PALB2 Y28C [nucleoplasm]

Stable Identifier
R-HSA-9724169
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
PALB2 Tyr28Cys
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
31636395 Functional characterization of 84 PALB2 variants of uncertain significance

Simard, J, Xia, B, Hu, C, Foo, TK, Carvalho, MA, Rodrigue, A, Belur Nagaraj, A, Gomes, TT, Couch, FJ, Masson, JY, Lee, KY, Wiltshire, T, Monteiro, ANA, Ducy, M

Genet Med 2020
31757951 Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2

Simard, J, Couch, F, Vroling, B, Celosse, N, Stoepker, C, Rodrigue, A, Rother, MB, Wiegant, WW, Vreeswijk, MPG, Boonen, RACM, van Attikum, H, Devilee, P, Sharma, M, Masson, JY

Nat Commun 2019
28319063 Compromised BRCA1-PALB2 interaction is associated with breast cancer risk

Burke, KA, Foo, TK, Boshari, T, Xia, B, Riaz, N, Neuhausen, SL, Reis-Filho, JS, Foulkes, WD, Tischkowitz, M, Blecua, P, Zayed, N, Ding, YC, Weigelt, B, Simhadri, S, Berman, SH, Huo, Y

Oncogene 2017
31586400 A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor

Milano, L, Simard, J, Montalban, G, Carvalho, MA, Ara├║jo da Silva, W, Coulombe, Y, De-Gregoriis, G, Rodrigue, A, Monteiro, AN, Dellaire, G, Torres Gomes, T, Masson, JY, Ducy, M, da Costa E Silva Carvalho, S, Margaillan, G

Nucleic Acids Res 2019
External Reference Information
External Reference
Gene Names
PALB2, FANCN
Chain
chain:1-1186
Reference Transcript
Other Identifiers
0004480538
11722944_at
16825104
219530_at
3685330
3685331
3685332
3685333
3685335
3685337
3685338
3685339
3685341
3685344
3685345
3685346
3685347
3685348
3685349
3685350
3685351
3685352
3685354
3685355
3685358
3685359
47111_at
79728
8000329
A_23_P129569
GE87453
GO:0000724
GO:0001701
GO:0001756
GO:0001833
GO:0003674
GO:0003677
GO:0005515
GO:0005575
GO:0005622
GO:0005634
GO:0005654
GO:0006259
GO:0006281
GO:0006310
GO:0006950
GO:0006974
GO:0007498
GO:0008150
GO:0008219
GO:0008283
GO:0009790
GO:0009887
GO:0032991
GO:0034641
GO:0035264
GO:0036342
GO:0040007
GO:0043066
GO:0043226
GO:0048568
GO:0048646
GO:0048856
HMNXSV003032667
ILMN_1723793
PH_hs_0025983
TC16000967.hg
g13375939_3p_at
Participates
Other forms of this molecule
Modified Residues
Name
L-tyrosine 28 replaced with L-cysteine
Coordinate
28
PsiMod
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
A protein modification that effectively removes or replaces an L-tyrosine.
Disease
Name Identifier Synonyms
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
breast cancer DOID:1612 malignant tumor of the breast, mammary cancer, malignant neoplasm of breast, mammary tumor, primary breast cancer, breast cancer, Ca breast - NOS, breast tumor
Cross References
RefSeq
ClinGen
OpenTargets
GeneCards
PRO
Pharos - Targets
GlyGen
Orphanet
PDB
Interactors (11)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:P51587 BRCA2  2 0.969 25
 UniProt:P38398 BRCA1  20 0.909 27
 UniProt:Q06609 RAD51  2 0.8 8
 UniProt:Q9UBU8-2 MORF4L1      0.713 3
 UniProt:Q9Y253 POLH  2 0.672 7
 UniProt:Q14145 KEAP1  2 0.666 4
 UniProt:O43502 RAD51C  1 0.612 10
 UniProt:O43542 XRCC3  1 0.577 3
 IntAct:EBI-4399559 UBIQ      0.544 2
 UniProt:Q9UBU8 MORF4L1  1 0.527 2
 UniProt:P51784 USP11  1 0.499 2
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