Property Summary

NCBI Gene PubMed Count 8
PubMed Score 15.52
PubTator Score 8.17

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (2)

Disease Target Count P-value
atypical teratoid / rhabdoid tumor 4369 3.5e-05
psoriasis 6685 3.8e-04
glioblastoma 5572 5.6e-04
Disease Target Count Z-score Confidence
Essential tremor 30 6.589 3.3
Bell's palsy 2 3.158 1.6

Expression

  Differential Expression (3)

Disease log2 FC p
psoriasis 1.600 3.8e-04
atypical teratoid / rhabdoid tumor 1.100 3.5e-05
glioblastoma 1.100 5.6e-04

Synonym

Accession Q53T59 B2RAW2 D6W529 Q86VC2 Q8N367
Symbols ETM2
HS1-BP3

Gene

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

Gene RIF (5)

PMID Text
21699750 Results suggest that HS1BP3 regulates apoptosis via HS1 and stimulates AP-1-mediated transcription.
19524641 Results do not support a role for these DRD3 and HS1BP3 variants in PD.
19524641 Observational study of gene-disease association. (HuGE Navigator)
16116142 HS1PB3 protein is mutated in essential tremor combined with Parkinson disease.
15699368 The 828C-->G mutation causes a substitution of a glycine for an alanine residue in the HS1-BP3 protein. It was found in 2 unrelated patients with familial essential tremor.

AA Sequence

MQSPAVLVTSRRLQNAHTGLDLTVPQHQEVRGKMMSGHVEYQILVVTRLAAFKSAKHRPEDVVQFLVSKK      1 - 70
YSEIEEFYQKLSSRYAAASLPPLPRKVLFVGESDIRERRAVFNEILRCVSKDAELAGSPELLEFLGTRSP     71 - 140
GAAGLTSRDSSVLDGTDSQTGNDEEAFDFFEEQDQVAEEGPPVQSLKGEDAEESLEEEEALDPLGIMRSK    141 - 210
KPKKHPKVAVKAKPSPRLTIFDEEVDPDEGLFGPGRKLSPQDPSEDVSSVDPLKLFDDPDLGGAIPLGDS    211 - 280
LLLPAACESGGPTPSLSHRDASKELFRVEEDLDQILNLGAEPKPKPQLKPKPPVAAKPVIPRKPAVPPKA    281 - 350
GPAEAVAGQQKPQEQIQAMDEMDILQYIQDHDTPAQAAPSLF                                351 - 392
//

Text Mined References (19)

PMID Year Title
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
21699750 2011 Human HS1BP3 induces cell apoptosis and activates AP-1.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21269460 2011 Initial characterization of the human central proteome.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19524641 2009 DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
16964243 2006 A probability-based approach for high-throughput protein phosphorylation analysis and site localization.
16116142 2005 Extended study of A265G variant of HS1BP3 in essential tremor and Parkinson disease.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15699368 2005 A variant in the HS1-BP3 gene is associated with familial essential tremor.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10590261 1999 Isolation and characterization of a novel HS1 SH3 domain binding protein, HS1BP3.
8889549 1996 Generation and analysis of 280,000 human expressed sequence tags.