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    MYOF myoferlin [ Homo sapiens (human) ]

    Gene ID: 26509, updated on 26-Feb-2024

    Summary

    Official Symbol
    MYOFprovided by HGNC
    Official Full Name
    myoferlinprovided by HGNC
    Primary source
    HGNC:HGNC:3656
    See related
    Ensembl:ENSG00000138119 MIM:604603; AllianceGenome:HGNC:3656
    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
    HAE7; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MYOF in Genome Data Viewer
    Location:
    10q23.33
    Exon count:
    59
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (93306429..93482334, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (94186401..94362329, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (95066186..95242091, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 1522 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:94971549-94972076 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:94972077-94972602 Neighboring gene Sharpr-MPRA regulatory region 9432 Neighboring gene X-ray repair cross complementing 6 pseudogene 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:94998327-94998890 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:94998891-94999453 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2627 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:95032253-95032820 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:95032821-95033387 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:95033388-95033954 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:95036319-95037196 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:95040553-95041220 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:95041221-95041890 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:95041891-95042559 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:95048576-95049775 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:95049831-95050331 Neighboring gene ribosomal protein L17 pseudogene 34 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:95093669-95094868 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:95143327-95143828 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:95143829-95144328 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:95166463-95166962 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:95195537-95196098 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:95196661-95197860 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:95219557-95220179 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:95229071-95229920 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2628 Neighboring gene Sharpr-MPRA regulatory region 3496 Neighboring gene RNA, 5S ribosomal pseudogene 323 Neighboring gene centrosomal protein 55 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2629 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:95315968-95316468 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What'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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ36571, FLJ90777

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phospholipid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phospholipid binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in blood circulation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in muscle contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in plasma membrane repair ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of neurotransmitter secretion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in caveola ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
     
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in nuclear envelope TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in nuclear membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    is_active_in synaptic vesicle membrane IBA
    Inferred from Biological aspect of Ancestor
    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)

    NEW Try the new Transcript table

    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_013451.4NP_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)
      AL360229, AL365364
      Consensus CDS
      CCDS41551.1
      UniProtKB/Swiss-Prot
      B3KQN5, Q5VWW2, Q5VWW3, Q5VWW4, Q5VWW5, Q7Z642, Q8IWH0, Q9HBU3, Q9NZM0, Q9NZM1, Q9ULL3, Q9Y4U4
      Related
      ENSP00000352208.4, ENST00000359263.9
      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_133337.3NP_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)
      AL360229, AL365364
      Consensus CDS
      CCDS41550.1
      UniProtKB/Swiss-Prot
      Q9NZM1
      Related
      ENSP00000351094.5, ENST00000358334.9
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      93306429..93482334 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425049.1XP_047281005.1  myoferlin isoform X4

    2. XM_005269694.6XP_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
    3. XM_005269693.5XP_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
    4. XM_047425048.1XP_047281004.1  myoferlin isoform X3

    5. XM_017016069.2XP_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
    6. XM_017016068.3XP_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
    7. XM_047425050.1XP_047281006.1  myoferlin isoform X5

    8. XM_017016070.3XP_016871559.1  myoferlin isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      94186401..94362329 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365539.1XP_054221514.1  myoferlin isoform X4

    2. XM_054365536.1XP_054221511.1  myoferlin isoform X2

    3. XM_054365535.1XP_054221510.1  myoferlin isoform X1

    4. XM_054365537.1XP_054221512.1  myoferlin isoform X3

    5. XM_054365541.1XP_054221516.1  myoferlin isoform X4

    6. XM_054365538.1XP_054221513.1  myoferlin isoform X4

    7. XM_054365540.1XP_054221515.1  myoferlin isoform X5

    8. XM_054365542.1XP_054221517.1  myoferlin isoform X6