PAN2
entrez
9924
canonical
uniprot
Q504Q3
canonical
ensembl
ENSG00000135473
resolver
ensp
ENSP00000257931
resolver
ensp
ENSP00000388231
resolver
ensp
ENSP00000401721
resolver
ensp
ENSP00000481859
resolver
ensp
ENSP00000555875
resolver
ensp
ENSP00000555876
resolver
ensp
ENSP00000555877
resolver
ensp
ENSP00000555879
resolver
ensp
ENSP00000585436
resolver
ensp
ENSP00000624185
resolver
ensp
ENSP00000624186
resolver
genesymbol
PAN2
resolver
genesymbol_syn
KIAA0710
resolver
genesymbol_syn
USP52
resolver
hgnc
HGNC:20074
resolver
uniprot
O75189
resolver
uniprot
Q76E12
resolver
uniprot
Q8IVE1
resolver
uniprot_entry
PAN2_HUMAN
resolver
uniprot_sec
O75189
resolver
uniprot_sec
Q76E12
resolver
uniprot_sec
Q8IVE1
resolver
activity_regulation
ACTIVITY REGULATION: Positively regulated by the regulatory subunit PAN3. {ECO:0000255|HAMAP-Rule:MF_03182}.
uniprot
proteins
amino_acid_sequence
MNFEGLDPGLAEYAPAMHSALDPVLDAHLNPSLLQNVELDPEGVALEALPVQESVHIMEGVYSELHSVVAEVGVPVSVSHFDLHEEMLWVGSHGGHATSFFGPALERYSSFQVNGSDDIRQIQSLENGILFLTKNNLKYMARGGLIIFDYLLDENEDMHSLLLTDSSTLLVGGLQNHIIEIDLNTVQETQKYAVETPGVTIMRQTNRFFFCGHTSGKVSLRDLRTFKVEHEFDAFSGSLSDFDVHGNLLAACGFSSRLTGLACDRFLKVYDLRMMRAITPLQVHVDPAFLRFIPTYTSRLAIISQSGQCQFCEPTGLANPADIFHVNPVGPLLMTFDVSASKQALAFGDSEGCVHLWTDSPEPSFNPYSRETEFALPCLVDSLPPLDWSQDLLPLSLIPVPLTTDTLLSDWPAANSAPAPRRAPPVDAEILRTMKKVGFIGYAPNPRTRLRNQIPYRLKESDSEFDSFSQVTESPVGREEEPHLHMVSKKYRKVTIKYSKLGLEDFDFKHYNKTLFAGLEPHIPNAYCNCMIQVLYFLEPVRCLIQNHLCQKEFCLACELGFLFHMLDLSRGDPCQGNNFLRAFRTIPEASALGLILADSDEASGKGNLARLIQRWNRFILTQLHQDMQELEIPQAYRGAGGSSFCSSGDSVIGQLFSCEMENCSLCRCGSETVRASSTLLFTLSYPDGSKSDKTGKNYDFAQVLKRSICLDQNTQAWCDTCEKYQPTIQTRNIRHLPDILVINCEVNSSKEADFWRMQAEVAFKMAVKKHGGEISKNKEFALADWKELGSPEGVLVCPSIEELKNVWLPFSIRMKMTKNKGLDVCNWTDGDEMQWGPARAEEEHGVYVYDLMATVVHILDSRTGGSLVAHIKVGETYHQRKEGVTHQQWYLFNDFLIEPIDKHEAVQFDMNWKVPAILYYVKRNLNSRYNLNIKNPIEASVLLAEASLARKQRKTHTTFIPLMLNEMPQIGDLVGLDAEFVTLNEEEAELRSDGTKSTIKPSQMSVARITCVRGQGPNEGIPFIDDYISTQEQVVDYLTQYSGIKPGDLDAKISSKHLTTLKSTYLKLRFLIDIGVKFVGHGLQKDFRVINLMVPKDQVLDTVYLFHMPRKRMISLRFLAWYFLDLKIQGETHDSIEDARTALQLYRKYLELSKNGTEPESFHKVLKGLYEKGRKMDWKVPEPEGQTSPKNAAVFSSVLAL
uniprot
proteins
disease_involvement
DISEASE: Developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies (DEDCRF) [MIM:621384]: An autosomal recessive disorder characterized by developmental delay, mild to moderate intellectual disability, and hypotonia. Additional variable features include congenital heart defects, urinary tract and renal malformations, ophthalmological anomalies, sensorineural hearing loss, short stature with other skeletal anomalies, and craniofacial dysmorphism. {ECO:0000269|PubMed:29620724, ECO:0000269|PubMed:35304602, ECO:0000269|PubMed:40491293}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.13.4
uniprot
proteins
function
FUNCTION: Catalytic subunit of the poly(A)-nuclease (PAN) deadenylation complex, one of two cytoplasmic mRNA deadenylases involved in general and miRNA-mediated mRNA turnover. PAN specifically shortens poly(A) tails of RNA and the activity is stimulated by poly(A)-binding protein (PABP). PAN deadenylation is followed by rapid degradation of the shortened mRNA tails by the CCR4-NOT complex. Deadenylated mRNAs are then degraded by two alternative mechanisms, namely exosome-mediated 3'-5' exonucleolytic degradation, or deadenylation-dependent mRNA decaping and subsequent 5'-3' exonucleolytic degradation by XRN1. Also acts as an important regulator of the HIF1A-mediated hypoxic response. Required for HIF1A mRNA stability independent of poly(A) tail length regulation. {ECO:0000255|HAMAP-Rule:MF_03182, ECO:0000269|PubMed:14583602, ECO:0000269|PubMed:16284618, ECO:0000269|PubMed:23398456}.
uniprot
proteins
mass_dalton
135368
uniprot
proteins
mutagenesis
MUTAGEN 1087; /note="D->A: Loss of exonuclease activity."; /evidence="ECO:0000269|PubMed:14583602
uniprot
proteins
protein_family
PAN2 subfamily
uniprot
proteins
protein_family
Peptidase C19 family
uniprot
proteins
pubmed
14583602
uniprot
proteins
pubmed
14715245
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16284618
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
18625844
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23398456
uniprot
proteins
pubmed
23932717
uniprot
proteins
pubmed
28559491
uniprot
proteins
pubmed
29620724
uniprot
proteins
pubmed
35304602
uniprot
proteins
pubmed
40491293
uniprot
proteins
pubmed
9734811
uniprot
proteins
sequence_length
1202
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14583602, ECO:0000269|PubMed:16284618}. Cytoplasm, P-body {ECO:0000255|HAMAP-Rule:MF_03182, ECO:0000269|PubMed:18625844, ECO:0000269|PubMed:23398456}. Nucleus {ECO:0000255|HAMAP-Rule:MF_03182, ECO:0000269|PubMed:16284618}. Note=Shuttles between nucleus and cytoplasm. {ECO:0000255|HAMAP-Rule:MF_03182, ECO:0000269|PubMed:16284618}.
uniprot
proteins