USH1C_HUMAN - dbPTM
USH1C_HUMAN - PTM Information in dbPTM
Basic Information of Protein
UniProt ID USH1C_HUMAN
UniProt AC Q9Y6N9
Protein Name Harmonin
Gene Name USH1C
Organism Homo sapiens (Human).
Sequence Length 552
Subcellular Localization Cytoplasm, cytosol . Cytoplasm, cytoskeleton . Cell projection, microvillus . Colocalizes with F-actin (By similarity). Detected at the tip of cochlear hair cell stereocilia (By similarity). Enriched in microvilli of the intestinal brush border (PubM
Protein Description Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal development and maintenance of cochlear hair cell bundles (By similarity). As part of the intermicrovillar adhesion complex/IMAC plays a role in brush border differentiation, controlling microvilli organization and length. Probably plays a central regulatory role in the assembly of the complex, recruiting CDHR2, CDHR5 and MYO7B to the microvilli tips. [PubMed: 24725409]
Protein Sequence MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKHQVEYDQLTPRRSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTVSIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISHVKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEAVNVLKSSRSLTISIVAAAGRELFMTDRERLAEARQRELQRQELLMQKRLAMESNKILQEQQEMERQRRKEIAQKAAEENERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLRKPKYDQGVEPELEPADDLDGGTEEQGEQDFRKYEEGFDPYSMFTPEQIMGKDVRLLRIKKEGSLDLALEGGVDSPIGKVVVSAVYERGAAERHGGIVKGDEIMAINGKIVTDYTLAEAEAALQKAWNQGGDWIDLVVAVCPPKEYDDELTFF
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 Orthologous
Protein Cluster
78PhosphorylationQVEYDQLTPRRSRKL
CCCCCCCCHHHHHHC		14.7628555341
82PhosphorylationDQLTPRRSRKLKEVR
CCCCHHHHHHCCEEE		34.7417081983
101PhosphorylationHPEGLGLSVRGGLEF
CCCCCCCCCCCCHHH		14.1524719451
174PhosphorylationIGLIPVKSSPDEPLT
EEEEECCCCCCCCCC		47.5422210691
175PhosphorylationGLIPVKSSPDEPLTW
EEEECCCCCCCCCCH		30.5622210691
192PhosphorylationVDQFVSESGGVRGSL
HHHHHHCCCCCCCCC		33.0822210691
198PhosphorylationESGGVRGSLGSPGNR
CCCCCCCCCCCCCCC		20.99-
201PhosphorylationGVRGSLGSPGNRENK
CCCCCCCCCCCCCCC		34.6223663014
215PhosphorylationKEKKVFISLVGSRGL
CCCEEEEEEECCCCC		12.9223312004
219PhosphorylationVFISLVGSRGLGCSI
EEEEEECCCCCCCCC		18.7223312004
283PhosphorylationNVLKSSRSLTISIVA
HHHHHCCCCEEEEHH		31.6323663014
285PhosphorylationLKSSRSLTISIVAAA
HHHCCCCEEEEHHHH		17.5823663014
287PhosphorylationSSRSLTISIVAAAGR
HCCCCEEEEHHHHCH		13.0323663014
299PhosphorylationAGRELFMTDRERLAE
HCHHHHHCCHHHHHH		25.2724719451
327PhosphorylationQKRLAMESNKILQEQ
HHHHHHHHHHHHHHH		30.2720068231
380PhosphorylationQWEEDWGSKEQLLLP
HHHHHCCCHHHCCCC		28.8528857561
404PhosphorylationVPLRKPKYDQGVEPE
CCCCCCCCCCCCCCC		23.25-
430 (in isoform 5)Phosphorylation-7.8820068231
432 (in isoform 5)Phosphorylation-57.9420068231
440PhosphorylationYEEGFDPYSMFTPEQ
HHCCCCCCCCCCHHH		18.0220068231
441PhosphorylationEEGFDPYSMFTPEQI
HCCCCCCCCCCHHHH		16.8920068231
450 (in isoform 5)Phosphorylation-25.33-
463PhosphorylationLRIKKEGSLDLALEG
EEEEEECCCCEEEEC		21.5722210691
474PhosphorylationALEGGVDSPIGKVVV
EEECCCCCCCHHHHH		18.9322210691
485PhosphorylationKVVVSAVYERGAAER
HHHHHHHHHHCCHHH		10.30-
513 (in isoform 5)Phosphorylation-8.3522210691
521 (in isoform 5)Phosphorylation-11.3022210691
523 (in isoform 5)Phosphorylation-28.7922210691
Upstream regulatory proteins (kinases for phosphorylation sites, E3 ubiquitin ligases of ubiquitination sites, ...)
Modified Location Modified Residue Modification Type of Upstream Proteins Gene Name of Upstream Proteins UniProt AC of Upstream Proteins Sources

Oops, there are no upstream regulatory protein records of USH1C_HUMAN !!
Functions of PTM Sites
Modified Location Modified Residue Modification Function Reference

Oops, there are no descriptions of PTM sites of USH1C_HUMAN !!
Disease-associated PTM Sites based on SAP

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

Modified Location Modification Variant Position
(Distance <= 10) 		Residue Change SAP Related Disease Reference

Oops, there are no SNP-PTM records of USH1C_HUMAN !!
Protein-Protein Interaction
Interacting Protein Gene Name Interaction Type PPI Reference Domain-Domain Interactions
USBP1_HUMANUSHBP1physical
11311560
MYO7A_HUMANMYO7Aphysical
12485990
USH1C_HUMANUSH1Cphysical
12407180
WDR61_HUMANWDR61physical
22939629
MIPO1_HUMANMIPOL1physical
25416956
TBA3C_HUMANTUBA3Cphysical
27173435
TBB1_HUMANTUBB1physical
27173435
LTV1_HUMANLTV1physical
27173435
USH1G_HUMANUSH1Gphysical
27173435
WDR20_HUMANWDR20physical
27173435
NHRF2_HUMANSLC9A3R2physical
27173435
Drug and Disease Associations
Kegg Disease
There are no disease associations of PTM sites.
OMIM Disease
276904Usher syndrome 1C (USH1C)
602092Deafness, autosomal recessive, 18A (DFNB18A)
Kegg Drug
There are no disease associations of PTM sites.
DrugBank
There are no disease associations of PTM sites.
Regulatory Network of USH1C_HUMAN

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Related Literatures of Post-Translational Modification

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