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SPTLC3 - serine palmitoyltransferase long chain base subunit 3 Gene

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

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 55304

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	参考文献	由来
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	参考文献	由来
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	参考文献	由来
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

0
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300
400
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552 a.a.

Protein Preferred Names	Protein Names
serine palmitoyltransferase 3	long chain base biosynthesis protein 2b

SPTLC3 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	SPTLC3	Q9NUV7	SPTLC1	Homo sapiens	O15269	Pull Down	19416851

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS13738	SPTLC3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	SPTLC3	NCBI