixed Connective Tissue Disease]
Multisystem Proteinopathy
Chromosome 4q21 Deletion Syndrome

4q21 Microdeletion Syndrome

Monosomy 4q21

Del(4)(Q21)

Chromosome Deletion Syndrome 4q21
Autosomal Dominant Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Lgmd2b

Muscular Dystrophy, Limb-Girdle, Type 2b

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e

Beta-Sarcoglycanopathy

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y

Muscular Dystrophy, Limb-Girdle, Type 3

Lgmd3

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s

LGMDR2

Muscular Dystrophy, Limb-Girdle, Type 2s

Limb-Girdle Muscular Dystrophy Type 2b

Lgmd2e

Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency

Muscular Dystrophy, Limb-Girdle, Type 2e

Lgmd2s

Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency

Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency

Lgmd2y

Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine

Muscular Dystrophy, Limb-Girdle, Type 2y

Dysferlin-Related Limb-Girdle Muscular Dystrophy R2

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Dysferlin-Related Lgmd R2

Lgmd Due To Dysferlin Deficiency

Lgmd Type 2b

Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency

Limb-Girdle Muscular Dystrophy 2b

Limb-Girdle Muscular Dystrophy, Type 2b

Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2

Dystrophy, Muscular, Limb-Girdle, Type 2b

Limb-Girdle Muscular Dystrophy, Type 2e
X-Linked Hereditary Ataxia
Fragile X-Associated Tremor/Ataxia Syndrome

Fxtas Syndrome

Fragile X Tremor/Ataxia Syndrome

Fxtas
Colon Adenocarcinoma

Adenocarcinoma Of Colon

Adenocarcinoma Of The Colon

Colonic Adenocarcinoma
Myopathy

Muscular Diseases

Myopathies
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia

Ibmpfd

Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia

Pagetoid Amyotrophic Lateral Sclerosis

Pagetoid Neuroskeletal Syndrome

Inclusion Body Myopathy With Paget Disease Of Bone And/Or Frontotemporal Dementia

Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone And/Or Frontotemporal Dementia

Multisystem Proteinopathy

Limb-Girdle Muscular Dystrophy With Paget Disease Of Bone

Inclusion Body Myopathy With Paget'S Disease Of Bone And Frontotemporal Dementia

Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dement

Lower Motor Neuron Degeneration With Paget-Like Bone Disease

Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone

Myopathy, Inclusion Body, With Early-Onset Paget Disease And Frontotemporal Dementia
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1

FTDALS1

Frontotemporal Dementia And/Or Motor Neuron Disease

Ftdmnd

Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia

Alsftd

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1

Frontotemporal Dementia With Motor Neuron Disease

Ftdals

Ftd-Als

Ftd-Mnd

Frontotemporal Dementia With Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1

Amyotrophic Lateral Sclerosis/Frontotemporal Dementia

Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1

Frontotemporal Lobar Degeneration

Grn-Related Frontotemporal Dementia
Frontotemporal Dementia

Pallidopontonigral Degeneration

Frontotemporal Lobar Degeneration

Semantic Dementia

FTD

Frontotemporal Lobe Dementia

Multiple System Tauopathy With Presenile Dementia

Dementia, Frontotemporal

Frontotemporal Dementia With Parkinsonism

Mstd

Frontotemporal Lobar Degeneration With Tau Inclusions

Ftld With Tau Inclusions

Dementia, Frontotemporal, With Parkinsonism

Fldem

Ftdp17

Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

Ddpac

Wilhelmsen-Lynch Disease

Wld

Ppnd

Dementia, Frontotemporal, With Or Without Parkinsonism

Semantic Primary Progressive Aphasia

Semantic Variant Ppa

Wilhemsen-Lynch Disease

Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

Ftd-Als

Ftld

Pick Complex

Pick Disease Of The Brain

Frontotemporal Dementia With Parkinsonism-17

Grn-Related Frontotemporal Dementia

Frontotemporal Dementia With Motor Neuron Disease

Dementia In Fronto-Temporal Lobar Degeneration

Ftd - [Frontotemporal Dementia]

Temple Dementia

Frontal Lobe Dementia
Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS06268 HNRNPDL Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus HNRNPDL VGNC VGNC:78508
Canis familiaris HNRNPDL VGNC VGNC:41729
Mus musculus HNRNPDL MGD MGI:1355299
Bos taurus HNRNPDL VGNC VGNC:29895
Rattus norvegicus HNRNPDL RGD RGD:1309950
Macaca mulatta HNRNPDL VGNC VGNC:81186
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