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    MYOF myoferlin [ Homo sapiens (human) ]

    Gene ID: 26509, updated on 10-Dec-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See MYOF in Genome Data Viewer
    Location:
    10q23.33
    Exon count:
    59
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (93306429..93482334, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (94186401..94362329, complement)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. High expression of myoferlin is associated with poor outcome in oropharyngeal squamous cell carcinoma patients and is inversely associated with HPV-status. Kumar B, et al. Oncotarget, 2016 Apr 5. PMID 26919244, Free PMC Article
    2. Prognostic significance of immunohistochemical staining for myoferlin in clear cell renal cell carcinoma and its association with epidermal growth factor receptor expression. Jung M, et al. Urol Oncol, 2019 Nov. PMID 31421995
    3. Identification of Myoferlin Expression for Prediction of Subsequent Primary Malignancy in Patients With Clear Cell Renal Cell Carcinoma. Koh HM, et al. In Vivo, 2019 Jul-Aug. PMID 31280198, Free PMC Article
    4. Mechanistic modeling of the effects of myoferlin on tumor cell invasion. Eisenberg MC, et al. Proc Natl Acad Sci U S A, 2011 Dec 13. PMID 22135466, Free PMC Article
    5. Myoferlin, a Membrane Protein with Emerging Oncogenic Roles. Dong Y, et al. Biomed Res Int, 2019. PMID 31828126, Free PMC Article

    See all (123) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of myoferlin as a mitochondria-associated membranes component required for calcium signaling in PDAC cell lines.
      Title: Identification of myoferlin as a mitochondria-associated membranes component required for calcium signaling in PDAC cell lines.
    2. A missense variant in MYOF is associated with ARVC and sudden cardiac death.
      Title: A missense variant in MYOF is associated with ARVC and sudden cardiac death.
    3. Tetraspanin CD82 Associates with Trafficking Vesicle in Muscle Cells and Binds to Dysferlin and Myoferlin.
      Title: Tetraspanin CD82 Associates with Trafficking Vesicle in Muscle Cells and Binds to Dysferlin and Myoferlin.
    4. HBZ upregulates myoferlin expression to facilitate HTLV-1 infection.
      Title: HBZ upregulates myoferlin expression to facilitate HTLV-1 infection.
    5. Impairment of APPL1/Myoferlin facilitates adipogenic differentiation of mesenchymal stem cells by blocking autophagy flux in osteoporosis.
      Title: Impairment of APPL1/Myoferlin facilitates adipogenic differentiation of mesenchymal stem cells by blocking autophagy flux in osteoporosis.
    6. Comprehensive Analysis of Myoferlin in Human Pancreatic Cancer via Bioinformatics.
      Title: Comprehensive Analysis of Myoferlin in Human Pancreatic Cancer via Bioinformatics.
    7. Lysosomal retargeting of Myoferlin mitigates membrane stress to enable pancreatic cancer growth.
      Title: Lysosomal retargeting of Myoferlin mitigates membrane stress to enable pancreatic cancer growth.
    8. PINCH-1 interacts with myoferlin to promote breast cancer progression and metastasis.
      Title: PINCH-1 interacts with myoferlin to promote breast cancer progression and metastasis.
    9. Myoferlin silencing inhibits VEGFR2-mediated proliferation of metastatic clear cell renal cell carcinoma.
      Title: Myoferlin silencing inhibits VEGFR2-mediated proliferation of metastatic clear cell renal cell carcinoma.
    10. Prognostic significance of immunohistochemical staining for myoferlin in clear cell renal cell carcinoma and its association with epidermal growth factor receptor expression.
      Title: Prognostic significance of immunohistochemical staining for myoferlin in clear cell renal cell carcinoma and its association with epidermal growth factor receptor expression.
    Submit: New GeneRIF Correction See all GeneRIFs (39)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Angioedema, hereditary, 7
    MedGen: C5543526 OMIM: 619366 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

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

    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)

    1. NM_013451.4 → NP_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:196 → 305
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1139 → 1272
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:359 → 535
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1554 → 1677
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5 → 136
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1790 → 1921
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:927 → 983
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:769 → 841
      FerB; FerB (NUC096) domain
      pfam08151
      Location:303 → 353
      FerI; FerI (NUC094) domain
      pfam08165
      Location:680 → 737
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1937 → 2025
      Ferlin_C; Ferlin C-terminus
      cl14603
      Location:1327 → 1403
      C2; C2 domain

    2. NM_133337.3 → NP_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:196 → 305
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1126 → 1259
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:359 → 522
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1541 → 1664
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5 → 136
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1777 → 1908
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:914 → 970
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:756 → 828
      FerB; FerB (NUC096) domain
      pfam08151
      Location:303 → 353
      FerI; FerI (NUC094) domain
      pfam08165
      Location:667 → 724
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1924 → 2012
      Ferlin_C; Ferlin C-terminus
      cl14603
      Location:1314 → 1390
      C2; C2 domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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_047425049.1 → XP_047281005.1  myoferlin isoform X4

    2. XM_005269694.6 → XP_005269751.1  myoferlin isoform X2

      Conserved Domains (12) summary
      cd04011
      Location:196 → 305
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1126 → 1259
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:359 → 522
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1560 → 1683
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5 → 136
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1796 → 1927
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:914 → 970
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:756 → 828
      FerB; FerB (NUC096) domain
      pfam08151
      Location:303 → 353
      FerI; FerI (NUC094) domain
      pfam08165
      Location:667 → 724
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1943 → 2031
      Ferlin_C; Ferlin C-terminus
      cl14603
      Location:1314 → 1390
      C2; C2 domain

    3. XM_005269693.5 → XP_005269750.1  myoferlin isoform X1

      Conserved Domains (12) summary
      cd04011
      Location:196 → 305
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1139 → 1272
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:359 → 535
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1573 → 1696
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5 → 136
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1809 → 1940
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:927 → 983
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:769 → 841
      FerB; FerB (NUC096) domain
      pfam08151
      Location:303 → 353
      FerI; FerI (NUC094) domain
      pfam08165
      Location:680 → 737
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1956 → 2044
      Ferlin_C; Ferlin C-terminus
      cl14603
      Location:1327 → 1403
      C2; C2 domain

    4. XM_047425048.1 → XP_047281004.1  myoferlin isoform X3

    5. XM_017016069.2 → XP_016871558.1  myoferlin isoform X4

      Conserved Domains (11) summary
      cd04011
      Location:54 → 163
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:997 → 1130
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:217 → 393
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1431 → 1554
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08374
      Location:1667 → 1798
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:785 → 841
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:627 → 699
      FerB; FerB (NUC096) domain
      pfam08151
      Location:161 → 211
      FerI; FerI (NUC094) domain
      pfam08165
      Location:538 → 595
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1814 → 1902
      Ferlin_C; Ferlin C-terminus
      cl14603
      Location:1185 → 1261
      C2; C2 domain

    6. XM_017016068.3 → XP_016871557.1  myoferlin isoform X4

      Conserved Domains (11) summary
      cd04011
      Location:54 → 163
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:997 → 1130
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:217 → 393
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1431 → 1554
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08374
      Location:1667 → 1798
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:785 → 841
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:627 → 699
      FerB; FerB (NUC096) domain
      pfam08151
      Location:161 → 211
      FerI; FerI (NUC094) domain
      pfam08165
      Location:538 → 595
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1814 → 1902
      Ferlin_C; Ferlin C-terminus
      cl14603
      Location:1185 → 1261
      C2; C2 domain

    7. XM_047425050.1 → XP_047281006.1  myoferlin isoform X5

    8. XM_017016070.3 → XP_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_054365539.1 → XP_054221514.1  myoferlin isoform X4

    2. XM_054365536.1 → XP_054221511.1  myoferlin isoform X2

    3. XM_054365535.1 → XP_054221510.1  myoferlin isoform X1

    4. XM_054365537.1 → XP_054221512.1  myoferlin isoform X3

    5. XM_054365541.1 → XP_054221516.1  myoferlin isoform X4

    6. XM_054365538.1 → XP_054221513.1  myoferlin isoform X4

    7. XM_054365540.1 → XP_054221515.1  myoferlin isoform X5

    8. XM_054365542.1 → XP_054221517.1  myoferlin isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NZM1.1 GenPept UniProtKB/Swiss-Prot:Q9NZM1

    Gene LinkOut

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