FAM111A
entrez
63901
canonical
uniprot
Q96PZ2
canonical
ensembl
ENSG00000166801
resolver
ensp
ENSP00000355264
resolver
ensp
ENSP00000406683
resolver
ensp
ENSP00000431631
resolver
ensp
ENSP00000432821
resolver
ensp
ENSP00000433154
resolver
ensp
ENSP00000434435
resolver
ensp
ENSP00000436128
resolver
ensp
ENSP00000501617
resolver
ensp
ENSP00000501771
resolver
ensp
ENSP00000501786
resolver
ensp
ENSP00000501909
resolver
ensp
ENSP00000501952
resolver
ensp
ENSP00000502754
resolver
ensp
ENSP00000507215
resolver
ensp
ENSP00000531349
resolver
ensp
ENSP00000531350
resolver
ensp
ENSP00000531351
resolver
ensp
ENSP00000531352
resolver
ensp
ENSP00000531353
resolver
ensp
ENSP00000531354
resolver
ensp
ENSP00000531355
resolver
ensp
ENSP00000531356
resolver
ensp
ENSP00000531357
resolver
ensp
ENSP00000531358
resolver
ensp
ENSP00000531359
resolver
ensp
ENSP00000531360
resolver
ensp
ENSP00000531361
resolver
ensp
ENSP00000531362
resolver
ensp
ENSP00000531363
resolver
ensp
ENSP00000592284
resolver
ensp
ENSP00000592285
resolver
ensp
ENSP00000592286
resolver
ensp
ENSP00000592287
resolver
ensp
ENSP00000592288
resolver
ensp
ENSP00000592289
resolver
ensp
ENSP00000592290
resolver
ensp
ENSP00000592291
resolver
ensp
ENSP00000592292
resolver
ensp
ENSP00000592293
resolver
ensp
ENSP00000592294
resolver
ensp
ENSP00000592295
resolver
ensp
ENSP00000592296
resolver
ensp
ENSP00000592297
resolver
ensp
ENSP00000592298
resolver
ensp
ENSP00000592299
resolver
ensp
ENSP00000592300
resolver
ensp
ENSP00000592301
resolver
ensp
ENSP00000592302
resolver
ensp
ENSP00000592303
resolver
ensp
ENSP00000592304
resolver
ensp
ENSP00000592305
resolver
ensp
ENSP00000627311
resolver
ensp
ENSP00000627312
resolver
ensp
ENSP00000627313
resolver
ensp
ENSP00000627314
resolver
ensp
ENSP00000627315
resolver
ensp
ENSP00000627316
resolver
ensp
ENSP00000627317
resolver
ensp
ENSP00000627318
resolver
ensp
ENSP00000627319
resolver
ensp
ENSP00000627320
resolver
ensp
ENSP00000627321
resolver
ensp
ENSP00000627322
resolver
ensp
ENSP00000627323
resolver
ensp
ENSP00000627324
resolver
ensp
ENSP00000627325
resolver
ensp
ENSP00000627326
resolver
ensp
ENSP00000627327
resolver
ensp
ENSP00000627328
resolver
ensp
ENSP00000627329
resolver
ensp
ENSP00000627330
resolver
enst
ENST00000361723
resolver
enst
ENST00000420244
resolver
enst
ENST00000527629
resolver
enst
ENST00000528737
resolver
enst
ENST00000529985
resolver
enst
ENST00000531147
resolver
enst
ENST00000531408
resolver
enst
ENST00000533703
resolver
enst
ENST00000674617
resolver
enst
ENST00000675163
resolver
enst
ENST00000675806
resolver
enst
ENST00000676340
resolver
enst
ENST00000676459
resolver
enst
ENST00000682018
resolver
enst
ENST00000861290
resolver
enst
ENST00000861291
resolver
enst
ENST00000861292
resolver
enst
ENST00000861293
resolver
enst
ENST00000861294
resolver
enst
ENST00000861295
resolver
enst
ENST00000861296
resolver
enst
ENST00000861297
resolver
enst
ENST00000861298
resolver
enst
ENST00000861299
resolver
enst
ENST00000861300
resolver
enst
ENST00000861301
resolver
enst
ENST00000861302
resolver
enst
ENST00000861303
resolver
enst
ENST00000861304
resolver
enst
ENST00000922225
resolver
enst
ENST00000922226
resolver
enst
ENST00000922227
resolver
enst
ENST00000922228
resolver
enst
ENST00000922229
resolver
enst
ENST00000922230
resolver
enst
ENST00000922231
resolver
enst
ENST00000922232
resolver
enst
ENST00000922233
resolver
enst
ENST00000922234
resolver
enst
ENST00000922235
resolver
enst
ENST00000922236
resolver
enst
ENST00000922237
resolver
enst
ENST00000922238
resolver
enst
ENST00000922239
resolver
enst
ENST00000922240
resolver
enst
ENST00000922241
resolver
enst
ENST00000922242
resolver
enst
ENST00000922243
resolver
enst
ENST00000922244
resolver
enst
ENST00000922245
resolver
enst
ENST00000922246
resolver
enst
ENST00000957252
resolver
enst
ENST00000957253
resolver
enst
ENST00000957254
resolver
enst
ENST00000957255
resolver
enst
ENST00000957256
resolver
enst
ENST00000957257
resolver
enst
ENST00000957258
resolver
enst
ENST00000957259
resolver
enst
ENST00000957260
resolver
enst
ENST00000957261
resolver
enst
ENST00000957262
resolver
enst
ENST00000957263
resolver
enst
ENST00000957264
resolver
enst
ENST00000957265
resolver
enst
ENST00000957266
resolver
enst
ENST00000957267
resolver
enst
ENST00000957268
resolver
enst
ENST00000957269
resolver
enst
ENST00000957270
resolver
enst
ENST00000957271
resolver
genesymbol
FAM111A
resolver
genesymbol_syn
KIAA1895
resolver
hgnc
HGNC:24725
resolver
uniprot
A8K5Y8
resolver
uniprot
Q5RKS9
resolver
uniprot
Q5XKM2
resolver
uniprot
Q68DK9
resolver
uniprot
Q6IPR7
resolver
uniprot
Q9H5Y1
resolver
uniprot_entry
F111A_HUMAN
resolver
uniprot_sec
A8K5Y8
resolver
uniprot_sec
Q5RKS9
resolver
uniprot_sec
Q5XKM2
resolver
uniprot_sec
Q68DK9
resolver
uniprot_sec
Q6IPR7
resolver
uniprot_sec
Q9H5Y1
resolver
amino_acid_sequence
MSCKKQRSRKHSVNEKCNMKIEHYFSPVSKEQQNNCSTSLMRMESRGDPRATTNTQAQRFHSPKKNPEDQTMPQNRTIYVTLKVNHRRNQDMKLKLTHSENSSLYMALNTLQAVRKEIETHQGQEMLVRGTEGIKEYINLGMPLSCFPEGGQVVITFSQSKSKQKEDNHIFGRQDKASTECVKFYIHAIGIGKCKRRIVKCGKLHKKGRKLCVYAFKGETIKDALCKDGRFLSFLENDDWKLIENNDTILESTQPVDELEGRYFQVEVEKRMVPSAAASQNPESEKRNTCVLREQIVAQYPSLKRESEKIIENFKKKMKVKNGETLFELHRTTFGKVTKNSSSIKVVKLLVRLSDSVGYLFWDSATTGYATCFVFKGLFILTCRHVIDSIVGDGIEPSKWATIIGQCVRVTFGYEELKDKETNYFFVEPWFEIHNEELDYAVLKLKENGQQVPMELYNGITPVPLSGLIHIIGHPYGEKKQIDACAVIPQGQRAKKCQERVQSKKAESPEYVHMYTQRSFQKIVHNPDVITYDTEFFFGASGSPVFDSKGSLVAMHAAGFAYTYQNETRSIIEFGSTMESILLDIKQRHKPWYEEVFVNQQDVEMMSDEDL
uniprot
proteins
disease_involvement
DISEASE: Kenny-Caffey syndrome 2 (KCS2) [MIM:127000]: A disorder characterized by impaired skeletal development with small and dense bones, short stature, and primary hypoparathyroidism with hypocalcemia. Clinical features include cortical thickening and medullary stenosis of the tubular bones, delayed closure of fontanels, defective dentition, small eyes with hypermetropia, and frontal bossing with a triangular face. {ECO:0000269|PubMed:23684011, ECO:0000269|PubMed:23996431, ECO:0000269|PubMed:24635597, ECO:0000269|PubMed:32165630}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Gracile bone dysplasia (GCLEB) [MIM:602361]: A perinatally lethal condition characterized by narrowing of the medullary cavity of the long bones and of the skull, gracile bones with thin diaphyses, premature closure of basal cranial sutures, and microphthalmia. Most affected individuals who survive beyond the perinatal period develop hypocalcemia with low parathyroid hormone levels. {ECO:0000269|PubMed:23684011, ECO:0000269|PubMed:32165630}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.21.-
uniprot
proteins
function
FUNCTION: Single-stranded DNA-binding serine protease that mediates the proteolytic cleavage of covalent DNA-protein cross-links (DPCs) during DNA synthesis, thereby playing a key role in maintaining genomic integrity (PubMed:32165630). DPCs are highly toxic DNA lesions that interfere with essential chromatin transactions, such as replication and transcription, and which are induced by reactive agents, such as UV light or formaldehyde (PubMed:32165630). Protects replication fork from stalling by removing DPCs, such as covalently trapped topoisomerase 1 (TOP1) adducts on DNA lesion, or poly(ADP-ribose) polymerase 1 (PARP1)-DNA complexes trapped by PARP inhibitors (PubMed:32165630). Required for PCNA loading on replication sites (PubMed:24561620). Promotes S-phase entry and DNA synthesis (PubMed:24561620). Also acts as a restriction factor for some viruses including SV40 polyomavirus and vaccinia virus (PubMed:23093934, PubMed:37607234). Mechanistically, affects nuclear barrier function during viral replication by mediating the disruption of the nuclear pore complex (NPC) via its protease activity (PubMed:33369867, PubMed:37607234). In turn, interacts with vaccinia virus DNA-binding protein OPG079 in the cytoplasm and promotes its degradation without the need of its protease activity but through autophagy (PubMed:37607234). {ECO:0000269|PubMed:24561620, ECO:0000269|PubMed:32165630, ECO:0000269|PubMed:37607234}.
uniprot
proteins
mass_dalton
70196
uniprot
proteins
mutagenesis
MUTAGEN 24..25; /note="YF->AA: In PIPmt; affects subcellular localization. Impaired PCNA stability and chromatin binding. Does not affect protease activity."; /evidence="ECO:0000269|PubMed:24561620, ECO:0000269|PubMed:32165630"; MUTAGEN 231; /note="F->A: Strongly decreased single-stranded DNA-binding."; /evidence="ECO:0000269|PubMed:32165630"; MUTAGEN 334; /note="F->R,G: Abolished autocatalytic cleavage."; /evidence="ECO:0000269|PubMed:32165630"; MUTAGEN 541; /note="S->A: Abolished protease activity."; /evidence="ECO:0000269|PubMed:32165630, ECO:0000269|PubMed:33369867, ECO:0000269|PubMed:37607234
uniprot
proteins
post_translational_modification
PTM: Autocatalytically cleaved; activating the protein (PubMed:32165630). Autocatalytic cleavage takes place in trans (PubMed:32165630). {ECO:0000269|PubMed:32165630}.
uniprot
proteins
protein_family
FAM111 family
uniprot
proteins
pubmed
11572484
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
23093934
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23684011
uniprot
proteins
pubmed
23996431
uniprot
proteins
pubmed
24561620
uniprot
proteins
pubmed
24635597
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
32165630
uniprot
proteins
pubmed
33369867
uniprot
proteins
pubmed
37607234
uniprot
proteins
sequence_length
611
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23093934, ECO:0000269|PubMed:24561620, ECO:0000269|PubMed:37607234}. Chromosome {ECO:0000269|PubMed:24561620}. Cytoplasm {ECO:0000269|PubMed:23093934, ECO:0000269|PubMed:37607234}. Note=Mainly localizes to nucleus: colocalizes with PCNA on replication sites. {ECO:0000269|PubMed:24561620}.
uniprot
proteins