PDB ID 4P6Z     CHAIN B
Protein name AP-1 complex subunit beta-1
Uniprot Accession Q10567
The number of similar proteins 13
The number of binding states 8
The number of binding partners 7

Coloring

Unicolor (beige)

The number of binding partners

Group

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  4
  3
  2
  1
  0

Sequence information

1   MGSSHHHHHH   SQDPNSMTDS   KYFTTTKKGE   IFELKAELNS   DKKEKKKEAV   50
51   KKVIASMTVG   KDVSALFPDV   VNCMQTDNLE   LKKLVYLYLM   NYAKSQPDMA   100
101   IMAVNTFVKD   CEDPNPLIRA   LAVRTMGCIR   VDKITEYLCE   PLRKCLKDED   150
151   PYVRKTAAVC   VAKLHDINAQ   LVEDQGFLDT   LKDLISDSNP   MVVANAVAAL   200
201   SEIAESHPSS   NLLDLNPQSI   NKLLTALNEC   TEWGQIFILD   CLANYMPKDD   250
251   REAQSICERV   TPRLSHANSA   VVLSAVKVLM   KFMEMLSKDL   DYYGTLLKKL   300
301   APPLVTLLSA   EPELQYVALR   NINLIVQKRP   EILKHEMKVF   FVKYNDPIYV   350
351   KLEKLDIMIR   LASQANIAQV   LAELKEYATE   VDVDFVRKAV   RAIGRCAIKV   400
401   EQSAERCVST   LLDLIQTKVN   YVVQEAIVVI   KDIFRKYPNK   YESVIAALCE   450
451   NLDSLDEPEA   RAAMIWIVGE   YAERIDNADE   LLESFLEGFH   DKSTQVQLQL   500
501   LTAIVKLFLK   KPTETQELVQ   QVLSLATQDS   DNPDLRDRGY   IYWRLLSTDP   550
551   VAAKEVVLAE   KPLISEETDL   IEPTLLDELI   CYIGTLASVY   HKPPSAFVEG   600

Variants

Residue AA Source dbSNP Clinical
Significance
Allele
Frequency
(> 0.0001)
Disease name
22_LEU PHE 8.3kJPN
chr22:29759069
-
- 0.0001 -
23_ASN SER 8.3kJPN
chr17:33925279
-
- 0.0001 -
56_ASN SER 8.3kJPN
chr22:29755925
rs1228125102
- 0.0001 -
78_LYS ARG 8.3kJPN
chr22:29755859
-
- 0.0001 -
86_MET LEU 8.3kJPN
chr22:29755836
-
- 0.0001 -
108_ARG TRP ClinVar
chr22:29754918
rs1160266009
Pathogenic - Autosomal recessive keratitis-ichthyosis-deafness syndrome [MONDO:MONDO:0009440,MedGen:C1275089,OMIM:242150,Orphanet:477]
114_ARG GLN 8.3kJPN
chr17:33935222
-
- 0.0001 -
114_ARG CYS 8.3kJPN
chr22:29754900
-
- 0.0001 -
141_ALA VAL 8.3kJPN
chr22:29754818
-
- 0.0001 -
144_CYS ARG VAR_083524 rs1602749299
LP/P - Keratitis-ichthyosis-deafness syndrome, autosomal recessive (KIDAR) [MIM:242150]
144_CYS ARG ClinVar
chr22:29754810
rs1602749299
Pathogenic - Autosomal recessive keratitis-ichthyosis-deafness syndrome [MONDO:MONDO:0009440,MedGen:C1275089,OMIM:242150,Orphanet:477]
181_VAL ILE gnomAD
chr17:33951431
rs180860333
- 0.000772053 -
204_ILE VAL 8.3kJPN
chr22:29752521
-
- 0.0001 -
205_ASN SER 8.3kJPN
chr22:29752517
rs772647244
- 0.0002 -
212_ASN LYS 8.3kJPN
chr22:29752495
-
- 0.0001 -
222_ILE VAL 8.3kJPN
chr17:33951554
rs757684565
- 0.0001 -
223_LEU PRO ClinVar
chr22:29752463
rs2147995205
Pathogenic - Autosomal recessive keratitis-ichthyosis-deafness syndrome [MONDO:MONDO:0009440,MedGen:C1275089,OMIM:242150,Orphanet:477]
235_ARG HIS gnomAD
chr22:29752427
rs140871358
- 0.000168094 -
235_ARG HIS 8.3kJPN
chr22:29752427
rs140871358
- 0.0001 -
273_ASP TYR 8.3kJPN
chr17:33953740
-
- 0.0001 -
285_ALA SER 8.3kJPN
chr22:29750724
-
- 0.0001 -
307_ASN SER 8.3kJPN
chr22:29750657
rs747391498
- 0.0001 -
319_HIS GLN 8.3kJPN
chr22:29747796
-
- 0.0006 -
323_VAL MET 8.3kJPN
chr22:29747786
-
- 0.0001 -
371_ARG GLN 8.3kJPN
chr22:29747203
rs751083657
- 0.0001 -
390_ARG HIS 8.3kJPN
chr22:29746126
rs754230380
- 0.0001 -
411_ILE THR 8.3kJPN
chr17:33963436
-
- 0.0001 -
420_LYS GLN 8.3kJPN
chr17:33963462
-
- 0.0001 -
420_LYS THR 8.3kJPN
chr17:33963463
-
- 0.0001 -
420_LYS ASN 8.3kJPN
chr17:33963464
-
- 0.0001 -
421_TYR TER ClinVar
chr22:29746032
rs2147978539
Pathogenic - Autosomal recessive keratitis-ichthyosis-deafness syndrome [MONDO:MONDO:0009440,MedGen:C1275089,OMIM:242150,Orphanet:477]
426_GLU GLY 8.3kJPN
chr17:33966619
-
- 0.0001 -
427_SER GLY 8.3kJPN
chr17:33966621
-
- 0.0001 -
434_GLU LYS 8.3kJPN
chr22:29745344
rs759728681
- 0.0001 -
435_ASN ASP 8.3kJPN
chr22:29745341
-
- 0.0001 -
446_ALA THR gnomAD
chr22:29745308
rs543593960
- 0.000175152 -
448_MET VAL 8.3kJPN
chr17:33966684
-
- 0.0002 -
462_ALA PRO 8.3kJPN
chr17:33966726
-
- 0.0001 -
476_GLU LYS 8.3kJPN
chr22:29745218
rs576191808
- 0.0003 -
534_PRO THR 8.3kJPN
chr22:29737686
rs750013781
- 0.0003 -
542_LEU VAL 8.3kJPN
chr22:29737662
-
- 0.0001 -
551_GLU ASP gnomAD
chr22:29737633
rs200248984
- 0.000298317 -
566_TYR HIS 8.3kJPN
chr22:29737590
rs756098869
- 0.0003 -
568_GLY SER 8.3kJPN
chr22:29737584
rs371236685
- 0.0001 -
579_SER GLY gnomAD
chr22:29737551
rs200628910
- 0.000437595 -
579_ASN SER 8.3kJPN
chr17:33977748
rs377040347
- 0.0001 -
579_SER GLY 8.3kJPN
chr22:29737551
rs200628910
- 0.0011 -
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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.