OTOF CLIA Kit for Human(Homo sapiens) | EIAab.comOTOF CLIA Kit for Human(Homo sapiens)

Search Protein-oriented Product center.

For antibodies, ELISA/CLIA, proteins... Product center

Tips

Index > Protein center > OTOF(Gene name) > Human

OTOF (Gene name),

Otoferlin (Protein name ), OTOF_HUMAN from NCBI database.

top

General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

Feedback

Gene name:

OTOF(FER1L2);

Protein name:

Otoferlin;

Alternative:

Fer-1-like protein 2;

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Interacts with SNAP2; the interaction is direct. Interacts with STX1; the interaction is direct. Interacts with RAB8B.

Function:

Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion and in the control of neurotransmitter release at these output synapses. Interacts in a calcium-dependent manner to the presynaptic SNARE proteins at ribbon synapses of cochlear inner hair cells (IHCs) to trigger exocytosis of neurotransmitter. Also essential to synaptic exocytosis in immature outer hair cells (OHCs). May also play a role within the recycling of endosomes.

Subcellular Location:

Cytoplasmic vesicle secretory vesicle synaptic vesicle membrane Single-pass type II membrane protein Basolateral cell membrane Single-pass type II membrane protein Endoplasmic reticulum membrane Single-pass type II membrane protein Cell membrane Single-pass type II membrane protein Detected at basolateral cell membrane with synaptic vesicles surrounding the ribbon and at the presynaptic plasma membrane in the inner hair cells (IHCs). Colocalizes with GPR25 and RAB8B in inner hair cells.

Protein Attributes:

Sequence length:

1997

Sequence:

50:

100:

150:

200:

250:

300:

350:

400:

450:

500:

550:

600:

650:

700:

750:

800:

850:

900:

950:

1000:

1050:

1100:

1150:

1200:

1250:

1300:

1350:

1400:

1450:

1500:

1550:

1600:

1650:

1700:

1750:

1800:

1850:

1900:

1950:

1997:

LKSARYFLWH | TYRWLLLKLL | LLLLLLLLLA | LFLYSVPGYL | VKKILGA

3D Structure:

N/A

Predicted Eptitope:

Please Sign in.

Vaild Sequence:

Please Sign in.

Related Databases

UniGene:

Hs.91608

MIM:

601071

KEGG:

hsa:9381

STRING:

9606.ENSP00000272371

Pfam:

PF00168

SMR:

Q9HC10

String:

Q9HC10

Uniprot:

Q9HC10

FOR

ELISA Kit for Human Otoferlin

Cat.:

E15538r

Price:

Please sign in first.

MSDS:

Please sign in first.

Packing:

96T

ELISA Kit for Human Otoferlin

Cat.:

E15538m

Price:

Please sign in first.

MSDS:

Please sign in first.

Packing:

96T

ELISA Kit for Human Otoferlin

Cat.:

E15538h

Price:

Please sign in first.

MSDS:

Please sign in first.

Packing:

96T

CLIA Kit for Human Otoferlin

Cat.:

U15538h

Price:

Please sign in first.

MSDS:

Please sign in first.

Packing:

96T

CLIA Kit for Human Otoferlin

Cat.:

U15538m

Price:

Please sign in first.

MSDS:

Please sign in first.

Packing:

96T

CLIA Kit for Human Otoferlin

Cat.:

U15538r

Price:

Please sign in first.

MSDS:

Please sign in first.

Packing:

96T

Polyclonal Antibody for Human Otoferlin

Cat.:

P15538Rb-r

Price:

Please sign in first.

Packing:

40ug/0.2ml

Polyclonal Antibody for Human Otoferlin

Cat.:

P15538Rb-m

Price:

Please sign in first.

Packing:

40ug/0.2ml

Polyclonal Antibody for Human Otoferlin

Cat.:

P15538Rb-h

Price:

Please sign in first.

Packing:

40ug/0.2ml

Monoclonal Antibody for Human Otoferlin

Protein for Human Otoferlin

R&D Technical Data

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Precision

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Recovery

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Linearity

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

References

1.

"A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness."
Yasunaga S. , Grati M. , Cohen-Salmon M. , El-Amraoui A. , Mustapha M. , Salem N. , El-Zir E. , Loiselet J. , Petit C.
Nat. Genet.21:363-369(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4);INVOLVEMENT IN DFNB9
tissue: Fetus.
2.

"OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9."
Yasunaga S. , Grati M. , Chardenoux S. , Smith T.N. , Friedman T.B. , Lalwani A.K. , Wilcox E.R. , Petit C.
Am. J. Hum. Genet.67:591-600(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3);ALTERNATIVE SPLICING
tissue: Brain.
3.

"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W. , Graves T.A. , Fulton R.S. , Fulton L.A. , Pepin K.H. , Minx P. , Wagner-McPherson C. , Layman D. , Wylie K. , Sekhon M. , Becker M.C. , Fewell G.A. , Delehaunty K.D. , Miner T.L. , Nash W.E. , Kremitzki C. , Oddy L. , Du H. , more...
Nature434:724-731(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
4.

Mural R.J. , Istrail S. , Sutton G.G. , Florea L. , Halpern A.L. , Mobarry C.M. , Lippert R. , Walenz B. , Shatkay H. , Dew I. , Miller J.R. , Flanigan M.J. , Edwards N.J. , Bolanos R. , Fasulo D. , Halldorsson B.V. , Hannenhalli S. , Turner R. , more...
Submitted (2005-09) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
5.

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , more...
Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1174-1997 (ISOFORM 5)
tissue: Thalamus.
6.

"Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss."
Migliosi V. , Modamio-Hoeybjoer S. , Moreno-Pelayo M.A. , Rodriguez-Ballesteros M. , Villamar M. , Telleria D. , Menendez I. , Moreno F. , Del Castillo I.
J. Med. Genet.39:502-506(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CYS-82 AND SER-773
7.

"Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness."
Mirghomizadeh F. , Pfister M. , Apaydin F. , Petit C. , Kupka S. , Pusch C.M. , Zenner H.P. , Blin N.
Neurobiol. Dis.10:157-164(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS DFNB9 GLN-490 AND THR-515
8.

"A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy."
Tekin M. , Akcayoz D. , Incesulu A.
Am. J. Med. Genet. A138:6-10(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT DFNB9 PRO-1011
9.

"Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing."
Hutchin T. , Coy N.N. , Conlon H. , Telford E. , Bromelow K. , Blaydon D. , Taylor G. , Coghill E. , Brown S. , Trembath R. , Liu X.Z. , Bitner-Glindzicz M. , Mueller R.
Clin. Genet.68:506-512(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT DFNB9 TRP-822
10.

"OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele."
Varga R. , Avenarius M.R. , Kelley P.M. , Keats B.J. , Berlin C.I. , Hood L.J. , Morlet T.G. , Brashears S.M. , Starr A. , Cohn E.S. , Smith R.J.H. , Kimberling W.J.
J. Med. Genet.43:576-581(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS DFNB9 GLN-490; HIS-794 AND ALA-1825;VARIANTS AUNB1 THR-515; PRO-1011; GLN-1939 AND ARG-1987;VARIANTS VAL-53; CYS-82; MET-575; SER-773; TRP-822; PRO-1083; GLN-1157; GLU-1322; MET-1625; SER-1646 AND ASP-1888
11.

"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T. , Jones S. , Wood L.D. , Parsons D.W. , Lin J. , Barber T.D. , Mandelker D. , Leary R.J. , Ptak J. , Silliman N. , Szabo S. , Buckhaults P. , Farrell C. , Meeh P. , Markowitz S.D. , Willis J. , Dawson D. , Willson J.K.V. , more...
Science314:268-274(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS [LARGE SCALE ANALYSIS] LYS-1323 AND VAL-1547
12.

"A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy."
Rodriguez-Ballesteros M. , Reynoso R. , Olarte M. , Villamar M. , Morera C. , Santarelli R. , Arslan E. , Meda C. , Curet C. , Voelter C. , Sainz-Quevedo M. , Castorina P. , Ambrosetti U. , Berrettini S. , Frei K. , Tedin S. , Smith J. , Cruz Tapia M. , more...
Hum. Mutat.29:823-831(2008) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AUNB1 HIS-255; GLU-964; PRO-1138 AND CYS-1795;VARIANTS GLN-1236 AND LYS-1688

Product Feedback Wall

* Email:
*Comments: