USB1

Protein identityUniProt · HPA

UniProt accession

Q9BQ65

Gene

USB1

Ensembl

ENSG00000103005

Chromosome

16

Canonical length

265 aa

Protein class

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

Subcellular location

Nucleoplasm

OverviewNCBI Gene

This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in this gene are associated with poikiloderma with neutropenia (PN), which shows phenotypic overlap with Rothmund-Thomson syndrome (RTS) caused by mutations in the RECQL4 gene. It is believed that this gene product interacts with RECQL4 protein via SMAD4 proteins, explaining the partial clinical overlap between PN and RTS. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]

Canonical amino-acid sequenceUniProt

265 residues, UniProt reviewed canonical sequence.

>Q9BQ65|USB1
     1  MSAAPLVGYS SSGSEDESED GMRTRPGDGS HRRGQSPLPR QRFPVPDSVL NMFPGTEEGP
    61  EDDSTKHGGR VRTFPHERGN WATHVYVPYE AKEEFLDLLD VLLPHAQTYV PRLVRMKVFH
   121  LSLSQSVVLR HHWILPFVQA LKARMTSFHR FFFTANQVKI YTNQEKTRTF IGLEVTSGHA
   181  QFLDLVSEVD RVMEEFNLTT FYQDPSFHLS LAWCVGDARL QLEGQCLQEL QAIVDGFEDA
   241  EVLLRVHTEQ VRCKSGNKFF SMPLK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against USB1 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)

0.36

Highest tissue expression

30 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about USB1.

Disease | AllUniProt

Conditions USB1 is implicated in, by any mechanism.

• Poikiloderma with neutropenia (PN) MIM:604173

Disease | GeneticClinVar

28 pathogenic / likely-pathogenic of 563 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Poikiloderma with neutropenia
• USB1-related disorder

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

gnomAD pLI

0

gnomAD missense Z

0.19

DepMap mean gene effect

-0.28

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• RNA splicing
• snRNA 3'-end processing
• U6 snRNA 3'-end processing

Molecular functions

• 3'-5'-RNA exonuclease activity
• lyase activity
• poly(U)-specific exoribonuclease activity, producing 3' uridine cyclic phosphate ends

Cellular components

• intercellular bridge
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• U6 snRNA phosphodiesterase 1
• Uncharacterised conserved protein

KeywordsUniProt

• Hydrolase
• Lyase
• Nuclease
• Nucleus

InteractionsUniProt · HPA

Protein binding partners of USB1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CDC5L
• PLRG1
• PRPF19