Cell atlas - OTOF - The Human Protein Atlas

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OTOF

TISSUE

CELL

CANCER

CELL ATLAS RNA EXPRESSION

GENE/PROTEIN

Dictionary

Human cell

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GENERAL INFORMATION
Gene name	OTOF
Gene description	Otoferlin
Protein class	Disease related genes Plasma proteins Predicted intracellular proteins Predicted membrane proteins
Predicted localization	Intracellular,Membrane
Number of transcripts	6
	SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION
Summary
RNA cell category	Cell line enriched (HDLM-2)
Protein evidence	Evidence at protein level
Main location	Not available

DATA RELIABILITY
Reliability score	Pending cell analysis.

ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Cell line enriched (HDLM-2) 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.

GENE INFORMATION
Gene name	OTOF (HGNC Symbol)
Synonyms	DFNB6, DFNB9, FER1L2
Description	Otoferlin (HGNC Symbol)
Entrez gene summary	Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Chromosome	2
Cytoband	p23.3
Chromosome location (bp)	26457203 - 26558698
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000115155 (version 83.38)
Entrez gene	9381
UniProt	Q9HC10 (UniProt - Evidence at protein level)
neXtProt	NX_Q9HC10
Antibodypedia	OTOF antibodies

PROTEIN BROWSER

OTOF-001	OTOF-002	OTOF-003	OTOF-004	OTOF-005	OTOF-007

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
OTOF-001 ENSP00000272371 ENST00000272371	Q9HC10 [Direct mapping] Otoferlin Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins 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 Disease related genes Protein evidence (Kim et al 2014) Show all	GO:0003674 [molecular_function] GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0005737 [cytoplasm] GO:0005783 [endoplasmic reticulum] GO:0005789 [endoplasmic reticulum membrane] GO:0005829 [cytosol] GO:0005886 [plasma membrane] GO:0007605 [sensory perception of sound] GO:0016021 [integral component of membrane] GO:0016079 [synaptic vesicle exocytosis] GO:0016323 [basolateral plasma membrane] GO:0030054 [cell junction] GO:0030672 [synaptic vesicle membrane] GO:0032403 [protein complex binding] GO:0035612 [AP-2 adaptor complex binding] GO:0045177 [apical part of cell] GO:0045178 [basal part of cell] GO:0061025 [membrane fusion] GO:0090102 [cochlea development] Show all	1997 aa 226.8 kDa	No	1
OTOF-002 ENSP00000345137 ENST00000338581	Q9HC10 [Direct mapping] Otoferlin Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins 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 Disease related genes Protein evidence (Kim et al 2014) Show all	GO:0003674 [molecular_function] GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0005789 [endoplasmic reticulum membrane] GO:0005829 [cytosol] GO:0007605 [sensory perception of sound] GO:0016021 [integral component of membrane] GO:0016079 [synaptic vesicle exocytosis] GO:0016323 [basolateral plasma membrane] GO:0030054 [cell junction] GO:0030672 [synaptic vesicle membrane] GO:0061025 [membrane fusion] Show all	1230 aa 140.5 kDa	No	1
OTOF-003 ENSP00000344521 ENST00000339598	Q9HC10 [Direct mapping] Otoferlin Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins 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 Disease related genes Protein evidence (Kim et al 2014) Show all	GO:0003674 [molecular_function] GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0005789 [endoplasmic reticulum membrane] GO:0005829 [cytosol] GO:0007605 [sensory perception of sound] GO:0016021 [integral component of membrane] GO:0016079 [synaptic vesicle exocytosis] GO:0016323 [basolateral plasma membrane] GO:0030054 [cell junction] GO:0030672 [synaptic vesicle membrane] GO:0061025 [membrane fusion] Show all	1230 aa 140.3 kDa	No	1
OTOF-004 ENSP00000383906 ENST00000402415	Q9HC10 [Direct mapping] Otoferlin Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins 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 Disease related genes Protein evidence (Kim et al 2014) Show all	GO:0003674 [molecular_function] GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0005789 [endoplasmic reticulum membrane] GO:0005829 [cytosol] GO:0007605 [sensory perception of sound] GO:0016021 [integral component of membrane] GO:0016079 [synaptic vesicle exocytosis] GO:0016323 [basolateral plasma membrane] GO:0030054 [cell junction] GO:0030672 [synaptic vesicle membrane] GO:0061025 [membrane fusion] Show all	1307 aa 148.9 kDa	No	1
OTOF-005 ENSP00000385255 ENST00000403946	Q9HC10 [Direct mapping] Otoferlin Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins 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 Disease related genes Show all	GO:0003674 [molecular_function] GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0005789 [endoplasmic reticulum membrane] GO:0005829 [cytosol] GO:0007605 [sensory perception of sound] GO:0016021 [integral component of membrane] GO:0016079 [synaptic vesicle exocytosis] GO:0016323 [basolateral plasma membrane] GO:0030054 [cell junction] GO:0030672 [synaptic vesicle membrane] GO:0061025 [membrane fusion] Show all	1997 aa 226.5 kDa	No	1
OTOF-007 ENSP00000389917 ENST00000426958	H7BZJ5 [Direct mapping] Otoferlin Show all	Predicted intracellular proteins Show all	GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0005623 [cell] GO:0016021 [integral component of membrane] GO:0016079 [synaptic vesicle exocytosis] Show all	141 aa 15.9 kDa	No	0

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The Project

The Human Protein Atlas

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