serine palmitoyltransferase long chain base subunit 1

Summary
Gene Symbol
  • SPTLC1
Aliases
  • HSAN1
  • LCB1
  • SPTI
  • hLCB1
Organism
Homo sapiens (human)
External Links
NCBI Gene
10558
HGNC
11277
KEGG Gene ID
hsa:10558
PubChem
10558
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acyltransferase
  • Alternative splicing
  • Amyotrophic lateral sclerosis
  • Disease variant
  • Endoplasmic reticulum
  • Neuropathy
  • Phosphoprotein
  • Pyridoxal phosphate
  • Reference proteome
  • Sphingolipid metabolism
  • Transmembrane helix
Proteins
Displaying all 2 entries
UniProt Protein Name
Q6NUL7
  • Long chain base biosynthesis protein 1
  • Serine-palmitoyl-CoA transferase 1
O15269
  • Long chain base biosynthesis protein 1
  • Serine-palmitoyl-CoA transferase 1
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000090054

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Disease
Disease Ontology
Displaying entries 1 - 10 of 114 in total
DO ID Disease Name Source
DOID:0050387 nonpapillary renal cell carcinoma
DOID:0050539 Charcot-Marie-Tooth disease type 2
DOID:0050548 hereditary sensory neuropathy
DOID:0050635 alternating hemiplegia of childhood
DOID:0060600 obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum
DOID:0060672 Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
DOID:0060843 hereditary neuropathy with liability to pressure palsies
DOID:0070145 hereditary sensory and autonomic neuropathy type 5
DOID:0070146 hereditary sensory neuropathy type 4
DOID:0070152 hereditary sensory and autonomic neuropathy type 1A
The Human Phenotype Ontology
Displaying entries 1 - 10 of 102 in total
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0000020 Urinary incontinence
HP:0000252 Microcephaly
HP:0000365 Hearing impairment
HP:0000407 Sensorineural hearing impairment
HP:0000518 Cataract
HP:0000605 Supranuclear gaze palsy
HP:0000639 Nystagmus
HP:0000708 Atypical behavior
HP:0000726 Dementia
Displaying all 4 entries
Disease ID Disease Name
OMIM:620285
  • amyotrophic lateral sclerosis 27, juvenile
ORPHA:300605
  • juvenile amyotrophic lateral sclerosis
ORPHA:36386
  • hereditary sensory and autonomic neuropathy type 1
OMIM:162400
  • neuropathy, hereditary sensory and autonomic, type 1A
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP001176
Gene Name
serine palmitoyltransferase, long chain base subunit 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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Last updated: August 19, 2024