SEH1L - SEH1 like nucleoporin Gene

中文名称：SEH1 样核孔蛋白

种属: Homo sapiens

同用名: Seh1; SEH1A; SEH1B; SEC13L

基因 ID: 81929 | 基因类型: protein coding

关于 SEH1L

Cytogenetic location: 18p11.21 Genomic coordinates (GRCh38): 18:12,948,011-12,987,536 (from NCBI)

This gene has 10 transcripts (splice variants), 218 orthologues and 1 paralogue. Ubiquitous expression in brain (RPKM 9.1), lymph node (RPKM 7.7) and 25 other tissues.

功能概要

该基因编码的蛋白质是核孔复合体 Nup107-160 的一部分。该蛋白质包含 WD 重复序列，与酵母 Seh1 具有 34% 的氨基酸同一性，与酵母 Sec13 具有 30% 的同一性。 Nup107-160 复合体的所有成分，包括这种蛋白质，在有丝分裂中专门定位于着丝粒。已经为该基因发现了编码不同亚型的两个可变剪接的转录物变体。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene is part of a nuclear pore complex, Nup107-160. This protein contains WD repeats and shares 34% amino acid identity with yeast Seh1 and 30% identity with yeast Sec13. All constituents of the Nup107-160 complex, including this protein, specifically localize to kinetochores in mitosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

SEH1L 基因产物(2)

mRNA	Protein	Name
NM_001013437.2	NP_001013455.1	nucleoporin SEH1 isoform 1
NM_031216.4	NP_112493.2	nucleoporin SEH1 isoform 2

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	24315095	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in attachment of mitotic spindle microtubules to kinetochore	IMP IMP: 通过突变表型推断	17363900	GOA
involved in cellular response to amino acid starvation	IMP IMP: 通过突变表型推断	23723238	GOA
involved in cellular response to nutrient levels	IDA IDA: 通过直接分析推断	35831510	GOA
involved in mitotic metaphase chromosome alignment	IMP IMP: 通过突变表型推断	17363900	GOA
involved in nuclear pore organization	IMP IMP: 通过突变表型推断	15146057	GOA
involved in positive regulation of TORC1 signaling	IDA IDA: 通过直接分析推断	35831510	GOA
involved in positive regulation of TORC1 signaling	IMP IMP: 通过突变表型推断	25457612	GOA
involved in protein-containing complex localization	IMP IMP: 通过突变表型推断	23723238	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of GATOR2 complex	IDA IDA: 通过直接分析推断	35831510	GOA
colocalizes with kinetochore	IDA IDA: 通过直接分析推断	15146057	GOA
located in lysosomal membrane	IDA IDA: 通过直接分析推断	28199306	GOA
located in nuclear envelope	IDA IDA: 通过直接分析推断	24315095	GOA
part of nuclear pore outer ring	IDA IDA: 通过直接分析推断	17360435	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

SEH1L 蛋白结构

WD40

0
100
200
300
360 a.a.

蛋白主名

其他名称

nucleoporin SEH1

GATOR complex protein SEH1

SEH1L 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	SEH1L	Q96EE3	SEC13	Homo sapiens	P55735	Anti Tag CoIP	26496610
Intra	SEH1L	Q96EE3	SEC13	Homo sapiens	P55735	BiFC	27194810
Intra	SEH1L	Q96EE3	NUP85	Homo sapiens	Q9BW27	Anti Tag CoIP	26496610

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

Nail Disorder, Nonsyndromic Congenital, 4

Anonychia Congenita	Anonychia
Hyponychia Congenita	NDNC4
Anonychia/Hyponychia Congenita	Nonsyndromic Congenital Nail Disorder 4
Isolated Congenital Anonychia	Anonychia Congenita Totalis
Anonychia Totalis	Autosomal Recessive Nonsyndromic Congenital Nail Disorder-4
Congenital Anonychia	Nonsyndromic Congenital Nail Disorder, 4
Absent Nails	Aplastic Nails
Congenital Absence Of Nails	Isolated Anonychia
Nail Disorder, Non-Syndromic Congenital, 4	Nail Disorder, Nonsyndromic, Congenital, Type 4

Nonsyndromic Congenital Nail Disorder

Nail Disorder, Nonsyndromic Congenital

Achalasia-Addisonianism-Alacrima Syndrome

Allgrove Syndrome	Triple-A Syndrome
Achalasia-Addisonianism-Alacrimia Syndrome	Alacrima-Achalasia-Adrenal Insufficiency Neurologic Disorder
Triple A Syndrome	Aaa Syndrome
AAAS	Glucocorticoid Deficiency With Achalasia
Glucocorticoid Deficiency And Achalasia	Addisonian-Achalasia Syndrome
Hypoadrenalism With Achalasia	Alacrima-Achalasia-Addisonianism
Aaa	Acth-Resistant Adrenal Insufficiency, Achalasia And Alacrima
Achalasia Addisonianism Alacrimia Syndrome	Achalasia Alacrima Syndrome
Addisonian Achalasia Syndrome	Achalasia-Addisonian Syndrome
Achalasia-Alacrima Syndrome	2a Syndrome
3a Syndrome	4a Syndrome
Adrenal Insufficiency-Achalasia-Alacrima Syndrome	Double A Syndrome
Quaternary A Syndrome	Acth-Resistant Adrenal Insufficiency With Achalasia And Alacrima
Allgrove'S Syndrome	Adrenal Gland Hypofunction
Adrenal Cortical Hypofunction

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-RS12629	SEH1L Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	SEH1L	RGD	RGD:6490353
Felis catus	SEH1L	VGNC	VGNC:64977
Bos taurus	SEH1L	VGNC	VGNC:34420
Mus musculus	SEH1L	MGD	MGI:1919374

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

SEH1L - SEH1 like nucleoporin Gene

关于 SEH1L

功能概要

SEH1L 基因产物(2)

SEH1L 蛋白结构

SEH1L 蛋白互作信息

关联疾病

直系同源

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SEH1L - SEH1 like nucleoporin Gene

关于 SEH1L

功能概要

SEH1L 基因产物(2)

SEH1L 蛋白结构

SEH1L 蛋白互作信息

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