Description
N-acylsphingosine amidohydrolase (acid ceramidase) 1 [Source:HGNC Symbol;Acc:735]
Gene Synonyms
AC, ACDase, ASAH, FLJ21558, PHP, PHP32, SMAPME
Location
Chromosome 8: 17,913,934-17,942,494 reverse strand.
GRCh37:CM000670.1
About this gene
This gene has 14 transcripts (splice variants), 1 paralogue and is associated with 8 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000381733.4 | ASAH1-002 | 2511 | 411aa | ENSP00000371152.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS6005 | B1B5P6 B1B5P7 B1B5Q0 B1B5R9 Q13510 | NM_004315.4 | 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, |
| ENST00000262097.6 | ASAH1-001 | 2609 | 395aa | ENSP00000262097.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS6006 | B1B5P6 B1B5P7 B1B5Q0 B1B5R9 Q13510 | NM_177924.3 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000520781.1 | ASAH1-004 | 2507 | 370aa | ENSP00000427751.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B1B5P7 B1B5R9 E7EMM4 E7ERV9 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000417108.2 | ASAH1-201 | 2231 | 305aa | ENSP00000394125.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B1B5P7 B1B5R9 E7ERV9 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000314146.10 | ASAH1-003 | 1690 | 389aa | ENSP00000326970.10 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS47813 | B1B5P7 B1B5R9 Q13510 | NM_001127505.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000520051.1 | ASAH1-005 | 793 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000519468.1 | ASAH1-012 | 746 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000519545.1 | ASAH1-011 | 662 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000523593.1 | ASAH1-013 | 559 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000518087.2 | ASAH1-006 | 887 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000517409.1 | ASAH1-008 | 580 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000518746.1 | ASAH1-009 | 579 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000521542.1 | ASAH1-010 | 558 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000523744.1 | ASAH1-014 | 508 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
