1. Gene
  2. EIF4A3 - eukaryotic translation initiation factor 4A3 Gene

EIF4A3 - eukaryotic translation initiation factor 4A3 Gene

Homo sapiens

Also known as Fal1; RCPS; DDX48; MUK34; NUK34; NMP265; eIF4AIII; eIF4A-III; eIF-4A-III

Gene ID: 9775 | Gene type: protein coding

About EIF4A3

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:80,134,369-80,147,128 (from NCBI)

This gene has 9 transcripts (splice variants), 230 orthologues, 38 paralogues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 66.0), adrenal (RPKM 43.4) and 25 other tissues.

Summary

This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a nuclear matrix protein. Its amino acid sequence is highly similar to the amino acid sequences of the translation initiation factors eIF4AI and eIF4AII, two other members of the DEAD box protein family. [provided by RefSeq, Jul 2008]

EIF4A3 Products(2)

mRNA Protein Name
NM_001411099.1 NP_001398028.1 eukaryotic initiation factor 4A-III isoform 2
NM_014740.4 NP_055555.1 eukaryotic initiation factor 4A-III isoform 1

EIF4A3 Protein Structure

DEAD

DEAD: DEAD/DEAH box helicase (63 - 225)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (296 - 372)

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  • 411 a.a.
Protein Preferred Names Protein Names

eukaryotic initiation factor 4A-III

ATP-dependent RNA helicase DDX48

Related Diseases

Diseases Alias
Robin Sequence With Cleft Mandible And Limb Anomalies

Richieri Costa Pereira Syndrome

Richieri Costa-Pereira Syndrome

Richieri-Costa-Pereira Syndrome

RCPS

Richieri-Costa And Pereira Form Of Acrofacial Dysostosis

Short Stature, Robin Sequence, Cleft Mandible, Pre/Postaxial Hand Anomalies, And Clubfoot

Short Stature-Pierre Robin Sequence-Cleft Mandible-Hand Anomalies Clubfoot Syndrome

Short Stature-Pierre Robin Syndrome-Cleft Mandible-Hand Anomalies Clubfoot Syndrome

Richieri-Costa And Pereira Syndrome

Mandibulofacial Dysostosis, Guion-Almeida Type

Mandibulofacial Dysostosis With Microcephaly

Mandibulofacial Dysostosis-Microcephaly Syndrome

MFDGA

MFDM

Mfdm Syndrome

Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate

Growth Delay - Intellectual Disability - Mandibulofacial Dysostosis - Microcephaly - Cleft Palate

Growth Delay-Intellectual Disability-Mandibulofacial Dysostosis-Microcephaly-Cleft Palate Syndrome

Dysostosis, Mandibulofacial, Guion-Almeida Type

Acrofacial Dysostosis 1, Nager Type

Nager Syndrome

Nager Acrofacial Dysostosis

AFD1

Preaxial Acrofacial Dysostosis

Mandibulofacial Dysostosis, Treacher Collins Type, With Limb Anomalies

Afd, Nager Type

Nager Acrofacial Dysostosis Syndrome

Nafd

Acrofacial Dysostosis, Nager Type

Afd

Preaxial Manibulofacial Dysostosis

Split Hand Deformity-Mandibulofacial Dysostosis

Preaxial Mandibulofacial Dysostosis

Mandibulofacial Dysostosis With Preaxial Limb Anomalies

Preaxial Acrodysostosis

Afd Nager Type

Mandibulofacial Dysostosis Treacher Collins Type With Limb Anomalies

Acrofacial Dysostosis
Burn-Mckeown Syndrome

Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome

Oculootofacial Dysplasia

BMKS

Oofd

Bilateral Choanal Atresia, Cardiac Defects, Deafness, And Dysmorphic Appearance

Choanal Atresia - Deafness - Cardiac Defects - Dysmorphism Syndrome

Choanal Atresia Deafness Cardiac Defects Dysmorphism

Oculo-Oto-Facial Dysplasia

Learning Disability

Learning Disabilities

Learning Disorders

Academic Skill Disorder

Learning Disorder

Thrombocytopenia-Absent Radius Syndrome

Tar Syndrome

Radial Aplasia-Thrombocytopenia Syndrome

Absent Radii And Thrombocytopenia

TAR

Chromosome 1q21.1 Deletion Syndrome, 200-Kb

Thrombocytopenia Absent Radius Syndrome

Thrombocytopenia Absent Radii

Chromosome 1q21.1 Deletion Syndrome

Thrombocytopenia With Absent Radii Syndrome

Radial Aplasia-Amegakaryocytic Thrombocytopenia

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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

Orthologs Information

Species Symbol Source ID
Mus musculus EIF4A3 MGD MGI:1923731
Macaca mulatta EIF4A3 VGNC VGNC:99146
Rattus norvegicus EIF4A3 RGD RGD:1591139
Bos taurus EIF4A3 VGNC VGNC:28406
Canis familiaris EIF4A3 VGNC VGNC:40281
Felis catus EIF4A3 VGNC VGNC:61789