fars2 phenylalanyl-tRNA synthetase 2, mitochondrial [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: fars2provided by ZNC
Official Full Name: phenylalanyl-tRNA synthetase 2, mitochondrialprovided by ZNC
Primary source: ZFIN:ZDB-GENE-070928-38
See related: Ensembl:ENSDARG00000091247 AllianceGenome:ZFIN:ZDB-GENE-070928-38
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: zgc:173439
Summary: Predicted to enable phenylalanine-tRNA ligase activity. Acts upstream of or within neuron projection morphogenesis; swimming behavior; and thigmotaxis. Predicted to be located in mitochondrial matrix. Predicted to be active in mitochondrion. Human ortholog(s) of this gene implicated in combined oxidative phosphorylation deficiency 14 and hereditary spastic paraplegia 77. Orthologous to human FARS2 (phenylalanyl-tRNA synthetase 2, mitochondrial). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 24

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	24	NC_007135.7 (2558169..2736809, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	24	NC_007135.6 (2562125..2740765, complement)

Chromosome 24 - NC_007135.7 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?

FARS2 Deficiency Causes Cardiomyopathy by Disrupting Mitochondrial Homeostasis and the Mitochondrial Quality Control System.
Title: FARS2 Deficiency Causes Cardiomyopathy by Disrupting Mitochondrial Homeostasis and the Mitochondrial Quality Control System.

Submit: New GeneRIF Correction

General gene information

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Markers

fj29h08.y1 (e-PCR)
- UniSTS:199000

Z8969 (e-PCR)
- UniSTS:59741

Z1061 (e-PCR)
- UniSTS:27897

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables aminoacyl-tRNA ligase activity	IEA Inferred from Electronic Annotation more info
enables ligase activity	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables phenylalanine-tRNA ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phenylalanine-tRNA ligase activity	IEA Inferred from Electronic Annotation more info
enables tRNA binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within neuron projection morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phenylalanyl-tRNA aminoacylation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within phenylalanyl-tRNA aminoacylation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within swimming behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within tRNA aminoacylation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within thigmotaxis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within translation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in mitochondrial matrix	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: phenylalanine--tRNA ligase, mitochondrial

NP_001099064.1

EC 6.1.1.20

XP_068073224.1

EC 6.1.1.20

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_001105594.1 → NP_001099064.1 phenylalanine--tRNA ligase, mitochondrial

See identical proteins and their annotated locations for NP_001099064.1

Status: PROVISIONAL

Source sequence(s)

BC153383

UniProtKB/TrEMBL

A8E4Z0

Related

ENSDARP00000136280.1, ENSDART00000171805.2

Conserved Domains (3) summary

smart00896
Location:356 → 448

FDX-ACB; Ferredoxin-fold anticodon binding domain

PLN02788
Location:54 → 448

PLN02788; phenylalanine-tRNA synthetase

cd00496
Location:81 → 336

PheRS_alpha_core; Phenylalanyl-tRNA synthetase (PheRS) alpha chain catalytic core domain. PheRS belongs to class II aminoacyl-tRNA synthetases (aaRS) based upon its structure and the presence of three characteristic sequence motifs. This domain is primarily responsible ...