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), 199 orthologues, 2 paralogues and is associated with 6 phenotypes.
Transcripts
| 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 | - | - | - |
