Cell atlas - MYOF - The Human Protein Atlas

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MYOF

TISSUE

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CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Plasma membrane
	Vesicles

Human cell
	Plasma Membrane
	Vesicles

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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
Summary	Mainly localized to vesicles. In addition localized to the plasma membrane.
RNA cell category	Mixed
Protein evidence	Evidence at protein level
Main location	Localized to the Vesicles (supported)
Additional location	In addition localized to the Plasma membrane (supported)

DATA RELIABILITY
Reliability score	Supported based on 1 antibody. HPA014245
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Mixed Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Mainly localized to vesicles. In addition localized to the plasma membrane.

Main location

Vesicles (supported)

Additional location

Plasma membrane (supported)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA014245	A-431	Vesicles
	HPA014245	U-2 OS	Vesicles
	HPA014245	U-251 MG	Vesicles
	HPA014245	U-251 MG	Plasma membrane

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 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] Show all	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] Show all	445 aa 49.7 kDa	No	0
MYOF-004 ENSP00000351094 ENST00000358334	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:0031410 [cytoplasmic vesicle] GO:0031965 [nuclear membrane] GO:0043231 [intracellular membrane-bounded organelle] GO:0070062 [extracellular exosome] Show all	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

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The Project

The Human Protein Atlas

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