1. Gene
  2. SUPV3L1 - Suv3 like RNA helicase Gene

SUPV3L1 - Suv3 like RNA helicase Gene

Homo sapiens

Also known as SUV3

Gene ID: 6832 | Gene type: protein coding

About SUPV3L1

Cytogenetic location: 10q22.1 Genomic coordinates (GRCh38): 10:69,180,234-69,209,093 (from NCBI)

This gene has 7 transcripts (splice variants) and 212 orthologues. Ubiquitous expression in testis (RPKM 11.2), bone marrow (RPKM 8.5) and 25 other tissues.

Summary

Enables helicase activity; nucleic acid binding activity; and protein homodimerization activity. Involved in several processes, including mitochondrial RNA metabolic process; mitochondrion morphogenesis; and positive regulation of mitochondrial RNA catabolic process. Located in mitochondrial nucleoid and nucleus. Part of mitochondrial degradosome. [provided by Alliance of Genome Resources, Apr 2022]

SUPV3L1 Products(7)

mRNA Protein Name
NM_001301683.2 NP_001288612.1 ATP-dependent RNA helicase SUPV3L1, mitochondrial isoform 2
NM_001323584.2 NP_001310513.1 ATP-dependent RNA helicase SUPV3L1, mitochondrial isoform 2
NM_001323585.2 NP_001310514.1 ATP-dependent RNA helicase SUPV3L1, mitochondrial isoform 3
NM_001323586.2 NP_001310515.1 ATP-dependent RNA helicase SUPV3L1, mitochondrial isoform 3
NM_001323587.2 NP_001310516.1 ATP-dependent RNA helicase SUPV3L1, mitochondrial isoform 4
NM_001323588.2 NP_001310517.1 ATP-dependent RNA helicase SUPV3L1, mitochondrial isoform 4
NM_003171.5 NP_003162.2 ATP-dependent RNA helicase SUPV3L1, mitochondrial isoform 1

SUPV3L1 Protein Structure

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (386 - 474)

SUV3_C

SUV3_C: Mitochondrial degradasome RNA helicase subunit C terminal (625 - 672)

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  • 786 a.a.
Protein Preferred Names Protein Names

ATP-dependent RNA helicase SUPV3L1, mitochondrial

SUV3-like helicase

Related Diseases

Diseases Alias
Dyskeratosis Congenita, Autosomal Recessive 5

Dyskeratosis Congenita, Autosomal Dominant, 4

DKCB5

Autosomal Dominant Dyskeratosis Congenita 4

DKCA4

Autosomal Recessive Dyskeratosis Congenita 5

Dyskeratosis Congenita, Autosomal Recessive, 5

Dyskeratosis Congenita, Autosomal Dominant 4

Dyskeratosis Congenita, Autosomal Recessive, Type 5

Neuropathy, Hereditary Motor And Sensory, Russe Type

Charcot-Marie-Tooth Disease Type 4g

HMSNR

Cmt4g

Hereditary Motor And Sensory Neuropathy, Russe Type

Charcot-Marie-Tooth Disease, Type 4g

Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4g

Charcot-Marie-Tooth Neuropathy Type 4g

Charcot-Marie-Tooth Neuropathy, Type 4g

Autosomal Recessive Charcot-Marie-Tooth Disease Type 4g

Hereditary Motor And Sensory Neuropathy Russe Type

Charcot-Marie-Tooth Disease Autosomal Recessive Type 4g

Aicardi-Goutieres Syndrome

Aicardi Goutieres Syndrome

Cree Encephalitis

Aicardi-Goutières Syndrome

Encephalopathy With Basal Ganglia Calcification

Ags

Encephalopathy With Intracranial Calcification And Chronic Lymphocytosis Of Cerebrospinal Fluid

Pseudotoxoplasmosis Syndrome

Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis

Familial Infantile Encephalopathy With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis

Aicardi-Goutieres Syndrome 1

Spastic Ataxia

Spax

Ataxia, Spastic

Leigh Syndrome

Leigh Disease

Infantile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

LS

Sne

Leigh'S Disease

Leigh Syndrome Due To Mitochondrial Complex I Deficiency

Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

Subacute Necrotizing Encephalomyelopathy

Necrotizing Encephalopathy Infantile Subacute Of Leigh

Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

Infantile Necrotizing Encephalomyelopathy

Juvenile Subacute Necrotizing Encephalomyelopathy

Leigh'S Necrotizing Encephalopathy

Subacute Necrotizing Encephalopathy

Juvenile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

Leigh Syndrome Due To Mitochondrial Complex V Deficiency

Encephalopathy, Subacute Necrotizing, Infantile

Encephalopathy, Subacute Necrotizing, Juvenile

Maternally Inherited Leigh Syndrome

Subacute Necrotising Encephalomyelopathy

Subacute Necrotising Encephalopathy

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
Canis familiaris SUPV3L1 VGNC VGNC:46993
Macaca mulatta SUPV3L1 VGNC VGNC:106107
Felis catus SUPV3L1 VGNC VGNC:65852
Mus musculus SUPV3L1 MGD MGI:2441711
Bos taurus SUPV3L1 VGNC VGNC:35483
Rattus norvegicus SUPV3L1 RGD RGD:1305565