gm2a ganglioside GM2 activator [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: gm2aprovided by ZNC
Official Full Name: ganglioside GM2 activatorprovided by ZNC
Primary source: ZFIN:ZDB-GENE-050417-373
See related: Ensembl:ENSDARG00000088439 AllianceGenome:ZFIN:ZDB-GENE-050417-373
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: zgc:110188
Summary: Predicted to enable lipid transporter activity. Predicted to be involved in ganglioside catabolic process and lipid transport. Predicted to be active in cytoplasmic side of plasma membrane. Human ortholog(s) of this gene implicated in GM2 gangliosidosis and GM2 gangliosidosis, AB variant. Orthologous to human GM2A (GM2 ganglioside activator). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 14

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	14	NC_007125.7 (26224541..26227974)
105	previous assembly	GRCz10 (GCF_000002035.5)	14	NC_007125.6 (25927078..25930593)

Chromosome 14 - NC_007125.7 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 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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Markers

fd25c06.y1 (e-PCR)
- UniSTS:195357

fb96e04.x1 (e-PCR)
- UniSTS:203583

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables enzyme activator activity	IEA Inferred from Electronic Annotation more info
enables lipid transporter activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in ganglioside catabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within ganglioside catabolic process	IEA Inferred from Electronic Annotation more info
involved_in lipid transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasmic side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ganglioside GM2 activator

Names: GM2 ganglioside activator

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_001017831.2 → NP_001017831.1 ganglioside GM2 activator precursor

See identical proteins and their annotated locations for NP_001017831.1

Status: VALIDATED

Source sequence(s)

LO018208

UniProtKB/TrEMBL

A0A0R4IJ69, A0A8M2BKE8, A0A8N7XJI4, B2GRV0, Q568N7

Related

ENSDARP00000106218.1, ENSDART00000128971.2

Conserved Domains (1) summary

cl00274
Location:38 → 198

ML; The ML (MD-2-related lipid-recognition) domain is present in MD-1, MD-2, GM2 activator protein, Niemann-Pick type C2 (Npc2) protein, phosphatidylinositol/phosphatidylglycerol transfer protein (PG/PI-TP), mite allergen Der p 2 and several proteins of ...