HEATR3 - HEAT repeat containing 3 Gene

Homo sapiens

Also known as SYO1; DBA21

Gene ID: 55027 | Gene type: protein coding

About 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.

Summary

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 Products(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

HEATR3 Protein Structure

HEAT_EZ

0
200
400
600
680 a.a.

Protein Preferred Names

Protein Names

HEAT repeat-containing protein 3

symportin 1

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06102	HEATR3 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	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

Name
Email *

	Sorry, but the email address you supplied was invalid.