DBR1

Protein identityUniProt · HPA

UniProt accession

Q9UK59

Gene

DBR1

Ensembl

ENSG00000138231

Chromosome

3

Canonical length

544 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm

OverviewNCBI Gene

The protein encoded by this gene is an RNA lariat debranching enzyme that hydrolyzes 2'-5' prime branched phosphodiester bonds. The encoded protein specifically targets the bonds at the branch point of excised lariat intron RNA, converting them to linear molecules that are then degraded. This protein may also be involved in retroviral replication. [provided by RefSeq, Nov 2011]

Canonical amino-acid sequenceUniProt

544 residues, UniProt reviewed canonical sequence.

>Q9UK59|DBR1
     1  MRVAVAGCCH GELDKIYETL ALAERRGPGP VDLLLCCGDF QAVRNEADLR CMAVPPKYRH
    61  MQTFYRYYSG EKKAPVLTLF IGGNHEASNH LQELPYGGWV APNIYYLGLA GVVKYRGVRI
   121  GGISGIFKSH DYRKGHFECP PYNSSTIRSI YHVRNIEVYK LKQLKQPIDI FLSHDWPRSI
   181  YHYGNKKQLL KTKSFFRQEV ENNTLGSPAA SELLEHLKPT YWFSAHLHVK FAALMQHQAK
   241  DKGQTARATK FLALDKCLPH RDFLQILEIE HDPSAPDYLE YDIEWLTILR ATDDLINVTG
   301  RLWNMPENNG LHARWDYSAT EEGMKEVLEK LNHDLKVPCN FSVTAACYDP SKPQTQMQLI
   361  HRINPQTTEF CAQLGIIDIN VRLQKSKEEH HVCGEYEEQD DVESNDSGED QSEYNTDTSA
   421  LSSINPDEIM LDEEEDEDSI VSAHSGMNTP SVEPSDQASE FSASFSDVRI LPGSMIVSSD
   481  DTVDSTIDRE GKPGGTVESG NGEDLTKVPL KRLSDEHEPE QRKKIKRRNQ AIYAAVDDDD
   541  DDAA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DBR1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.35

Highest tissue expression

9.9 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DBR1.

Disease | AllUniProt

Conditions DBR1 is implicated in, by any mechanism.

• Encephalitis, acute, infection (viral)-induced, 11 (IIAE11) MIM:619441
• Xerosis and growth failure with immune and pulmonary dysfunction syndrome (XGIP) MIM:620510

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 260 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Encephalitis, acute, infection (viral)-induced, susceptibility to, 11

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.02

gnomAD pLI

0

gnomAD missense Z

0.79

DepMap mean gene effect

-1.87

DepMap dependency class

pan

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 12% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• mRNA splicing, via spliceosome
• protein stabilization
• RNA splicing, via transesterification reactions
• RNA fragment catabolic process

Molecular functions

• metal ion binding
• RNA binding
• RNA lariat debranching enzyme activity

Cellular components

• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Calcineurin-like, phosphoesterase domain
• Metallo-dependent phosphatase-like
• Calcineurin-like phosphoesterase
• Lariat debranching enzyme, C-terminal
• Lariat debranching enzyme, N-terminal metallophosphatase domain
• Lariat debranching enzyme, C-terminal domain

KeywordsUniProt

• Acetylation
• Hydrolase
• Ichthyosis
• Iron
• Manganese
• Metal-binding
• mRNA processing
• Nucleus
• Phosphoprotein
• Zinc

InteractionsUniProt · HPA

Protein binding partners of DBR1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CSNK1A1