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MYOF myoferlin [ Homo sapiens (human) ]

Gene ID: 26509, updated on 3-Nov-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

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Comprehensive Analysis of Myoferlin in Human Pancreatic Cancer via Bioinformatics. Pi R, et al. Biomed Res Int, 2021. PMID 34957301, Free PMC Article
  2. 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
  3. 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
  4. Myoferlin controls mitochondrial structure and activity in pancreatic ductal adenocarcinoma, and affects tumor aggressiveness. Rademaker G, et al. Oncogene, 2018 Aug. PMID 29720728, 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 (122) 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)

Genotypes

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

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