MKS1_HUMAN - dbPTM
MKS1_HUMAN - PTM Information in dbPTM
Basic Information of Protein
UniProt ID MKS1_HUMAN
UniProt AC Q9NXB0
Protein Name Meckel syndrome type 1 protein
Gene Name MKS1
Organism Homo sapiens (Human).
Sequence Length 559
Subcellular Localization Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Localizes at the transition zone, a region between the basal body and the ciliary axoneme.
Protein Description Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology..
Protein Sequence MAETVWSTDTGEAVYRSRDPVRNLRLRVHLQRITSSNFLHYQPAAELGKDLIDLATFRPQPTASGHRPEEDEEEEIVIGWQEKLFSQFEVDLYQNETACQSPLDYQYRQEILKLENSGGKKNRRIFTYTDSDRYTNLEEHCQRMTTAASEVPSFLVERMANVRRRRQDRRGMEGGILKSRIVTWEPSEEFVRNNHVINTPLQTMHIMADLGPYKKLGYKKYEHVLCTLKVDSNGVITVKPDFTGLKGPYRIETEGEKQELWKYTIDNVSPHAQPEEEERERRVFKDLYGRHKEYLSSLVGTDFEMTVPGALRLFVNGEVVSAQGYEYDNLYVHFFVELPTAHWSSPAFQQLSGVTQTCTTKSLAMDKVAHFSYPFTFEAFFLHEDESSDALPEWPVLYCEVLSLDFWQRYRVEGYGAVVLPATPGSHTLTVSTWRPVELGTVAELRRFFIGGSLELEDLSYVRIPGSFKGERLSRFGLRTETTGTVTFRLHCLQQSRAFMESSSLQKRMRSVLDRLEGFSQQSSIHNVLEAFRRARRRMQEARESLPQDLVSPSGTLVS
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
4Phosphorylation----MAETVWSTDTG
----CCCEEEECCCC		20.1030177828
6 (in isoform 3)Phosphorylation-11.7024719451
7Phosphorylation-MAETVWSTDTGEAV
-CCCEEEECCCCCEE		16.4530177828
8PhosphorylationMAETVWSTDTGEAVY
CCCEEEECCCCCEEE		23.1330177828
10PhosphorylationETVWSTDTGEAVYRS
CEEEECCCCCEEEEC		36.6930177828
14 (in isoform 3)Phosphorylation-3.3824719451
15PhosphorylationTDTGEAVYRSRDPVR
CCCCCEEEECCCCCC		15.2130177828
34PhosphorylationRVHLQRITSSNFLHY
EEEEEEHHCCCCCCC		28.4323186163
35PhosphorylationVHLQRITSSNFLHYQ
EEEEEHHCCCCCCCC		22.4023186163
36PhosphorylationHLQRITSSNFLHYQP
EEEEHHCCCCCCCCC		23.9723186163
41PhosphorylationTSSNFLHYQPAAELG
HCCCCCCCCCHHHHC		20.5227642862
56PhosphorylationKDLIDLATFRPQPTA
CCEEHHHHCCCCCCC		27.7225072903
62PhosphorylationATFRPQPTASGHRPE
HHCCCCCCCCCCCCC		28.3625072903
64PhosphorylationFRPQPTASGHRPEED
CCCCCCCCCCCCCCC		37.3025072903
113UbiquitinationQYRQEILKLENSGGK
HHHHHHHHHHCCCCC		60.46-
178 (in isoform 2)Ubiquitination-35.4521906983
178 (in isoform 1)Ubiquitination-35.4521906983
178UbiquitinationGMEGGILKSRIVTWE
CCCCCCCEEEEEEEC		35.4521906983
179PhosphorylationMEGGILKSRIVTWEP
CCCCCCEEEEEEECC		24.64-
215UbiquitinationADLGPYKKLGYKKYE
HHCCHHHCCCCCEEE		41.10-
220UbiquitinationYKKLGYKKYEHVLCT
HHCCCCCEEEEEEEE		47.60-
221PhosphorylationKKLGYKKYEHVLCTL
HCCCCCEEEEEEEEE		13.71-
239UbiquitinationSNGVITVKPDFTGLK
CCCEEEECCCCCCCC		30.1621906983
239 (in isoform 2)Ubiquitination-30.1621906983
239 (in isoform 1)Ubiquitination-30.1621906983
246UbiquitinationKPDFTGLKGPYRIET
CCCCCCCCCCEEEEE		60.22-
257 (in isoform 2)Ubiquitination-60.9921906983
257 (in isoform 1)Ubiquitination-60.9921906983
257UbiquitinationRIETEGEKQELWKYT
EEEECCCCEEEEEEE		60.9921906983
262UbiquitinationGEKQELWKYTIDNVS
CCCEEEEEEECCCCC		45.18-
285 (in isoform 2)Ubiquitination-43.9221906983
285 (in isoform 1)Ubiquitination-43.9221906983
285UbiquitinationERERRVFKDLYGRHK
HHHHHHHHHHHHHHH		43.9221906983
288PhosphorylationRRVFKDLYGRHKEYL
HHHHHHHHHHHHHHH		23.4229496907
292UbiquitinationKDLYGRHKEYLSSLV
HHHHHHHHHHHHHHH		46.85-
301PhosphorylationYLSSLVGTDFEMTVP
HHHHHHCCCCEEECC		30.00-
355PhosphorylationFQQLSGVTQTCTTKS
HHHHCCCCCCCCCHH		22.99-
357PhosphorylationQLSGVTQTCTTKSLA
HHCCCCCCCCCHHHH		11.49-
359PhosphorylationSGVTQTCTTKSLAMD
CCCCCCCCCHHHHHC		40.42-
360PhosphorylationGVTQTCTTKSLAMDK
CCCCCCCCHHHHHCC		22.30-
433PhosphorylationSHTLTVSTWRPVELG
CCEEEEEEECCEECC		22.5824719451
469UbiquitinationVRIPGSFKGERLSRF
EECCCCCCCCEEEEE		62.65-
480PhosphorylationLSRFGLRTETTGTVT
EEEECCCCCCCCEEE		42.6025219547
482PhosphorylationRFGLRTETTGTVTFR
EECCCCCCCCEEEEE		29.8825219547
483PhosphorylationFGLRTETTGTVTFRL
ECCCCCCCCEEEEEE		25.3225219547
485PhosphorylationLRTETTGTVTFRLHC
CCCCCCCEEEEEEHH		17.8025219547
487PhosphorylationTETTGTVTFRLHCLQ
CCCCCEEEEEEHHHH		11.6824719451
502PhosphorylationQSRAFMESSSLQKRM
HHHHHHHCHHHHHHH		17.2826471730
503PhosphorylationSRAFMESSSLQKRMR
HHHHHHCHHHHHHHH		23.0426471730
504PhosphorylationRAFMESSSLQKRMRS
HHHHHCHHHHHHHHH		44.0626471730
507UbiquitinationMESSSLQKRMRSVLD
HHCHHHHHHHHHHHH		54.152190698
507 (in isoform 1)Ubiquitination-54.1521906983
511PhosphorylationSLQKRMRSVLDRLEG
HHHHHHHHHHHHHCC		20.0722210691
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 MKS1_HUMAN !!
Functions of PTM Sites
Modified Location Modified Residue Modification Function Reference

Oops, there are no descriptions of PTM sites of MKS1_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 MKS1_HUMAN !!
Protein-Protein Interaction
Interacting Protein Gene Name Interaction Type PPI Reference Domain-Domain Interactions
AP3M1_HUMANAP3M1physical
26638075
ARFG3_HUMANARFGAP3physical
26638075
B9D1_HUMANB9D1physical
26638075
B9D2_HUMANB9D2physical
26638075
R3HCL_HUMANR3HCC1Lphysical
26638075
PYR1_HUMANCADphysical
26638075
C2D1A_HUMANCC2D1Aphysical
26638075
TCPB_HUMANCCT2physical
26638075
TCPG_HUMANCCT3physical
26638075
TCPD_HUMANCCT4physical
26638075
TCPE_HUMANCCT5physical
26638075
TCPZ_HUMANCCT6Aphysical
26638075
TCPH_HUMANCCT7physical
26638075
COPA_HUMANCOPAphysical
26638075
COPB_HUMANCOPB1physical
26638075
COPZ1_HUMANCOPZ1physical
26638075
ODB2_HUMANDBTphysical
26638075
DJC11_HUMANDNAJC11physical
26638075
ECH1_HUMANECH1physical
26638075
EGLN1_HUMANEGLN1physical
26638075
FKBP4_HUMANFKBP4physical
26638075
GLMN_HUMANGLMNphysical
26638075
HAUS7_HUMANHAUS7physical
26638075
HAUS8_HUMANHAUS8physical
26638075
K0355_HUMANKIAA0355physical
26638075
M21D2_HUMANMB21D2physical
26638075
NUDC_HUMANNUDCphysical
26638075
NUDC2_HUMANNUDCD2physical
26638075
NUDC3_HUMANNUDCD3physical
26638075
PDCL3_HUMANPDCL3physical
26638075
PIHD1_HUMANPIH1D1physical
26638075
TF65_HUMANRELAphysical
26638075
RFC5_HUMANRFC5physical
26638075
RPAP3_HUMANRPAP3physical
26638075
RIR2_HUMANRRM2physical
26638075
SMAG2_HUMANSAMD4Bphysical
26638075
SGT1_HUMANSUGT1physical
26638075
TBD2B_HUMANTBC1D2Bphysical
26638075
TCPA_HUMANTCP1physical
26638075
TNR6B_HUMANTNRC6Bphysical
26638075
UN45A_HUMANUNC45Aphysical
26638075
UXT_HUMANUXTphysical
26638075
YTHD1_HUMANYTHDF1physical
26638075
AIP_HUMANAIPphysical
26638075
BAG2_HUMANBAG2physical
26638075
DNJA1_HUMANDNAJA1physical
26638075
DNJA2_HUMANDNAJA2physical
26638075
DNJC7_HUMANDNAJC7physical
26638075
LRC49_HUMANLRRC49physical
26638075
TPGS1_HUMANTPGS1physical
26638075
Drug and Disease Associations
Kegg Disease
There are no disease associations of PTM sites.
OMIM Disease
249000Meckel syndrome 1 (MKS1)
615990Bardet-Biedl syndrome 13 (BBS13)
Kegg Drug
There are no disease associations of PTM sites.
DrugBank
There are no disease associations of PTM sites.
Regulatory Network of MKS1_HUMAN

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Related Literatures of Post-Translational Modification

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