DBR1
entrez
51163
canonical
uniprot
Q9UK59
canonical
ensembl
ENSG00000138231
resolver
ensp
ENSP00000260803
resolver
genesymbol
DBR1
resolver
hgnc
HGNC:15594
resolver
uniprot
Q96GH0
resolver
uniprot
Q9NXQ6
resolver
uniprot_entry
DBR1_HUMAN
resolver
uniprot_sec
Q96GH0
resolver
uniprot_sec
Q9NXQ6
resolver
activity_regulation
ACTIVITY REGULATION: Active in presence of diverse metals including Fe(2+), Zn(2+), Mn(2+) (By similarity). Also activated by Ca(2+) (PubMed:2435736). Binds two metal cations in two adjacent alpha and beta metal-binding pockets (By similarity). {ECO:0000250|UniProtKB:P24309, ECO:0000269|PubMed:2435736}.
uniprot
proteins
amino_acid_sequence
MRVAVAGCCHGELDKIYETLALAERRGPGPVDLLLCCGDFQAVRNEADLRCMAVPPKYRHMQTFYRYYSGEKKAPVLTLFIGGNHEASNHLQELPYGGWVAPNIYYLGLAGVVKYRGVRIGGISGIFKSHDYRKGHFECPPYNSSTIRSIYHVRNIEVYKLKQLKQPIDIFLSHDWPRSIYHYGNKKQLLKTKSFFRQEVENNTLGSPAASELLEHLKPTYWFSAHLHVKFAALMQHQAKDKGQTARATKFLALDKCLPHRDFLQILEIEHDPSAPDYLEYDIEWLTILRATDDLINVTGRLWNMPENNGLHARWDYSATEEGMKEVLEKLNHDLKVPCNFSVTAACYDPSKPQTQMQLIHRINPQTTEFCAQLGIIDINVRLQKSKEEHHVCGEYEEQDDVESNDSGEDQSEYNTDTSALSSINPDEIMLDEEEDEDSIVSAHSGMNTPSVEPSDQASEFSASFSDVRILPGSMIVSSDDTVDSTIDREGKPGGTVESGNGEDLTKVPLKRLSDEHEPEQRKKIKRRNQAIYAAVDDDDDDAA
uniprot
proteins
disease_involvement
DISEASE: Encephalitis, acute, infection (viral)-induced, 11 (IIAE11) [MIM:619441]: An autosomal recessive disorder characterized by increased susceptibility to viral encephalitis affecting the brainstem and induced by neurotropic viruses, such as herpes simplex virus-1, influenza B virus or norovirus. {ECO:0000269|PubMed:29474921}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Xerosis and growth failure with immune and pulmonary dysfunction syndrome (XGIP) [MIM:620510]: An autosomal recessive disorder characterized by premature birth, severe intrauterine growth deficiency, congenital ichthyosis-like features such as collodion membrane, severe skin peeling and xerosis, and death before the first year of life. Patients also exhibit bronchopulmonary disease, thrombocytopenia, and neutropenia. Additional variable features include cardiac anomalies, seizures, encephalopathy, cholestasis, and cataract. {ECO:0000269|PubMed:37656279}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.4.-
uniprot
proteins
function
FUNCTION: Cleaves the 2'-5' phosphodiester linkage at the branch point of excised lariat intron RNA and converts them into linear molecules that can be subsequently degraded, thereby facilitating ribonucleotide turnover (PubMed:10982890, PubMed:16232320, PubMed:2435736). Linked to its role in pre-mRNA processing mechanism, may also participate in retrovirus replication via an RNA lariat intermediate in cDNA synthesis and have an antiviral cell-intrinsic defense function in the brainstem (PubMed:16232320, PubMed:29474921). {ECO:0000269|PubMed:10982890, ECO:0000269|PubMed:16232320, ECO:0000269|PubMed:2435736, ECO:0000269|PubMed:29474921}.
uniprot
proteins
mass_dalton
61555
uniprot
proteins
mutagenesis
MUTAGEN 85; /note="H->N: No effect on protein abundance. Loss of RNA lariat debranching enzyme activity."; /evidence="ECO:0000269|PubMed:29474921
uniprot
proteins
protein_family
Lariat debranching enzyme family
uniprot
proteins
pubmed
10982890
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16232320
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
2435736
uniprot
proteins
pubmed
29474921
uniprot
proteins
pubmed
37656279
uniprot
proteins
pubmed
41422678
uniprot
proteins
sequence_length
544
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:41422678}.
uniprot
proteins