SPTLC1

GENERAL INFORMATION

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Gene name

SPTLC1

Gene description

Serine palmitoyltransferase, long chain base subunit 1

Protein class

Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted membrane proteins

Predicted localization

Membrane

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

General cytoplasmic expression with varying intensity.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA010860 , CAB018747
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Skin



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

SPTLC1 (HGNC Symbol)

Synonyms

hLCB1, HSAN1, HSN1, LCB1, SPTI

Description

Serine palmitoyltransferase, long chain base subunit 1 (HGNC Symbol)

Entrez gene summary

This gene encodes a member of the class-II pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is the long chain base subunit 1 of serine palmitoyltransferase. Serine palmitoyltransferase converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5'-phosphate and is the key enzyme in sphingolipid biosynthesis. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified. Pseudogenes of this gene have been defined on chromosomes 1, 6, 10, and 13. [provided by RefSeq, Jul 2013]

Chromosome

9

Cytoband

q22.31

Chromosome location (bp)

92031999 - 92115384

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000090054 (version 78.38)

Entrez gene

10558

UniProt

O15269 (UniProt - Evidence at protein level)

neXtProt

NX_O15269

Antibodypedia

SPTLC1 antibodies


PROTEIN BROWSER

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ENST00000262554
 
ENST00000337841
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SPTLC1-001 ENSP00000262554
ENST00000262554
O15269
Show all »
Show » Show » 473 52.7 No 2
SPTLC1-002 ENSP00000337635
ENST00000337841
O15269
Show all »
Show » Show » 143 16.1 No 1