EIF6 - eukaryotic translation initiation factor 6 Gene

中文名称：真核翻译起始因子 6

种属: Homo sapiens

同用名: CAB; EIF3A; eIF-6; p27BBP; ITGB4BP; b(2)gcn; p27(BBP)

基因 ID: 3692 | 基因类型: protein coding

关于 EIF6

Cytogenetic location: 20q11.22 Genomic coordinates (GRCh38): 20:35,278,906-35,284,772 (from NCBI)

This gene has 9 transcripts (splice variants) and 209 orthologues. Ubiquitous expression in esophagus (RPKM 55.8), duodenum (RPKM 45.2) and 25 other tissues.

功能概要

半桥粒是连接基底层和中间丝细胞骨架的结构。半桥粒的一个重要功能成分是整合素 beta-4 亚基 (ITGB4) ，这是一种含有两个 III 型纤连蛋白结构域的蛋白质。由该基因编码的蛋白质与 ITGB4 的纤连蛋白 III 型结构域结合，可能有助于将 ITGB4 连接到中间丝细胞骨架。所编码的蛋白质是不溶性的，存在于细胞核和细胞质中，可以作为翻译起始因子发挥作用，并阻止 40S 和 60S 核糖体亚基的结合。已发现该基因的多个非蛋白质编码转录物变体和编码两种不同亚型的变体。[RefSeq 提供，2012 年 6 月]

Hemidesmosomes are structures which link the basal lamina to the intermediate filament Cytoskeleton. An important functional component of hemidesmosomes is the Integrin beta-4 subunit (ITGB4), a protein containing two fibronectin type III domains. The protein encoded by this gene binds to the fibronectin type III domains of ITGB4 and may help link ITGB4 to the intermediate filament Cytoskeleton. The encoded protein, which is insoluble and found both in the nucleus and in the cytoplasm, can function as a translation initiation factor and prevent the association of the 40S and 60S ribosomal subunits. Multiple non-protein coding transcript variants and variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]

EIF6 基因产物(4)

mRNA	Protein	Name
NM_001267810.1	NP_001254739.1	eukaryotic translation initiation factor 6 isoform a
NM_002212.4	NP_002203.1	eukaryotic translation initiation factor 6 isoform a
NM_181466.3	NP_852131.1	eukaryotic translation initiation factor 6 isoform c
NM_181468.2	NP_852133.1	eukaryotic translation initiation factor 6 isoform a

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	17507929	GOA
enables ribosome binding	IDA IDA: 通过直接分析推断	21536732	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cytosolic ribosome assembly	IMP IMP: 通过突变表型推断	21536732	GOA
involved in miRNA-mediated gene silencing by inhibition of translation	IMP IMP: 通过突变表型推断	17507929	GOA
involved in miRNA-mediated post-transcriptional gene silencing	IMP IMP: 通过突变表型推断	17507929	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasm	IDA IDA: 通过直接分析推断	12426392	GOA
located in nucleus	IDA IDA: 通过直接分析推断	12426392	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

EIF6 蛋白结构

eIF-6

0
100
200
245 a.a.

蛋白主名

其他名称

eukaryotic translation initiation factor 6

B4 integrin interactor

EIF6 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	EIF6	P56537	MSRB3	Homo sapiens	Q8IXL7-2	Validated Y2H	32296183
种属内	EIF6	P56537	MEOX2	Homo sapiens	Q6FHY5	Y2H Prey Pooling	32296183
种属内	EIF6	P56537	MEOX2	Homo sapiens	Q6FHY5	Validated Y2H	32296183
种属内	EIF6	P56537	MEOX2	Homo sapiens	Q6FHY5	Y2H Array	32296183
种属内	EIF6	P56537	VAC14	Homo sapiens	Q08AM6	Y2H Prey Pooling	32296183
种属内	EIF6	P56537	VAC14	Homo sapiens	Q08AM6	Validated Y2H	32296183
种属内	EIF6	P56537	VAC14	Homo sapiens	Q08AM6	Y2H Array	32296183
种属间	EIF6	P56537	Prkcb	Mus musculus	P68404	Protein Kinase Assay	21665150
种属内	EIF6	P56537	EIF2AK2	Homo sapiens	P19525	Anti Tag CoIP	21903422
种属内	EIF6	P56537	NREP	Homo sapiens	Q16612	Anti Bait CoIP	22365962
种属内	EIF6	P56537	NREP	Homo sapiens	Q16612	Y2H	22365962

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

Shwachman-Diamond Syndrome 1

Shwachman-Diamond Syndrome	Shwachman Syndrome
Shwachman-Bodian-Diamond Syndrome	Sds
Pancreatic Insufficiency And Bone Marrow Dysfunction	Shwachman-Bodian Syndrome
SDS1	Lipomatosis Of Pancreas, Congenital
Congenital Lipomatosis Of Pancreas	Shwachman-Diamond Type Metaphyseal Dysplasia
Metaphyseal Chondrodysplasia, Shwachman Type	Shwachman-Diamond-Oski Syndrome

Exocrine Pancreatic Insufficiency

Bowen-Conradi Syndrome

BWCNS	Bowen Hutterite Syndrome
Bowen-Conradi Hutterite Syndrome	Bowen Syndrome, Hutterite Type
Bowen Hutterite Syndrome, Formerly	Hutterite Syndrome
Bowen Syndrome Hutterite Type	Fetal Growth Retardation

Anauxetic Dysplasia 1

Anauxetic Dysplasia	Spondylometaepiphyseal Dysplasia, Menger Type
Spondylometaepiphyseal Dysplasia, Anauxetic Type	Spondyloepimetaphyseal Dysplasia, Anauxetic Type
ANXD1	Anxd
Spondylometaepiphyseal Dysplasia Anauxetic Type	Spondylometaepiphyseal Dysplasia Menger Type
Ad	Spondyloepimetaphyseal Dysplasia, Menger Type
Dysplasia, Anauxetic, Type 1

Diamond-Blackfan Anemia

Congenital Pure Red Cell Aplasia	Aase Syndrome
Erythrogenesis Imperfecta	Anemia, Diamond-Blackfan
Congenital Hypoplastic Anemia	Aase-Smith Ii Syndrome
Bds	Blackfan-Diamond Anemia
Congenital Prca	Congenital Hypoplastic Anemia, Blackfan-Diamond Type
Dba	Blackfan - Diamond Syndrome
Chronic Constitutional Pure Red Cell Anaemia	Anemia Diamond Blackfan Type
Anemia Congenital Erythroid Hypoplastic	Aregenerative Anemia Chronic Congenital
Blackfan Diamond Syndrome	Red Cell Aplasia, Pure Hereditary
Aase-Smith Syndrome Ii	Bda
Blackfan Diamond Anemia	Blackfan-Diamond Disease
Blackfan-Diamond Syndrome	Chronic Congenital Agenerative Anemia
Congenital Erythroid Hypoplastic Anemia	Congenital Hypoplastic Anemia Of Blackfan And Diamond
Congenital Pure Red Cell Anemia	Hypoplastic Congenital Anemia
Inherited Erythroblastopenia	Pure Hereditary Red Cell Aplasia
Anemia, Hypoplastic, Congenital	Anemia Hypoplastic Congenital
Fanconi Anemia	Constitutional Aplastic Anemia
Diamond-Blackfan Anemia 1	Aase Smith Syndrome 2
Congenital Red Cell Aplasia	Red Cell Aplasia Of Infants
Pure Red Cell Aplasia Of Infants	Congenital Red Cell Aplastic Anaemia
Congenital Pure Red Cell Anaemia	Congenital Erythroid Hypoplasia
Pearson Marrow-Pancreas Syndrome

Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant	Dc
Dkc	Zinsser-Engman-Cole Syndrome
Dyskeratosis Congenita, Autosomal Dominant	Autosomal Dominant Dyskeratosis Congenita
Dkca	Dyskeratosis Congenita Scoggins Type
Zinsser-Cole-Engman Syndrome	X-Linked Dyskeratosis Congenita
Hoyeraal-Hreidarsson Syndrome

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-RS04289	EIF6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	EIF6	VGNC	VGNC:57006
Mus musculus	EIF6	MGD	MGI:1196288
Felis catus	EIF6	VGNC	VGNC:80091
Rattus norvegicus	EIF6	RGD	RGD:1305373
Macaca mulatta	EIF6	VGNC	VGNC:84765
Canis familiaris	EIF6	VGNC	VGNC:54648

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