OTOF_HUMAN - PTM Information in dbPTM

Basic Information of Protein

• UniProt ID: OTOF_HUMAN
• UniProt AC: Q9HC10
• Protein Name: Otoferlin
• Gene Name: OTOF
• Organism: Homo sapiens (Human).
• Sequence Length: 1997
• Subcellular Localization: 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
• Protein Description: 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 (By similarity)..
• Protein Sequence: MALLIHLKTVSELRGRGDRIAKVTFRGQSFYSRVLENCEDVADFDETFRWPVASSIDRNEMLEIQVFNYSKVFSNKLIGTFRMVLQKVVEESHVEVTDTLIDDNNAIIKTSLCVEVRYQATDGTVGSWDDGDFLGDESLQEEEKDSQETDGLLPGSRPSSRPPGEKSFRRAGRSVFSAMKLGKNRSHKEEPQRPDEPAVLEMEDLDHLAIRLGDGLDPDSVSLASVTALTTNVSNKRSKPDIKMEPSAGRPMDYQVSITVIEARQLVGLNMDPVVCVEVGDDKKYTSMKESTNCPYYNEYFVFDFHVSPDVMFDKIIKISVIHSKNLLRSGTLVGSFKMDVGTVYSQPEHQFHHKWAILSDPDDISSGLKGYVKCDVAVVGKGDNIKTPHKANETDEDDIEGNLLLPEGVPPERQWARFYVKIYRAEGLPRMNTSLMANVKKAFIGENKDLVDPYVQVFFAGQKGKTSVQKSSYEPLWNEQVVFTDLFPPLCKRMKVQIRDSDKVNDVAIGTHFIDLRKISNDGDKGFLPTLGPAWVNMYGSTRNYTLLDEHQDLNEGLGEGVSFRARLLLGLAVEIVDTSNPELTSSTEVQVEQATPISESCAGKMEEFFLFGAFLEASMIDRRNGDKPITFEVTIGNYGNEVDGLSRPQRPRPRKEPGDEEEVDLIQNASDDEAGDAGDLASVSSTPPMRPQVTDRNYFHLPYLERKPCIYIKSWWPDQRRRLYNANIMDHIADKLEEGLNDIQEMIKTEKSYPERRLRGVLEELSCGCCRFLSLADKDQGHSSRTRLDRERLKSCMRELENMGQQARMLRAQVKRHTVRDKLRLCQNFLQKLRFLADEPQHSIPDIFIWMMSNNKRVAYARVPSKDLLFSIVEEETGKDCAKVKTLFLKLPGKRGFGSAGWTVQAKVELYLWLGLSKQRKEFLCGLPCGFQEVKAAQGLGLHAFPPVSLVYTKKQAFQLRAHMYQARSLFAADSSGLSDPFARVFFINQSQCTEVLNETLCPTWDQMLVFDNLELYGEAHELRDDPPIIVIEIYDQDSMGKADFMGRTFAKPLVKMADEAYCPPRFPPQLEYYQIYRGNATAGDLLAAFELLQIGPAGKADLPPINGPVDVDRGPIMPVPMGIRPVLSKYRVEVLFWGLRDLKRVNLAQVDRPRVDIECAGKGVQSSLIHNYKKNPNFNTLVKWFEVDLPENELLHPPLNIRVVDCRAFGRYTLVGSHAVSSLRRFIYRPPDRSAPSWNTTVRLLRRCRVLCNGGSSSHSTGEVVVTMEPEVPIKKLETMVKLDATSEAVVKVDVAEEEKEKKKKKKGTAEEPEEEEPDESMLDWWSKYFASIDTMKEQLRQQEPSGIDLEEKEEVDNTEGLKGSMKGKEKARAAKEEKKKKTQSSGSGQGSEAPEKKKPKIDELKVYPKELESEFDNFEDWLHTFNLLRGKTGDDEDGSTEEERIVGRFKGSLCVYKVPLPEDVSREAGYDSTYGMFQGIPSNDPINVLVRVYVVRATDLHPADINGKADPYIAIRLGKTDIRDKENYISKQLNPVFGKSFDIEASFPMESMLTVAVYDWDLVGTDDLIGETKIDLENRFYSKHRATCGIAQTYSTHGYNIWRDPMKPSQILTRLCKDGKVDGPHFGPPGRVKVANRVFTGPSEIEDENGQRKPTDEHVALLALRHWEDIPRAGCRLVPEHVETRPLLNPDKPGIEQGRLELWVDMFPMDMPAPGTPLDISPRKPKKYELRVIIWNTDEVVLEDDDFFTGEKSSDIFVRGWLKGQQEDKQDTDVHYHSLTGEGNFNWRYLFPFDYLAAEEKIVISKKESMFSWDETEYKIPARLTLQIWDADHFSADDFLGAIELDLNRFPRGAKTAKQCTMEMATGEVDVPLVSIFKQKRVKGWWPLLARNENDEFELTGKVEAELHLLTAEEAEKNPVGLARNEPDPLEKPNRPDTSFIWFLNPLKSARYFLWHTYRWLLLKLLLLLLLLLLLALFLYSVPGYLVKKILGA

Overview of Protein Modification Sites with Functional and Structural Information

Experimental Post-Translational Modification Sites

* ASA = Accessible Surface Area

Locations	Modification	Substrate Peptides & Secondary Structure	ASA (%)	Reference
9	Phosphorylation	ALLIHLKTVSELRGR EEEEEHHHHHHHCCC	35.31	26437602
11	Phosphorylation	LIHLKTVSELRGRGD EEEHHHHHHHCCCCC	35.82	24719451
20 (in isoform 3)	Phosphorylation	-	5.31	-
80	Phosphorylation	FSNKLIGTFRMVLQK HCCCHHHHHHHHHHH	10.90	24719451
149	Phosphorylation	EEKDSQETDGLLPGS HHHCCCCCCCCCCCC	27.94	-
156	Phosphorylation	TDGLLPGSRPSSRPP CCCCCCCCCCCCCCC	38.79	-
159	Phosphorylation	LLPGSRPSSRPPGEK CCCCCCCCCCCCCCH	37.56	-
174	Phosphorylation	SFRRAGRSVFSAMKL HHHHHHHHHHHHHHC	26.96	23532336
177	Phosphorylation	RAGRSVFSAMKLGKN HHHHHHHHHHHCCCC	25.87	-
239	Acetylation	NVSNKRSKPDIKMEP CCCCCCCCCCCCCCC	51.22	20167786
259	Phosphorylation	MDYQVSITVIEARQL CCEEEEEEEEEHHHH	14.13	28258704
286	Phosphorylation	VGDDKKYTSMKESTN ECCCCCCCCCCCCCC	31.09	-
320	Phosphorylation	FDKIIKISVIHSKNL HHHEEEEEEECCCCC	15.26	19664995
324	Phosphorylation	IKISVIHSKNLLRSG EEEEEECCCCCCCCC	16.47	-
573	Ubiquitination	RARLLLGLAVEIVDT HHHHHHHHHEEEECC	4.94	29967540
640	Phosphorylation	FEVTIGNYGNEVDGL EEEEECCCCCCCCCC	19.00	25599653
650	Ubiquitination	EVDGLSRPQRPRPRK CCCCCCCCCCCCCCC	31.02	29967540
726	Phosphorylation	PDQRRRLYNANIMDH HHHHHHHHHHHHHHH	15.49	25690035
755	Phosphorylation	MIKTEKSYPERRLRG HHHHCCCCHHHHHHH	21.85	-
785	Phosphorylation	ADKDQGHSSRTRLDR HCCCCCCCCCHHHHH	28.48	22210691
788	Phosphorylation	DQGHSSRTRLDRERL CCCCCCCHHHHHHHH	37.22	22210691
834	Ubiquitination	LCQNFLQKLRFLADE HHHHHHHHHHHHCCC	43.72	-
896	Ubiquitination	LFLKLPGKRGFGSAG EEEECCCCCCCCCCC	47.62	-
1193 (in isoform 2)	Phosphorylation	-	37.59	27251275
1215	Phosphorylation	DCRAFGRYTLVGSHA ECEECCCEEEECCHH	12.57	24719451
1216	Phosphorylation	CRAFGRYTLVGSHAV CEECCCEEEECCHHH	17.38	24719451
1224	Phosphorylation	LVGSHAVSSLRRFIY EECCHHHHHHHHHHC	25.16	24719451
1225	Phosphorylation	VGSHAVSSLRRFIYR ECCHHHHHHHHHHCC	21.21	24719451
1231	Phosphorylation	SSLRRFIYRPPDRSA HHHHHHHCCCCCCCC	17.85	24719451
1243	Phosphorylation	RSAPSWNTTVRLLRR CCCCCCHHHHHHHHH	22.02	29759185
1244	Phosphorylation	SAPSWNTTVRLLRRC CCCCCHHHHHHHHHC	10.62	29759185
1282	Phosphorylation	VPIKKLETMVKLDAT CCHHHEEEEEECCCC	37.39	24702127
1332	Phosphorylation	MLDWWSKYFASIDTM HHHHHHHHHHHHHHH	10.00	-
1335	Phosphorylation	WWSKYFASIDTMKEQ HHHHHHHHHHHHHHH	15.88	-
1338	Phosphorylation	KYFASIDTMKEQLRQ HHHHHHHHHHHHHHH	28.59	-
1340	Ubiquitination	FASIDTMKEQLRQQE HHHHHHHHHHHHHCC	44.39	29967540
1349	Phosphorylation	QLRQQEPSGIDLEEK HHHHCCCCCCCCHHH	47.86	-
1362	Phosphorylation	EKEEVDNTEGLKGSM HHHHHCCCCCCCCHH	27.28	-
1368	Phosphorylation	NTEGLKGSMKGKEKA CCCCCCCHHHHHHHH	18.74	-
1386	Phosphorylation	KEEKKKKTQSSGSGQ HHHHHHHHCCCCCCC	42.43	29083192
1388	Phosphorylation	EKKKKTQSSGSGQGS HHHHHHCCCCCCCCC	41.73	29083192
1389	Phosphorylation	KKKKTQSSGSGQGSE HHHHHCCCCCCCCCC	27.45	29083192
1391	Phosphorylation	KKTQSSGSGQGSEAP HHHCCCCCCCCCCCC	29.86	29083192
1395	Phosphorylation	SSGSGQGSEAPEKKK CCCCCCCCCCCCCCC	23.77	29083192
1460	Phosphorylation	FKGSLCVYKVPLPED EECEEEEEECCCCCC	12.79	24719451
1532	Phosphorylation	DIRDKENYISKQLNP CCCCHHHHHHHHCCC	13.99	-
1534	Phosphorylation	RDKENYISKQLNPVF CCHHHHHHHHCCCCC	12.18	-
1598	Phosphorylation	TCGIAQTYSTHGYNI CCCEEECCCCCCCCC	10.25	22210691
1599	Phosphorylation	CGIAQTYSTHGYNIW CCEEECCCCCCCCCC	19.81	22210691
1600	Phosphorylation	GIAQTYSTHGYNIWR CEEECCCCCCCCCCC	14.65	22210691
1741	Phosphorylation	LRVIIWNTDEVVLED EEEEEECCCCEEECC	20.66	-
1753	Phosphorylation	LEDDDFFTGEKSSDI ECCCCCCCCCCCCCE	44.41	-
1757	Phosphorylation	DFFTGEKSSDIFVRG CCCCCCCCCCEEEEE	29.01	-
1758	Phosphorylation	FFTGEKSSDIFVRGW CCCCCCCCCEEEEEE	45.88	-
1793	Phosphorylation	EGNFNWRYLFPFDYL CCCCCEEEEEEHHHE	12.33	25627689
1799	Phosphorylation	RYLFPFDYLAAEEKI EEEEEHHHEEECCEE	9.91	25627689
1813	Phosphorylation	IVISKKESMFSWDET EEEECCHHCCCCCCC	33.73	28270605
1816	Phosphorylation	SKKESMFSWDETEYK ECCHHCCCCCCCCCC	25.61	22210691
1820	Phosphorylation	SMFSWDETEYKIPAR HCCCCCCCCCCCCCE	41.99	22210691
1822	Phosphorylation	FSWDETEYKIPARLT CCCCCCCCCCCCEEE	22.95	28270605
1860	Phosphorylation	RFPRGAKTAKQCTME CCCCCCHHHHHCCHH	38.25	28674151
1879	Phosphorylation	EVDVPLVSIFKQKRV CCCCCEEEHHCCCCC	29.95	24719451
1960 (in isoform 5)	Phosphorylation	-	18.37	27251275

Upstream regulatory proteins (kinases for phosphorylation sites, E3 ubiquitin ligases of ubiquitination sites, ...)

Oops, there are no upstream regulatory protein records of OTOF_HUMAN !!

Functions of PTM Sites

Oops, there are no descriptions of PTM sites of OTOF_HUMAN !!

Disease-associated PTM Sites based on SAP

* Distance = the distance between SAP position and PTM sites.

Oops, there are no SNP-PTM records of OTOF_HUMAN !!

Protein-Protein Interaction

Oops, there are no PPI records of OTOF_HUMAN !!

Drug and Disease Associations

• Kegg Disease
• H00605: Deafness, autosomal recessive
• OMIM Disease
• 601071: Deafness, autosomal recessive, 9 (DFNB9)
• 601071: Auditory neuropathy, autosomal recessive, 1 (AUNB1)
• Kegg Drug
• There are no disease associations of PTM sites.
• DrugBank
• There are no disease associations of PTM sites.