fktn fukutin [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: fktnprovided by ZNC
Official Full Name: fukutinprovided by ZNC
Primary source: ZFIN:ZDB-GENE-070410-96
See related: Ensembl:ENSDARG00000059437 AllianceGenome:ZFIN:ZDB-GENE-070410-96
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: fcmd; im:7163166; zgc:162828
Summary: Acts upstream of or within muscle cell development; regulation of protein glycosylation; and vasculogenesis. Predicted to be active in Golgi membrane. Is expressed in several structures, including brain; cloacal chamber; fin bud; myotome; and shield. Human ortholog(s) of this gene implicated in dilated cardiomyopathy (multiple) and muscular dystrophy (multiple). Orthologous to human FKTN (fukutin). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 5

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	5	NC_007116.7 (69907815..69924642, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	5	NC_007116.6 (69135263..69152090, complement)

Chromosome 5 - NC_007116.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Fukutin and FKRP have functions that affect ocular development in zebrafish independently of dystroglycan.
Title: Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency.
Muscle pathology in embryos lacking Fukutin or FKRP is different from loss of dystroglycan; knockdown of Fukutin or FKRP leads to a notochord defect and a perturbation of laminin expression before muscle degeneration.
Title: Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies.

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General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within muscle cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein glycosylation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of protein glycosylation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within vasculogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in Golgi membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ribitol-5-phosphate transferase FKTN

Names: Fukuyama type congenital muscular dystrophy (fukutin)

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_001042694.2 → NP_001036159.2 ribitol-5-phosphate transferase FKTN

See identical proteins and their annotated locations for NP_001036159.2

Status: PROVISIONAL

Source sequence(s)

BC134110

UniProtKB/TrEMBL

A3KP10

Related

ENSDARP00000077038.4, ENSDART00000082603.5

Conserved Domains (1) summary

cl01378
Location:291 → 324

LicD; LicD family

RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCz11 Primary Assembly

Genomic

NC_007116.7 Reference GRCz11 Primary Assembly

Range

69907815..69924642 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_021475968.2 → XP_021331643.1 ribitol-5-phosphate transferase FKTN isoform X1

UniProtKB/TrEMBL

A0A8M9PWZ8

Conserved Domains (1) summary

cl01378
Location:291 → 324

LicD; LicD family