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MYOF myoferlin [ Homo sapiens (human) ]

Gene ID: 26509, updated on 4-Nov-2018

Summary

Official Symbol
MYOFprovided by HGNC
Official Full Name
myoferlinprovided by HGNC
Primary source
HGNC:HGNC:3656
See related
Ensembl:ENSG00000138119 MIM:604603; Vega:OTTHUMG00000018772
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FER1L3
Summary
Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 2008]
Expression
Broad expression in urinary bladder (RPKM 30.9), placenta (RPKM 28.9) and 22 other tissues See more
Orthologs

Genomic context

See MYOF in Genome Data Viewer
Location:
10q23.33
Exon count:
59
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (93306429..93482505, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (95066186..95242190, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene X-ray repair cross complementing 6 pseudogene 1 Neighboring gene ribosomal protein L17 pseudogene 34 Neighboring gene RNA, 5S ribosomal pseudogene 323 Neighboring gene centrosomal protein 55 Neighboring gene uncharacterized LOC105378436

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of myoferlin (MYOF; FER1L3) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Aryl Hydrocarbon Receptor Pathway, organism-specific biosystem (from WikiPathways)
    Aryl Hydrocarbon Receptor Pathway, organism-specific biosystemThe aryl hydrocarbon receptor (AhR) is a transcription factor (part of the group of nuclear receptors) that responds to the presence of aromatic hydrocarbons. It regulates genes involved xenobiotic m...
  • Hepatitis C and Hepatocellular Carcinoma, organism-specific biosystem (from WikiPathways)
    Hepatitis C and Hepatocellular Carcinoma, organism-specific biosystemPathway model based on hub miRNAs and their putative targets from network analysis. - From a set of differentially expressed genes in both chronic HCV (hepatitis C virus) and HCC (hepatocellular carc...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ36571, FLJ90777

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phospholipid binding IDA
Inferred from Direct Assay
more info
PubMed 
phospholipid binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
T-tubule organization IEA
Inferred from Electronic Annotation
more info
 
blood circulation TAS
Traceable Author Statement
more info
PubMed 
cellular response to heat IEA
Inferred from Electronic Annotation
more info
 
glycerol metabolic process IEA
Inferred from Electronic Annotation
more info
 
muscle contraction TAS
Traceable Author Statement
more info
PubMed 
muscle fiber development IEA
Inferred from Electronic Annotation
more info
 
myoblast fusion IEA
Inferred from Electronic Annotation
more info
 
plasma membrane repair ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of vascular endothelial growth factor receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
caveola ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nuclear envelope TAS
Traceable Author Statement
more info
PubMed 
nuclear membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
myoferlin
Names
fer-1-like 3, myoferlin
fer-1-like family member 3
fer-1-like protein 3

NCBI Reference Sequences (RefSeq)

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)

  1. NM_013451.3NP_038479.1  myoferlin isoform a

    See identical proteins and their annotated locations for NP_038479.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the full-length isoform (a).
    Source sequence(s)
    AF182316, AF207990, AL096713, BC033616
    Consensus CDS
    CCDS41551.1
    UniProtKB/Swiss-Prot
    Q9NZM1
    Related
    ENSP00000352208.4, OTTHUMP00000020112, ENST00000359263.8, OTTHUMT00000049423
    Conserved Domains (12) summary
    cd04011
    Location:196305
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11391272
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:359535
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:15541677
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5136
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:17901921
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:927983
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:769841
    FerB; FerB (NUC096) domain
    pfam08151
    Location:303353
    FerI; FerI (NUC094) domain
    pfam08165
    Location:680737
    FerA; FerA (NUC095) domain
    pfam16165
    Location:19372025
    Ferlin_C; Ferlin C-terminus
    cl14603
    Location:13271403
    C2; C2 domain
  2. NM_133337.2NP_579899.1  myoferlin isoform b

    See identical proteins and their annotated locations for NP_579899.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks a 39 nt coding region as compared to transcript variant 1. As a result, variant 2 encodes an isoform (b) that lacks an internal 13 aa segment as compared to isoform a, which is encoded by variant 1.
    Source sequence(s)
    AF182316, AF207990, AL096713, BC033616, BC052617
    Consensus CDS
    CCDS41550.1
    UniProtKB/Swiss-Prot
    Q9NZM1
    Related
    ENSP00000351094.5, OTTHUMP00000020111, ENST00000358334.9, OTTHUMT00000049422
    Conserved Domains (12) summary
    cd04011
    Location:196305
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11261259
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:359522
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:15411664
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5136
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:17771908
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:914970
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:756828
    FerB; FerB (NUC096) domain
    pfam08151
    Location:303353
    FerI; FerI (NUC094) domain
    pfam08165
    Location:667724
    FerA; FerA (NUC095) domain
    pfam16165
    Location:19242012
    Ferlin_C; Ferlin C-terminus
    cl14603
    Location:13141390
    C2; C2 domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    93306429..93482505 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005269694.5XP_005269751.1  myoferlin isoform X2

    Conserved Domains (12) summary
    cd04011
    Location:196305
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11261259
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:359522
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:15601683
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5136
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:17961927
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:914970
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:756828
    FerB; FerB (NUC096) domain
    pfam08151
    Location:303353
    FerI; FerI (NUC094) domain
    pfam08165
    Location:667724
    FerA; FerA (NUC095) domain
    pfam16165
    Location:19432031
    Ferlin_C; Ferlin C-terminus
    cl14603
    Location:13141390
    C2; C2 domain
  2. XM_005269693.4XP_005269750.1  myoferlin isoform X1

    Conserved Domains (12) summary
    cd04011
    Location:196305
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11391272
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:359535
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:15731696
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5136
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18091940
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:927983
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:769841
    FerB; FerB (NUC096) domain
    pfam08151
    Location:303353
    FerI; FerI (NUC094) domain
    pfam08165
    Location:680737
    FerA; FerA (NUC095) domain
    pfam16165
    Location:19562044
    Ferlin_C; Ferlin C-terminus
    cl14603
    Location:13271403
    C2; C2 domain
  3. XM_011539632.2XP_011537934.1  myoferlin isoform X3

    Conserved Domains (12) summary
    cd04011
    Location:178287
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11211254
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:341517
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:15551678
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:12118
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:17911922
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:909965
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:751823
    FerB; FerB (NUC096) domain
    pfam08151
    Location:285335
    FerI; FerI (NUC094) domain
    pfam08165
    Location:662719
    FerA; FerA (NUC095) domain
    pfam16165
    Location:19382026
    Ferlin_C; Ferlin C-terminus
    cl14603
    Location:13091385
    C2; C2 domain
  4. XM_017016069.1XP_016871558.1  myoferlin isoform X4

    Conserved Domains (11) summary
    cd04011
    Location:54163
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:9971130
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:217393
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:14311554
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08374
    Location:16671798
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:785841
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:627699
    FerB; FerB (NUC096) domain
    pfam08151
    Location:161211
    FerI; FerI (NUC094) domain
    pfam08165
    Location:538595
    FerA; FerA (NUC095) domain
    pfam16165
    Location:18141902
    Ferlin_C; Ferlin C-terminus
    cl14603
    Location:11851261
    C2; C2 domain
  5. XM_017016068.2XP_016871557.1  myoferlin isoform X4

    Conserved Domains (11) summary
    cd04011
    Location:54163
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:9971130
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:217393
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:14311554
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08374
    Location:16671798
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:785841
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:627699
    FerB; FerB (NUC096) domain
    pfam08151
    Location:161211
    FerI; FerI (NUC094) domain
    pfam08165
    Location:538595
    FerA; FerA (NUC095) domain
    pfam16165
    Location:18141902
    Ferlin_C; Ferlin C-terminus
    cl14603
    Location:11851261
    C2; C2 domain
  6. XM_017016070.2XP_016871559.1  myoferlin isoform X5

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