myof myoferlin [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: myofprovided by ZNC
Official Full Name: myoferlinprovided by ZNC
Primary source: ZFIN:ZDB-GENE-040426-1138
See related: Ensembl:ENSDARG00000006112 AllianceGenome:ZFIN:ZDB-GENE-040426-1138
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:63504
Summary: Predicted to enable metal ion binding activity. Predicted to be involved in T-tubule organization; membrane fusion; and plasma membrane repair. Predicted to be located in cytoplasmic vesicle membrane and plasma membrane. Used to study limb-girdle muscular dystrophy. Human ortholog(s) of this gene implicated in hereditary angioedema. Orthologous to human MYOF (myoferlin). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: all
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Genomic context

Location:: chromosome: 12

Exon count:: 54

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	12	NC_007123.7 (10517473..10567189, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	12	NC_007123.6 (10479630..10529393, complement)

Chromosome 12 - NC_007123.7 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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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in T-tubule organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in membrane fusion	IBA Inferred from Biological aspect of Ancestor more info
involved_in plasma membrane repair	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: myoferlin

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_200875.2 → NP_957169.2 myoferlin

Status: VALIDATED

Source sequence(s)

CR388227

UniProtKB/TrEMBL

A0A8M1PDL4, F1QZG1

Related

ENSDARP00000117746.1, ENSDART00000144283.3

Conserved Domains (12) summary

cd04011
Location:187 → 296

C2B_Ferlin; C2 domain second repeat in Ferlin

cd04017
Location:1108 → 1242

C2D_Ferlin; C2 domain fourth repeat in Ferlin

cd04018
Location:350 → 513

C2C_Ferlin; C2 domain third repeat in Ferlin

cd04037
Location:1524 → 1647

C2E_Ferlin; C2 domain fifth repeat in Ferlin

cd08373
Location:6 → 136

C2A_Ferlin; C2 domain first repeat in Ferlin

cd08374
Location:1760 → 1891

C2F_Ferlin; C2 domain sixth repeat in Ferlin

smart00693
Location:837 → 892

DysFN; Dysferlin domain, N-terminal region

pfam08150
Location:747 → 819

FerB; FerB (NUC096) domain

pfam08151
Location:294 → 344

FerI; FerI (NUC094) domain

pfam08165
Location:657 → 715

FerA; FerA (NUC095) domain

pfam16165
Location:1908 → 1994

Ferlin_C; Ferlin C-terminus

cl14603
Location:1290 → 1373

C2; C2 domain