HEATR3 - HEAT repeat containing 3 Gene

Also Known as SYO1; DBA21

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55027

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

Gene Ontology

  • Biological Process
Biological Process GO Annotation Evidence Verweise Source
involved in erythrocyte maturation IMP
IMP: Inferred from mutant phenotype
35213692 GOA
involved in protein import into nucleus IMP
IMP: Inferred from mutant phenotype
35213692 GOA
involved in ribosomal large subunit biogenesis IMP
IMP: Inferred from mutant phenotype
35213692 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HEATR3 Protein Structure

HEAT_EZ

HEAT_EZ: HEAT-like repeat (53 - 106)

  • 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

Pre-clinical Phase

Bioactive Molecules (1)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS06102 HEATR3 Human Pre-designed siRNA Set A Pre-designed Set / 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
Others HEATR3 NCBI