HEATR3 - HEAT repeat containing 3 Gene

中文名称：含 HEAT 重复 3

种属: Homo sapiens

同用名: SYO1; DBA21

基因 ID: 55027 | 基因类型: protein coding

关于 HEATR3

Cytogenetic location: 16q12.1 Genomic coordinates (GRCh38): 16:50,065,970-50,107,272 (from NCBI)

This gene has 16 transcripts (splice variants) and 207 orthologues. Ubiquitous expression in appendix (RPKM 5.5), spleen (RPKM 4.5) and 25 other tissues.

功能概要

由该基因编码的蛋白质在核糖体蛋白质转运和 5S 核糖核蛋白颗粒 (5S RNP) 的组装中发挥作用。编码的蛋白质也可能参与 NOD2 介导的 NF 活化信号。[RefSeq 提供，2016 年 7 月]

The protein encoded by this gene plays a role in ribosomal protein transport and in the assembly of the 5S ribonucleoprotein particle (5S RNP). The encoded protein also may be involved in NOD2-mediated NF-kappaB signaling. [provided by RefSeq, Jul 2016]

HEATR3 基因产物(4)

mRNA	Protein	Name
NM_001329729.2	NP_001316658.1	HEAT repeat-containing protein 3 isoform b
NM_001329730.2	NP_001316659.1	HEAT repeat-containing protein 3 isoform b
NM_001329731.2	NP_001316660.1	HEAT repeat-containing protein 3 isoform c
NM_182922.4	NP_891552.1	HEAT repeat-containing protein 3 isoform a

基因本体论

生物过程

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in erythrocyte maturation	IMP IMP: 通过突变表型推断	35213692	GOA
involved in protein import into nucleus	IMP IMP: 通过突变表型推断	35213692	GOA
involved in ribosomal large subunit biogenesis	IMP IMP: 通过突变表型推断	35213692	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

HEATR3 蛋白结构

HEAT_EZ

0
200
400
600
680 a.a.

蛋白主名

其他名称

HEAT repeat-containing protein 3

symportin 1

关联疾病

疾病名称

别名

Diamond-Blackfan Anemia 21

DBA21

Diamond-Blackfan Anemia 1

Aase Syndrome	DBA1
Erythrogenesis Imperfecta	Aase-Smith Syndrome Ii
Dba	Blackfan-Diamond Syndrome
Bds	Anemia, Congenital Hypoplastic, Of Blackfan And Diamond
Anemia, Congenital Erythroid Hypoplastic	Red Cell Aplasia, Pure, Hereditary
Aregenerative Anemia, Chronic Congenital	Rps19-Related Diamond-Blackfan Anemia
Chronic Congenital Aregenerative Anemia	Congenital Erythroid Hypoplastic Anemia
Congenital Hypoplastic Anemia Of Blackfan And Diamond	Pure Hereditary Red Cell Aplasia
Anemia, Diamond-Blackfan, Type 1	Anemia, Diamond-Blackfan
Aase Smith Syndrome 2	Familial Hypoplastic Anaemia With Malformations
Constitutional Pure Red Cell Aplasia

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

Synovium Cancer

Malignant Tumor Of Synovium

Synovial Neoplasm

Bone Chondrosarcoma

Biphasic Synovial Sarcoma

Synovial Sarcoma, Biphasic

Biphasic Sarcoma Of Synovium

Sarcoma, Synovial

Synovial Sarcoma	Synovialosarcoma
Synovial Cell Sarcoma	Sarcoma Synovial

Dedifferentiated Liposarcoma

Ddls	Liposarcoma Dedifferentiated
Liposarcoma, Dedifferentiated

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-RS06102	HEATR3 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	HEATR3	RGD	RGD:1308267
Macaca mulatta	HEATR3	VGNC	VGNC:73239
Bos taurus	HEATR3	VGNC	VGNC:29792
Canis familiaris	HEATR3	VGNC	VGNC:41634
Felis catus	HEATR3	VGNC	VGNC:62776
Mus musculus	HEATR3	MGD	MGI:2444491

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