PABPN1 - poly(A) binding protein nuclear 1 Gene

中文名称：poly (A) 结合蛋白核 1

种属: Homo sapiens

同用名: OPMD; PAB2; PABII; PABP2; PABP-2

基因 ID: 8106 | 基因类型: protein coding

关于 PABPN1

Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:23,321,457-23,326,163 (from NCBI)

This gene has 8 transcripts (splice variants), 220 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 38.5), spleen (RPKM 30.3) and 25 other tissues.

功能概要

该基因编码一种丰富的核蛋白，该蛋白以高亲和力与新生的 poly (A) 尾巴结合。该蛋白质是真核生物转录本 3' 端 poly (A) 尾部渐进和有效聚合所必需的，并将 poly (A) 尾部的大小控制在约 250 nt。在稳态时，该蛋白定位于细胞核，而不同的 poly (A) 结合蛋白定位于细胞质。该基因在编码区的 5' 端包含一个 GCG 三核苷酸重复序列，并且该重复序列从正常的 6 个拷贝扩展到 8-13 个拷贝会导致常染色体显性遗传性眼咽肌营养不良症 (OPMD) 疾病。相关的假基因已在 19 号染色体和 X 号染色体上被鉴定出来。通读转录也存在于该基因和邻近的上游 BCL2 样 2 (BCL2L2) 基因之间。[RefSeq 提供，2010 年 12 月]

This gene encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. The protein is required for progressive and efficient polymerization of poly(A) tails at the 3' ends of eukaryotic transcripts and controls the size of the poly(A) tail to about 250 nt. At steady-state, this protein is localized in the nucleus whereas a different poly(A) binding protein is localized in the cytoplasm. This gene contains a GCG trinucleotide repeat at the 5' end of the coding region, and expansion of this repeat from the normal 6 copies to 8-13 copies leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease. Related pseudogenes have been identified on chromosomes 19 and X. Read-through transcription also exists between this gene and the neighboring upstream BCL2-like 2 (BCL2L2) gene. [provided by RefSeq, Dec 2010]

PABPN1 基因产物(3)

mRNA	Protein	Name
NM_001360551.3	NP_001347480.1	polyadenylate-binding protein 2 isoform 2
NM_001360552.2	NP_001347481.1	polyadenylate-binding protein 2 isoform 3
NM_004643.4	NP_004634.1	polyadenylate-binding protein 2 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	11371506	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in poly(A)+ mRNA export from nucleus	IMP IMP: 通过突变表型推断	19364924	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in nuclear inclusion body	IDA IDA: 通过直接分析推断	27209344	GOA
located in nucleus	IDA IDA: 通过直接分析推断	19364924	GOA
part of ribonucleoprotein complex	IDA IDA: 通过直接分析推断	17289661	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

PABPN1 蛋白结构

RRM_1

0
100
200
306 a.a.

蛋白主名

其他名称

polyadenylate-binding protein 2

poly(A) binding protein 2

PABPN1 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
种属内	PABPN1	Q86U42	SNW1	Homo sapiens	Q13573	Anti Tag CoIP	11371506
种属内	PABPN1	Q86U42	SNW1	Homo sapiens	Q13573	Pull Down	11371506
种属内	PABPN1	Q86U42	SNW1	Homo sapiens	Q13573	Y2H	11371506
种属内	PABPN1	Q86U42	PABPC1	Homo sapiens	P11940	Anti Tag CoIP	23665581

种属间: 跨种属相互作用 种属内: 同种属相互作用

PABPN1 抗体

目录号	产品名	应用	反应物种
HY-P81776	PABPN1 Antibody (YA1521)	WB, IHC-F, IHC-P, ICC/IF, IP	Human, Mouse

关联疾病

疾病名称

别名

Oculopharyngeal Muscular Dystrophy

OPMD	Muscular Dystrophy, Oculopharyngeal
Dystrophy, Oculopharyngeal Muscular	Oculopharyngeal Dystrophy
Progressive Muscular Dystrophy, Oculopharyngeal Type	Muscular Dystrophy Oculopharyngeal
Dystrophy, Muscular, Oculopharyngeal

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

Ptosis

Blepharoptosis	Drooping Eyelid
Droopy Eyelid	Ptosis Of Eyelid
Paralysis Of Levator Palpebrae Superioris

Influenza

Flu	Influenza With Non-Respiratory Manifestation
Influenza With Other Manifestations	Influenza, Human
Influenza, Susceptibility To	Seasonal Influenza, Virus Identified

Myopathy

Muscular Diseases

Myopathies

Partington Syndrome

X-Linked Reticulate Pigmentary Disorder	PRTS
Partington X-Linked Mental Retardation Syndrome	Mrxs1
Mrx36	Intellectual Developmental Disorder, X-Linked, Syndromic 1
Partington Disease	Pdr
Partington-Mulley Syndrome	Russell-Silver Syndrome, X-Linked
Mental Retardation, X-Linked, Syndromic 1	Mental Retardation, X-Linked, With Dystonic Movements, Ataxia, And Seizures
Mental Retardation, X-Linked 36	X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations
X-Linked Russell-Silver Syndrome	Intelectual Disability-Dystonic Movements-Ataxia-Seizures Syndrome
Intellectual Disability, X-Linked, Syndromic 1	Intellectual Disability, X-Linked, With Dystonic Movements, Ataxia, And Seizures
Partington X-Linked Intellectual Disability Syndrome	X-Linked Intellectual Deficit-Dystonia-Dysarthria
X-Linked Mental Retardation With Dystonic Movements, Ataxia, And Seizures	Familial Cutaneous Amyloidosis
X-Linked Cutaneous Amyloidosis	Xlpdr
X-Linked Intellectual Disability-Dystonia-Dysarthria Syndrome	Pigmentary Disorder, Reticulate, With Systemic Manifestations

Inclusion Body Myositis

Ibm	Sporadic Inclusion Body Myositis
Inflammatory Myopathy	Myositis, Inclusion Body
Inflammatory Myopathies	Sibm
Myositis Inclusion Body	Nonaka Myopathy
Inclusion Body Myopathy, Autosomal Recessive	Inclusion Body Myopathy, Autosomal Dominant
Myositis	Inclusion Body Myopathy, Sporadic

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

Hand-Foot-Genital Syndrome

Hand-Foot-Uterus Syndrome	Hfgs
Hfg Syndrome	Hfu Syndrome
HFG	Hfu
Hand Foot Uterus Syndrome	Hand Foot Genital Syndrome

Synpolydactyly

Syndactyly Type 2	Syndactyly, Type 2
Spd

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

Aspiration Pneumonia

Pneumonia, Aspiration	Pneumonia Aspiration
Aspiration Pneumonitis

Congenital Central Hypoventilation Syndrome

Cchs	Haddad Syndrome
Ondine Curse	Ondine Syndrome
Congenital Central Hypoventilation	Congenital Central Alveolar Hypoventilation Syndrome
Congenital Failure Of Autonomic Control	Ondine'S Curse
Primary Alveolar Hypoventilation	Ondine-Hirschsprung Disease
Central Congenital Hypoventilation Syndrome	Congenital Ondine Curse
Idiopathic Congenital Central Alveolar Hypoventilation	Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome
Ondine-Hirschsprung Syndrome

Muscle Tissue Disease

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS09952	PABPN1 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	PABPN1	VGNC	VGNC:80890
Bos taurus	PABPN1	VGNC	VGNC:53575
Rattus norvegicus	PABPN1	RGD	RGD:619928
Canis familiaris	PABPN1	VGNC	VGNC:50550
Mus musculus	PABPN1	MGD	MGI:1859158

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上海工商

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沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

PABPN1 - poly(A) binding protein nuclear 1 Gene

关于 PABPN1

功能概要

PABPN1 基因产物(3)

PABPN1 蛋白结构

PABPN1 蛋白互作信息

PABPN1 抗体

关联疾病

直系同源

热门区域

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PABPN1 - poly(A) binding protein nuclear 1 Gene

关于 PABPN1

功能概要

PABPN1 基因产物(3)

PABPN1 蛋白结构

PABPN1 蛋白互作信息

PABPN1 抗体

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z