Property Summary

NCBI Gene PubMed Count 31
PubMed Score 29.54
PubTator Score 35.24

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Expression

  Differential Expression (23)

Disease log2 FC p
psoriasis 2.500 4.7e-04
astrocytoma -2.300 3.7e-03
glioblastoma -2.400 7.5e-03
oligodendroglioma -1.100 1.0e-07
osteosarcoma 2.666 4.1e-03
atypical teratoid / rhabdoid tumor -2.800 8.8e-04
medulloblastoma, large-cell -1.300 2.6e-02
Amyotrophic Lateral Sclerosis 1.022 4.0e-05
primary pancreatic ductal adenocarcinoma -1.538 2.1e-04
non-small cell lung cancer -1.752 8.6e-14
intraductal papillary-mucinous adenoma (... -1.700 1.8e-02
intraductal papillary-mucinous carcinoma... -2.000 2.2e-02
intraductal papillary-mucinous neoplasm ... -2.400 1.1e-02
colon cancer -4.400 5.7e-06
lung cancer -2.500 2.7e-04
interstitial cystitis 1.300 3.4e-02
lung adenocarcinoma -1.100 2.7e-20
pediatric high grade glioma -1.900 3.6e-03
sonic hedgehog group medulloblastoma -1.700 1.2e-02
Pick disease -1.500 1.5e-02
ductal carcinoma in situ 1.400 1.4e-02
ovarian cancer -6.200 2.3e-22
pancreatic cancer -1.800 1.6e-03

Gene RIF (22)

PMID Text
26671083 This study demonstrated that REEP1 gene mutation associated with hereditary spastic paraplegias in group of Polish patients
26201691 we show that REEP1 facilitates endoplasmic reticulum mitochondria interactions, a function diminished by disease-associated mutations.
24986827 Nonsense variants in REEP1 causing haploinsufficiency/loss of function are responsible for autosomal dominant hereditary spastic paraplegia (HSP)-type SPG31.
24478229 Functional mutation analysis reveal that distinct pathomechanisms are associated with REEP1 mutations and shed new light on its probable functions.
24355597 Expression of the REEP1/REEP2 subfamily appears to be restricted to neuronal and neuronal-like exocytotic tissues, consistent with neuronally restricted symptoms of REEP1 genetic disorders.
24051375 REEP1 is a neuron-specific, membrane-binding, and membrane curvature-inducing protein that resides in the endoplasmic reticulum.
23108492 A novel REEP1 mutation is identified in a cohort of patients with upper motor neuron syndrome.
22703882 Whole-exome sequencing of two affected individuals revealed a single candidate variant within the linking regions, i.e., a splice-site alteration in REEP1
21618648 Identification of 12 different heterozygous REEP1 mutations, including two exon deletions, associated with either a pure or a complex phenotype.
20718791 previously unreported autosomal dominant mutations in the REEP1 gene in hereditary spastic paraplegia
20718791 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20200447 Hereditary spastic paraplegias(HSP) proteins atlastin-1, spastin, and REEP1 interact within the tubularER membrane in corticospinal neurons to coordinate ER shaping and microtubule dynamics.
19781397 Receptor expression-enhancing protein 1 gene (SPG31) mutations are rare in Chinese Han patients with hereditary spastic paraplegia.
19072839 A novel splice-site mutation (REEP1 c417+1g>a) was identified in chiease family of ADHSP.
19034539 Results identify the frequency of REEP1 mutations in both autosomal dominant HSP (ADHSP) and sporadic spastic paraparesis (SSP) and analyse the genotype/phenotype correlation of mutations so far described in REEP1.
19034539 Observational study of gene-disease association. (HuGE Navigator)
18644145 Our results confirm the previously observed mutation range of 3% to 6.5%, respectively, and they widen the spectrum of REEP1 mutations
18644145 Observational study of gene-disease association. (HuGE Navigator)
18321925 Mutations in the receptor expression enhancing protein 1 (REEP1) have recently been reported to cause autosomal dominant hereditary spastic paraplegia type SPG31. We identified 13 novel and 2 known REEP1 mutations in 16 familial and sporadic patients.
16826527 REEP1 is widely expressed and localizes to mitochondria, which underlines the importance of mitochondrial function in neurodegenerative disease.
16720576 RTP and REEP gene expression in human circumvallate papillae and testis, both of which are sites of taste receptor gene expression.

AA Sequence

MVSWIISRLVVLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKI      1 - 70
AFVAWLLSPYTKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRSYDALVHFGKRGLNVAATAAVMAASKG     71 - 140
QGALSERLRSFSMQDLTTIRGDGAPAPSGPPPPGSGRASGKHGQPKMSRSASESASSSGTA             141 - 201
//

Text Mined References (33)

PMID Year Title
26671083 2015 Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.
26201691 2015 Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts.
24986827 2015 A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1.
24478229 2014 Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology.
24355597 2014 REEP1 and REEP2 proteins are preferentially expressed in neuronal and neuronal-like exocytotic tissues.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24051375 2013 A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.
23969831 2013 Protrudin binds atlastins and endoplasmic reticulum-shaping proteins and regulates network formation.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23108492 2013 ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes.
22703882 2012 Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.
21618648 2011 REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.
20718791 2011 Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20200447 2010 Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network.
19781397 2009 Receptor expression-enhancing protein 1 gene (SPG31) mutations are rare in Chinese Han patients with hereditary spastic paraplegia.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19161151 2009 Interstitial deletion 2p11.2-p12: report of a patient with mental retardation and review of the literature.
19072839 2009 Clinical and genetic study of a novel mutation in the REEP1 gene.
19034539 2009 New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP).
18644145 2008 Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).
18364116 2008 A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia.
18321925 2008 REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
16826527 2006 Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.
16720576 2006 Members of RTP and REEP gene families influence functional bitter taste receptor expression.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16271481 2005 Inherited ACTH insensitivity illuminates the mechanisms of ACTH action.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15550249 2004 RTP family members induce functional expression of mammalian odorant receptors.
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.
7829101 1994 Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening.