Gene: SPTLC1 ENSG00000090054

Description

serine palmitoyltransferase, long chain base subunit 1 [Source:HGNC Symbol;Acc:11277]

Gene Synonyms

HSAN1, HSN1, LBC1, LCB1, SPT1, SPTI, hLCB1

Location

Chromosome 9: 94,794,281-94,877,666 reverse strand.

GRCh37:CM000671.1

About this gene

This gene has 7 transcripts (splice variants) and is associated with 3 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000262554.2	SPTLC1-001	1894	473aa	ENSP00000262554.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS6692	B4DR90 O15269	NM_006415.3	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000337841.4	SPTLC1-002	946	143aa	ENSP00000337635.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS6693	O15269	NM_178324.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000482632.1	SPTLC1-006	837	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000461132.1	SPTLC1-005	808	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000488921.1	SPTLC1-004	686	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000469778.1	SPTLC1-008	490	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000477888.1	SPTLC1-007	359	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

EMBL-EBI User Survey 2024

Gene: SPTLC1 ENSG00000090054

Summary

EMBL-EBI User Survey 2024

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Gene: SPTLC1 ENSG00000090054

Summary