2. Gene
  3. SPTLC3 - serine palmitoyltransferase long chain base subunit 3 Gene

SPTLC3 - serine palmitoyltransferase long chain base subunit 3 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as LCB3; SPT3; LCB 3; LCB2B; SPT 3; hLCB2b; SPTLC2L; C20orf38; dJ718P11; dJ718P11.1

Gene ID: 55304 | Gene type: protein coding

About SPTLC3

Cytogenetic location: 20p12.1 Genomic coordinates (GRCh38): 20:13,008,972-13,169,103 (from NCBI)

This gene has 6 transcripts (splice variants), 203 orthologues and 5 paralogues. Broad expression in placenta (RPKM 7.5), thyroid (RPKM 7.0) and 22 other tissues.

Summary

This gene encodes a subunit of the serine palmitoyltransferase complex which catalyzes the rate-limiting step in sphingolipid biosynthesis. This subunit metabolizes lauroyl- and myristoyl-CoA and generates C14 and C16-sphingoid Bases. [provided by RefSeq, Mar 2017]

SPTLC3 Products(2)

mRNA Protein Name
NM_001349945.2 NP_001336874.1 serine palmitoyltransferase 3
NM_018327.4 NP_060797.2 serine palmitoyltransferase 3
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
19416851 GOA
enables serine C-palmitoyltransferase activity IDA
IDA: Inferred from direct assay
19416851 GOA
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within sphingoid biosynthetic process IDA
IDA: Inferred from direct assay
19648650 GOA
involved in sphingosine biosynthetic process IDA
IDA: Inferred from direct assay
19416851 GOA
Cellular Component GO Annotation Evidence Reference Source
part of serine palmitoyltransferase complex IDA
IDA: Inferred from direct assay
17331073 GOA
part of serine palmitoyltransferase complex IPI
IPI: Inferred from physical interaction
19416851 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

SPTLC3 Protein Structure

Aminotran_1_2

Aminotran_1_2: Aminotransferase class I and II (160 - 520)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 552 a.a.
Protein Preferred Names Protein Names

serine palmitoyltransferase 3

long chain base biosynthesis protein 2b

SPTLC3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
SPTLC3 Q9NUV7 SPTLC1 Homo sapiens O15269
Pull Down
19416851
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Sensory Peripheral Neuropathy

Sensory Neuropathy

Peripheral Sensory Neuropathy

Hereditary Sensory And Autonomic Neuropathies
Peripheral Nervous System Disease

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Neuropathy, Hereditary Sensory And Autonomic, Type Ia

HSAN1A

Hsan Ia

Hsan1

Hsn Ia

Hereditary Sensory And Autonomic Neuropathy Type 1a

Neuropathy, Hereditary Sensory And Autonomic, Type 1a

Neuropathy, Hereditary Sensory, Type Ia

Hsn1a

Neuropathy, Hereditary Sensory Radicular, Autosomal Dominant, Type 1a

Hereditary Sensory And Autonomic Neuropathy Type Ia

Neuropathy, Hereditary Sensory And Autonomic, 1a

Hereditary Sensory Neuropathy Type Ia

Hereditary Sensory Radicular Neuropathy Autosomal Dominant Type 1a

Hsn1

Neuropathy, Sensory And Autonomic, Hereditary, Type 1a

Hereditary Sensory Autonomic Neuropathy, Type 1
Neuropathy, Hereditary Sensory And Autonomic, Type Ic

HSAN1C

Hsan Ic

Hsn1c

Hsn Ic

Hereditary Sensory And Autonomic Neuropathy Type 1c

Neuropathy, Hereditary Sensory And Autonomic, Type 1c

Neuropathy, Hereditary Sensory, Type Ic

Hereditary Sensory And Autonomic Neuropathy Type Ic

Neuropathy, Hereditary Sensory And Autonomic, 1c

Hereditary Sensory Neuropathy Type Ic

Neuropathy, Hereditary Sensory/Autonomic, Type Ic

Neuropathy, Sensory And Autonomic, Hereditary, Type Ic
Hereditary Sensory And Autonomic Neuropathy Type 1

Hereditary Sensory And Autonomic Neuropathy Type I

Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome

Hsan1e

Hsan1

Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy

Hsn1e

Hsnie

Hereditary Sensory Neuropathy Type Ie

Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome

Hereditary Sensory And Autonomic Neuropathy Type Ie

Hereditary Sensory And Autonomic Neuropathy Type 1e

Hereditary Sensory Neuropathy With Hearing Loss And Dementia

Dnmt1-Complex Disorder

Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss

Hsn Ie

Hereditary Sensory Autonomic Neuropathy, Type 1

Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]
Hereditary Sensory Neuropathy

Hereditary Sensory And Autonomic Neuropathy

Hereditary Sensory And Autonomic Neuropathies

Familial Dysautonomia, Type Ii

Hsan

Sensory Neuropathy Hereditary

Neuropathy, Sensory And Autonomic, Hereditary

Neuropathy, Sensory, Hereditary

Sensory Neuropathy, Hereditary

Charcot-Marie-Tooth Disease

Cmt - [Charcot-Marie-Tooth Disease]
Localized Osteosarcoma

Localised Osteogenic Sarcoma

Localised Osteosarcoma

Localized Osteogenic Sarcoma
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-RS13738 SPTLC3 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus SPTLC3 VGNC VGNC:65665
Canis familiaris SPTLC3 VGNC VGNC:46781
Rattus norvegicus SPTLC3 RGD RGD:1310030
Mus musculus SPTLC3 MGD MGI:2444678
Macaca mulatta SPTLC3 VGNC VGNC:77929
Bos taurus SPTLC3 VGNC VGNC:35258