BBS7_HUMAN - dbPTM
BBS7_HUMAN - PTM Information in dbPTM
Basic Information of Protein
UniProt ID BBS7_HUMAN
UniProt AC Q8IWZ6
Protein Name Bardet-Biedl syndrome 7 protein
Gene Name BBS7
Organism Homo sapiens (Human).
Sequence Length 715
Subcellular Localization Cell projection, cilium membrane . Cytoplasm . Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite . Cytoplasm, cytoskeleton, cilium basal body .
Protein Description The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization..
Protein Sequence MDLILNRMDYLQVGVTSQKTMKLIPASRHRATQKVVIGDHDGVVMCFGMKKGEAAAVFKTLPGPKIARLELGGVINTPQEKIFIAAASEIRGFTKRGKQFLSFETNLTESIKAMHISGSDLFLSASYIYNHYCDCKDQHYYLSGDKINDVICLPVERLSRITPVLACQDRVLRVLQGSDVMYAVEVPGPPTVLALHNGNGGDSGEDLLFGTSDGKLALIQITTSKPVRKWEIQNEKKRGGILCIDSFDIVGDGVKDLLVGRDDGMVEVYSFDNANEPVLRFDQMLSESVTSIQGGCVGKDSYDEIVVSTYSGWVTGLTTEPIHKESGPGEELKINQEMQNKISSLRNELEHLQYKVLQERENYQQSSQSSKAKSAVPSFGINDKFTLNKDDASYSLILEVQTAIDNVLIQSDVPIDLLDVDKNSAVVSFSSCDSESNDNFLLATYRCQADTTRLELKIRSIEGQYGTLQAYVTPRIQPKTCQVRQYHIKPLSLHQRTHFIDHDRPMNTLTLTGQFSFAEVHSWVVFCLPEVPEKPPAGECVTFYFQNTFLDTQLESTYRKGEGVFKSDNISTISILKDVLSKEATKRKINLNISYEINEVSVKHTLKLIHPKLEYQLLLAKKVQLIDALKELQIHEGNTNFLIPEYHCILEEADHLQEEYKKQPAHLERLYGMITDLFIDKFKFKGTNVKTKVPLLLEILDSYDQNALISFFDAA
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
1Acetylation-------MDLILNRM
-------CCCHHHCC		9.5022814378
19 (in isoform 1)Ubiquitination-50.8021890473
19UbiquitinationQVGVTSQKTMKLIPA
EECCCCHHHHCEECC		50.8022817900
19 (in isoform 2)Ubiquitination-50.8021890473
22UbiquitinationVTSQKTMKLIPASRH
CCCHHHHCEECCCCC		48.7922817900
32PhosphorylationPASRHRATQKVVIGD
CCCCCCCCCEEEEEC		28.9520058876
50UbiquitinationVVMCFGMKKGEAAAV
EEEEEEECCCCEEEE		58.9922817900
51 (in isoform 1)Ubiquitination-53.7621890473
51UbiquitinationVMCFGMKKGEAAAVF
EEEEEECCCCEEEEE		53.7621906983
51 (in isoform 2)Ubiquitination-53.7621890473
59UbiquitinationGEAAAVFKTLPGPKI
CCEEEEEECCCCCEE		42.42-
60PhosphorylationEAAAVFKTLPGPKIA
CEEEEEECCCCCEEE		27.0728060719
65UbiquitinationFKTLPGPKIARLELG
EECCCCCEEEEEEEC		55.7129967540
88PhosphorylationKIFIAAASEIRGFTK
HHHHHHHHHHCCCCH		28.91-
126PhosphorylationSDLFLSASYIYNHYC
CCEEEEEHHHHHEEC		14.53-
225UbiquitinationLIQITTSKPVRKWEI
EEEEECCCCCEEEEE		45.5027667366
226UbiquitinationIQITTSKPVRKWEIQ
EEEECCCCCEEEEEC		30.8027667366
240UbiquitinationQNEKKRGGILCIDSF
CCCCCCCCEEEEECC		17.4627667366
241UbiquitinationNEKKRGGILCIDSFD
CCCCCCCEEEEECCE		2.9327667366
246PhosphorylationGGILCIDSFDIVGDG
CCEEEEECCEECCCC		12.6126074081
333 (in isoform 1)Ubiquitination-42.7821890473
333UbiquitinationSGPGEELKINQEMQN
CCCCCCCHHCHHHHH		42.7821906983
333 (in isoform 2)Ubiquitination-42.7821890473
334UbiquitinationGPGEELKINQEMQNK
CCCCCCHHCHHHHHH		11.4122817900
341 (in isoform 2)Ubiquitination-27.3721890473
341UbiquitinationINQEMQNKISSLRNE
HCHHHHHHHHHHHHH		27.3721906983
341 (in isoform 1)Ubiquitination-27.3721890473
342UbiquitinationNQEMQNKISSLRNEL
CHHHHHHHHHHHHHH		4.4222817900
343PhosphorylationQEMQNKISSLRNELE
HHHHHHHHHHHHHHH		25.5724719451
344PhosphorylationEMQNKISSLRNELEH
HHHHHHHHHHHHHHH		34.5225954137
348UbiquitinationKISSLRNELEHLQYK
HHHHHHHHHHHHHHH		49.4522817900
349UbiquitinationISSLRNELEHLQYKV
HHHHHHHHHHHHHHH		6.0022817900
355 (in isoform 1)Ubiquitination-24.4121890473
355 (in isoform 2)Ubiquitination-24.4121890473
355UbiquitinationELEHLQYKVLQEREN
HHHHHHHHHHHHHHH		24.4122817900
356UbiquitinationLEHLQYKVLQERENY
HHHHHHHHHHHHHHH		5.9321890473
357UbiquitinationEHLQYKVLQERENYQ
HHHHHHHHHHHHHHH		3.7122817900
370UbiquitinationYQQSSQSSKAKSAVP
HHHCCCCHHHHHCCC		29.0621890473
371UbiquitinationQQSSQSSKAKSAVPS
HHCCCCHHHHHCCCC		66.1521890473
371AcetylationQQSSQSSKAKSAVPS
HHCCCCHHHHHCCCC		66.1525953088
372UbiquitinationQSSQSSKAKSAVPSF
HCCCCHHHHHCCCCC		17.0027667366
384UbiquitinationPSFGINDKFTLNKDD
CCCCCCCCEEECCCC		35.4429967540
386UbiquitinationFGINDKFTLNKDDAS
CCCCCCEEECCCCCC		34.8527667366
387UbiquitinationGINDKFTLNKDDASY
CCCCCEEECCCCCCE		9.3827667366
457UbiquitinationDTTRLELKIRSIEGQ
CCCEEEEEEEEEECC		27.05-
460PhosphorylationRLELKIRSIEGQYGT
EEEEEEEEEECCCEE		28.59-
479UbiquitinationVTPRIQPKTCQVRQY
ECCCCCCCEEEEEEE		45.6227667366
480UbiquitinationTPRIQPKTCQVRQYH
CCCCCCCEEEEEEEE		18.1727667366
489UbiquitinationQVRQYHIKPLSLHQR
EEEEEEECCCCHHCC		26.96-
494UbiquitinationHIKPLSLHQRTHFID
EECCCCHHCCCCCCC		16.2327667366
495UbiquitinationIKPLSLHQRTHFIDH
ECCCCHHCCCCCCCC		58.2127667366
522UbiquitinationFSFAEVHSWVVFCLP
CCHHEEEEEEEEECC		27.0922817900
523UbiquitinationSFAEVHSWVVFCLPE
CHHEEEEEEEEECCC		3.8722817900
527UbiquitinationVHSWVVFCLPEVPEK
EEEEEEEECCCCCCC		4.1322817900
528UbiquitinationHSWVVFCLPEVPEKP
EEEEEEECCCCCCCC		2.4822817900
531UbiquitinationVVFCLPEVPEKPPAG
EEEECCCCCCCCCCC		7.5822817900
532UbiquitinationVFCLPEVPEKPPAGE
EEECCCCCCCCCCCC		42.0822817900
538UbiquitinationVPEKPPAGECVTFYF
CCCCCCCCCEEEEEE		34.3122817900
543UbiquitinationPAGECVTFYFQNTFL
CCCCEEEEEEECCCC		2.6122817900
547UbiquitinationCVTFYFQNTFLDTQL
EEEEEEECCCCHHHH		23.9322817900
567PhosphorylationKGEGVFKSDNISTIS
CCCCCCCCCCCCHHH		25.1522985185
571PhosphorylationVFKSDNISTISILKD
CCCCCCCCHHHHHHH		26.4130622161
572PhosphorylationFKSDNISTISILKDV
CCCCCCCHHHHHHHH		18.2330622161
574PhosphorylationSDNISTISILKDVLS
CCCCCHHHHHHHHHC		23.2024719451
577 (in isoform 2)Ubiquitination-44.0921890473
577UbiquitinationISTISILKDVLSKEA
CCHHHHHHHHHCHHH		44.0921906983
577 (in isoform 1)Ubiquitination-44.0921890473
578UbiquitinationSTISILKDVLSKEAT
CHHHHHHHHHCHHHH		43.0522817900
582 (in isoform 2)Ubiquitination-47.4021890473
582 (in isoform 1)Ubiquitination-47.4021890473
582UbiquitinationILKDVLSKEATKRKI
HHHHHHCHHHHHCCE		47.4022817900
583UbiquitinationLKDVLSKEATKRKIN
HHHHHCHHHHHCCEE		59.1922817900
586UbiquitinationVLSKEATKRKINLNI
HHCHHHHHCCEEEEE		59.7622817900
587UbiquitinationLSKEATKRKINLNIS
HCHHHHHCCEEEEEE		40.5122817900
592UbiquitinationTKRKINLNISYEINE
HHCCEEEEEEEEECC		19.3722817900
593UbiquitinationKRKINLNISYEINEV
HCCEEEEEEEEECCE		5.3822817900
595PhosphorylationKINLNISYEINEVSV
CEEEEEEEEECCEEH		19.6125690035
597UbiquitinationNLNISYEINEVSVKH
EEEEEEEECCEEHHE		3.9622817900
598UbiquitinationLNISYEINEVSVKHT
EEEEEEECCEEHHEE		31.5122817900
601UbiquitinationSYEINEVSVKHTLKL
EEEECCEEHHEEHHH		21.1922817900
601PhosphorylationSYEINEVSVKHTLKL
EEEECCEEHHEEHHH		21.1925690035
602UbiquitinationYEINEVSVKHTLKLI
EEECCEEHHEEHHHH		6.7722817900
615PhosphorylationLIHPKLEYQLLLAKK
HHCCHHHHHHHHHHH		18.2019664994
621AcetylationEYQLLLAKKVQLIDA
HHHHHHHHHHHHHHH		54.14164225
622UbiquitinationYQLLLAKKVQLIDAL
HHHHHHHHHHHHHHH		29.61-
622AcetylationYQLLLAKKVQLIDAL
HHHHHHHHHHHHHHH		29.61164221
662UbiquitinationHLQEEYKKQPAHLER
HHHHHHHHCHHHHHH		61.6929967540
675PhosphorylationERLYGMITDLFIDKF
HHHHHHHHHHHHHHC		20.1127732954
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 BBS7_HUMAN !!
Functions of PTM Sites
Modified Location Modified Residue Modification Function Reference

Oops, there are no descriptions of PTM sites of BBS7_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 BBS7_HUMAN !!
Protein-Protein Interaction
Interacting Protein Gene Name Interaction Type PPI Reference Domain-Domain Interactions
ALDOB_HUMANALDOBphysical
18000879
K1C18_HUMANKRT18physical
18000879
PAX2_HUMANPAX2physical
18000879
FHOD1_HUMANFHOD1physical
18000879
PTHB1_HUMANBBS9physical
28514442
CNKR3_HUMANCNKSR3physical
28514442
BBS4_HUMANBBS4physical
28514442
ZN655_HUMANZNF655physical
28514442
BBS10_HUMANBBS10physical
28514442
CAMP3_HUMANCAMSAP3physical
28514442
BBS2_HUMANBBS2physical
28514442
TTC8_HUMANTTC8physical
28514442
MTO1_HUMANMTO1physical
28514442
H13_HUMANHIST1H1Dphysical
28514442
CE034_HUMANC5orf34physical
28514442
ALMS1_HUMANALMS1physical
28514442
Z518A_HUMANZNF518Aphysical
28514442
MADD_HUMANMADDphysical
28514442
RFWD3_HUMANRFWD3physical
28514442
PEAK1_HUMANPEAK1physical
28514442
INT6_HUMANINTS6physical
28514442
STIL_HUMANSTILphysical
28514442
FA83D_HUMANFAM83Dphysical
28514442
PMS1_HUMANPMS1physical
28514442
WIPI2_HUMANWIPI2physical
28514442
SMG8_HUMANSMG8physical
28514442
GRDN_HUMANCCDC88Aphysical
28514442
TRI37_HUMANTRIM37physical
28514442
CE164_HUMANCEP164physical
28514442
PWP2_HUMANPWP2physical
28514442
MIO_HUMANMIOSphysical
28514442
UBP54_HUMANUSP54physical
28514442
TASOR_HUMANFAM208Aphysical
28514442
GNL3L_HUMANGNL3Lphysical
28514442
WDR36_HUMANWDR36physical
28514442
MARH7_HUMANMARCH7physical
28514442
SIMC1_HUMANSIMC1physical
28514442
PER1_HUMANPER1physical
28514442
MYO1D_HUMANMYO1Dphysical
28514442
FBXL4_HUMANFBXL4physical
28514442
KANK2_HUMANKANK2physical
28514442
TT21A_HUMANTTC21Aphysical
27173435
Drug and Disease Associations
Kegg Disease
H00418 Bardet-Biedl syndrome (BBS)
OMIM Disease
Note=Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including BBS7, influence the clinical outcome.
615984
Kegg Drug
There are no disease associations of PTM sites.
DrugBank
There are no disease associations of PTM sites.
Regulatory Network of BBS7_HUMAN

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