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DYSF

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GENERAL INFORMATION

Gene name

 DYSF

Gene description

 Dysferlin

Protein class

 Disease related genes
Potential drug targets
Predicted membrane proteins
Transporters

Predicted localization

 Membrane

Number of transcripts

 11
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

Summary

 Localized to the plasma membrane & microtubule organizing center.

RNA cell category

 Group enriched (RH-30, HUVEC TERT2, LHCN-M2, TIME)

Protein evidence

 Evidence at protein level

Main location

 Localized to the Plasma membrane (supported), Microtubule organizing center (approved)

Single-cell variation

 Single-cell variation in protein expression observed.

DATA RELIABILITY

Reliability score

 Supported based on 1 antibody.
HPA017071
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ASSAYS
RNA expression
Human cells

RNA EXPRESSION OVERVIEW
RNA cell line category: Group enriched (RH-30, HUVEC TERT2, LHCN-M2, TIME)
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

HUMAN CELLS

Summary

 Localized to the plasma membrane & microtubule organizing center.

Main location

 Plasma membrane (supported), Microtubule organizing center (approved)

 

 

 
Toggle channels
Low
High
G1
S
G2
M
N/A

Thumbnail

Antibody

Cell line

Location

Single-cell variation

Cell cycle dependent variation
HPA017071 RH-30 Plasma membrane Intensity
Microtubule organizing center
HPA017071 U-2 OS No staining    

GENE INFORMATION

Gene name

 DYSF (HGNC Symbol)

Synonyms

 FER1L1, LGMD2B

Description

 Dysferlin (HGNC Symbol)

Entrez gene summary

 The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]

Chromosome

 2

Cytoband

 p13.2

Chromosome location (bp)

 71453722 - 71686768

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000135636 (version 83.38)

Entrez gene

 8291

UniProt

 O75923 (UniProt - Evidence at protein level)

neXtProt

 NX_O75923

Antibodypedia

 DYSF antibodies

PROTEIN BROWSER
«
DYSF-001
DYSF-002
DYSF-003
DYSF-004
DYSF-005
DYSF-006
DYSF-007
DYSF-009
DYSF-011
DYSF-020
DYSF-021
»

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
DYSF-001
ENSP00000258104
ENST00000258104
O75923 [Direct mapping]
Dysferlin
Show all
Transporters
   Transporter channels and pores
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
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005543 [phospholipid binding]
GO:0005544 [calcium-dependent phospholipid binding]
GO:0005768 [endosome]
GO:0005769 [early endosome]
GO:0005770 [late endosome]
GO:0005886 [plasma membrane]
GO:0016021 [integral component of membrane]
GO:0030139 [endocytic vesicle]
GO:0030315 [T-tubule]
GO:0030659 [cytoplasmic vesicle membrane]
GO:0042383 [sarcolemma]
GO:0070062 [extracellular exosome]
Show all
 2080 aa
237.3 kDa 		No 1
DYSF-002
ENSP00000386683
ENST00000409651
O75923 [Direct mapping]
Dysferlin
Show all
Transporters
   Transporter channels and pores
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
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005543 [phospholipid binding]
GO:0005544 [calcium-dependent phospholipid binding]
GO:0005768 [endosome]
GO:0005769 [early endosome]
GO:0005770 [late endosome]
GO:0005886 [plasma membrane]
GO:0016021 [integral component of membrane]
GO:0030139 [endocytic vesicle]
GO:0030315 [T-tubule]
GO:0030659 [cytoplasmic vesicle membrane]
GO:0042383 [sarcolemma]
GO:0070062 [extracellular exosome]
Show all
 2112 aa
240.7 kDa 		No 1
DYSF-003
ENSP00000377678
ENST00000394120
O75923 [Direct mapping]
Dysferlin
Show all
Transporters
   Transporter channels and pores
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
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005543 [phospholipid binding]
GO:0005544 [calcium-dependent phospholipid binding]
GO:0005768 [endosome]
GO:0005769 [early endosome]
GO:0005770 [late endosome]
GO:0005886 [plasma membrane]
GO:0016021 [integral component of membrane]
GO:0030139 [endocytic vesicle]
GO:0030315 [T-tubule]
GO:0030659 [cytoplasmic vesicle membrane]
GO:0042383 [sarcolemma]
GO:0070062 [extracellular exosome]
Show all
 2081 aa
237.4 kDa 		No 1
DYSF-004
ENSP00000387137
ENST00000409762
O75923 [Direct mapping]
Dysferlin
Show all
Transporters
   Transporter channels and pores
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
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005543 [phospholipid binding]
GO:0005544 [calcium-dependent phospholipid binding]
GO:0005768 [endosome]
GO:0005769 [early endosome]
GO:0005770 [late endosome]
GO:0005886 [plasma membrane]
GO:0016021 [integral component of membrane]
GO:0030139 [endocytic vesicle]
GO:0030315 [T-tubule]
GO:0030659 [cytoplasmic vesicle membrane]
GO:0042383 [sarcolemma]
GO:0070062 [extracellular exosome]
Show all
 2097 aa
239.3 kDa 		No 1
DYSF-005
ENSP00000386285
ENST00000409744
O75923 [Direct mapping]
Dysferlin
Show all
Transporters
   Transporter channels and pores
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
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005543 [phospholipid binding]
GO:0005544 [calcium-dependent phospholipid binding]
GO:0005768 [endosome]
GO:0005769 [early endosome]
GO:0005770 [late endosome]
GO:0005886 [plasma membrane]
GO:0016021 [integral component of membrane]
GO:0030139 [endocytic vesicle]
GO:0030315 [T-tubule]
GO:0030659 [cytoplasmic vesicle membrane]
GO:0042383 [sarcolemma]
GO:0070062 [extracellular exosome]
Show all
 2088 aa
238 kDa 		No 1
DYSF-006
ENSP00000386512
ENST00000409366
O75923 [Direct mapping]
Dysferlin
Show all
Transporters
   Transporter channels and pores
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
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005543 [phospholipid binding]
GO:0005544 [calcium-dependent phospholipid binding]
GO:0005768 [endosome]
GO:0005769 [early endosome]
GO:0005770 [late endosome]
GO:0005886 [plasma membrane]
GO:0016021 [integral component of membrane]
GO:0030139 [endocytic vesicle]
GO:0030315 [T-tubule]
GO:0030659 [cytoplasmic vesicle membrane]
GO:0042383 [sarcolemma]
GO:0070062 [extracellular exosome]
Show all
 2102 aa
239.4 kDa 		No 1
DYSF-007
ENSP00000386881
ENST00000410020
O75923 [Direct mapping]
Dysferlin
Show all
Transporters
   Transporter channels and pores
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
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001778 [plasma membrane repair]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005543 [phospholipid binding]
GO:0005544 [calcium-dependent phospholipid binding]
GO:0005768 [endosome]
GO:0005769 [early endosome]
GO:0005770 [late endosome]
GO:0005886 [plasma membrane]
GO:0006906 [vesicle fusion]
GO:0016021 [integral component of membrane]
GO:0030027 [lamellipodium]
GO:0030139 [endocytic vesicle]
GO:0030315 [T-tubule]
GO:0030659 [cytoplasmic vesicle membrane]
GO:0031410 [cytoplasmic vesicle]
GO:0042383 [sarcolemma]
GO:0070062 [extracellular exosome]
Show all
 2119 aa
241.4 kDa 		No 1
DYSF-009
ENSP00000386617
ENST00000410041
O75923 [Direct mapping]
Dysferlin
Show all
Transporters
   Transporter channels and pores
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
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005543 [phospholipid binding]
GO:0005544 [calcium-dependent phospholipid binding]
GO:0005768 [endosome]
GO:0005769 [early endosome]
GO:0005770 [late endosome]
GO:0005886 [plasma membrane]
GO:0016021 [integral component of membrane]
GO:0030139 [endocytic vesicle]
GO:0030315 [T-tubule]
GO:0030659 [cytoplasmic vesicle membrane]
GO:0042383 [sarcolemma]
GO:0070062 [extracellular exosome]
Show all
 2098 aa
239.4 kDa 		No 1
DYSF-011
ENSP00000386547
ENST00000409582
O75923 [Direct mapping]
Dysferlin
Show all
Transporters
   Transporter channels and pores
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
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005543 [phospholipid binding]
GO:0005544 [calcium-dependent phospholipid binding]
GO:0005768 [endosome]
GO:0005769 [early endosome]
GO:0005770 [late endosome]
GO:0005886 [plasma membrane]
GO:0016021 [integral component of membrane]
GO:0030139 [endocytic vesicle]
GO:0030315 [T-tubule]
GO:0030659 [cytoplasmic vesicle membrane]
GO:0042383 [sarcolemma]
GO:0070062 [extracellular exosome]
Show all
 2118 aa
241.3 kDa 		No 1
DYSF-020
ENSP00000398305
ENST00000429174
O75923 [Direct mapping]
Dysferlin
Show all
Transporters
   Transporter channels and pores
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
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005543 [phospholipid binding]
GO:0005544 [calcium-dependent phospholipid binding]
GO:0005768 [endosome]
GO:0005769 [early endosome]
GO:0005770 [late endosome]
GO:0005886 [plasma membrane]
GO:0016021 [integral component of membrane]
GO:0030139 [endocytic vesicle]
GO:0030315 [T-tubule]
GO:0030659 [cytoplasmic vesicle membrane]
GO:0042383 [sarcolemma]
GO:0070062 [extracellular exosome]
Show all
 2101 aa
239.3 kDa 		No 1
DYSF-021
ENSP00000407046
ENST00000413539
O75923 [Direct mapping]
Dysferlin
Show all
Transporters
   Transporter channels and pores
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
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005543 [phospholipid binding]
GO:0005544 [calcium-dependent phospholipid binding]
GO:0005768 [endosome]
GO:0005769 [early endosome]
GO:0005770 [late endosome]
GO:0005886 [plasma membrane]
GO:0016021 [integral component of membrane]
GO:0030139 [endocytic vesicle]
GO:0030315 [T-tubule]
GO:0030659 [cytoplasmic vesicle membrane]
GO:0042383 [sarcolemma]
GO:0070062 [extracellular exosome]
Show all
 2111 aa
240.6 kDa 		No 1

Contact

The Project

The Human Protein Atlas

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