PDB ID 4AP2     CHAIN B
Protein name CULLIN-3
Uniprot Accession Q13618
The number of similar proteins 7
The number of binding states 4
The number of binding partners 4

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
4AP2 (CHAIN: B)
1 Q9NVR0  
2 P24768  
3 Q9UH77  
4 O43791  

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Only interaction residues
#binding
partners
  4
  3
  2
  1
  0

Sequence information

1   MSNLSKGTGS   RKDTKMRIRA   FPMTMDEKYV   NSIWDLLKNA   IQEIQRKNNS   50
51   GLSFEELYRN   AYTMVLHKHG   EKLYTGLREV   VTEHLINKVR   EDVLNSLNNN   100
101   FLQTLNQAWN   DHQTAMVMIR   DILMYMDRVY   VQQNNVENVY   NLGLIIFRDQ   150
151   VVRYGCIRDH   LRQTLLDMIA   RERKGEVVDR   GAIRNACQML   MILGLEGRSV   200
201   YEEDFEAPFL   EMSAEFFQME   SQKFLAENSA   SVYIKKVEAR   INEEIERVMH   250
251   CLDKSTEEPI   VKVVERELIS   KHMKTIVEME   NSGLVHMLKN   GKTEDLGCMY   300
301   KLFSRVPNGL   KTMCECMSSY   LREQGKALVS   EEGEGKNPVD   YRQGLDDLKS   350
351   RFDRFLLESF   NNDRLFKQTI   AGDFEYFLNL   NSRSPEYLAE   NLYFQSHHHH   400
401   HHDYKDDDDK           450

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
32_SER ASN 8.3kJPN
chr2:225422545 		-
- 0.0001 -
58_TYR CYS ClinVar
chr2:225422467 		rs1553535841
Likely pathogenic - not provided|Autosomal dominant pseudohypoaldosteronism type 1|NEURODEVELOPMENTAL DISORDER WITHOUT AUTISM OR SEIZURES [MedGen:CN517202|MONDO:MONDO:0008329,MedGen:C1449842,OMIM:177735,Orphanet:171871,Orphanet:756|]
62_TYR CYS ClinVar
chr2:225422455 		-
Likely pathogenic - not provided [MedGen:CN517202]
85_LEU PRO ClinVar
chr2:225422386 		-
Pathogenic - not provided [MedGen:C3661900]
90_ARG TER ClinVar
chr2:225400355 		-
Pathogenic - not provided [MedGen:CN517202]
128_ARG CYS ClinVar
chr2:225379486 		-
Likely pathogenic - not provided [MedGen:CN517202]
148_ARG TER ClinVar
chr2:225379426 		-
Pathogenic - not provided [MedGen:C3661900]
150_GLN ARG 8.3kJPN
chr2:225379419 		-
- 0.0001 -
153_ARG HIS 8.3kJPN
chr2:225379410 		rs972626651
- 0.0001 -
178_VAL ILE 8.3kJPN
chr2:225379336 		rs1200173088
- 0.0001 -
184_ARG SER VAR_048839 rs17480168
LB/B - -
188_GLN TER ClinVar
chr2:225378333 		rs2106221030
Likely pathogenic - Neurodevelopmental disorder [MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926]
193_LEU TER ClinVar
chr2:225378317 		rs2106220962
Pathogenic - Complex neurodevelopmental disorder [MONDO:MONDO:0100038,MedGen:C5568766]
199_SER TER ClinVar
chr2:225378299 		rs981700726
Pathogenic - NEURODEVELOPMENTAL DISORDER WITH AUTISM WITHOUT SEIZURES [-]
203_GLU TER ClinVar
chr2:225378288 		-
Pathogenic - not provided [MedGen:C3661900]
214_ALA GLY ClinVar
chr2:225378254 		rs1692920727
Pathogenic - Pseudohypoaldosteronism type 2E [MONDO:MONDO:0013782,MedGen:C3469606,OMIM:614496,Orphanet:300530,Orphanet:757]
218_GLN TER ClinVar
chr2:225378243 		-
Pathogenic - Neurodevelopmental disorder with or without autism or seizures [MONDO:MONDO:0030994,MedGen:C5543225,OMIM:619239]
247_ARG TER ClinVar
chr2:225376215 		rs201496024
Pathogenic - not provided [MedGen:CN517202]
271_LYS ARG gnomAD
chr2:225376142 		rs747230483
- 0.000194967 -
285_VAL ALA VAR_085407 rs1343840421
LP/P - Neurodevelopmental disorder with or without autism or seizures (NEDAUS) [MIM:619239]
285_VAL ALA ClinVar
chr2:225376100 		rs1343840421
Pathogenic - Neurodevelopmental disorder without autism with seizures [-]
286_HIS ARG 8.3kJPN
chr2:225376097 		rs530205226
- 0.0001 -
291_GLY GLU 8.3kJPN
chr2:225376082 		-
- 0.0001 -
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Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

COPYRIGHTc2008-2019 Miho Higurashi, Takashi Ishida and Kengo Kinoshita. All rights reserved.