Expression of USB1 in cancer - Summary - The Human Protein Atlas

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USB1

TISSUE

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CELL

PATHOLOGY

PATHOLOGY ATLAS

GENE/PROTEIN

Antibody validation

Dictionary


Level of antibody staining/expression
	High Medium Low Not detected

GENERAL INFORMATION
Gene name	USB1
Gene description	U6 snRNA biogenesis 1
Protein class	Disease related genes Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	6
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HUMAN PROTEIN ATLAS INFORMATION

RNA category

TCGA (cancer tissue):	Expressed in all
HPA (cell line):	Expressed in all
HPA (normal tissue):	Expressed in all

Protein evidence

Evidence at protein level

Protein expression
normal tissue

Cytoplasmic expression in a few tissues.

ANTIBODY IHC RELIABILITY
Data reliability description	Antibody staining mainly not consistent with RNA expression data. Pending external verification.
Reliability score	Approved based on 1 antibody. HPA041791
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PROGNOSTIC SUMMARY
Prognostic marker in liver cancer (unfavourable) and renal cancer (unfavourable).
Liver cancer p<0.001 Renal cancer p<0.001 Show all

RNA EXPRESSION OVERVIEW
TCGA dataset RNA cancer category: Expressed in all

PROTEIN EXPRESSION

Colorectal cancer

Prostate cancer

STAINING SUMMARY

HPA041791

GENE INFORMATION
Gene name	USB1 (HGNC Symbol)
Synonyms	C16orf57, FLJ13154, HVSL1, Mpn1
Description	U6 snRNA biogenesis 1 (HGNC Symbol)
Entrez gene summary	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]
Chromosome	16
Cytoband	q21
Chromosome location (bp)	57999546 - 58021618
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000103005 (version 83.38)
Entrez gene	79650
UniProt	Q9BQ65 (UniProt - Evidence at protein level)
neXtProt	NX_Q9BQ65
Antibodypedia	USB1 antibodies

PROTEIN BROWSER

USB1-001	USB1-002	USB1-003	USB1-004	USB1-012	USB1-014

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
USB1-001 ENSP00000219281 ENST00000219281	Q9BQ65 [Direct mapping] U6 snRNA phosphodiesterase A0A024R6V6 [Target identity:100%; Query identity:100%] U6 snRNA phosphodiesterase Show all	Predicted intracellular proteins Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0000175 [3'-5'-exoribonuclease activity] GO:0004518 [nuclease activity] GO:0005634 [nucleus] GO:0006397 [mRNA processing] GO:0008380 [RNA splicing] GO:0034477 [U6 snRNA 3'-end processing] GO:0090503 [RNA phosphodiester bond hydrolysis, exonucleolytic] Show all	265 aa 30.3 kDa	No	0
USB1-002 ENSP00000446143 ENST00000539737	Q9BQ65 [Direct mapping] U6 snRNA phosphodiesterase Show all	Predicted intracellular proteins Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0000175 [3'-5'-exoribonuclease activity] GO:0004518 [nuclease activity] GO:0005634 [nucleus] GO:0006397 [mRNA processing] GO:0008380 [RNA splicing] GO:0034477 [U6 snRNA 3'-end processing] GO:0090503 [RNA phosphodiester bond hydrolysis, exonucleolytic] Show all	247 aa 28.1 kDa	No	0
USB1-003 ENSP00000454692 ENST00000563149	H3BN52 [Direct mapping] U6 snRNA phosphodiesterase Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0004518 [nuclease activity] GO:0034477 [U6 snRNA 3'-end processing] GO:0090305 [nucleic acid phosphodiester bond hydrolysis] Show all	163 aa 18.5 kDa	No	0
USB1-004 ENSP00000409792 ENST00000423271	Q9BQ65 [Direct mapping] U6 snRNA phosphodiesterase Show all	Predicted intracellular proteins Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0000175 [3'-5'-exoribonuclease activity] GO:0004518 [nuclease activity] GO:0005634 [nucleus] GO:0006397 [mRNA processing] GO:0008380 [RNA splicing] GO:0034477 [U6 snRNA 3'-end processing] GO:0090503 [RNA phosphodiester bond hydrolysis, exonucleolytic] Show all	186 aa 20.8 kDa	No	0
USB1-012 ENSP00000454928 ENST00000561743	H3BNM8 [Direct mapping] U6 snRNA phosphodiesterase Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0004518 [nuclease activity] GO:0005634 [nucleus] GO:0006397 [mRNA processing] GO:0008380 [RNA splicing] GO:0034477 [U6 snRNA 3'-end processing] GO:0090305 [nucleic acid phosphodiester bond hydrolysis] Show all	214 aa 24.8 kDa	No	0
USB1-014 ENSP00000457322 ENST00000561568	H3BTT8 [Direct mapping] U6 snRNA phosphodiesterase Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0004518 [nuclease activity] GO:0034477 [U6 snRNA 3'-end processing] GO:0090305 [nucleic acid phosphodiester bond hydrolysis] Show all	182 aa 20.7 kDa	No	0

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The Human Protein Atlas

The Human Protein Atlas project is funded
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