Gene: ASAH1 ENSG00000104763

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

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000381733.4	ASAH1-002	2511	411aa	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	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	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	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	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		-	-	-

Summary

Name

ASAH1 (HGNC Symbol)

UniProtKB

This gene has proteins that correspond to the following UniProtKB identifiers: Q13510

CCDS

This gene is a member of the Human CCDS set: CCDS47813.1, CCDS6005.1, CCDS6006.1

Ensembl version

ENSG00000104763.13

Other assemblies

This gene maps to 18,056,425-18,084,985 in GRCh38 coordinates.

Gene type

Protein coding

Annotation method

Annotation for this gene includes both automatic annotation from Ensembl and Havana manual curation, see article.

Alternative genes

This gene corresponds to the following database identifiers:

Havana gene:	OTTHUMG00000096997 (version 6)

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Gene: ASAH1 ENSG00000104763

Summary