Gene: SMPD1 ENSG00000166311

Description

sphingomyelin phosphodiesterase 1, acid lysosomal [Source:HGNC Symbol;Acc:11120]

Gene Synonyms

ASM, ASMASE, NPD

Location

Chromosome 11: 6,411,655-6,416,228 forward strand.

GRCh37:CM000673.1

About this gene

This gene has 12 transcripts (splice variants), 2 paralogues and is associated with 6 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000342245.4	SMPD1-001	2452	631aa	ENSP00000340409.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS44531	E9PL59 P17405	NM_001007593.2	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, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000299397.3	SMPD1-201	2326	587aa	ENSP00000299397.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PL59 G3XAB5	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000356761.2	SMPD1-202	2290	575aa	ENSP00000349203.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E7EWE2 E9PL59	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000527275.1	SMPD1-008	2188	630aa	ENSP00000435350.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS31409	E9PL59 P17405	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000526280.1	SMPD1-004	1344	317aa	ENSP00000436278.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PL59	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000530395.1	SMPD1-009	447	52aa	ENSP00000431479.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PL59	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000534405.1	SMPD1-007	2446	402aa	ENSP00000434353.1	Nonsense mediated decay		E9LUE9 E9PL59 E9PQT3	-	-
ENST00000533123.1	SMPD1-002	2211	366aa	ENSP00000435950.1	Nonsense mediated decay		E9PL59 G3V1E1 Q8IUN0	-	-
ENST00000531303.1	SMPD1-003	1451	171aa	ENSP00000432625.1	Nonsense mediated decay		E9PPK6	-	-
ENST00000533196.1	SMPD1-010	425	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000531336.1	SMPD1-006	650	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000532367.1	SMPD1-005	409	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Gene: SMPD1 ENSG00000166311

Summary