smpd1 sphingomyelin phosphodiesterase 1 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: smpd1provided by ZNC
Official Full Name: sphingomyelin phosphodiesterase 1provided by ZNC
Primary source: ZFIN:ZDB-GENE-110411-222
See related: Ensembl:ENSDARG00000076121 AllianceGenome:ZFIN:ZDB-GENE-110411-222
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: si:ch211-287a12.10
Summary: Predicted to enable acid sphingomyelin phosphodiesterase activity. Acts upstream of or within lipid metabolic process and respiratory electron transport chain. Predicted to be located in extracellular region. Predicted to be active in extracellular space and lysosome. Human ortholog(s) of this gene implicated in Niemann-Pick disease; Niemann-Pick disease type A; and Niemann-Pick disease type B. Orthologous to human SMPD1 (sphingomyelin phosphodiesterase 1). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 10

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	10	NC_007121.7 (24710470..24724366, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	10	NC_007121.6 (24741018..24754914, complement)

Chromosome 10 - NC_007121.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity, acting on glycosyl bonds	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables sphingomyelin phosphodiesterase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within lipid metabolic process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within lipid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within respiratory electron transport chain	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within respiratory electron transport chain	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sphingomyelin catabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: sphingomyelin phosphodiesterase

Names: sphingomyelin phosphodiesterase 1, acid lysosomal

NP_001313465.1

EC 3.1.4.12

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001326536.1 → NP_001313465.1 sphingomyelin phosphodiesterase precursor

Status: VALIDATED

Source sequence(s)

AL928852

UniProtKB/TrEMBL

A0A8M1P933

Related

ENSDARP00000124101.1, ENSDART00000148582.2

Conserved Domains (3) summary

smart00741
Location:54 → 127

SapB; Saposin (B) Domains

cd00842
Location:168 → 464

MPP_ASMase; acid sphingomyelinase and related proteins, metallophosphatase domain

pfam00149
Location:221 → 429

Metallophos; Calcineurin-like phosphoesterase