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MYOF

GENERAL INFORMATION

Gene name

 MYOF

Gene description

 Myoferlin

Protein class

 Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

 Intracellular,Membrane

Number of transcripts

 4
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Expressed in all
HPA (cell line):Mixed
HPA (normal tissue):Mixed

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 Cytoplasmic and membranous expression in most tissues.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
HPA014245
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PROGNOSTIC SUMMARY
Prognostic marker in pancreatic cancer (unfavourable).
Pancreatic cancer p<0.001
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Expressed in all

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA014245

GENE INFORMATION

Gene name

 MYOF (HGNC Symbol)

Synonyms

 FER1L3, KIAA1207

Description

 Myoferlin (HGNC Symbol)

Entrez gene 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]

Chromosome

 10

Cytoband

 q23.33

Chromosome location (bp)

 93306429 - 93482317

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000138119 (version 83.38)

Entrez gene

 26509

UniProt

 Q9NZM1 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9NZM1

Antibodypedia

 MYOF antibodies

PROTEIN BROWSER
MYOF-002
MYOF-003
MYOF-004
MYOF-005

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
MYOF-002
ENSP00000360543
ENST00000371488
Q9NZM1 [Direct mapping]
Myoferlin
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Predicted intracellular proteins
Plasma proteins
Protein evidence (Ezkurdia et al 2014)
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GO:0001778 [plasma membrane repair]
GO:0005515 [protein binding]
GO:0005543 [phospholipid binding]
GO:0005635 [nuclear envelope]
GO:0005886 [plasma membrane]
GO:0005901 [caveola]
GO:0006936 [muscle contraction]
GO:0008015 [blood circulation]
GO:0016021 [integral component of membrane]
GO:0030659 [cytoplasmic vesicle membrane]
GO:0031410 [cytoplasmic vesicle]
GO:0031965 [nuclear membrane]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0070062 [extracellular exosome]
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 160 aa
17.1 kDa 		No 0
MYOF-003
ENSP00000360544
ENST00000371489
Q9NZM1 [Direct mapping]
Myoferlin
Show all
Predicted intracellular proteins
Plasma proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001778 [plasma membrane repair]
GO:0005515 [protein binding]
GO:0005543 [phospholipid binding]
GO:0005635 [nuclear envelope]
GO:0005886 [plasma membrane]
GO:0005901 [caveola]
GO:0006936 [muscle contraction]
GO:0008015 [blood circulation]
GO:0016021 [integral component of membrane]
GO:0030659 [cytoplasmic vesicle membrane]
GO:0031410 [cytoplasmic vesicle]
GO:0031965 [nuclear membrane]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0070062 [extracellular exosome]
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 445 aa
49.7 kDa 		No 0
MYOF-004
ENSP00000351094
ENST00000358334
Q9NZM1 [Direct mapping]
Myoferlin
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Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Plasma proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001778 [plasma membrane repair]
GO:0005515 [protein binding]
GO:0005543 [phospholipid binding]
GO:0005635 [nuclear envelope]
GO:0005886 [plasma membrane]
GO:0005901 [caveola]
GO:0006936 [muscle contraction]
GO:0008015 [blood circulation]
GO:0016021 [integral component of membrane]
GO:0030659 [cytoplasmic vesicle membrane]
GO:0031410 [cytoplasmic vesicle]
GO:0031965 [nuclear membrane]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0070062 [extracellular exosome]
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 2048 aa
233.5 kDa 		No 1
MYOF-005
ENSP00000352208
ENST00000359263
Q9NZM1 [Direct mapping]
Myoferlin
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Plasma proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001778 [plasma membrane repair]
GO:0005515 [protein binding]
GO:0005543 [phospholipid binding]
GO:0005635 [nuclear envelope]
GO:0005886 [plasma membrane]
GO:0005901 [caveola]
GO:0006936 [muscle contraction]
GO:0008015 [blood circulation]
GO:0016021 [integral component of membrane]
GO:0030659 [cytoplasmic vesicle membrane]
GO:0030947 [regulation of vascular endothelial growth factor receptor signaling pathway]
GO:0031410 [cytoplasmic vesicle]
GO:0031965 [nuclear membrane]
GO:0034605 [cellular response to heat]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0070062 [extracellular exosome]
Show all
 2061 aa
234.7 kDa 		No 1

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.